1 |
EYA1
|
NM_000503.5(EYA1): c.922C> T (p.Arg308Ter)
|
single nucleotide variant |
Pathogenic |
rs121909195
|
GRCh37 |
Chromosome 8, 72184037: 72184037 |
2 |
EYA1
|
NM_000503.5(EYA1): c.922C> T (p.Arg308Ter)
|
single nucleotide variant |
Pathogenic |
rs121909195
|
GRCh38 |
Chromosome 8, 71271802: 71271802 |
3 |
EYA1
|
EYA1, 1-BP DEL AND 2-BP INS, 1251T-CC
|
indel |
Pathogenic |
|
|
|
4 |
EYA1
|
EYA1, ALU INS, EX10
|
insertion |
Pathogenic |
|
|
|
5 |
EYA1
|
NM_000503.5(EYA1): c.1695_1698delAAAG (p.Lys565Asnfs)
|
deletion |
Pathogenic |
rs606231355
|
GRCh38 |
Chromosome 8, 71211156: 71211159 |
6 |
EYA1
|
NM_000503.5(EYA1): c.1695_1698delAAAG (p.Lys565Asnfs)
|
deletion |
Pathogenic |
rs606231355
|
GRCh37 |
Chromosome 8, 72123391: 72123394 |
7 |
EYA1
|
NM_000503.5(EYA1): c.1319G> A (p.Arg440Gln)
|
single nucleotide variant |
Pathogenic |
rs121909196
|
GRCh37 |
Chromosome 8, 72128968: 72128968 |
8 |
EYA1
|
NM_000503.5(EYA1): c.1319G> A (p.Arg440Gln)
|
single nucleotide variant |
Pathogenic |
rs121909196
|
GRCh38 |
Chromosome 8, 71216733: 71216733 |
9 |
EYA1
|
NM_000503.5(EYA1): c.1276G> A (p.Gly426Ser)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs121909199
|
GRCh37 |
Chromosome 8, 72129011: 72129011 |
10 |
EYA1
|
NM_000503.5(EYA1): c.1276G> A (p.Gly426Ser)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs121909199
|
GRCh38 |
Chromosome 8, 71216776: 71216776 |
11 |
EYA1
|
EYA1, 1-BP INS, 387T
|
insertion |
Pathogenic |
|
|
|
12 |
EYA1
|
NM_000503.5(EYA1): c.1459T> C (p.Ser487Pro)
|
single nucleotide variant |
Pathogenic |
rs121909200
|
GRCh37 |
Chromosome 8, 72127865: 72127865 |
13 |
EYA1
|
NM_000503.5(EYA1): c.1459T> C (p.Ser487Pro)
|
single nucleotide variant |
Pathogenic |
rs121909200
|
GRCh38 |
Chromosome 8, 71215630: 71215630 |
14 |
EYA1
|
NM_000503.5(EYA1): c.1514T> G (p.Leu505Arg)
|
single nucleotide variant |
Pathogenic |
rs121909201
|
GRCh37 |
Chromosome 8, 72127705: 72127705 |
15 |
EYA1
|
NM_000503.5(EYA1): c.1514T> G (p.Leu505Arg)
|
single nucleotide variant |
Pathogenic |
rs121909201
|
GRCh38 |
Chromosome 8, 71215470: 71215470 |
16 |
EYA1
|
NM_000503.5(EYA1): c.1081C> T (p.Arg361Ter)
|
single nucleotide variant |
Pathogenic |
rs121909202
|
GRCh37 |
Chromosome 8, 72156897: 72156897 |
17 |
EYA1
|
NM_000503.5(EYA1): c.1081C> T (p.Arg361Ter)
|
single nucleotide variant |
Pathogenic |
rs121909202
|
GRCh38 |
Chromosome 8, 71244662: 71244662 |
18 |
EYA1
|
NM_000503.5(EYA1): c.966+5G> A
|
single nucleotide variant |
Pathogenic |
