DSMA4
MCID: SPN191
MIFTS: 23

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 (DSMA4)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

MalaCards integrated aliases for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4:

Name: Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 58 13 74
Dsma4 58 60 76
Distal Spinal Muscular Atrophy, Autosomal Recessive 4 30 6
Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset 60
Atrophy, Muscular, Spinal, Distal, Autosomal Recessive, Type 4 41
Autosomal Recessive Distal Spinal Muscular Atrophy Type 4 60
Distal Spinal Muscular Atrophy, Autosomal Recessive, 4 76
Distal Spinal Muscular Atrophy Type 4 60

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive lower motor neuron disease with childhood onset
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
rapidly progressive
onset in early childhood
patients may become ventilator-dependent


HPO:

33
spinal muscular atrophy, distal, autosomal recessive, 4:
Onset and clinical course rapidly progressive childhood onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

OMIM 58 611067
MeSH 45 D009134
ICD10 via Orphanet 35 G12.2
UMLS via Orphanet 75 C1970211
Orphanet 60 ORPHA206580
MedGen 43 C1970211
UMLS 74 C1970211

Summaries for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

UniProtKB/Swiss-Prot : 76 Distal spinal muscular atrophy, autosomal recessive, 4: A neuromuscular disorder. Distal spinal muscular atrophy, also known as distal hereditary motor neuronopathy, represents a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. DSMA4 is characterized by childhood onset, generalized muscle weakness and atrophy with denervation and normal sensation. Bulbar symptoms and pyramidal signs are absent.

MalaCards based summary : Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4, also known as dsma4, is related to motor neuron disease, and has symptoms including waddling gait An important gene associated with Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 is PLEKHG5 (Pleckstrin Homology And RhoGEF Domain Containing G5). Affiliated tissues include spinal cord, and related phenotypes are scoliosis and hyperlordosis

Description from OMIM: 611067

Related Diseases for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

Diseases in the Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 family:

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5

Diseases related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 motor neuron disease 10.3

Symptoms & Phenotypes for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

Human phenotypes related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4:

33 (showing 16, show less)
# Description HPO Frequency HPO Source Accession
1 scoliosis 33 HP:0002650
2 hyperlordosis 33 HP:0003307
3 respiratory insufficiency due to muscle weakness 33 HP:0002747
4 waddling gait 33 HP:0002515
5 talipes equinovarus 33 HP:0001762
6 areflexia 33 HP:0001284
7 difficulty walking 33 HP:0002355
8 proximal muscle weakness 33 HP:0003701
9 difficulty climbing stairs 33 HP:0003551
10 distal muscle weakness 33 HP:0002460
11 distal amyotrophy 33 HP:0003693
12 emg: neuropathic changes 33 HP:0003445
13 spinal muscular atrophy 33 HP:0007269
14 abnormal lower motor neuron morphology 33 HP:0002366
15 joint contracture of the hand 33 HP:0009473
16 scapuloperoneal amyotrophy 33 HP:0003697

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
scoliosis
hyperlordosis

Skeletal Feet:
talipes equinovarus

Respiratory:
decreased respiratory function due to muscle weakness

Muscle Soft Tissue:
distal muscle atrophy due to denervation
scapuloperoneal muscular atrophy due to denervation

Neurologic Central Nervous System:
waddling gait
proximal muscle weakness
normal mental development
lower motor neuron disease
distal muscle weakness and atrophy due to motor neuronopathy
more
Neurologic Peripheral Nervous System:
areflexia
normal sensation
sural nerve biopsy shows normal findings

Skeletal Hands:
contractures, hand and finger muscles

Clinical features from OMIM:

611067

UMLS symptoms related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4:


waddling gait

Drugs & Therapeutics for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

Search Clinical Trials , NIH Clinical Center for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

Genetic Tests for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

Genetic tests related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4:

# Genetic test Affiliating Genes
1 Distal Spinal Muscular Atrophy, Autosomal Recessive 4 30 PLEKHG5

Anatomical Context for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

MalaCards organs/tissues related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4:

42
Spinal Cord

Publications for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

Articles related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4:

(showing 2, show less)
# Title Authors Year
1
The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset. ( 17564964 )
2007
2
A gene for an autosomal recessive lower motor neuron disease with childhood onset maps to 1p36. ( 16728649 )
2006

Variations for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

UniProtKB/Swiss-Prot genetic disease variations for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4:

76 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 PLEKHG5 p.Phe703Ser VAR_035357 rs63750315

ClinVar genetic disease variations for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4:

