"GeneDx"[submitter] AND "NR5A1"[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1263592	NM_004959.5(NR5A1):c.*173del	NR5A1	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 701816	NM_004959.5(NR5A1):c.*82C>T	NR5A1	Single nucleotide variant (3 prime UTR variant)	46,XY disorder of sex development +2 more	GBenign
Select item 429838	NM_004959.5(NR5A1):c.1379A>G (p.Gln460Arg)	NR5A1 (Q460R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 702077	NM_004959.5(NR5A1):c.1353G>A (p.Leu451=)	NR5A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1306705	NM_004959.5(NR5A1):c.1314C>T (p.Tyr438=)	NR5A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 817717	NM_004959.5(NR5A1):c.1172_1208dup (p.Asp403delinsGluArgArgSerGlyGluGlyGlnArgArgProAlaTer)	NR5A1	Duplication (nonsense)	not provided	GPathogenic
Select item 382485	NM_004959.5(NR5A1):c.1197C>T (p.Ala399=)	NR5A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1310450	NM_004959.5(NR5A1):c.1184A>G (p.Glu395Gly)	NR5A1 (E395G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 373589	NM_004959.5(NR5A1):c.1180C>G (p.Gln394Glu)	NR5A1 (Q394E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1274234	NM_004959.5(NR5A1):c.1139-112T>C	NR5A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178855	NM_004959.5(NR5A1):c.1139-128G>A	NR5A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180331	NM_004959.5(NR5A1):c.1139-161C>T	NR5A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292734	NM_004959.5(NR5A1):c.1139-245T>C	NR5A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289700	NM_004959.5(NR5A1):c.1139-274G>C	NR5A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272592	NM_004959.5(NR5A1):c.1138+44C>G	NR5A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269895	NM_004959.5(NR5A1):c.1138+41A>G	NR5A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2499713	NM_004959.5(NR5A1):c.1112T>G (p.Leu371Arg)	NR5A1 (L371R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 424563	NM_004959.5(NR5A1):c.1063_1083dup (p.Val355_Leu361dup)	NR5A1	Duplication (inframe_insertion)	not provided	GLikely pathogenic
Select item 1216463	NM_004959.5(NR5A1):c.991-49C>T	NR5A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178131	NM_004959.5(NR5A1):c.991-161T>C	NR5A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201571	NM_004959.5(NR5A1):c.991-164T>C	NR5A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207745	NM_004959.5(NR5A1):c.990+280T>C	NR5A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3343862	NM_004959.5(NR5A1):c.974T>C (p.Leu325Pro)	NR5A1 (L325P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3365862	NM_004959.5(NR5A1):c.952G>A (p.Gly318Ser)	NR5A1 (G318S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1191819	NM_004959.5(NR5A1):c.951C>T (p.His317=)	NR5A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 449434	NM_004959.5(NR5A1):c.938G>A (p.Arg313His)	NR5A1 (R313H)	Single nucleotide variant (missense variant)	46,XY disorder of sex development +2 more	GPathogenic/Likely pathogenic
Select item 372437	NM_004959.5(NR5A1):c.937C>T (p.Arg313Cys)	NR5A1 (R313C)	Single nucleotide variant (missense variant)	46,XY disorder of sex development +3 more	GPathogenic/Likely pathogenic
Select item 2662845	NM_004959.5(NR5A1):c.880C>G (p.Gln294Glu)	NR5A1 (Q294E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2629953	NM_004959.5(NR5A1):c.871-1G>C	NR5A1	Single nucleotide variant (splice acceptor variant)	NR5A1-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 1174754	NM_004959.5(NR5A1):c.871-20C>T	NR5A1	Single nucleotide variant (intron variant)	Oligosynaptic infertility +2 more	GBenign
