1 |
PHKG2
|
PHKG2, 1-BP INS
|
insertion |
Pathogenic |
|
|
|
2 |
PHKG2
|
NM_000294.2(PHKG2): c.566G> A (p.Gly189Glu)
|
single nucleotide variant |
Pathogenic |
rs137853588
|
GRCh37 |
Chromosome 16, 30767512: 30767512 |
3 |
PHKG2
|
NM_000294.2(PHKG2): c.566G> A (p.Gly189Glu)
|
single nucleotide variant |
Pathogenic |
rs137853588
|
GRCh38 |
Chromosome 16, 30756191: 30756191 |
4 |
PHKG2
|
NM_000294.2(PHKG2): c.317T> A (p.Val106Glu)
|
single nucleotide variant |
Pathogenic |
rs137853589
|
GRCh37 |
Chromosome 16, 30762915: 30762915 |
5 |
PHKG2
|
NM_000294.2(PHKG2): c.317T> A (p.Val106Glu)
|
single nucleotide variant |
Pathogenic |
rs137853589
|
GRCh38 |
Chromosome 16, 30751594: 30751594 |
6 |
PHKG2
|
NM_000294.2(PHKG2): c.130C> T (p.Arg44Ter)
|
single nucleotide variant |
Pathogenic |
rs137853590
|
GRCh37 |
Chromosome 16, 30762461: 30762461 |
7 |
PHKG2
|
NM_000294.2(PHKG2): c.130C> T (p.Arg44Ter)
|
single nucleotide variant |
Pathogenic |
rs137853590
|
GRCh38 |
Chromosome 16, 30751140: 30751140 |
8 |
PHKG2
|
PHKG2, 1-BP DEL, 277C
|
deletion |
Pathogenic |
|
|
|
9 |
PHKG2
|
NM_000294.2(PHKG2): c.433C> T (p.His145Tyr)
|
single nucleotide variant |
Pathogenic |
rs137853591
|
GRCh37 |
Chromosome 16, 30764755: 30764755 |
10 |
PHKG2
|
NM_000294.2(PHKG2): c.433C> T (p.His145Tyr)
|
single nucleotide variant |
Pathogenic |
rs137853591
|
GRCh38 |
Chromosome 16, 30753434: 30753434 |
11 |
PHKG2
|
NM_000294.2(PHKG2): c.677T> G (p.Leu226Arg)
|
single nucleotide variant |
Pathogenic |
rs137853592
|
GRCh37 |
Chromosome 16, 30767717: 30767717 |
12 |
PHKG2
|
NM_000294.2(PHKG2): c.677T> G (p.Leu226Arg)
|
single nucleotide variant |
Pathogenic |
rs137853592
|
GRCh38 |
Chromosome 16, 30756396: 30756396 |
13 |
PHKG2
|
NM_000294.2(PHKG2): c.174A> T (p.Thr58=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs56207641
|
GRCh37 |
Chromosome 16, 30762505: 30762505 |
14 |
PHKG2
|
NM_000294.2(PHKG2): c.174A> T (p.Thr58=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs56207641
|
GRCh38 |
Chromosome 16, 30751184: 30751184 |
15 |
PHKG2
|
NM_000294.2(PHKG2): c.1137T> C (p.Pro379=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs61731628
|
GRCh37 |
Chromosome 16, 30768334: 30768334 |
16 |
PHKG2
|
NM_000294.2(PHKG2): c.1137T> C (p.Pro379=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs61731628
|
GRCh38 |
Chromosome 16, 30757013: 30757013 |
17 |
PHKG2
|
NM_000294.2(PHKG2): c.324C> T (p.Asp108=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs138416154
|
GRCh38 |
Chromosome 16, 30751601: 30751601 |
18 |
PHKG2
|
NM_000294.2(PHKG2): c.324C> T (p.Asp108=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs138416154
|
GRCh37 |
Chromosome 16, 30762922: 30762922 |
19 |
PHKG2
|
NM_000294.2(PHKG2): c.360A> G (p.Thr120=)
|
single nucleotide variant |
Likely benign |
rs149163610
|
GRCh37 |
Chromosome 16, 30764586: 30764586 |
20 |
PHKG2
|
NM_000294.2(PHKG2): c.360A> G (p.Thr120=)
|
single nucleotide variant |
Likely benign |
rs149163610
|
GRCh38 |
Chromosome 16, 30753265: 30753265 |
21 |
PHKG2
|
NM_000294.2(PHKG2): c.1051G> A (p.Asp351Asn)
|