rs606231357
|
GRCh38 |
Chromosome 8, 71271753: 71271753 |
19 |
EYA1
|
NM_000503.5(EYA1): c.966+5G> A
|
single nucleotide variant |
Pathogenic |
rs606231357
|
GRCh37 |
Chromosome 8, 72183988: 72183988 |
20 |
SIX1
|
NM_005982.3(SIX1): c.386A> G (p.Tyr129Cys)
|
single nucleotide variant |
Pathogenic |
rs104894478
|
GRCh37 |
Chromosome 14, 61115522: 61115522 |
21 |
SIX1
|
NM_005982.3(SIX1): c.386A> G (p.Tyr129Cys)
|
single nucleotide variant |
Pathogenic |
rs104894478
|
GRCh38 |
Chromosome 14, 60648804: 60648804 |
22 |
EYA1
|
NM_000503.5(EYA1): c.1361-1G> T
|
single nucleotide variant |
Pathogenic |
rs397517917
|
GRCh38 |
Chromosome 8, 71215729: 71215729 |
23 |
EYA1
|
NM_000503.5(EYA1): c.1579T> A (p.Tyr527Asn)
|
single nucleotide variant |
Likely pathogenic |
rs397517918
|
GRCh37 |
Chromosome 8, 72127640: 72127640 |
24 |
EYA1
|
NM_000503.5(EYA1): c.1579T> A (p.Tyr527Asn)
|
single nucleotide variant |
Likely pathogenic |
rs397517918
|
GRCh38 |
Chromosome 8, 71215405: 71215405 |
25 |
EYA1
|
NM_000503.5(EYA1): c.1697_1698insT (p.Lys566Asnfs)
|
insertion |
Pathogenic |
rs397517919
|
GRCh37 |
Chromosome 8, 72123391: 72123392 |
26 |
EYA1
|
NM_000503.5(EYA1): c.1697_1698insT (p.Lys566Asnfs)
|
insertion |
Pathogenic |
rs397517919
|
GRCh38 |
Chromosome 8, 71211156: 71211157 |
27 |
EYA1
|
NM_000503.5(EYA1): c.1122delA (p.Leu374Phefs)
|
deletion |
Pathogenic |
rs397517916
|
GRCh37 |
Chromosome 8, 72156856: 72156856 |
28 |
EYA1
|
NM_000503.5(EYA1): c.1122delA (p.Leu374Phefs)
|
deletion |
Pathogenic |
rs397517916
|
GRCh38 |
Chromosome 8, 71244621: 71244621 |
29 |
EYA1
|
NM_000503.5(EYA1): c.1361-1G> T
|
single nucleotide variant |
Pathogenic |
rs397517917
|
GRCh37 |
Chromosome 8, 72127964: 72127964 |
30 |
EYA1
|
NM_000503.5(EYA1): c.1748T> C (p.Leu583Pro)
|
single nucleotide variant |
Likely pathogenic |
rs397517920
|
GRCh37 |
Chromosome 8, 72111606: 72111606 |
31 |
EYA1
|
NM_000503.5(EYA1): c.1748T> C (p.Leu583Pro)
|
single nucleotide variant |
Likely pathogenic |
rs397517920
|
GRCh38 |
Chromosome 8, 71199371: 71199371 |
32 |
SIX1
|
NM_005982.3(SIX1): c.317T> G (p.Val106Gly)
|
single nucleotide variant |
Pathogenic |
rs397515560
|
GRCh37 |
Chromosome 14, 61115591: 61115591 |
33 |
SIX1
|
NM_005982.3(SIX1): c.317T> G (p.Val106Gly)
|
single nucleotide variant |
Pathogenic |
rs397515560
|
GRCh38 |
Chromosome 14, 60648873: 60648873 |
34 |
SIX1
|
NM_005982.3(SIX1): c.334C> T (p.Arg112Cys)
|
single nucleotide variant |
Pathogenic |
rs397515561
|
GRCh37 |