Select item 1212503	NM_004959.5(NR5A1):c.871-98T>C	NR5A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213399	NM_004959.5(NR5A1):c.871-186T>C	NR5A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2501554	NM_004959.5(NR5A1):c.848G>A (p.Cys283Tyr)	NR5A1 (C283Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 420085	NM_004959.5(NR5A1):c.835T>A (p.Trp279Arg)	NR5A1 (W279R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1212154	NM_004959.5(NR5A1):c.737G>A (p.Gly246Asp)	NR5A1 (G246D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303098	NM_004959.5(NR5A1):c.704C>T (p.Pro235Leu)	NR5A1 (P235L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 704615	NM_004959.5(NR5A1):c.633C>T (p.Tyr211=)	NR5A1	Single nucleotide variant (synonymous variant)	46,XY disorder of sex development +2 more	GBenign/Likely benign
Select item 506302	NM_004959.5(NR5A1):c.594G>A (p.Pro198=)	NR5A1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 2690960	NM_004959.5(NR5A1):c.593C>T (p.Pro198Leu)	NR5A1 (P198L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1309557	NM_004959.5(NR5A1):c.521C>T (p.Pro174Leu)	NR5A1 (P174L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 138537	NM_004959.5(NR5A1):c.516C>T (p.Ala172=)	NR5A1	Single nucleotide variant (synonymous variant)	46,XY disorder of sex development +3 more	GBenign
Select item 259591	NM_004959.5(NR5A1):c.437G>C (p.Gly146Ala)	NR5A1 (G146A)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 817998	NM_004959.5(NR5A1):c.398del (p.Pro133fs)	NR5A1 (P133fs)	Deletion (frameshift variant)	Oligosynaptic infertility +2 more	GPathogenic
Select item 242720	NM_004959.5(NR5A1):c.386C>T (p.Pro129Leu)	NR5A1 (P129L)	Single nucleotide variant (missense variant)	Oligosynaptic infertility +2 more	GLikely benign
Select item 259590	NM_004959.5(NR5A1):c.375G>A (p.Pro125=)	NR5A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 242792	NM_004959.5(NR5A1):c.368G>C (p.Gly123Ala)	NR5A1 (G123A)	Single nucleotide variant (missense variant)	Oligosynaptic infertility +4 more	GConflicting classifications of pathogenicity
Select item 265792	NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp)	NR5A1 (R92W)	Single nucleotide variant (missense variant)	46,XY disorder of sex development +4 more	GConflicting classifications of pathogenicity
Select item 1256011	NM_004959.5(NR5A1):c.250C>T (p.Arg84Cys)	NR5A1 (R84C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1293302	NM_004959.5(NR5A1):c.245-90C>T	NR5A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181023	NM_004959.5(NR5A1):c.245-238G>A	NR5A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192141	NM_004959.5(NR5A1):c.245-311dup	NR5A1	Duplication (intron variant)	not provided	GLikely benign
Select item 1196837	NM_004959.5(NR5A1):c.245-319C>T	NR5A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226991	NM_004959.5(NR5A1):c.244+72G>T	NR5A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207104	NM_004959.5(NR5A1):c.244+45G>T	NR5A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 512969	NM_004959.5(NR5A1):c.225G>C (p.Thr75=)	NR5A1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 385314	NM_004959.5(NR5A1):c.225G>A (p.Thr75=)	NR5A1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1302227	NM_004959.5(NR5A1):c.205C>T (p.Arg69Cys)	NR5A1 (R69C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313613	NM_004959.5(NR5A1):c.197C>T (p.Pro66Leu)	NR5A1 (P66L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662394	NM_004959.5(NR5A1):c.185G>A (p.Arg62His)	NR5A1 (R62H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1053554	NM_004959.5(NR5A1):c.162C>A (p.Ser54Arg)	NR5A1 (S54R)	Single nucleotide variant (missense variant)	Oligosynaptic infertility +2 more	GUncertain significance
Select item 2571774	NM_004959.5(NR5A1):c.-6G>A	NR5A1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1205324	NM_004959.5(NR5A1):c.-15-81G>A	LOC108491836, NR5A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226260	NM_004959.5(NR5A1):c.-15-88G>T	LOC108491836, NR5A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 64