Total 42 pathogenic variants reported for 46,XY sex reversal 1 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_003140.3(SRY):c.326T>C (p.Phe109Ser) SNV
Germline		 ChrY:2787278 Pathogenic 46,XY sex reversal 1 No Assertion Criteria Provided
 CA254865 rs_104894956

1 SubmittersRCV000010391
NM_003140.3(SRY):c.178G>C (p.Val60Leu) SNV
Germline		 ChrY:2787426 Pathogenic 46,XY sex reversal 1
Condition: not provided		 Criteria Provided
Single Submitter
 CA254866 rs_104894957

2 SubmittersRCV000010392RCV002460889
NM_003140.3(SRY):c.277C>T (p.Gln93Ter) SNV
Germline		 ChrY:2787327 Pathogenic 46,XY sex reversal 1 No Assertion Criteria Provided
 CA254867 rs_104894958

1 SubmittersRCV000010393
NM_003140.3(SRY):c.270C>G (p.Ile90Met) SNV
Germline		 ChrY:2787334 Pathogenic 46,XY true hermaphroditism, SRY-related
46,XY sex reversal 1		 No Assertion Criteria Provided
 CA210695 rs_104894959

1 SubmittersRCV000010395RCV000010394
NM_003140.3(SRY):c.317A>T (p.Lys106Ile) SNV
Germline		 ChrY:2787287 Pathogenic 46,XY sex reversal 1 No Assertion Criteria Provided
 CA254869 rs_104894964

1 SubmittersRCV000010396
NM_003140.3(SRY):c.337G>A (p.Ala113Thr) SNV
Germline		 ChrY:2787267 Pathogenic 46,XY sex reversal 1 No Assertion Criteria Provided
 CA254871 rs_104894966

1 SubmittersRCV000010398
NM_003140.3(SRY):c.320G>A (p.Trp107Ter) SNV
Germline		 ChrY:2787284 Pathogenic 46,XY sex reversal 1 No Assertion Criteria Provided
 CA254872 rs_104894967

1 SubmittersRCV000010399
NM_003140.3(SRY):c.203T>C (p.Ile68Thr) SNV
Germline		 ChrY:2787401 Pathogenic 46,XY sex reversal 1 Criteria Provided
Single Submitter
 CA254874 rs_104894968

2 SubmittersRCV000010400
NM_003140.3(SRY):c.192G>A (p.Met64Ile) SNV
Germline		 ChrY:2787412 Pathogenic 46,XY sex reversal 1 No Assertion Criteria Provided
 CA254875 rs_104894969

1 SubmittersRCV000010401
NM_003140.3(SRY):c.209G>A (p.Trp70Ter) SNV
Germline		 ChrY:2787395 Pathogenic 46,XY sex reversal 1 No Assertion Criteria Provided
 CA254876 rs_104894965

1 SubmittersRCV000010402
NM_003140.3(SRY):c.274A>T (p.Lys92Ter) SNV
Germline		 ChrY:2787330 Pathogenic 46,XY sex reversal 1 No Assertion Criteria Provided
 CA254878 rs_104894970

1 SubmittersRCV000010403
NM_003140.3(SRY):c.283G>C (p.Gly95Arg) SNV
Germline		 ChrY:2787321 Pathogenic 46,XY sex reversal 1 No Assertion Criteria Provided
 CA254880 rs_104894974

1 SubmittersRCV000010404
NM_003140.3(SRY):c.12T>A (p.Tyr4Ter) SNV
Germline		 ChrY:2787592 Pathogenic 46,XY sex reversal 1 No Assertion Criteria Provided
 CA254881 rs_104894975

1 SubmittersRCV000010405
NM_003140.3(SRY):c.397C>T (p.Arg133Trp) SNV
Germline		 ChrY:2787207 Pathogenic 46,XY sex reversal 1 No Assertion Criteria Provided
 CA254883 rs_104894976

1 SubmittersRCV000010406
NM_003140.3(SRY):c.4C>T (p.Gln2Ter) SNV
Germline		 ChrY:2787600 Pathogenic 46,XY sex reversal 1 No Assertion Criteria Provided
 CA254884 rs_104894977

1 SubmittersRCV000010407
NM_003140.3(SRY):c.53G>A (p.Ser18Asn) SNV
Germline		 ChrY:2787551 Pathogenic 46,XY sex reversal 1 No Assertion Criteria Provided
 CA254886 rs_104894971

1 SubmittersRCV000010408
NM_003140.3(SRY):c.284G>A (p.Gly95Glu) SNV
Germline		 ChrY:2787320 Pathogenic 46,XY sex reversal 1 No Assertion Criteria Provided
 CA254887 rs_104894972

1 SubmittersRCV000010409
NM_003140.3(SRY):c.380A>T (p.Tyr127Phe) SNV
Germline		 ChrY:2787224 Pathogenic 46,XY sex reversal 1 No Assertion Criteria Provided
 CA254888 rs_104894973

