Total 43 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
Condition: not provided
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

4 SubmittersRCV000454335RCV004719818RCV003333070RCV003227484
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
DHX37-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1384892917

5 SubmittersRCV001089510RCV001840781RCV004579568
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 Likely pathogenic 46,XY sex reversal 11
Condition: not provided		 Criteria Provided
Single Submitter
 rs_1954336215

2 SubmittersRCV001089513RCV004720759
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

5 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
NM_032656.4(DHX37):c.1000C>T (p.Arg334Trp) SNV
Germline		 Chr12:124972580 Conflicting classifications of pathogenicity 46,XY sex reversal 11 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004787184