Chromosome 14, 61115574: 61115574 |
35 |
SIX1
|
NM_005982.3(SIX1): c.334C> T (p.Arg112Cys)
|
single nucleotide variant |
Pathogenic |
rs397515561
|
GRCh38 |
Chromosome 14, 60648856: 60648856 |
36 |
SIX1
|
NM_005982.3(SIX1): c.50T> A (p.Val17Glu)
|
single nucleotide variant |
Pathogenic |
rs397515562
|
GRCh37 |
Chromosome 14, 61115858: 61115858 |
37 |
SIX1
|
NM_005982.3(SIX1): c.50T> A (p.Val17Glu)
|
single nucleotide variant |
Pathogenic |
rs397515562
|
GRCh38 |
Chromosome 14, 60649140: 60649140 |
38 |
EYA1
|
NM_172058.2(EYA1): c.(?_-66)_(*76_?)del
|
deletion |
Pathogenic |
|
GRCh37 |
Chromosome 8, 72111499: 72268758 |
39 |
EYA1
|
NM_172058.2(EYA1): c.(?_-66)_(*76_?)del
|
deletion |
Pathogenic |
|
GRCh38 |
Chromosome 8, 71199264: 71356523 |
40 |
EYA1
|
NM_000503.5(EYA1): c.1475+1G> C
|
single nucleotide variant |
Pathogenic |
rs727503042
|
GRCh37 |
Chromosome 8, 72127848: 72127848 |
41 |
EYA1
|
NM_000503.5(EYA1): c.1475+1G> C
|
single nucleotide variant |
Pathogenic |
rs727503042
|
GRCh38 |
Chromosome 8, 71215613: 71215613 |
42 |
EYA1
|
NM_000503.5(EYA1): c.840C> A (p.Ile280=)
|
single nucleotide variant |
Benign/Likely benign |
rs55972891
|
GRCh37 |
Chromosome 8, 72184119: 72184119 |
43 |
EYA1
|
NM_000503.5(EYA1): c.840C> A (p.Ile280=)
|
single nucleotide variant |
Benign/Likely benign |
rs55972891
|
GRCh38 |
Chromosome 8, 71271884: 71271884 |
44 |
EYA1
|
NM_000503.5(EYA1): c.428G> A (p.Trp143Ter)
|
single nucleotide variant |
Pathogenic |
rs727504494
|
GRCh38 |
Chromosome 8, 71317680: 71317680 |
45 |
EYA1
|
NM_000503.5(EYA1): c.428G> A (p.Trp143Ter)
|
single nucleotide variant |
Pathogenic |
rs727504494
|
GRCh37 |
Chromosome 8, 72229915: 72229915 |
46 |
EYA1
|
NM_000503.5(EYA1): c.164C> T (p.Thr55Met)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs201434219
|
GRCh38 |
Chromosome 8, 71334135: 71334135 |
47 |
EYA1
|
NM_000503.5(EYA1): c.164C> T (p.Thr55Met)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs201434219
|
GRCh37 |
Chromosome 8, 72246370: 72246370 |
48 |
EYA1
|
NM_000503.5(EYA1): c.671G> T (p.Gly224Val)
|
single nucleotide variant |
Uncertain significance |
rs201509408
|
GRCh38 |
Chromosome 8, 71299202: 71299202 |
49 |
EYA1
|
NM_000503.5(EYA1): c.671G> T (p.Gly224Val)
|
single nucleotide variant |
Uncertain significance |
rs201509408
|
GRCh37 |
Chromosome 8, 72211437: 72211437 |
50 |
EYA1
|
NM_000503.5(EYA1): c.403G> A (p.Gly135Ser)
|
single nucleotide variant |
Uncertain significance |
rs747476629
|
GRCh37 |
Chromosome 8, 72233984: 72233984 |