6 (showing 325, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 PLEKHG5 NM_020631.4(PLEKHG5): c.1940T> C (p.Phe647Ser) single nucleotide variant Pathogenic rs63750315 GRCh37 Chromosome 1, 6529504: 6529504
2 PLEKHG5 NM_020631.4(PLEKHG5): c.1940T> C (p.Phe647Ser) single nucleotide variant Pathogenic rs63750315 GRCh38 Chromosome 1, 6469444: 6469444
3 PLEKHG5 NM_020631.4(PLEKHG5): c.1741G> A (p.Glu581Lys) single nucleotide variant Uncertain significance rs267598690 GRCh37 Chromosome 1, 6530355: 6530355
4 PLEKHG5 NM_020631.4(PLEKHG5): c.1741G> A (p.Glu581Lys) single nucleotide variant Uncertain significance rs267598690 GRCh38 Chromosome 1, 6470295: 6470295
5 PLEKHG5 NM_020631.4(PLEKHG5): c.1741G> A (p.Glu581Lys) single nucleotide variant Uncertain significance rs267598690 NCBI36 Chromosome 1, 6452942: 6452942
6 PLEKHG5 NM_020631.4(PLEKHG5): c.1616C> T (p.Ala539Val) single nucleotide variant Uncertain significance rs370515061 GRCh37 Chromosome 1, 6530630: 6530630
7 PLEKHG5 NM_020631.4(PLEKHG5): c.1616C> T (p.Ala539Val) single nucleotide variant Uncertain significance rs370515061 GRCh38 Chromosome 1, 6470570: 6470570
8 PLEKHG5 NM_020631.4(PLEKHG5): c.1729G> A (p.Ala577Thr) single nucleotide variant Uncertain significance rs143545780 GRCh37 Chromosome 1, 6530367: 6530367
9 PLEKHG5 NM_020631.4(PLEKHG5): c.1729G> A (p.Ala577Thr) single nucleotide variant Uncertain significance rs143545780 GRCh38 Chromosome 1, 6470307: 6470307
10 PLEKHG5 NM_020631.4(PLEKHG5): c.1932T> C (p.Pro644=) single nucleotide variant Conflicting interpretations of pathogenicity rs150807400 GRCh37 Chromosome 1, 6529605: 6529605
11 PLEKHG5 NM_020631.4(PLEKHG5): c.1932T> C (p.Pro644=) single nucleotide variant Conflicting interpretations of pathogenicity rs150807400 GRCh38 Chromosome 1, 6469545: 6469545
12 PLEKHG5 NM_020631.4(PLEKHG5): c.2163_2168delGGAGGA (p.Glu722_Glu723del) deletion Benign rs113541584 GRCh37 Chromosome 1, 6529183: 6529188
13 PLEKHG5 NM_020631.4(PLEKHG5): c.2163_2168delGGAGGA (p.Glu722_Glu723del) deletion Benign rs113541584 GRCh38 Chromosome 1, 6469123: 6469128
14 PLEKHG5 NM_020631.4(PLEKHG5): c.2867G> A (p.Arg956Lys) single nucleotide variant Uncertain significance rs773530688 GRCh37 Chromosome 1, 6528029: 6528029
15 PLEKHG5 NM_020631.4(PLEKHG5): c.2867G> A (p.Arg956Lys) single nucleotide variant Uncertain significance rs773530688 GRCh38 Chromosome 1, 6467969: 6467969
16 PLEKHG5 NM_020631.4(PLEKHG5): c.2720T> C (p.Leu907Pro) single nucleotide variant Uncertain significance rs764378556 GRCh37 Chromosome 1, 6528176: 6528176
17 PLEKHG5 NM_020631.4(PLEKHG5): c.2720T> C (p.Leu907Pro) single nucleotide variant Uncertain significance rs764378556 GRCh38 Chromosome 1, 6468116: 6468116
18 PLEKHG5 NM_020631.4(PLEKHG5): c.2564C> T (p.Ser855Leu) single nucleotide variant Uncertain significance rs768995193 GRCh37 Chromosome 1, 6528332: 6528332
19 PLEKHG5 NM_020631.4(PLEKHG5): c.2564C> T (p.Ser855Leu) single nucleotide variant Uncertain significance rs768995193 GRCh38 Chromosome 1, 6468272: 6468272
20 PLEKHG5 NM_020631.4(PLEKHG5): c.73C> T (p.Arg25Trp) single nucleotide variant Uncertain significance rs377503203 GRCh37 Chromosome 1, 6536067: 6536067
21 PLEKHG5 NM_020631.4(PLEKHG5): c.73C> T (p.Arg25Trp) single nucleotide variant Uncertain significance rs377503203 GRCh38 Chromosome 1, 6476007: 6476007
22 PLEKHG5 NM_020631.4(PLEKHG5): c.518G> A (p.Arg173Gln) single nucleotide variant Uncertain significance rs142378760 GRCh37 Chromosome 1, 6534146: 6534146
23 PLEKHG5 NM_020631.4(PLEKHG5): c.518G> A (p.Arg173Gln) single nucleotide variant Uncertain significance rs142378760 GRCh38 Chromosome 1, 6474086: 6474086
24 PLEKHG5 NM_020631.4(PLEKHG5): c.719A> G (p.Asp240Gly) single nucleotide variant Uncertain significance rs199794578 GRCh37 Chromosome 1, 6533387: 6533387
25 PLEKHG5 NM_020631.4(PLEKHG5): c.719A> G (p.Asp240Gly) single nucleotide variant Uncertain significance rs199794578 GRCh38 Chromosome 1, 6473327: 6473327
26 PLEKHG5 NM_020631.4(PLEKHG5): c.691G> A (p.Gly231Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs146651455 GRCh37 Chromosome 1, 6533415: 6533415
27 PLEKHG5 NM_020631.4(PLEKHG5): c.691G> A (p.Gly231Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs146651455 GRCh38 Chromosome 1, 6473355: 6473355
28 PLEKHG5 NM_020631.4(PLEKHG5): c.2458G> A (p.Gly820Ser) single nucleotide variant Benign/Likely benign rs202191898 GRCh38 Chromosome 1, 6468378: 6468378
29 PLEKHG5 NM_020631.4(PLEKHG5): c.2458G> A (p.Gly820Ser) single nucleotide variant Benign/Likely benign rs202191898 GRCh37 Chromosome 1, 6528438: 6528438
30 PLEKHG5 NM_020631.4(PLEKHG5): c.2594A> G (p.Gln865Arg) single nucleotide variant Benign/Likely benign rs3007419 GRCh37 Chromosome 1, 6528302: 6528302
31 PLEKHG5 NM_020631.4(PLEKHG5): c.2594A> G (p.Gln865Arg) single nucleotide variant Benign/Likely benign rs3007419 GRCh38 Chromosome 1, 6468242: 6468242
32 PLEKHG5 NM_020631.4(PLEKHG5): c.2525G> A (p.Arg842Gln) single nucleotide variant Uncertain significance rs149682441 GRCh37 Chromosome 1, 6528371: 6528371
33 PLEKHG5 NM_020631.4(PLEKHG5): c.2525G> A (p.Arg842Gln) single nucleotide variant Uncertain significance rs149682441 GRCh38 Chromosome 1, 6468311: 6468311
34 PLEKHG5 NM_020631.4(PLEKHG5): c.1738G> A (p.Glu580Lys) single nucleotide variant Uncertain significance rs760122001 GRCh37 Chromosome 1, 6530358: 6530358
35 PLEKHG5 NM_020631.4(PLEKHG5): c.1738G> A (p.Glu580Lys) single nucleotide variant Uncertain significance rs760122001 GRCh38 Chromosome 1, 6470298: 6470298
36 PLEKHG5 NM_020631.4(PLEKHG5): c.1507G> C (p.Glu503Gln) single nucleotide variant Uncertain significance rs868161574 GRCh38 Chromosome 1, 6470770: 6470770
37 PLEKHG5 NM_020631.4(PLEKHG5): c.1507G> C (p.Glu503Gln) single nucleotide variant Uncertain significance rs868161574 GRCh37 Chromosome 1, 6530830: 6530830
38 PLEKHG5 NM_020631.4(PLEKHG5): c.994C> T (p.Arg332Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs140202670 GRCh37 Chromosome 1, 6532673: 6532673
39 PLEKHG5 NM_020631.4(PLEKHG5): c.994C> T (p.Arg332Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs140202670 GRCh38 Chromosome 1, 6472613: 6472613
40 PLEKHG5 NM_020631.4(PLEKHG5): c.638C> T (p.Ala213Val) single nucleotide variant Uncertain significance rs367543633 GRCh37 Chromosome 1, 6533468: 6533468
41 PLEKHG5 NM_020631.4(PLEKHG5): c.638C> T (p.Ala213Val) single nucleotide variant Uncertain significance rs367543633 GRCh38 Chromosome 1, 6473408: 6473408
42 PLEKHG5 NM_020631.4(PLEKHG5): c.541G> A (p.Ala181Thr) single nucleotide variant Uncertain significance rs527341275 GRCh37 Chromosome 1, 6534123: 6534123
43 PLEKHG5 NM_020631.4(PLEKHG5): c.541G> A (p.Ala181Thr) single nucleotide variant Uncertain significance rs527341275 GRCh38 Chromosome 1, 6474063: 6474063
44 PLEKHG5 NM_020631.4(PLEKHG5): c.482T> C (p.Met161Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs140817021 GRCh37 Chromosome 1, 6534182: 6534182
45 PLEKHG5 NM_020631.4(PLEKHG5): c.482T> C (p.Met161Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs140817021 GRCh38 Chromosome 1, 6474122: 6474122
