1 |
ZNF469
|
ZNF469, 1-BP DEL, 5943A
|
deletion |
Pathogenic |
|
|
|
2 |
ZNF469
|
ZNF469, 1-BP DEL, 9527G
|
deletion |
Pathogenic |
|
|
|
3 |
ZNF469
|
NM_001127464.2(ZNF469): c.10016G> A (p.Cys3339Tyr)
|
single nucleotide variant |
Pathogenic |
rs387907062
|
GRCh37 |
Chromosome 16, 88503978: 88503978 |
4 |
ZNF469
|
NM_001127464.2(ZNF469): c.10016G> A (p.Cys3339Tyr)
|
single nucleotide variant |
Pathogenic |
rs387907062
|
GRCh38 |
Chromosome 16, 88437570: 88437570 |
5 |
ZNF469
|
NM_001127464.2(ZNF469): c.4174G> T (p.Glu1392Ter)
|
single nucleotide variant |
Pathogenic |
rs387907063
|
GRCh37 |
Chromosome 16, 88498136: 88498136 |
6 |
ZNF469
|
NM_001127464.2(ZNF469): c.4174G> T (p.Glu1392Ter)
|
single nucleotide variant |
Pathogenic |
rs387907063
|
GRCh38 |
Chromosome 16, 88431728: 88431728 |
7 |
PRDM5
|
NM_018699.3(PRDM5): c.946_1623del
|
deletion |
Pathogenic |
|
|
|
8 |
PRDM5
|
NM_018699.3(PRDM5): c.1768C> T (p.Arg590Ter)
|
single nucleotide variant |
Pathogenic |
rs387907110
|
GRCh37 |
Chromosome 4, 121616391: 121616391 |
9 |
PRDM5
|
NM_018699.3(PRDM5): c.1768C> T (p.Arg590Ter)
|
single nucleotide variant |
Pathogenic |
rs387907110
|
GRCh38 |
Chromosome 4, 120695236: 120695236 |
10 |
PRDM5
|
PRDM5, IVS1DS, G-A, +1
|
single nucleotide variant |
Pathogenic |
|
|
|
11 |
PRDM5
|
NM_018699.3(PRDM5): c.320A> G (p.Tyr107Cys)
|
single nucleotide variant |
Pathogenic |
rs387907111
|
GRCh37 |
Chromosome 4, 121742481: 121742481 |
12 |
PRDM5
|
NM_018699.3(PRDM5): c.320A> G (p.Tyr107Cys)
|
single nucleotide variant |
Pathogenic |
rs387907111
|
GRCh38 |
Chromosome 4, 120821326: 120821326 |
13 |
PRDM5
|
PRDM5, 1-BP DEL, 947G
|
deletion |
Pathogenic |
|
|
|
14 |
PRDM5
|
PRDM5, IVS1DS, T-C, +2
|
single nucleotide variant |
Pathogenic |
|
|
|
15 |
ZNF469
|
NM_001127464.2(ZNF469): c.1020C> T (p.Gly340=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs273585633
|
GRCh38 |
Chromosome 16, 88428490: 88428490 |
16 |
ZNF469
|
NM_001127464.2(ZNF469): c.1020C> T (p.Gly340=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs273585633
|
GRCh37 |
Chromosome 16, 88494898: 88494898 |
17 |
ZNF469
|
NM_001127464.2(ZNF469): c.2699C> T (p.Pro900Leu)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs273585618
|
GRCh38 |
Chromosome 16, 88430169: 88430169 |
18 |
ZNF469
|
NM_001127464.2(ZNF469): c.2699C> T (p.Pro900Leu)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs273585618
|
GRCh37 |
Chromosome 16, 88496577: 88496577 |
19 |
ZNF469
|
NM_001127464.2(ZNF469): c.9471C> G (p.Ala3157=)
|
single nucleotide variant |
Likely benign |
rs273585636
|
GRCh38 |
Chromosome 16, 88437025: 88437025 |
20 |
ZNF469
|
NM_001127464.2(ZNF469): c.9471C> G (p.Ala3157=)
|
single nucleotide variant |
Likely benign |
rs273585636
|
GRCh37 |
Chromosome 16, 88503433: 88503433 |
21 |
ZNF469
|
NM_001127464.2(ZNF469): c.1143C> A (p.Pro381=)
|
single nucleotide variant |
Benign/Likely benign |
rs74032864
|
GRCh37 |
Chromosome 16, 88495021: 88495021 |
22 |
ZNF469
|
NM_001127464.2(ZNF469): c.1143C> A (p.Pro381=)
|
single nucleotide variant |
Benign/Likely benign |
rs74032864
|
GRCh38 |
Chromosome 16, 88428613: 88428613 |
23 |
ZNF469
|
NM_001127464.2(ZNF469): c.1827G> A (p.Ser609=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs148616993
|
GRCh37 |
Chromosome 16, 88495705: 88495705 |
24 |
ZNF469
|
NM_001127464.2(ZNF469): c.1827G> A (p.Ser609=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs148616993
|
GRCh38 |
Chromosome 16, 88429297: 88429297 |
25 |
ZNF469
|
NM_001127464.2(ZNF469): c.2717C> T (p.Pro906Leu)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs77951481
|
GRCh37 |
Chromosome 16, 88496595: 88496595 |
26 |
ZNF469
|
NM_001127464.2(ZNF469): c.2717C> T (p.Pro906Leu)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs77951481
|
GRCh38 |
Chromosome 16, 88430187: 88430187 |
27 |
ZNF469
|
NM_001127464.2(ZNF469): c.3153T> C (p.Ile1051=)
|
single nucleotide variant |
Benign |
