ClinVar for MedGen (Select 483746) - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235911	NM_004959.5(NR5A1):c.841C>T (p.Arg281Cys)	NR5A1 (R281C)	Single nucleotide variant (missense variant)	46,XY sex reversal 3	GPathogenic
Select item 2572556	NM_004959.5(NR5A1):c.15C>A (p.Tyr5Ter)	NR5A1 (Y5*)	Single nucleotide variant (nonsense)	46,XY sex reversal 3	GLikely pathogenic
Select item 2507402	NM_004959.5(NR5A1):c.61T>G (p.Ser21Ala)	NR5A1 (S21A)	Single nucleotide variant (missense variant)	46,XY sex reversal 3	GLikely pathogenic
Select item 2092105	NM_004959.5(NR5A1):c.1106_1109del (p.Val369fs)	NR5A1 (V369fs)	Deletion (frameshift variant)	46,XY disorder of sex development +3 more	GPathogenic/Likely pathogenic
Select item 1805655	NM_004959.5(NR5A1):c.164del (p.Cys55fs)	NR5A1 (C55fs)	Deletion (frameshift variant)	46,XY sex reversal 3	GPathogenic
Select item 1710229	NM_004959.5(NR5A1):c.616C>A (p.Gln206Lys)	NR5A1 (Q206K)	Single nucleotide variant (missense variant)	46,XY sex reversal 3	GUncertain significance
Select item 1705428	NM_004959.5(NR5A1):c.164G>A (p.Cys55Tyr)	NR5A1 (C55Y)	Single nucleotide variant (missense variant)	46,XY sex reversal 3	GUncertain significance
Select item 1699288	NM_004959.5(NR5A1):c.983G>T (p.Gly328Val)	NR5A1 (G328V)	Single nucleotide variant (missense variant)	46,XY sex reversal 3	GPathogenic
Select item 1699162	NM_004959.5(NR5A1):c.1073T>C (p.Leu358Pro)	NR5A1 (L358P)	Single nucleotide variant (missense variant)	46,XY sex reversal 3	GLikely pathogenic
Select item 1698917	NM_004959.5(NR5A1):c.1090G>T (p.Asp364Tyr)	NR5A1 (D364Y)	Single nucleotide variant (missense variant)	46,XY sex reversal 3	GLikely pathogenic
Select item 1691292	NM_004959.5(NR5A1):c.44T>C (p.Val15Ala)	NR5A1 (V15A)	Single nucleotide variant (missense variant)	46,XY sex reversal 3	GLikely pathogenic
Select item 1687572	NM_004959.5(NR5A1):c.259C>T (p.Arg87Cys)	NR5A1 (R87C)	Single nucleotide variant (missense variant)	Oligosynaptic infertility +2 more	GPathogenic
Select item 1687563	NM_004959.5(NR5A1):c.721C>T (p.Arg241Trp)	NR5A1 (R241W)	Single nucleotide variant (missense variant)	Oligosynaptic infertility +2 more	GUncertain significance
Select item 1687524	NM_004959.5(NR5A1):c.11C>A (p.Ser4Ter)	NR5A1 (S4*)	Single nucleotide variant (nonsense)	46,XY sex reversal 3	GPathogenic
Select item 1687301	NM_004959.5(NR5A1):c.89G>A (p.Cys30Tyr)	NR5A1 (C30Y)	Single nucleotide variant (missense variant)	46,XY sex reversal 3	GUncertain significance
Select item 1687253	NM_004959.5(NR5A1):c.284T>C (p.Phe95Ser)	NR5A1 (F95S)	Single nucleotide variant (missense variant)	46,XY sex reversal 3	GUncertain significance
Select item 1342834	NM_004959.5(NR5A1):c.1048C>T (p.Arg350Trp)	NR5A1 (R350W)	Single nucleotide variant (missense variant)	46,XY sex reversal 3	GPathogenic
Select item 1341695	NM_004959.5(NR5A1):c.97T>C (p.Cys33Arg)	NR5A1 (C33R)	Single nucleotide variant (missense variant)	46,XY sex reversal 3	GLikely pathogenic
Select item 1341694	NM_004959.5(NR5A1):c.19G>T (p.Glu7Ter)	NR5A1 (E7*)	Single nucleotide variant (nonsense)	46,XY sex reversal 3	GPathogenic
Select item 1338783	NM_004959.5(NR5A1):c.140A>G (p.Tyr47Cys)	NR5A1 (Y47C)	Single nucleotide variant (missense variant)	46,XY sex reversal 3	GLikely pathogenic