46 PLEKHG5 NM_020631.4(PLEKHG5): c.307G> A (p.Val103Met) single nucleotide variant Conflicting interpretations of pathogenicity rs141032388 GRCh37 Chromosome 1, 6534643: 6534643
47 PLEKHG5 NM_020631.4(PLEKHG5): c.307G> A (p.Val103Met) single nucleotide variant Conflicting interpretations of pathogenicity rs141032388 GRCh38 Chromosome 1, 6474583: 6474583
48 PLEKHG5 NM_020631.4(PLEKHG5): c.274G> A (p.Val92Ile) single nucleotide variant Uncertain significance rs371516662 GRCh38 Chromosome 1, 6475075: 6475075
49 PLEKHG5 NM_020631.4(PLEKHG5): c.274G> A (p.Val92Ile) single nucleotide variant Uncertain significance rs371516662 GRCh37 Chromosome 1, 6535135: 6535135
50 PLEKHG5 NM_020631.4(PLEKHG5): c.88C> T (p.Arg30Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs111400494 GRCh37 Chromosome 1, 6536052: 6536052
51 PLEKHG5 NM_020631.4(PLEKHG5): c.88C> T (p.Arg30Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs111400494 GRCh38 Chromosome 1, 6475992: 6475992
52 PLEKHG5 NM_020631.4(PLEKHG5): c.83C> T (p.Pro28Leu) single nucleotide variant Uncertain significance rs143585428 GRCh38 Chromosome 1, 6475997: 6475997
53 PLEKHG5 NM_020631.4(PLEKHG5): c.83C> T (p.Pro28Leu) single nucleotide variant Uncertain significance rs143585428 GRCh37 Chromosome 1, 6536057: 6536057
54 PLEKHG5 NM_020631.4(PLEKHG5): c.34C> A (p.Pro12Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs140687324 GRCh38 Chromosome 1, 6477538: 6477538
55 PLEKHG5 NM_020631.4(PLEKHG5): c.34C> A (p.Pro12Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs140687324 GRCh37 Chromosome 1, 6537598: 6537598
56 PLEKHG5 NM_020631.4(PLEKHG5): c.64G> A (p.Val22Met) single nucleotide variant Likely benign rs112530241 GRCh37 Chromosome 1, 6536076: 6536076
57 PLEKHG5 NM_020631.4(PLEKHG5): c.64G> A (p.Val22Met) single nucleotide variant Likely benign rs112530241 GRCh38 Chromosome 1, 6476016: 6476016
58 PLEKHG5 NM_020631.4(PLEKHG5): c.1254C> G (p.Pro418=) single nucleotide variant Conflicting interpretations of pathogenicity rs139904931 GRCh37 Chromosome 1, 6531575: 6531575
59 PLEKHG5 NM_020631.4(PLEKHG5): c.1254C> G (p.Pro418=) single nucleotide variant Conflicting interpretations of pathogenicity rs139904931 GRCh38 Chromosome 1, 6471515: 6471515
60 PLEKHG5 NM_020631.4(PLEKHG5): c.2160G> A (p.Glu720=) single nucleotide variant Conflicting interpretations of pathogenicity rs867638588 GRCh37 Chromosome 1, 6529191: 6529191
61 PLEKHG5 NM_020631.4(PLEKHG5): c.2160G> A (p.Glu720=) single nucleotide variant Conflicting interpretations of pathogenicity rs867638588 GRCh38 Chromosome 1, 6469131: 6469131
62 PLEKHG5 NM_020631.4(PLEKHG5): c.440-10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201656051 GRCh37 Chromosome 1, 6534234: 6534234
63 PLEKHG5 NM_020631.4(PLEKHG5): c.440-10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201656051 GRCh38 Chromosome 1, 6474174: 6474174
64 PLEKHG5 NM_020631.4(PLEKHG5): c.2576G> A (p.Arg859His) single nucleotide variant Benign/Likely benign rs61737997 GRCh37 Chromosome 1, 6528320: 6528320
65 PLEKHG5 NM_020631.4(PLEKHG5): c.2576G> A (p.Arg859His) single nucleotide variant Benign/Likely benign rs61737997 GRCh38 Chromosome 1, 6468260: 6468260
66 PLEKHG5 NM_020631.4(PLEKHG5): c.2827G> C (p.Gly943Arg) single nucleotide variant Benign/Likely benign rs114619322 GRCh37 Chromosome 1, 6528069: 6528069
67 PLEKHG5 NM_020631.4(PLEKHG5): c.2827G> C (p.Gly943Arg) single nucleotide variant Benign/Likely benign rs114619322 GRCh38 Chromosome 1, 6468009: 6468009
68 PLEKHG5 NM_020631.4(PLEKHG5): c.2433C> T (p.Arg811=) single nucleotide variant Conflicting interpretations of pathogenicity rs759272412 GRCh37 Chromosome 1, 6528463: 6528463
69 PLEKHG5 NM_020631.4(PLEKHG5): c.2433C> T (p.Arg811=) single nucleotide variant Conflicting interpretations of pathogenicity rs759272412 GRCh38 Chromosome 1, 6468403: 6468403
70 PLEKHG5 NM_020631.4(PLEKHG5): c.2431C> T (p.Arg811Cys) single nucleotide variant Uncertain significance rs538561788 GRCh37 Chromosome 1, 6528465: 6528465
71 PLEKHG5 NM_020631.4(PLEKHG5): c.2431C> T (p.Arg811Cys) single nucleotide variant Uncertain significance rs538561788 GRCh38 Chromosome 1, 6468405: 6468405
72 PLEKHG5 NM_020631.4(PLEKHG5): c.2319C> T (p.Pro773=) single nucleotide variant Benign rs80031446 GRCh37 Chromosome 1, 6528577: 6528577
73 PLEKHG5 NM_020631.4(PLEKHG5): c.2319C> T (p.Pro773=) single nucleotide variant Benign rs80031446 GRCh38 Chromosome 1, 6468517: 6468517
74 PLEKHG5 NM_020631.4(PLEKHG5): c.2331C> T (p.Ser777=) single nucleotide variant Conflicting interpretations of pathogenicity rs61749272 GRCh38 Chromosome 1, 6468505: 6468505
75 PLEKHG5 NM_020631.4(PLEKHG5): c.2331C> T (p.Ser777=) single nucleotide variant Conflicting interpretations of pathogenicity rs61749272 GRCh37 Chromosome 1, 6528565: 6528565
76 PLEKHG5 NM_020631.4(PLEKHG5): c.2164G> A (p.Glu722Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs201551894 GRCh38 Chromosome 1, 6469127: 6469127
77 PLEKHG5 NM_020631.4(PLEKHG5): c.2164G> A (p.Glu722Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs201551894 GRCh37 Chromosome 1, 6529187: 6529187
78 PLEKHG5 NM_020631.4(PLEKHG5): c.918C> T (p.Asp306=) single nucleotide variant Conflicting interpretations of pathogenicity rs111624565 GRCh37 Chromosome 1, 6533112: 6533112
79 PLEKHG5 NM_020631.4(PLEKHG5): c.918C> T (p.Asp306=) single nucleotide variant Conflicting interpretations of pathogenicity rs111624565 GRCh38 Chromosome 1, 6473052: 6473052
80 PLEKHG5 NM_020631.4(PLEKHG5): c.260T> C (p.Ile87Thr) single nucleotide variant Benign/Likely benign rs117505788 GRCh38 Chromosome 1, 6475089: 6475089
81 PLEKHG5 NM_020631.4(PLEKHG5): c.260T> C (p.Ile87Thr) single nucleotide variant Benign/Likely benign rs117505788 GRCh37 Chromosome 1, 6535149: 6535149
82 PLEKHG5 NM_020631.4(PLEKHG5): c.30C> T (p.Asp10=) single nucleotide variant Benign/Likely benign rs114209691 GRCh38 Chromosome 1, 6477542: 6477542
83 PLEKHG5 NM_020631.4(PLEKHG5): c.30C> T (p.Asp10=) single nucleotide variant Benign/Likely benign rs114209691 GRCh37 Chromosome 1, 6537602: 6537602
84 PLEKHG5 NM_020631.4(PLEKHG5): c.2746A> C (p.Thr916Pro) single nucleotide variant Uncertain significance rs187886272 GRCh38 Chromosome 1, 6468090: 6468090
85 PLEKHG5 NM_020631.4(PLEKHG5): c.2746A> C (p.Thr916Pro) single nucleotide variant Uncertain significance rs187886272 GRCh37 Chromosome 1, 6528150: 6528150
86 PLEKHG5 NM_020631.4(PLEKHG5): c.2166_2168dupGGA (p.Glu723_Gly724insGlu) duplication Conflicting interpretations of pathogenicity rs113541584 GRCh38 Chromosome 1, 6469123: 6469125
87 PLEKHG5 NM_020631.4(PLEKHG5): c.2166_2168dupGGA (p.Glu723_Gly724insGlu) duplication Conflicting interpretations of pathogenicity rs113541584 GRCh37 Chromosome 1, 6529183: 6529185
88 PLEKHG5 NM_020631.4(PLEKHG5): c.1883G> A (p.Arg628Lys) single nucleotide variant Uncertain significance rs144245744 GRCh38 Chromosome 1, 6469594: 6469594
89 PLEKHG5 NM_020631.4(PLEKHG5): c.1883G> A (p.Arg628Lys) single nucleotide variant Uncertain significance rs144245744 GRCh37 Chromosome 1, 6529654: 6529654
