1 |
PNPLA6
|
NM_006702.4(PNPLA6): c.3034A> G (p.Met1012Val)
|
single nucleotide variant |
Pathogenic |
rs121434415
|
GRCh37 |
Chromosome 19, 7621393: 7621393 |
2 |
PNPLA6
|
NM_006702.4(PNPLA6): c.3034A> G (p.Met1012Val)
|
single nucleotide variant |
Pathogenic |
rs121434415
|
GRCh38 |
Chromosome 19, 7556507: 7556507 |
3 |
PNPLA6
|
NM_006702.4(PNPLA6): c.2669G> A (p.Arg890His)
|
single nucleotide variant |
Pathogenic |
rs121434416
|
GRCh37 |
Chromosome 19, 7619927: 7619927 |
4 |
PNPLA6
|
NM_006702.4(PNPLA6): c.2669G> A (p.Arg890His)
|
single nucleotide variant |
Pathogenic |
rs121434416
|
GRCh38 |
Chromosome 19, 7555041: 7555041 |
5 |
PNPLA6
|
NM_006702.4(PNPLA6): c.2944_2947dupAGCC (p.Arg983Glnfs)
|
duplication |
Pathogenic |
rs606231167
|
GRCh38 |
Chromosome 19, 7555728: 7555731 |
6 |
PNPLA6
|
NM_006702.4(PNPLA6): c.2944_2947dupAGCC (p.Arg983Glnfs)
|
duplication |
Pathogenic |
rs606231167
|
GRCh37 |
Chromosome 19, 7620614: 7620617 |
7 |
PNPLA6
|
NM_001166111.1(PNPLA6): c.787G> A (p.Val263Ile)
|
single nucleotide variant |
Pathogenic |
rs587777184
|
GRCh38 |
Chromosome 19, 7540675: 7540675 |
8 |
PNPLA6
|
NM_001166111.1(PNPLA6): c.787G> A (p.Val263Ile)
|
single nucleotide variant |
Pathogenic |
rs587777184
|
GRCh37 |
Chromosome 19, 7605561: 7605561 |
9 |
PNPLA6
|
NM_006702.4(PNPLA6): c.2375G> A (p.Gly792Glu)
|
single nucleotide variant |
Pathogenic |
rs587777185
|
GRCh38 |
Chromosome 19, 7554578: 7554578 |
10 |
PNPLA6
|
NM_006702.4(PNPLA6): c.2375G> A (p.Gly792Glu)
|
single nucleotide variant |
Pathogenic |
rs587777185
|
GRCh37 |
Chromosome 19, 7619464: 7619464 |
11 |
PNPLA6
|
NM_006702.4(PNPLA6): c.3964G> A (p.Gly1322Ser)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs145178162
|
GRCh37 |
Chromosome 19, 7626428: 7626428 |
12 |
PNPLA6
|
NM_006702.4(PNPLA6): c.3964G> A (p.Gly1322Ser)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs145178162
|
GRCh38 |
Chromosome 19, 7561542: 7561542 |
13 |
PNPLA6
|
NM_006702.4(PNPLA6): c.2T> C (p.Met1Thr)
|
single nucleotide variant |
Uncertain significance |
rs765249233
|
GRCh37 |
Chromosome 19, 7600438: 7600438 |
14 |
PNPLA6
|
NM_006702.4(PNPLA6): c.2T> C (p.Met1Thr)
|
single nucleotide variant |
Uncertain significance |
rs765249233
|
GRCh38 |
Chromosome 19, 7535552: 7535552 |
15 |
PNPLA6
|
NM_006702.4(PNPLA6): c.45C> T (p.Ile15=)
|
single nucleotide variant |
Benign |
rs200310048
|
GRCh38 |
Chromosome 19, 7535950: 7535950 |
16 |
PNPLA6
|
NM_006702.4(PNPLA6): c.45C> T (p.Ile15=)
|
single nucleotide variant |
Benign |
rs200310048
|
GRCh37 |
Chromosome 19, 7600836: 7600836 |
17 |
MCOLN1; PNPLA6
|
NM_006702.4(PNPLA6): c.64G> C (p.Val22Leu)
|
single nucleotide variant |
Benign/Likely benign |
rs112732576
|
GRCh37 |