Select item 1256011	NM_004959.5(NR5A1):c.250C>T (p.Arg84Cys)	NR5A1 (R84C)	Single nucleotide variant (missense variant)	46,XY sex reversal 3	GLikely pathogenic
Select item 1244229	NM_004959.5(NR5A1):c.712G>A (p.Asp238Asn)	NR5A1 (D238N)	Single nucleotide variant (missense variant)	46,XY sex reversal 3 +6 more	GConflicting classifications of pathogenicity
Select item 941517	NM_004959.5(NR5A1):c.1138+5G>A	NR5A1	Single nucleotide variant (intron variant)	46,XY disorder of sex development +2 more	GUncertain significance
Select item 833100	NC_000009.12:g.(?_124481358)_(124505411_?)del	NR5A1	Deletion	Oligosynaptic infertility +1 more	GPathogenic
Select item 805894	NM_012082.4(ZFPM2):c.1818_1820del (p.Leu607del)	ZFPM2-AS1, ZFPM2 (L475del +2 more)	Deletion (inframe_deletion)	46,XY sex reversal 9	GUncertain significance
Select item 805893	NM_012082.4(ZFPM2):c.1770G>C (p.Lys590Asn)	ZFPM2, ZFPM2-AS1 (K458N +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 3	GBenign
Select item 805892	NM_012082.4(ZFPM2):c.1003C>G (p.Leu335Val)	ZFPM2, ZFPM2-AS1 (L203V +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9	GBenign
Select item 805891	NM_012082.4(ZFPM2):c.1255G>A (p.Glu419Lys)	ZFPM2, ZFPM2-AS1 (E287K +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 3	GBenign
Select item 805890	NM_012082.4(ZFPM2):c.1612G>A (p.Val538Ile)	ZFPM2, ZFPM2-AS1 (V406I +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9 +1 more	GLikely benign
Select item 805889	NM_001308093.3(GATA4):c.687G>C (p.Trp229Cys)	GATA4 (W228C +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 3	GPathogenic
Select item 800770	NM_004959.5(NR5A1):c.455_536del (p.Leu152fs)	NR5A1 (L152fs)	Deletion (frameshift variant)	46,XY sex reversal 3	GLikely pathogenic
Select item 666298	NM_004959.5(NR5A1):c.990G>A (p.Glu330=)	NR5A1	Single nucleotide variant (synonymous variant)	Non-obstructive azoospermia +1 more	GLikely pathogenic
Select item 641278	NM_004959.5(NR5A1):c.251G>A (p.Arg84His)	NR5A1 (R84H)	Single nucleotide variant (missense variant)	NR5A1-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 538430	NC_000009.12:g.(?_124482420)_(124482928_?)del	NR5A1	Deletion	Oligosynaptic infertility +2 more	GLikely pathogenic
Select item 471062	NM_004959.5(NR5A1):c.236_238del (p.Arg79del)	NR5A1 (R79del)	Deletion (inframe_deletion)	46,XY sex reversal 3 +1 more	GUncertain significance
Select item 436032	NM_004959.5(NR5A1):c.34_38delinsGACCTGGACCTGT (p.Leu12fs)	NR5A1 (L12fs)	Indel (frameshift variant)	46,XY sex reversal 3	GPathogenic
Select item 436030	NM_004959.5(NR5A1):c.938G>T (p.Arg313Leu)	NR5A1 (R313L)	Single nucleotide variant (missense variant)	46,XY sex reversal 3	GLikely pathogenic
Select item 412737	NM_001308093.3(GATA4):c.1183C>A (p.Pro395Thr)	GATA4 (P394T +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 372437	NM_004959.5(NR5A1):c.937C>T (p.Arg313Cys)	NR5A1 (R313C)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 265792	NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp)	NR5A1 (R92W)	Single nucleotide variant (missense variant)	Oligosynaptic infertility +4 more	GConflicting classifications of pathogenicity
Select item 260179	NM_012082.4(ZFPM2):c.629G>C (p.Ser210Thr)	ZFPM2, ZFPM2-AS1 (S210T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 240844	NM_012082.4(ZFPM2):c.292G>A (p.Asp98Asn)	ZFPM2 (D98N +1 more)	Single nucleotide variant (missense variant +1 more)	ZFPM2-related condition +2 more	GBenign/Likely benign