90 PLEKHG5 NM_020631.4(PLEKHG5): c.928G> A (p.Asp310Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs61730399 GRCh37 Chromosome 1, 6533102: 6533102
91 PLEKHG5 NM_020631.4(PLEKHG5): c.928G> A (p.Asp310Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs61730399 GRCh38 Chromosome 1, 6473042: 6473042
92 PLEKHG5 NM_020631.4(PLEKHG5): c.532G> A (p.Gly178Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs143484278 GRCh38 Chromosome 1, 6474072: 6474072
93 PLEKHG5 NM_020631.4(PLEKHG5): c.532G> A (p.Gly178Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs143484278 GRCh37 Chromosome 1, 6534132: 6534132
94 PLEKHG5 NM_020631.4(PLEKHG5): c.2634C> T (p.Ser878=) single nucleotide variant Conflicting interpretations of pathogenicity rs367560509 GRCh38 Chromosome 1, 6468202: 6468202
95 PLEKHG5 NM_020631.4(PLEKHG5): c.2634C> T (p.Ser878=) single nucleotide variant Conflicting interpretations of pathogenicity rs367560509 GRCh37 Chromosome 1, 6528262: 6528262
96 PLEKHG5 NM_020631.4(PLEKHG5): c.2543G> A (p.Arg848Gln) single nucleotide variant Uncertain significance rs761000380 GRCh38 Chromosome 1, 6468293: 6468293
97 PLEKHG5 NM_020631.4(PLEKHG5): c.2543G> A (p.Arg848Gln) single nucleotide variant Uncertain significance rs761000380 GRCh37 Chromosome 1, 6528353: 6528353
98 PLEKHG5 NM_020631.4(PLEKHG5): c.2457C> T (p.Tyr819=) single nucleotide variant Conflicting interpretations of pathogenicity rs184541137 GRCh38 Chromosome 1, 6468379: 6468379
99 PLEKHG5 NM_020631.4(PLEKHG5): c.2457C> T (p.Tyr819=) single nucleotide variant Conflicting interpretations of pathogenicity rs184541137 GRCh37 Chromosome 1, 6528439: 6528439
100 PLEKHG5 NM_020631.4(PLEKHG5): c.2163_2168dupGGAGGA (p.Glu723_Gly724insGluGlu) duplication Conflicting interpretations of pathogenicity rs113541584 GRCh38 Chromosome 1, 6469123: 6469128
101 PLEKHG5 NM_020631.4(PLEKHG5): c.2163_2168dupGGAGGA (p.Glu723_Gly724insGluGlu) duplication Conflicting interpretations of pathogenicity rs113541584 GRCh37 Chromosome 1, 6529183: 6529188
102 PLEKHG5 NM_020631.4(PLEKHG5): c.882C> T (p.Phe294=) single nucleotide variant Conflicting interpretations of pathogenicity rs370572859 GRCh37 Chromosome 1, 6533148: 6533148
103 PLEKHG5 NM_020631.4(PLEKHG5): c.882C> T (p.Phe294=) single nucleotide variant Conflicting interpretations of pathogenicity rs370572859 GRCh38 Chromosome 1, 6473088: 6473088
104 PLEKHG5 NM_020631.4(PLEKHG5): c.795+8G> A single nucleotide variant Benign/Likely benign rs114275646 GRCh37 Chromosome 1, 6533303: 6533303
105 PLEKHG5 NM_020631.4(PLEKHG5): c.795+8G> A single nucleotide variant Benign/Likely benign rs114275646 GRCh38 Chromosome 1, 6473243: 6473243
106 PLEKHG5 NM_020631.4(PLEKHG5): c.620C> T (p.Ser207Leu) single nucleotide variant Uncertain significance rs572530276 GRCh37 Chromosome 1, 6533486: 6533486
107 PLEKHG5 NM_020631.4(PLEKHG5): c.620C> T (p.Ser207Leu) single nucleotide variant Uncertain significance rs572530276 GRCh38 Chromosome 1, 6473426: 6473426
108 PLEKHG5 NM_020631.4(PLEKHG5): c.571C> T (p.Arg191Trp) single nucleotide variant Uncertain significance rs183712624 GRCh37 Chromosome 1, 6534093: 6534093
109 PLEKHG5 NM_020631.4(PLEKHG5): c.571C> T (p.Arg191Trp) single nucleotide variant Uncertain significance rs183712624 GRCh38 Chromosome 1, 6474033: 6474033
110 PLEKHG5 NM_020631.4(PLEKHG5): c.495G> A (p.Lys165=) single nucleotide variant Benign/Likely benign rs150772386 GRCh38 Chromosome 1, 6474109: 6474109
111 PLEKHG5 NM_020631.4(PLEKHG5): c.495G> A (p.Lys165=) single nucleotide variant Benign/Likely benign rs150772386 GRCh37 Chromosome 1, 6534169: 6534169
112 PLEKHG5 NM_020631.4(PLEKHG5): c.2691C> T (p.Ala897=) single nucleotide variant Conflicting interpretations of pathogenicity rs755539639 GRCh38 Chromosome 1, 6468145: 6468145
113 PLEKHG5 NM_020631.4(PLEKHG5): c.2691C> T (p.Ala897=) single nucleotide variant Conflicting interpretations of pathogenicity rs755539639 GRCh37 Chromosome 1, 6528205: 6528205
114 PLEKHG5 NM_020631.4(PLEKHG5): c.2427C> T (p.Asp809=) single nucleotide variant Conflicting interpretations of pathogenicity rs369876443 GRCh38 Chromosome 1, 6468409: 6468409
115 PLEKHG5 NM_020631.4(PLEKHG5): c.2427C> T (p.Asp809=) single nucleotide variant Conflicting interpretations of pathogenicity rs369876443 GRCh37 Chromosome 1, 6528469: 6528469
116 PLEKHG5 NM_020631.4(PLEKHG5): c.997C> T (p.Arg333Trp) single nucleotide variant Uncertain significance rs148232621 GRCh37 Chromosome 1, 6532670: 6532670
117 PLEKHG5 NM_020631.4(PLEKHG5): c.997C> T (p.Arg333Trp) single nucleotide variant Uncertain significance rs148232621 GRCh38 Chromosome 1, 6472610: 6472610
118 PLEKHG5 NM_020631.4(PLEKHG5): c.2581C> T (p.Arg861Cys) single nucleotide variant Benign rs148560273 GRCh37 Chromosome 1, 6528315: 6528315
119 PLEKHG5 NM_020631.4(PLEKHG5): c.2581C> T (p.Arg861Cys) single nucleotide variant Benign rs148560273 GRCh38 Chromosome 1, 6468255: 6468255
120 PLEKHG5 NM_020631.4(PLEKHG5): c.1724C> T (p.Pro575Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs77134982 GRCh37 Chromosome 1, 6530372: 6530372
121 PLEKHG5 NM_020631.4(PLEKHG5): c.1724C> T (p.Pro575Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs77134982 GRCh38 Chromosome 1, 6470312: 6470312
122 PLEKHG5 NM_020631.4(PLEKHG5): c.1023G> A (p.Val341=) single nucleotide variant Likely benign rs199903533 GRCh37 Chromosome 1, 6532644: 6532644
123 PLEKHG5 NM_020631.4(PLEKHG5): c.1023G> A (p.Val341=) single nucleotide variant Likely benign rs199903533 GRCh38 Chromosome 1, 6472584: 6472584
124 PLEKHG5 NM_020631.4(PLEKHG5): c.783C> T (p.Ser261=) single nucleotide variant Likely benign rs61738905 GRCh37 Chromosome 1, 6533323: 6533323
125 PLEKHG5 NM_020631.4(PLEKHG5): c.783C> T (p.Ser261=) single nucleotide variant Likely benign rs61738905 GRCh38 Chromosome 1, 6473263: 6473263
126 PLEKHG5 NM_020631.4(PLEKHG5): c.639G> A (p.Ala213=) single nucleotide variant Likely benign rs560366406 GRCh37 Chromosome 1, 6533467: 6533467
127 PLEKHG5 NM_020631.4(PLEKHG5): c.639G> A (p.Ala213=) single nucleotide variant Likely benign rs560366406 GRCh38 Chromosome 1, 6473407: 6473407
128 PLEKHG5 NM_020631.4(PLEKHG5): c.186G> A (p.Lys62=) single nucleotide variant Likely benign rs372405586 GRCh38 Chromosome 1, 6475486: 6475486
129 PLEKHG5 NM_020631.4(PLEKHG5): c.186G> A (p.Lys62=) single nucleotide variant Likely benign rs372405586 GRCh37 Chromosome 1, 6535546: 6535546
130 PLEKHG5 NM_020631.4(PLEKHG5): c.440-6A> G single nucleotide variant Benign rs202049535 GRCh37 Chromosome 1, 6534230: 6534230
131 PLEKHG5 NM_020631.4(PLEKHG5): c.440-6A> G single nucleotide variant Benign rs202049535 GRCh38 Chromosome 1, 6474170: 6474170
132 PLEKHG5 NM_020631.4(PLEKHG5): c.2226C> T (p.Ser742=) single nucleotide variant Likely benign rs370761668 GRCh37 Chromosome 1, 6529125: 6529125
133 PLEKHG5 NM_020631.4(PLEKHG5): c.2226C> T (p.Ser742=) single nucleotide variant Likely benign rs370761668 GRCh38 Chromosome 1, 6469065: 6469065