Chromosome 19, 7600855: 7600855 |
18 |
MCOLN1; PNPLA6
|
NM_006702.4(PNPLA6): c.64G> C (p.Val22Leu)
|
single nucleotide variant |
Benign/Likely benign |
rs112732576
|
GRCh38 |
Chromosome 19, 7535969: 7535969 |
19 |
PNPLA6
|
NM_006702.4(PNPLA6): c.116-8A> G
|
single nucleotide variant |
Likely benign |
rs369490744
|
GRCh37 |
Chromosome 19, 7601069: 7601069 |
20 |
PNPLA6
|
NM_006702.4(PNPLA6): c.116-8A> G
|
single nucleotide variant |
Likely benign |
rs369490744
|
GRCh38 |
Chromosome 19, 7536183: 7536183 |
21 |
PNPLA6
|
NM_006702.4(PNPLA6): c.3610G> A (p.Ala1204Thr)
|
single nucleotide variant |
Uncertain significance |
rs755872517
|
GRCh38 |
Chromosome 19, 7560672: 7560672 |
22 |
PNPLA6
|
NM_006702.4(PNPLA6): c.1340C> T (p.Pro447Leu)
|
single nucleotide variant |
Benign/Likely benign |
rs145191932
|
GRCh37 |
Chromosome 19, 7607741: 7607741 |
23 |
PNPLA6
|
NM_006702.4(PNPLA6): c.1340C> T (p.Pro447Leu)
|
single nucleotide variant |
Benign/Likely benign |
rs145191932
|
GRCh38 |
Chromosome 19, 7542855: 7542855 |
24 |
PNPLA6
|
NM_006702.4(PNPLA6): c.1587C> G (p.Pro529=)
|
single nucleotide variant |
Benign |
rs62111288
|
GRCh37 |
Chromosome 19, 7614888: 7614888 |
25 |
PNPLA6
|
NM_006702.4(PNPLA6): c.1587C> G (p.Pro529=)
|
single nucleotide variant |
Benign |
rs62111288
|
GRCh38 |
Chromosome 19, 7550002: 7550002 |
26 |
PNPLA6
|
NM_006702.4(PNPLA6): c.2980-5C> T
|
single nucleotide variant |
Benign |
rs116788699
|
GRCh37 |
Chromosome 19, 7621334: 7621334 |
27 |
PNPLA6
|
NM_006702.4(PNPLA6): c.2980-5C> T
|
single nucleotide variant |
Benign |
rs116788699
|
GRCh38 |
Chromosome 19, 7556448: 7556448 |
28 |
PNPLA6
|
NM_006702.4(PNPLA6): c.2981G> C (p.Ser994Thr)
|
single nucleotide variant |
Uncertain significance |
rs377449787
|
GRCh37 |
Chromosome 19, 7621340: 7621340 |
29 |
PNPLA6
|
NM_006702.4(PNPLA6): c.2981G> C (p.Ser994Thr)
|
single nucleotide variant |
Uncertain significance |
rs377449787
|
GRCh38 |
Chromosome 19, 7556454: 7556454 |
30 |
PNPLA6
|
NM_006702.4(PNPLA6): c.3261C> T (p.Gly1087=)
|
single nucleotide variant |
Likely benign |
rs375987938
|
GRCh38 |
Chromosome 19, 7557262: 7557262 |
31 |
PNPLA6
|
NM_006702.4(PNPLA6): c.3261C> T (p.Gly1087=)
|
single nucleotide variant |
Likely benign |
rs375987938
|
GRCh37 |
Chromosome 19, 7622148: 7622148 |
32 |
PNPLA6
|
NM_006702.4(PNPLA6): c.3336G> A (p.Gly1112=)
|
single nucleotide variant |
Likely benign |
rs367675784
|
GRCh37 |
Chromosome 19, 7623788: 7623788 |
33 |
PNPLA6
|
NM_006702.4(PNPLA6): c.3336G> A (p.Gly1112=)
|
single nucleotide variant |
Likely benign |
rs367675784
|
GRCh38 |
Chromosome 19, 7558902: 7558902 |
34 |
PNPLA6
|
NM_006702.4(PNPLA6): c.3381C> T (p.Ser1127=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs138837774
