Total 33 pathogenic variants reported for Gabriele de Vries syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_003403.5(YY1):c.1138G>T (p.Asp380Tyr) SNV
Germline		 Chr14:100277493 Pathogenic Gabriele de Vries syndrome No Assertion Criteria Provided
 CA390969516 rs_1131692043

1 SubmittersRCV000494725
NM_003403.5(YY1):c.1097T>C (p.Leu366Pro) SNV
Germline		 Chr14:100277452 Pathogenic Gabriele de Vries syndrome No Assertion Criteria Provided
 CA390969338 rs_1131692163

1 SubmittersRCV000494727
NM_003403.5(YY1):c.1096C>G (p.Leu366Val) SNV
Germline		 Chr14:100277451 Pathogenic Gabriele de Vries syndrome No Assertion Criteria Provided
 CA390969334 rs_1131692044

1 SubmittersRCV000494721
NM_003403.5(YY1):c.1030C>T (p.Gln344Ter) SNV
Germline		 Chr14:100276616 Pathogenic Gabriele de Vries syndrome No Assertion Criteria Provided
 CA390968945 rs_1131692045

1 SubmittersRCV000494726
NM_003403.5(YY1):c.535A>T (p.Lys179Ter) SNV
Germline		 Chr14:100239779 Pathogenic Gabriele de Vries syndrome No Assertion Criteria Provided
 CA390972436 rs_1131692046

1 SubmittersRCV000494728
NM_003403.5(YY1):c.1118A>G (p.His373Arg) SNV
Germline		 Chr14:100277473 Likely pathogenic Gabriele de Vries syndrome Criteria Provided
Single Submitter
 CA390969433 rs_1891340236

1 SubmittersRCV001254142
NM_003403.5(YY1):c.527G>A (p.Gly176Asp) SNV
Unknown		 Chr14:100239771 Likely pathogenic Gabriele de Vries syndrome Criteria Provided
Single Submitter
 CA390972396 rs_1890697895

1 SubmittersRCV001331054
NM_003403.5(YY1):c.1106A>G (p.Asn369Ser) SNV
Germline		 Chr14:100277461 Pathogenic/Likely pathogenic Gabriele de Vries syndrome
Intellectual disability
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA390969383 rs_2139605753

3 SubmittersRCV001779355RCV002295351RCV004779136
NM_003403.5(YY1):c.1124G>A (p.Arg375Gln) SNV
Germline		 Chr14:100277479 Pathogenic/Likely pathogenic Condition: not provided
Gabriele de Vries syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA390969459 rs_2139605796

4 SubmittersRCV001806896RCV005860260
NM_003403.5(YY1):c.1121T>G (p.Val374Gly) SNV
Germline		 Chr14:100277476 Likely pathogenic Gabriele de Vries syndrome Criteria Provided
Single Submitter
 CA390969451 rs_2139605785

1 SubmittersRCV002227001
NM_003403.5(YY1):c.1062+1G>A SNV
Germline		 Chr14:100276649 Pathogenic Gabriele de Vries syndrome Criteria Provided
Single Submitter
 CA390969098 rs_2139604254

1 SubmittersRCV002227415
NM_003403.5(YY1):c.1036G>T (p.Val346Phe) SNV
Unknown		 Chr14:100276622 Likely pathogenic Gabriele de Vries syndrome Criteria Provided
Single Submitter
 CA390968979 rs_2549138613

1 SubmittersRCV002287620
NM_003403.5(YY1):c.1062G>A (p.Gln354=) SNV
Germline		 Chr14:100276648 Likely pathogenic Gabriele de Vries syndrome No Assertion Criteria Provided
 CA487885602 rs_2549138621

1 SubmittersRCV002291110
NM_003403.5(YY1):c.1057T>C (p.Phe353Leu) SNV
Germline		 Chr14:100276643 Likely pathogenic Gabriele de Vries syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA390969069 rs_2549138620

2 SubmittersRCV003110133
NM_003403.5(YY1):c.194A>G (p.His65Arg) SNV
Germline		 Chr14:100239438 Conflicting classifications of pathogenicity Gabriele de Vries syndrome
Inborn genetic diseases
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7343947 rs_376271434

3 SubmittersRCV003139388RCV003239321RCV003395711
NM_003403.5(YY1):c.1112G>A (p.Arg371His) SNV
Unknown		 Chr14:100277467 Likely pathogenic Gabriele de Vries syndrome Criteria Provided
Single Submitter
 CA390969409 rs_2549139334

1 SubmittersRCV003148265
NM_003403.5(YY1):c.1102T>C (p.Phe368Leu) SNV
Germline		 Chr14:100277457 Likely pathogenic Gabriele de Vries syndrome Criteria Provided
Single Submitter
 CA390969360 rs_2549139328

1 SubmittersRCV003333895
NM_003403.5(YY1):c.1192A>G (p.Thr398Ala) SNV
Germline		 Chr14:100277547 Likely pathogenic Gabriele de Vries syndrome Criteria Provided
Single Submitter
 CA390969782 rs_2549139366

1 SubmittersRCV003388878
NM_003403.5(YY1):c.1025G>A (p.Arg342Gln) SNV
Germline		 Chr14:100276611 Conflicting classifications of pathogenicity Gabriele de Vries syndrome Criteria Provided
Conflicting Classifications
 CA390968923 rs_2549138607

3 SubmittersRCV003445297
NM_003403.5(YY1):c.980G>A (p.Cys327Tyr) SNV
Germline		 Chr14:100276566 Pathogenic Gabriele de Vries syndrome Criteria Provided
Single Submitter
 rs_1189366704

1 SubmittersRCV004595123
NM_003403.5(YY1):c.842+1G>C SNV
Unknown		 Chr14:100262467 Likely pathogenic Gabriele de Vries syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005215806
NM_003403.5(YY1):c.1024C>T (p.Arg342Ter) SNV
Germline		 Chr14:100276610 Pathogenic Gabriele de Vries syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005622906
NM_003403.5(YY1):c.1062+1G>T SNV
Germline		 Chr14:100276649 Likely pathogenic Gabriele de Vries syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005886052
NM_003403.5(YY1):c.1043C>T (p.Thr348Ile) SNV
Germline		 Chr14:100276629 Likely pathogenic Gabriele de Vries syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006253440
NM_003403.5(YY1):c.1175A>C (p.Lys392Thr) SNV
Germline		 Chr14:100277530 Likely pathogenic Gabriele de Vries syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006257681