134 PLEKHG5 NM_020631.4(PLEKHG5): c.2319C> G (p.Pro773=) single nucleotide variant Likely benign rs80031446 GRCh37 Chromosome 1, 6528577: 6528577
135 PLEKHG5 NM_020631.4(PLEKHG5): c.2319C> G (p.Pro773=) single nucleotide variant Likely benign rs80031446 GRCh38 Chromosome 1, 6468517: 6468517
136 PLEKHG5 NM_020631.4(PLEKHG5): c.1705G> A (p.Asp569Asn) single nucleotide variant Uncertain significance rs200641225 GRCh37 Chromosome 1, 6530391: 6530391
137 PLEKHG5 NM_020631.4(PLEKHG5): c.1705G> A (p.Asp569Asn) single nucleotide variant Uncertain significance rs200641225 GRCh38 Chromosome 1, 6470331: 6470331
138 PLEKHG5 NM_020631.4(PLEKHG5): c.1236G> A (p.Thr412=) single nucleotide variant Likely benign rs376823275 GRCh37 Chromosome 1, 6531593: 6531593
139 PLEKHG5 NM_020631.4(PLEKHG5): c.1236G> A (p.Thr412=) single nucleotide variant Likely benign rs376823275 GRCh38 Chromosome 1, 6471533: 6471533
140 PLEKHG5 NM_020631.4(PLEKHG5): c.440-2A> G single nucleotide variant Conflicting interpretations of pathogenicity rs144750655 GRCh38 Chromosome 1, 6474166: 6474166
141 PLEKHG5 NM_020631.4(PLEKHG5): c.440-2A> G single nucleotide variant Conflicting interpretations of pathogenicity rs144750655 GRCh37 Chromosome 1, 6534226: 6534226
142 PLEKHG5 NM_020631.4(PLEKHG5): c.2789G> A (p.Arg930Gln) single nucleotide variant Uncertain significance rs376237905 GRCh37 Chromosome 1, 6528107: 6528107
143 PLEKHG5 NM_020631.4(PLEKHG5): c.2789G> A (p.Arg930Gln) single nucleotide variant Uncertain significance rs376237905 GRCh38 Chromosome 1, 6468047: 6468047
144 PLEKHG5 NM_020631.4(PLEKHG5): c.2366_2367delTC (p.Leu789Glnfs) deletion Pathogenic rs759212541 GRCh38 Chromosome 1, 6468469: 6468470
145 PLEKHG5 NM_020631.4(PLEKHG5): c.2366_2367delTC (p.Leu789Glnfs) deletion Pathogenic rs759212541 GRCh37 Chromosome 1, 6528529: 6528530
146 PLEKHG5 NM_020631.4(PLEKHG5): c.2160_2163delGGAGinsA (p.Glu723del) indel Uncertain significance rs386628081 GRCh38 Chromosome 1, 6469128: 6469131
147 PLEKHG5 NM_020631.4(PLEKHG5): c.2160_2163delGGAGinsA (p.Glu723del) indel Uncertain significance rs386628081 GRCh37 Chromosome 1, 6529188: 6529191
148 PLEKHG5 NM_020631.4(PLEKHG5): c.1840G> C (p.Val614Leu) single nucleotide variant Uncertain significance rs752514480 GRCh37 Chromosome 1, 6529697: 6529697
149 PLEKHG5 NM_020631.4(PLEKHG5): c.1840G> C (p.Val614Leu) single nucleotide variant Uncertain significance rs752514480 GRCh38 Chromosome 1, 6469637: 6469637
150 PLEKHG5 NM_020631.4(PLEKHG5): c.1818C> T (p.Phe606=) single nucleotide variant Benign/Likely benign rs149147021 GRCh37 Chromosome 1, 6529719: 6529719
151 PLEKHG5 NM_020631.4(PLEKHG5): c.1818C> T (p.Phe606=) single nucleotide variant Benign/Likely benign rs149147021 GRCh38 Chromosome 1, 6469659: 6469659
152 PLEKHG5 NM_020631.4(PLEKHG5): c.1707C> T (p.Asp569=) single nucleotide variant Likely benign rs1033319065 GRCh38 Chromosome 1, 6470329: 6470329
153 PLEKHG5 NM_020631.4(PLEKHG5): c.1707C> T (p.Asp569=) single nucleotide variant Likely benign rs1033319065 GRCh37 Chromosome 1, 6530389: 6530389
154 PLEKHG5 NM_020631.4(PLEKHG5): c.2837C> T (p.Ala946Val) single nucleotide variant Uncertain significance rs751158651 GRCh38 Chromosome 1, 6467999: 6467999
155 PLEKHG5 NM_020631.4(PLEKHG5): c.2837C> T (p.Ala946Val) single nucleotide variant Uncertain significance rs751158651 GRCh37 Chromosome 1, 6528059: 6528059
156 PLEKHG5 NM_020631.4(PLEKHG5): c.2610G> A (p.Pro870=) single nucleotide variant Conflicting interpretations of pathogenicity rs373880458 GRCh38 Chromosome 1, 6468226: 6468226
157 PLEKHG5 NM_020631.4(PLEKHG5): c.2610G> A (p.Pro870=) single nucleotide variant Conflicting interpretations of pathogenicity rs373880458 GRCh37 Chromosome 1, 6528286: 6528286
158 PLEKHG5 NM_020631.4(PLEKHG5): c.2506A> G (p.Met836Val) single nucleotide variant Uncertain significance rs752621606 GRCh38 Chromosome 1, 6468330: 6468330
159 PLEKHG5 NM_020631.4(PLEKHG5): c.2506A> G (p.Met836Val) single nucleotide variant Uncertain significance rs752621606 GRCh37 Chromosome 1, 6528390: 6528390
160 PLEKHG5 NM_020631.4(PLEKHG5): c.2124G> A (p.Glu708=) single nucleotide variant Likely benign rs370521517 GRCh37 Chromosome 1, 6529227: 6529227
161 PLEKHG5 NM_020631.4(PLEKHG5): c.2124G> A (p.Glu708=) single nucleotide variant Likely benign rs370521517 GRCh38 Chromosome 1, 6469167: 6469167
162 PLEKHG5 NM_020631.4(PLEKHG5): c.2070T> C (p.Arg690=) single nucleotide variant Likely benign rs141100808 GRCh38 Chromosome 1, 6469221: 6469221
163 PLEKHG5 NM_020631.4(PLEKHG5): c.2070T> C (p.Arg690=) single nucleotide variant Likely benign rs141100808 GRCh37 Chromosome 1, 6529281: 6529281
164 PLEKHG5 NM_020631.4(PLEKHG5): c.2017C> T (p.Arg673Cys) single nucleotide variant Uncertain significance rs747057331 GRCh37 Chromosome 1, 6529427: 6529427
165 PLEKHG5 NM_020631.4(PLEKHG5): c.2017C> T (p.Arg673Cys) single nucleotide variant Uncertain significance rs747057331 GRCh38 Chromosome 1, 6469367: 6469367
166 PLEKHG5 NM_020631.4(PLEKHG5): c.771C> G (p.Gly257=) single nucleotide variant Benign rs200400689 GRCh38 Chromosome 1, 6473275: 6473275
167 PLEKHG5 NM_020631.4(PLEKHG5): c.771C> G (p.Gly257=) single nucleotide variant Benign rs200400689 GRCh37 Chromosome 1, 6533335: 6533335
168 PLEKHG5 NM_020631.4(PLEKHG5): c.414C> T (p.Phe138=) single nucleotide variant Likely benign rs375075005 GRCh38 Chromosome 1, 6474476: 6474476
169 PLEKHG5 NM_020631.4(PLEKHG5): c.414C> T (p.Phe138=) single nucleotide variant Likely benign rs375075005 GRCh37 Chromosome 1, 6534536: 6534536
170 PLEKHG5 NM_020631.4(PLEKHG5): c.2698C> T (p.Arg900Cys) single nucleotide variant Uncertain significance rs750132016 GRCh38 Chromosome 1, 6468138: 6468138
171 PLEKHG5 NM_020631.4(PLEKHG5): c.2698C> T (p.Arg900Cys) single nucleotide variant Uncertain significance rs750132016 GRCh37 Chromosome 1, 6528198: 6528198
172 PLEKHG5 NM_020631.4(PLEKHG5): c.2233C> A (p.Pro745Thr) single nucleotide variant Uncertain significance rs756501907 GRCh38 Chromosome 1, 6469058: 6469058
173 PLEKHG5 NM_020631.4(PLEKHG5): c.2233C> A (p.Pro745Thr) single nucleotide variant Uncertain significance rs756501907 GRCh37 Chromosome 1, 6529118: 6529118
174 PLEKHG5 NM_020631.4(PLEKHG5): c.2156_2157insAGA (p.Glu723_Gly724insGlu) insertion Uncertain significance rs1553173388 GRCh38 Chromosome 1, 6469134: 6469135
175 PLEKHG5 NM_020631.4(PLEKHG5): c.2156_2157insAGA (p.Glu723_Gly724insGlu) insertion Uncertain significance rs1553173388 GRCh37 Chromosome 1, 6529194: 6529195
176 PLEKHG5 NM_020631.4(PLEKHG5): c.1697T> A (p.Leu566Gln) single nucleotide variant Uncertain significance rs376513313 GRCh37 Chromosome 1, 6530399: 6530399
177 PLEKHG5 NM_020631.4(PLEKHG5): c.1697T> A (p.Leu566Gln) single nucleotide variant Uncertain significance rs376513313 GRCh38 Chromosome 1, 6470339: 6470339
178 PLEKHG5 NM_020631.4(PLEKHG5): c.1681-9C> G single nucleotide variant Uncertain significance rs373133607 GRCh38 Chromosome 1, 6470364: 6470364
179 PLEKHG5 NM_020631.4(PLEKHG5): c.1681-9C> G single nucleotide variant Uncertain significance rs373133607 GRCh37 Chromosome 1, 6530424: 6530424