|
GRCh38 |
Chromosome 19, 7558947: 7558947 |
35 |
PNPLA6
|
NM_006702.4(PNPLA6): c.3381C> T (p.Ser1127=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs138837774
|
GRCh37 |
Chromosome 19, 7623833: 7623833 |
36 |
PNPLA6
|
NM_006702.4(PNPLA6): c.3489G> A (p.Gln1163=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs112133109
|
GRCh37 |
Chromosome 19, 7623941: 7623941 |
37 |
PNPLA6
|
NM_006702.4(PNPLA6): c.3489G> A (p.Gln1163=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs112133109
|
GRCh38 |
Chromosome 19, 7559055: 7559055 |
38 |
PNPLA6
|
NM_006702.4(PNPLA6): c.3610G> A (p.Ala1204Thr)
|
single nucleotide variant |
Uncertain significance |
rs755872517
|
GRCh37 |
Chromosome 19, 7625558: 7625558 |
39 |
PNPLA6
|
NM_006702.4(PNPLA6): c.3654G> T (p.Met1218Ile)
|
single nucleotide variant |
Uncertain significance |
rs878854905
|
GRCh37 |
Chromosome 19, 7625602: 7625602 |
40 |
PNPLA6
|
NM_006702.4(PNPLA6): c.3654G> T (p.Met1218Ile)
|
single nucleotide variant |
Uncertain significance |
rs878854905
|
GRCh38 |
Chromosome 19, 7560716: 7560716 |
41 |
MCOLN1; PNPLA6
|
NM_006702.4(PNPLA6): c.56T> C (p.Val19Ala)
|
single nucleotide variant |
Benign/Likely benign |
rs188353745
|
GRCh37 |
Chromosome 19, 7600847: 7600847 |
42 |
MCOLN1; PNPLA6
|
NM_006702.4(PNPLA6): c.56T> C (p.Val19Ala)
|
single nucleotide variant |
Benign/Likely benign |
rs188353745
|
GRCh38 |
Chromosome 19, 7535961: 7535961 |
43 |
PNPLA6
|
NM_001166111.1(PNPLA6): c.2160G> A (p.Leu720=)
|
single nucleotide variant |
Benign |
rs113335442
|
GRCh37 |
Chromosome 19, 7615942: 7615942 |
44 |
PNPLA6
|
NM_001166111.1(PNPLA6): c.2160G> A (p.Leu720=)
|
single nucleotide variant |
Benign |
rs113335442
|
GRCh38 |
Chromosome 19, 7551056: 7551056 |
45 |
PNPLA6
|
NM_001166111.1(PNPLA6): c.2736C> T (p.Gly912=)
|
single nucleotide variant |
Benign |
rs113264142
|
GRCh37 |
Chromosome 19, 7619850: 7619850 |
46 |
PNPLA6
|
NM_001166111.1(PNPLA6): c.2736C> T (p.Gly912=)
|
single nucleotide variant |
Benign |
rs113264142
|
GRCh38 |
Chromosome 19, 7554964: 7554964 |
47 |
PNPLA6
|
NM_006702.4(PNPLA6): c.1563C> T (p.Asp521=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs761103593
|
GRCh38 |
Chromosome 19, 7549978: 7549978 |
48 |
PNPLA6
|
NM_006702.4(PNPLA6): c.1563C> T (p.Asp521=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs761103593
|
GRCh37 |
Chromosome 19, 7614864: 7614864 |
49 |
PNPLA6
|
NM_006702.4(PNPLA6): c.3435T> C (p.Val1145=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs35770729
|
GRCh38 |
Chromosome 19, 7559001: 7559001 |
50 |
PNPLA6
|
NM_006702.4(PNPLA6): c.3435T> C (p.Val1145=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs35770729
|
GRCh37 |
Chromosome 19, 7623887: 7623887 |