single nucleotide variant |
Uncertain significance |
rs151033581
|
GRCh37 |
Chromosome 16, 30768248: 30768248 |
22 |
PHKG2
|
NM_000294.2(PHKG2): c.1051G> A (p.Asp351Asn)
|
single nucleotide variant |
Uncertain significance |
rs151033581
|
GRCh38 |
Chromosome 16, 30756927: 30756927 |
23 |
PHKG2
|
NM_000294.2(PHKG2): c.214G> A (p.Glu72Lys)
|
single nucleotide variant |
Uncertain significance |
rs753644625
|
GRCh37 |
Chromosome 16, 30762545: 30762545 |
24 |
PHKG2
|
NM_000294.2(PHKG2): c.214G> A (p.Glu72Lys)
|
single nucleotide variant |
Uncertain significance |
rs753644625
|
GRCh38 |
Chromosome 16, 30751224: 30751224 |
25 |
PHKG2
|
NM_000294.2(PHKG2): c.318_319delGT (p.Phe107Terfs)
|
deletion |
Pathogenic |
|
GRCh37 |
Chromosome 16, 30762916: 30762917 |
26 |
PHKG2
|
NM_000294.2(PHKG2): c.318_319delGT (p.Phe107Terfs)
|
deletion |
Pathogenic |
|
GRCh38 |
Chromosome 16, 30751595: 30751596 |
27 |
PHKG2
|
NM_000294.2(PHKG2): c.253G> A (p.Ala85Thr)
|
single nucleotide variant |
Uncertain significance |
rs535265672
|
GRCh38 |
Chromosome 16, 30751263: 30751263 |
28 |
PHKG2
|
NM_000294.2(PHKG2): c.253G> A (p.Ala85Thr)
|
single nucleotide variant |
Uncertain significance |
rs535265672
|
GRCh37 |
Chromosome 16, 30762584: 30762584 |
29 |
PHKG2
|
NM_000294.2(PHKG2): c.671_672delTCinsAA (p.Phe224Ter)
|
indel |
Pathogenic |
|
GRCh37 |
Chromosome 16, 30767711: 30767712 |
30 |
PHKG2
|
NM_000294.2(PHKG2): c.671_672delTCinsAA (p.Phe224Ter)
|
indel |
Pathogenic |
|
GRCh38 |
Chromosome 16, 30756390: 30756391 |
31 |
PHKG2
|
NM_000294.2(PHKG2): c.553C> T (p.Arg185Ter)
|
single nucleotide variant |
Pathogenic |
|
GRCh38 |
Chromosome 16, 30753554: 30753554 |
32 |
PHKG2
|
NM_000294.2(PHKG2): c.553C> T (p.Arg185Ter)
|
single nucleotide variant |
Pathogenic |
|
GRCh37 |
Chromosome 16, 30764875: 30764875 |
33 |
PHKG2
|
NM_000294.2(PHKG2): c.920G> A (p.Arg307Gln)
|
single nucleotide variant |
Uncertain significance |
rs145390070
|
GRCh38 |
Chromosome 16, 30756708: 30756708 |
34 |
PHKG2
|
NM_000294.2(PHKG2): c.920G> A (p.Arg307Gln)
|
single nucleotide variant |
Uncertain significance |
rs145390070
|
GRCh37 |
Chromosome 16, 30768029: 30768029 |
35 |
PHKG2
|
NM_000294.2(PHKG2): c.250delG (p.Val84Serfs)
|
deletion |
Pathogenic |
|
GRCh37 |
Chromosome 16, 30762581: 30762581 |
36 |
PHKG2
|
NM_000294.2(PHKG2): c.250delG (p.Val84Serfs)
|
deletion |
Pathogenic |
|
GRCh38 |
Chromosome 16, 30751260: 30751260 |
37 |
PHKG2
|
NM_000294.2(PHKG2): c.907A> G (p.Thr303Ala)
|
single nucleotide variant |
Uncertain significance |
rs780358808
|
GRCh37 |
Chromosome 16, 30768016: 30768016 |
38 |
PHKG2
|
NM_000294.2(PHKG2): c.907A> G (p.Thr303Ala)
|
single nucleotide variant |
Uncertain significance |
rs780358808
|
GRCh38 |
Chromosome 16, 30756695: 30756695 |
39 |
PHKG2
|
NM_000294.2(PHKG2): c.224G> A (p.Arg75Gln)
|
single nucleotide variant |
Uncertain significance |
rs538127151
|
GRCh38 |
Chromosome 16, 30751234: 30751234 |
40 |
PHKG2
|
NM_000294.2(PHKG2): c.224G> A (p.Arg75Gln)
|
single nucleotide variant |
Uncertain significance |
rs538127151
|
GRCh37 |
Chromosome 16, 30762555: 30762555 |