180 PLEKHG5 NM_020631.4(PLEKHG5): c.1647G> A (p.Glu549=) single nucleotide variant Likely benign rs770781624 GRCh37 Chromosome 1, 6530599: 6530599
181 PLEKHG5 NM_020631.4(PLEKHG5): c.1647G> A (p.Glu549=) single nucleotide variant Likely benign rs770781624 GRCh38 Chromosome 1, 6470539: 6470539
182 PLEKHG5 NM_020631.4(PLEKHG5): c.1019C> T (p.Ala340Val) single nucleotide variant Likely benign rs72861528 GRCh37 Chromosome 1, 6532648: 6532648
183 PLEKHG5 NM_020631.4(PLEKHG5): c.1019C> T (p.Ala340Val) single nucleotide variant Likely benign rs72861528 GRCh38 Chromosome 1, 6472588: 6472588
184 PLEKHG5 NM_020631.4(PLEKHG5): c.572G> A (p.Arg191Gln) single nucleotide variant Uncertain significance rs541234129 GRCh38 Chromosome 1, 6474032: 6474032
185 PLEKHG5 NM_020631.4(PLEKHG5): c.572G> A (p.Arg191Gln) single nucleotide variant Uncertain significance rs541234129 GRCh37 Chromosome 1, 6534092: 6534092
186 PLEKHG5 NM_020631.4(PLEKHG5): c.412T> C (p.Phe138Leu) single nucleotide variant Uncertain significance rs1302453044 GRCh37 Chromosome 1, 6534538: 6534538
187 PLEKHG5 NM_020631.4(PLEKHG5): c.412T> C (p.Phe138Leu) single nucleotide variant Uncertain significance rs1302453044 GRCh38 Chromosome 1, 6474478: 6474478
188 PLEKHG5 NM_020631.4(PLEKHG5): c.2713C> T (p.Leu905Phe) single nucleotide variant Uncertain significance rs774696513 GRCh38 Chromosome 1, 6468123: 6468123
189 PLEKHG5 NM_020631.4(PLEKHG5): c.2713C> T (p.Leu905Phe) single nucleotide variant Uncertain significance rs774696513 GRCh37 Chromosome 1, 6528183: 6528183
190 PLEKHG5 NM_020631.4(PLEKHG5): c.2390C> T (p.Thr797Met) single nucleotide variant Uncertain significance rs111724922 GRCh38 Chromosome 1, 6468446: 6468446
191 PLEKHG5 NM_020631.4(PLEKHG5): c.2390C> T (p.Thr797Met) single nucleotide variant Uncertain significance rs111724922 GRCh37 Chromosome 1, 6528506: 6528506
192 PLEKHG5 NM_020631.4(PLEKHG5): c.2212A> G (p.Met738Val) single nucleotide variant Uncertain significance rs778686532 GRCh38 Chromosome 1, 6469079: 6469079
193 PLEKHG5 NM_020631.4(PLEKHG5): c.2212A> G (p.Met738Val) single nucleotide variant Uncertain significance rs778686532 GRCh37 Chromosome 1, 6529139: 6529139
194 PLEKHG5 NM_020631.4(PLEKHG5): c.1379G> A (p.Arg460Gln) single nucleotide variant Uncertain significance rs1309731055 GRCh38 Chromosome 1, 6471003: 6471003
195 PLEKHG5 NM_020631.4(PLEKHG5): c.1379G> A (p.Arg460Gln) single nucleotide variant Uncertain significance rs1309731055 GRCh37 Chromosome 1, 6531063: 6531063
196 PLEKHG5 NM_020631.4(PLEKHG5): c.509C> T (p.Pro170Leu) single nucleotide variant Likely benign rs59117380 GRCh38 Chromosome 1, 6474095: 6474095
197 PLEKHG5 NM_020631.4(PLEKHG5): c.509C> T (p.Pro170Leu) single nucleotide variant Likely benign rs59117380 GRCh37 Chromosome 1, 6534155: 6534155
198 PLEKHG5 NM_020631.4(PLEKHG5): c.302+6G> A single nucleotide variant Uncertain significance rs1553175409 GRCh38 Chromosome 1, 6475041: 6475041
199 PLEKHG5 NM_020631.4(PLEKHG5): c.302+6G> A single nucleotide variant Uncertain significance rs1553175409 GRCh37 Chromosome 1, 6535101: 6535101
200 PLEKHG5 NM_020631.4(PLEKHG5): c.87G> A (p.Pro29=) single nucleotide variant Benign rs140892576 GRCh38 Chromosome 1, 6475993: 6475993
201 PLEKHG5 NM_020631.4(PLEKHG5): c.87G> A (p.Pro29=) single nucleotide variant Benign rs140892576 GRCh37 Chromosome 1, 6536053: 6536053
202 PLEKHG5 NM_020631.4(PLEKHG5): c.82C> T (p.Pro28Ser) single nucleotide variant Uncertain significance rs373539850 GRCh38 Chromosome 1, 6475998: 6475998
203 PLEKHG5 NM_020631.4(PLEKHG5): c.82C> T (p.Pro28Ser) single nucleotide variant Uncertain significance rs373539850 GRCh37 Chromosome 1, 6536058: 6536058
204 PLEKHG5 NM_020631.4(PLEKHG5): c.2131C> G (p.Gln711Glu) single nucleotide variant Uncertain significance rs761272621 GRCh37 Chromosome 1, 6529220: 6529220
205 PLEKHG5 NM_020631.4(PLEKHG5): c.2131C> G (p.Gln711Glu) single nucleotide variant Uncertain significance rs761272621 GRCh38 Chromosome 1, 6469160: 6469160
206 PLEKHG5 NM_020631.4(PLEKHG5): c.2361C> T (p.Thr787=) single nucleotide variant Likely benign rs201054338 GRCh37 Chromosome 1, 6528535: 6528535
207 PLEKHG5 NM_020631.4(PLEKHG5): c.2361C> T (p.Thr787=) single nucleotide variant Likely benign rs201054338 GRCh38 Chromosome 1, 6468475: 6468475
208 PLEKHG5 NM_020631.4(PLEKHG5): c.474G> A (p.Glu158=) single nucleotide variant Likely benign rs751440606 GRCh37 Chromosome 1, 6534190: 6534190
209 PLEKHG5 NM_020631.4(PLEKHG5): c.474G> A (p.Glu158=) single nucleotide variant Likely benign rs751440606 GRCh38 Chromosome 1, 6474130: 6474130
210 PLEKHG5 NM_020631.4(PLEKHG5): c.2728C> T (p.Pro910Ser) single nucleotide variant Uncertain significance rs1334075760 GRCh37 Chromosome 1, 6528168: 6528168
211 PLEKHG5 NM_020631.4(PLEKHG5): c.2728C> T (p.Pro910Ser) single nucleotide variant Uncertain significance rs1334075760 GRCh38 Chromosome 1, 6468108: 6468108
212 PLEKHG5 NM_020631.4(PLEKHG5): c.2435C> T (p.Ser812Phe) single nucleotide variant Uncertain significance rs145009237 GRCh37 Chromosome 1, 6528461: 6528461
213 PLEKHG5 NM_020631.4(PLEKHG5): c.2435C> T (p.Ser812Phe) single nucleotide variant Uncertain significance rs145009237 GRCh38 Chromosome 1, 6468401: 6468401
214 PLEKHG5 NM_020631.4(PLEKHG5): c.1681-8G> C single nucleotide variant Likely benign rs139041955 GRCh37 Chromosome 1, 6530423: 6530423
215 PLEKHG5 NM_020631.4(PLEKHG5): c.1681-8G> C single nucleotide variant Likely benign rs139041955 GRCh38 Chromosome 1, 6470363: 6470363
216 PLEKHG5 NM_020631.4(PLEKHG5): c.1610G> A (p.Arg537Gln) single nucleotide variant Uncertain significance rs1322468026 GRCh38 Chromosome 1, 6470576: 6470576
217 PLEKHG5 NM_020631.4(PLEKHG5): c.1610G> A (p.Arg537Gln) single nucleotide variant Uncertain significance rs1322468026 GRCh37 Chromosome 1, 6530636: 6530636
218 PLEKHG5 NM_020631.4(PLEKHG5): c.1081-3C> T single nucleotide variant Uncertain significance rs772519809 GRCh38 Chromosome 1, 6471811: 6471811
219 PLEKHG5 NM_020631.4(PLEKHG5): c.1081-3C> T single nucleotide variant Uncertain significance rs772519809 GRCh37 Chromosome 1, 6531871: 6531871
220 PLEKHG5 NM_020631.4(PLEKHG5): c.168C> T (p.Gly56=) single nucleotide variant Uncertain significance rs1366828227 GRCh37 Chromosome 1, 6535564: 6535564
221 PLEKHG5 NM_020631.4(PLEKHG5): c.168C> T (p.Gly56=) single nucleotide variant Uncertain significance rs1366828227 GRCh38 Chromosome 1, 6475504: 6475504
222 PLEKHG5 NM_020631.4(PLEKHG5): c.2538C> A (p.Ser846=) single nucleotide variant Likely benign rs776995250 GRCh38 Chromosome 1, 6468298: 6468298
223 PLEKHG5 NM_020631.4(PLEKHG5): c.2538C> A (p.Ser846=) single nucleotide variant Likely benign rs776995250 GRCh37 Chromosome 1, 6528358: 6528358
224 PLEKHG5 NM_020631.4(PLEKHG5): c.2268G> A (p.Thr756=) single nucleotide variant Uncertain significance rs757831916 GRCh38 Chromosome 1, 6468568: 6468568
225 PLEKHG5 NM_020631.4(PLEKHG5): c.2268G> A (p.Thr756=) single nucleotide variant Uncertain significance rs757831916 GRCh37 Chromosome 1, 6528628: 6528628