1 SubmittersRCV000010410
NM_003140.3(SRY):c.227G>T (p.Arg76Leu) SNV
Germline		 ChrY:2787377 Likely pathogenic 46,XY sex reversal 1 Criteria Provided
Single Submitter
 CA16609283 rs_1057519627

1 SubmittersRCV000445559
NM_032656.4(DHX37):c.1460G>A (p.Arg487His) SNV
Germline		 Chr12:124967167 Conflicting classifications of pathogenicity Abnormal brain morphology
Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
46,XY sex reversal 11		 Criteria Provided
Conflicting Classifications
 CA6872021 rs_779613772

3 SubmittersRCV000454335RCV003333070RCV003227484
NM_003140.3(SRY):c.331C>T (p.Gln111Ter) SNV
Germline		 ChrY:2787273 Pathogenic 46,XX sex reversal 1
46,XY sex reversal 1		 Criteria Provided
Single Submitter
 CA414941263 rs_1556370543

1 SubmittersRCV000502512
NM_003140.3(SRY):c.380A>G (p.Tyr127Cys) SNV
Germline		 ChrY:2787224 Pathogenic 46,XY sex reversal 1 Criteria Provided
Single Submitter
 CA414941142 rs_104894973

1 SubmittersRCV000541250
NM_003140.3(SRY):c.89G>T (p.Arg30Ile) SNV
Germline		 ChrY:2787515 Pathogenic 46,XY sex reversal 1 No Assertion Criteria Provided
 CA414941829 rs_1556370576

1 SubmittersRCV000581278
NM_003140.3(SRY):c.288C>G (p.Tyr96Ter) SNV
Germline		 ChrY:2787316 Pathogenic 46,XY sex reversal 1 Criteria Provided
Single Submitter
 CA414941370 rs_1556370548

1 SubmittersRCV000646759
NM_003140.3(SRY):c.263C>A (p.Ser88Ter) SNV
Germline		 ChrY:2787341 Pathogenic 46,XY sex reversal 1 Criteria Provided
Single Submitter
 CA414941425 rs_1556370558

1 SubmittersRCV000646760
NM_003140.3(SRY):c.169C>T (p.Gln57Ter) SNV
Germline		 ChrY:2787435 Pathogenic 46,XY sex reversal 1 Criteria Provided
Single Submitter
 rs_1603308308

1 SubmittersRCV000822498
NM_032656.4(DHX37):c.911C>T (p.Thr304Met) SNV
Germline		 Chr12:124975488 Pathogenic 46,XY sex reversal 11 No Assertion Criteria Provided
 rs_1954619788

1 SubmittersRCV001089509
NM_032656.4(DHX37):c.923G>A (p.Arg308Gln) SNV
Germline		 Chr12:124975476 Pathogenic 46,XY sex reversal 11
Condition: not provided
Arginase deficiency
DHX37-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1384892917

5 SubmittersRCV001089510RCV001840781RCV004526800RCV004579568
NM_032656.4(DHX37):c.2020C>T (p.Arg674Trp) SNV
Germline		 Chr12:124964419 Likely pathogenic 46,XY sex reversal 11
DHX37-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1954336272

3 SubmittersRCV001089511RCV003396737
NM_032656.4(DHX37):c.1784C>T (p.Ser595Phe) SNV
Germline		 Chr12:124964958 Pathogenic 46,XY sex reversal 11 No Assertion Criteria Provided
 rs_1954346640

1 SubmittersRCV001089512
NM_032656.4(DHX37):c.2021G>A (p.Arg674Gln) SNV
Germline		 Chr12:124964418 Pathogenic 46,XY sex reversal 11 No Assertion Criteria Provided
 rs_1954336215

1 SubmittersRCV001089513
NM_032656.4(DHX37):c.985G>A (p.Val329Ile) SNV
Germline		 Chr12:124972595 Conflicting classifications of pathogenicity Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
Condition: not provided
46,XY sex reversal 11		 Criteria Provided
Conflicting Classifications
 rs_112262509

4 SubmittersRCV001331507RCV002272450RCV003989681
NM_032656.4(DHX37):c.1877C>T (p.Ser626Leu) SNV
Germline		 Chr12:124964562 Likely pathogenic 46,XY sex reversal 11 Criteria Provided
Single Submitter
 rs_2135945152

1 SubmittersRCV001726690
NM_003140.3(SRY):c.212C>A (p.Ser71Tyr) SNV
Germline		 ChrY:2787392 Likely pathogenic 46,XY sex reversal 1 Criteria Provided
Single Submitter
 rs_2124486256

1 SubmittersRCV001964433
NM_003140.3(SRY):c.263C>G (p.Ser88Ter) SNV
Germline		 ChrY:2787341 Likely pathogenic 46,XY sex reversal 1 Criteria Provided
Single Submitter

1 SubmittersRCV003142381
NM_003140.3(SRY):c.145G>T (p.Gly49Ter) SNV
Germline		 ChrY:2787459 Pathogenic 46,XY sex reversal 1 Criteria Provided
Single Submitter

1 SubmittersRCV003622889