rs9924504
|
GRCh37 |
Chromosome 16, 88497031: 88497031 |
28 |
ZNF469
|
NM_001127464.2(ZNF469): c.3153T> C (p.Ile1051=)
|
single nucleotide variant |
Benign |
rs9924504
|
GRCh38 |
Chromosome 16, 88430623: 88430623 |
29 |
ZNF469
|
NM_001127464.2(ZNF469): c.457C> G (p.Pro153Ala)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs532620482
|
GRCh37 |
Chromosome 16, 88494335: 88494335 |
30 |
ZNF469
|
NM_001127464.2(ZNF469): c.457C> G (p.Pro153Ala)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs532620482
|
GRCh38 |
Chromosome 16, 88427927: 88427927 |
31 |
ZNF469
|
NM_001127464.2(ZNF469): c.1069T> C (p.Ser357Pro)
|
single nucleotide variant |
Benign |
rs11648572
|
GRCh37 |
Chromosome 16, 88494947: 88494947 |
32 |
ZNF469
|
NM_001127464.2(ZNF469): c.1069T> C (p.Ser357Pro)
|
single nucleotide variant |
Benign |
rs11648572
|
GRCh38 |
Chromosome 16, 88428539: 88428539 |
33 |
ZNF469
|
NM_001127464.2(ZNF469): c.1098A> C (p.Arg366Ser)
|
single nucleotide variant |
Benign |
rs11640794
|
GRCh37 |
Chromosome 16, 88494976: 88494976 |
34 |
ZNF469
|
NM_001127464.2(ZNF469): c.1098A> C (p.Arg366Ser)
|
single nucleotide variant |
Benign |
rs11640794
|
GRCh38 |
Chromosome 16, 88428568: 88428568 |
35 |
ZNF469
|
NM_001127464.2(ZNF469): c.10891G> A (p.Gly3631Arg)
|
single nucleotide variant |
Benign/Likely benign |
rs3812951
|
GRCh37 |
Chromosome 16, 88504853: 88504853 |
36 |
ZNF469
|
NM_001127464.2(ZNF469): c.10891G> A (p.Gly3631Arg)
|
single nucleotide variant |
Benign/Likely benign |
rs3812951
|
GRCh38 |
Chromosome 16, 88438445: 88438445 |
37 |
ZNF469
|
NM_001127464.2(ZNF469): c.10906G= (p.Ala3636=)
|
single nucleotide variant |
Benign |
rs904783
|
GRCh37 |
Chromosome 16, 88504868: 88504868 |
38 |
ZNF469
|
NM_001127464.2(ZNF469): c.10906G= (p.Ala3636=)
|
single nucleotide variant |
Benign |
rs904783
|
GRCh38 |
Chromosome 16, 88438460: 88438460 |
39 |
ZNF469
|
NM_001127464.2(ZNF469): c.9184C> T (p.Arg3062Ter)
|
single nucleotide variant |
Pathogenic |
rs764139968
|
GRCh37 |
Chromosome 16, 88503146: 88503146 |
40 |
ZNF469
|
NM_001127464.2(ZNF469): c.9184C> T (p.Arg3062Ter)
|
single nucleotide variant |
Pathogenic |
rs764139968
|
GRCh38 |
Chromosome 16, 88436738: 88436738 |
41 |
ZNF469
|
NM_001127464.2(ZNF469): c.10242G> C (p.Arg3414Ser)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs56236932
|
GRCh37 |
Chromosome 16, 88504204: 88504204 |
42 |
ZNF469
|
NM_001127464.2(ZNF469): c.10242G> C (p.Arg3414Ser)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs56236932
|
GRCh38 |
Chromosome 16, 88437796: 88437796 |
43 |
ZNF469
|
NM_001127464.2(ZNF469): c.8543A> G (p.His2848Arg)
|
single nucleotide variant |
Benign |
rs1983014
|
GRCh37 |
Chromosome 16, 88502505: 88502505 |
44 |
ZNF469
|
NM_001127464.2(ZNF469): c.8543A> G (p.His2848Arg)
|
single nucleotide variant |
Benign |
rs1983014
|
GRCh38 |
Chromosome 16, 88436097: 88436097 |
45 |
ZNF469
|
NM_001127464.2(ZNF469): c.4337C> T (p.Ala1446Val)
|
single nucleotide variant |
Benign/Likely benign |
rs199897247
|
GRCh37 |
Chromosome 16, 88498299: 88498299 |
46 |
ZNF469
|
NM_001127464.2(ZNF469): c.4337C> T (p.Ala1446Val)
|
single nucleotide variant |
Benign/Likely benign |
rs199897247
|
GRCh38 |
Chromosome 16, 88431891: 88431891 |
47 |
ZNF469
|
NM_001127464.2(ZNF469): c.3566C> T (p.Pro1189Leu)
|
single nucleotide variant |
Benign/Likely benign |
rs115183769
|
GRCh37 |
Chromosome 16, 88497528: 88497528 |
48 |
ZNF469
|
NM_001127464.2(ZNF469): c.3566C> T (p.Pro1189Leu)
|
single nucleotide variant |
Benign/Likely benign |
rs115183769
|
GRCh38 |
Chromosome 16, 88431120: 88431120 |
49 |
ZNF469
|
NM_001127464.2(ZNF469): c.7554delC (p.Ser2519Alafs)
|
deletion |
Pathogenic/Likely pathogenic |
rs886039575
|
GRCh37 |
Chromosome 16, 88501516: 88501516 |
50 |
ZNF469
|
NM_001127464.2(ZNF469): c.7554delC (p.Ser2519Alafs)
|
deletion |
Pathogenic/Likely pathogenic |
rs886039575
|
GRCh38 |
Chromosome 16, 88435108: 88435108 |