226 PLEKHG5 NM_020631.4(PLEKHG5): c.1681-27_1681-3dup duplication Uncertain significance rs748372368 GRCh38 Chromosome 1, 6470358: 6470382
227 PLEKHG5 NM_020631.4(PLEKHG5): c.1681-27_1681-3dup duplication Uncertain significance rs748372368 GRCh37 Chromosome 1, 6530418: 6530442
228 PLEKHG5 NM_020631.4(PLEKHG5): c.1513C> T (p.Pro505Ser) single nucleotide variant Uncertain significance rs530846615 GRCh38 Chromosome 1, 6470764: 6470764
229 PLEKHG5 NM_020631.4(PLEKHG5): c.1513C> T (p.Pro505Ser) single nucleotide variant Uncertain significance rs530846615 GRCh37 Chromosome 1, 6530824: 6530824
230 PLEKHG5 NM_020631.4(PLEKHG5): c.2227G> A (p.Gly743Ser) single nucleotide variant Uncertain significance rs145073653 GRCh37 Chromosome 1, 6529124: 6529124
231 PLEKHG5 NM_020631.4(PLEKHG5): c.2227G> A (p.Gly743Ser) single nucleotide variant Uncertain significance rs145073653 GRCh38 Chromosome 1, 6469064: 6469064
232 PLEKHG5 NM_020631.4(PLEKHG5): c.38C> T (p.Pro13Leu) single nucleotide variant Uncertain significance rs776271244 GRCh38 Chromosome 1, 6477534: 6477534
233 PLEKHG5 NM_020631.4(PLEKHG5): c.38C> T (p.Pro13Leu) single nucleotide variant Uncertain significance rs776271244 GRCh37 Chromosome 1, 6537594: 6537594
234 PLEKHG5 NM_020631.4(PLEKHG5): c.1535T> A (p.Val512Asp) single nucleotide variant Uncertain significance rs548243654 GRCh37 Chromosome 1, 6530802: 6530802
235 PLEKHG5 NM_020631.4(PLEKHG5): c.1535T> A (p.Val512Asp) single nucleotide variant Uncertain significance rs548243654 GRCh38 Chromosome 1, 6470742: 6470742
236 PLEKHG5 NM_020631.4(PLEKHG5): c.1396G> C (p.Ala466Pro) single nucleotide variant Uncertain significance rs757292650 GRCh38 Chromosome 1, 6470881: 6470881
237 PLEKHG5 NM_020631.4(PLEKHG5): c.1396G> C (p.Ala466Pro) single nucleotide variant Uncertain significance rs757292650 GRCh37 Chromosome 1, 6530941: 6530941
238 PLEKHG5 NM_020631.4(PLEKHG5): c.931A> C (p.Asn311His) single nucleotide variant Uncertain significance rs146020517 GRCh38 Chromosome 1, 6473039: 6473039
239 PLEKHG5 NM_020631.4(PLEKHG5): c.931A> C (p.Asn311His) single nucleotide variant Uncertain significance rs146020517 GRCh37 Chromosome 1, 6533099: 6533099
240 PLEKHG5 NM_020631.4(PLEKHG5): c.916G> A (p.Asp306Asn) single nucleotide variant Uncertain significance rs781614887 GRCh37 Chromosome 1, 6533114: 6533114
241 PLEKHG5 NM_020631.4(PLEKHG5): c.916G> A (p.Asp306Asn) single nucleotide variant Uncertain significance rs781614887 GRCh38 Chromosome 1, 6473054: 6473054
242 PLEKHG5 NM_020631.4(PLEKHG5): c.302+10_302+11delGAinsTT indel Benign rs1553175406 GRCh38 Chromosome 1, 6475036: 6475037
243 PLEKHG5 NM_020631.4(PLEKHG5): c.302+10_302+11delGAinsTT indel Benign rs1553175406 GRCh37 Chromosome 1, 6535096: 6535097
244 PLEKHG5 NM_020631.4(PLEKHG5): c.2489T> C (p.Phe830Ser) single nucleotide variant Uncertain significance rs764007395 GRCh37 Chromosome 1, 6528407: 6528407
245 PLEKHG5 NM_020631.4(PLEKHG5): c.2489T> C (p.Phe830Ser) single nucleotide variant Uncertain significance rs764007395 GRCh38 Chromosome 1, 6468347: 6468347
246 PLEKHG5 NM_020631.4(PLEKHG5): c.1575G> C (p.Val525=) single nucleotide variant Likely benign rs1488054852 GRCh38 Chromosome 1, 6470611: 6470611
247 PLEKHG5 NM_020631.4(PLEKHG5): c.1575G> C (p.Val525=) single nucleotide variant Likely benign rs1488054852 GRCh37 Chromosome 1, 6530671: 6530671
248 PLEKHG5 NM_020631.4(PLEKHG5): c.1346T> C (p.Met449Thr) single nucleotide variant Uncertain significance rs1553174146 GRCh38 Chromosome 1, 6471036: 6471036
249 PLEKHG5 NM_020631.4(PLEKHG5): c.1346T> C (p.Met449Thr) single nucleotide variant Uncertain significance rs1553174146 GRCh37 Chromosome 1, 6531096: 6531096
250 PLEKHG5 NM_020631.4(PLEKHG5): c.1270G> A (p.Gly424Ser) single nucleotide variant Uncertain significance rs1366436495 GRCh38 Chromosome 1, 6471499: 6471499
251 PLEKHG5 NM_020631.4(PLEKHG5): c.1270G> A (p.Gly424Ser) single nucleotide variant Uncertain significance rs1366436495 GRCh37 Chromosome 1, 6531559: 6531559
252 PLEKHG5 NM_020631.4(PLEKHG5): c.1098C> G (p.Leu366=) single nucleotide variant Likely benign rs1553174372 GRCh38 Chromosome 1, 6471791: 6471791
253 PLEKHG5 NM_020631.4(PLEKHG5): c.1098C> G (p.Leu366=) single nucleotide variant Likely benign rs1553174372 GRCh37 Chromosome 1, 6531851: 6531851
254 PLEKHG5 NM_020631.4(PLEKHG5): c.1066C> T (p.Arg356Trp) single nucleotide variant Uncertain significance rs764053619 GRCh37 Chromosome 1, 6532601: 6532601
255 PLEKHG5 NM_020631.4(PLEKHG5): c.1066C> T (p.Arg356Trp) single nucleotide variant Uncertain significance rs764053619 GRCh38 Chromosome 1, 6472541: 6472541
256 PLEKHG5 NM_020631.4(PLEKHG5): c.877C> T (p.Arg293Cys) single nucleotide variant Uncertain significance rs374645103 GRCh37 Chromosome 1, 6533153: 6533153
257 PLEKHG5 NM_020631.4(PLEKHG5): c.877C> T (p.Arg293Cys) single nucleotide variant Uncertain significance rs374645103 GRCh38 Chromosome 1, 6473093: 6473093
258 PLEKHG5 NM_020631.4(PLEKHG5): c.161G> A (p.Ser54Asn) single nucleotide variant Uncertain significance rs376703933 GRCh37 Chromosome 1, 6535571: 6535571
259 PLEKHG5 NM_020631.4(PLEKHG5): c.161G> A (p.Ser54Asn) single nucleotide variant Uncertain significance rs376703933 GRCh38 Chromosome 1, 6475511: 6475511
260 PLEKHG5 NM_020631.4(PLEKHG5): c.1783G> C (p.Glu595Gln) single nucleotide variant Uncertain significance rs140597591 GRCh37 Chromosome 1, 6530313: 6530313
261 PLEKHG5 NM_020631.4(PLEKHG5): c.1783G> C (p.Glu595Gln) single nucleotide variant Uncertain significance rs140597591 GRCh38 Chromosome 1, 6470253: 6470253
262 PLEKHG5 NM_001265593.1(PLEKHG5): c.1645A> C (p.Met549Leu) single nucleotide variant Likely pathogenic rs1441260635 GRCh37 Chromosome 1, 6530899: 6530899
263 PLEKHG5 NM_001265593.1(PLEKHG5): c.1645A> C (p.Met549Leu) single nucleotide variant Likely pathogenic rs1441260635 GRCh38 Chromosome 1, 6470839: 6470839
264 PLEKHG5 NM_020631.4(PLEKHG5): c.2975G> A (p.Arg992Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 6467861: 6467861
265 PLEKHG5 NM_020631.4(PLEKHG5): c.2975G> A (p.Arg992Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 6527921: 6527921
266 PLEKHG5 NM_020631.4(PLEKHG5): c.2683C> G (p.Pro895Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 6468153: 6468153
267 PLEKHG5 NM_020631.4(PLEKHG5): c.2683C> G (p.Pro895Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 6528213: 6528213
268 PLEKHG5 NM_020631.4(PLEKHG5): c.2542C> T (p.Arg848Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 6468294: 6468294
269 PLEKHG5 NM_020631.4(PLEKHG5): c.2542C> T (p.Arg848Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 6528354: 6528354
270 PLEKHG5 NM_020631.4(PLEKHG5): c.2524C> T (p.Arg842Trp) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 6468312: 6468312
271 PLEKHG5 NM_020631.4(PLEKHG5): c.2524C> T (p.Arg842Trp) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 6528372: 6528372
272 PLEKHG5 NM_020631.4(PLEKHG5): c.1736C> T (p.Pro579Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 6470300: 6470300
273 PLEKHG5 NM_020631.4(PLEKHG5): c.1736C> T (p.Pro579Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 6530360: 6530360