Select item 216976	NM_004959.5(NR5A1):c.1210T>G (p.Tyr404Asp)	NR5A1 (Y404D)	Single nucleotide variant (missense variant)	46,XY sex reversal 3	GPathogenic
Select item 216975	NM_004959.5(NR5A1):c.151G>T (p.Glu51Ter)	NR5A1 (E51*)	Single nucleotide variant (nonsense)	46,XY sex reversal 3	GPathogenic
Select item 39518	NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile)	ZFPM2, ZFPM2-AS1 (M544I +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 30103	NM_001308093.3(GATA4):c.1223C>A (p.Pro408Gln)	GATA4 (P407Q +3 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 30100	NM_001308093.3(GATA4):c.1040C>T (p.Ala347Val)	GATA4 (A346V +3 more)	Single nucleotide variant (missense variant)	Atrioventricular septal defect 4 +4 more	GLikely benign
Select item 12807	NM_004959.5(NR5A1):c.390del (p.Pro131fs)	NR5A1 (P131fs)	Deletion (frameshift variant)	46,XY sex reversal 3 +1 more	GPathogenic
Select item 12806	NM_004959.5(NR5A1):c.3G>A (p.Met1Ile)	NR5A1 (M1I)	Single nucleotide variant (missense variant +1 more)	46,XY sex reversal 3 +1 more	GPathogenic
Select item 12805	NM_004959.5(NR5A1):c.877G>A (p.Asp293Asn)	NR5A1 (D293N)	Single nucleotide variant (missense variant)	46,XY sex reversal 3 +1 more	GPathogenic
Select item 12804	NM_004959.5(NR5A1):c.666del (p.Asn222fs)	NR5A1 (N222fs)	Deletion (frameshift variant)	46,XY sex reversal 3 +1 more	GPathogenic
Select item 12803	NM_004959.5(NR5A1):c.1310T>A (p.Leu437Gln)	NR5A1 (L437Q)	Single nucleotide variant (missense variant)	46,XY sex reversal 3	GPathogenic
Select item 12802	NM_004959.5(NR5A1):c.271G>A (p.Gly91Ser)	NR5A1 (G91S)	Single nucleotide variant (missense variant)	46,XY sex reversal 3	GPathogenic
Select item 12801	NM_004959.5(NR5A1):c.234G>A (p.Met78Ile)	NR5A1 (M78I)	Single nucleotide variant (missense variant)	46,XY sex reversal 3	GPathogenic
Select item 12800	NM_004959.5(NR5A1):c.43G>A (p.Val15Met)	NR5A1 (V15M)	Single nucleotide variant (missense variant)	46,XY sex reversal 3	GPathogenic
Select item 12799	NM_004959.5(NR5A1):c.18del (p.Asp6fs)	NR5A1 (D6fs)	Deletion (frameshift variant)	46,XY sex reversal 3	GPathogenic
Select item 12798	NM_004959.5(NR5A1):c.48C>A (p.Cys16Ter)	NR5A1 (C16*)	Single nucleotide variant (nonsense)	46,XY sex reversal 3	GPathogenic
Select item 12797	NM_004959.5(NR5A1):c.1058_1065del (p.Glu353fs)	NR5A1 (E353fs)	Deletion (frameshift variant)	46,XY sex reversal 3	GPathogenic
Select item 12796	NM_004959.5(NR5A1):c.275G>A (p.Arg92Gln)	NR5A1 (R92Q)	Single nucleotide variant (missense variant)	46,XY sex reversal 3 +2 more	GPathogenic
Select item 12794	NM_004959.5(NR5A1):c.104_105delinsAA (p.Gly35Glu)	NR5A1 (G35E)	Indel (missense variant)	46,XY sex reversal 3	GPathogenic
Select item 6130	NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu)	ZFPM2, ZFPM2-AS1 (M703L +2 more)	Single nucleotide variant (missense variant)	46,XY sex reversal 9 +2 more	GBenign/Likely benign
Select item 6128	NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly)	ZFPM2 (E30G)	Single nucleotide variant (5 prime UTR variant +2 more)	46,XY sex reversal 9 +3 more	GBenign/Likely benign

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Links from MedGen

Items: 62