274 PLEKHG5 NM_020631.4(PLEKHG5): c.1286G> C (p.Gly429Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 6471096: 6471096
275 PLEKHG5 NM_020631.4(PLEKHG5): c.1286G> C (p.Gly429Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 6531156: 6531156
276 PLEKHG5 NM_020631.4(PLEKHG5): c.89G> A (p.Arg30His) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 6536051: 6536051
277 PLEKHG5 NM_020631.4(PLEKHG5): c.89G> A (p.Arg30His) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 6475991: 6475991
278 PLEKHG5 NM_020631.4(PLEKHG5): c.2933C> T (p.Ala978Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 6467903: 6467903
279 PLEKHG5 NM_020631.4(PLEKHG5): c.2933C> T (p.Ala978Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 6527963: 6527963
280 PLEKHG5 NM_020631.4(PLEKHG5): c.2432G> A (p.Arg811His) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 6468404: 6468404
281 PLEKHG5 NM_020631.4(PLEKHG5): c.2432G> A (p.Arg811His) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 6528464: 6528464
282 PLEKHG5 NM_020631.4(PLEKHG5): c.2213T> A (p.Met738Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 6469078: 6469078
283 PLEKHG5 NM_020631.4(PLEKHG5): c.2213T> A (p.Met738Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 6529138: 6529138
284 PLEKHG5 NM_020631.4(PLEKHG5): c.1519G> A (p.Ala507Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 6470758: 6470758
285 PLEKHG5 NM_020631.4(PLEKHG5): c.1519G> A (p.Ala507Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 6530818: 6530818
286 PLEKHG5 NM_020631.4(PLEKHG5): c.1510G> A (p.Glu504Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 6470767: 6470767
287 PLEKHG5 NM_020631.4(PLEKHG5): c.1510G> A (p.Glu504Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 6530827: 6530827
288 PLEKHG5 NM_020631.4(PLEKHG5): c.1295T> C (p.Phe432Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 6471087: 6471087
289 PLEKHG5 NM_020631.4(PLEKHG5): c.1295T> C (p.Phe432Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 6531147: 6531147
290 PLEKHG5 NM_020631.4(PLEKHG5): c.1264C> T (p.Leu422Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 6471505: 6471505
291 PLEKHG5 NM_020631.4(PLEKHG5): c.1264C> T (p.Leu422Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 6531565: 6531565
292 PLEKHG5 NM_020631.4(PLEKHG5): c.823G> A (p.Gly275Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 6473147: 6473147
293 PLEKHG5 NM_020631.4(PLEKHG5): c.823G> A (p.Gly275Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 6533207: 6533207
294 PLEKHG5 NM_020631.4(PLEKHG5): c.34C> T (p.Pro12Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 6477538: 6477538
295 PLEKHG5 NM_020631.4(PLEKHG5): c.34C> T (p.Pro12Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 6537598: 6537598
296 PLEKHG5 NM_020631.4(PLEKHG5): c.2886G> A (p.Ser962=) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 6467950: 6467950
297 PLEKHG5 NM_020631.4(PLEKHG5): c.2886G> A (p.Ser962=) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 6528010: 6528010
298 PLEKHG5 NM_020631.4(PLEKHG5): c.2864A> G (p.Lys955Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 6528032: 6528032
299 PLEKHG5 NM_020631.4(PLEKHG5): c.2864A> G (p.Lys955Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 6467972: 6467972
300 PLEKHG5 NM_020631.4(PLEKHG5): c.2578C> T (p.Arg860Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 6528318: 6528318
301 PLEKHG5 NM_020631.4(PLEKHG5): c.2578C> T (p.Arg860Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 6468258: 6468258
302 PLEKHG5 NM_020631.4(PLEKHG5): c.784G> C (p.Ala262Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 6533322: 6533322
303 PLEKHG5 NM_020631.4(PLEKHG5): c.784G> C (p.Ala262Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 6473262: 6473262
304 PLEKHG5 NM_020631.4(PLEKHG5): c.607C> T (p.Arg203Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 6473439: 6473439
305 PLEKHG5 NM_020631.4(PLEKHG5): c.607C> T (p.Arg203Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 6533499: 6533499
306 PLEKHG5 NM_020631.4(PLEKHG5): c.495G> C (p.Lys165Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 6474109: 6474109
307 PLEKHG5 NM_020631.4(PLEKHG5): c.495G> C (p.Lys165Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 6534169: 6534169
308 PLEKHG5 NM_020631.4(PLEKHG5): c.415G> C (p.Gly139Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 6474475: 6474475
309 PLEKHG5 NM_020631.4(PLEKHG5): c.415G> C (p.Gly139Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 6534535: 6534535
310 PLEKHG5 NM_020631.4(PLEKHG5): c.307G> T (p.Val103Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 6474583: 6474583
311 PLEKHG5 NM_020631.4(PLEKHG5): c.307G> T (p.Val103Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 6534643: 6534643
312 PLEKHG5 NM_020631.4(PLEKHG5): c.47C> G (p.Ser16Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 6476033: 6476033
313 PLEKHG5 NM_020631.4(PLEKHG5): c.47C> G (p.Ser16Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 6536093: 6536093
314 PLEKHG5 NM_020631.4(PLEKHG5): c.1804G> A (p.Asp602Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 6529733: 6529733
315 PLEKHG5 NM_020631.4(PLEKHG5): c.1804G> A (p.Asp602Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 6469673: 6469673
316 PLEKHG5 NM_020631.4(PLEKHG5): c.767C> T (p.Ser256Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 6533339: 6533339
317 PLEKHG5 NM_020631.4(PLEKHG5): c.767C> T (p.Ser256Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 6473279: 6473279
318 PLEKHG5 NM_020631.4(PLEKHG5): c.707C> T (p.Thr236Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 6533399: 6533399
319 PLEKHG5 NM_020631.4(PLEKHG5): c.707C> T (p.Thr236Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 6473339: 6473339
320 PLEKHG5 NM_020631.4(PLEKHG5): c.292_294delAAG (p.Lys98del) deletion Uncertain significance GRCh37 Chromosome 1, 6535115: 6535117
321 PLEKHG5 NM_020631.4(PLEKHG5): c.292_294delAAG (p.Lys98del) deletion Uncertain significance GRCh38 Chromosome 1, 6475055: 6475057
322 PLEKHG5 NM_020631.4(PLEKHG5): c.124_129dup (p.Glu43_Ser44insGluGlu) duplication Uncertain significance GRCh37 Chromosome 1, 6536011: 6536016
323 PLEKHG5 NM_020631.4(PLEKHG5): c.124_129dup (p.Glu43_Ser44insGluGlu) duplication Uncertain significance GRCh38 Chromosome 1, 6475951: 6475956
324 PLEKHG5 NM_020631.4(PLEKHG5): c.86C> T (p.Pro29Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 6536054: 6536054
325 PLEKHG5 NM_020631.4(PLEKHG5): c.86C> T (p.Pro29Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 6475994: 6475994

Expression for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

Search GEO for disease gene expression data for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4.

Pathways for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

GO Terms for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

Sources for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

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