NR5A1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 153090	GRCh38/hg38 9q33.2-33.3(chr9:123095598-126693843)x1	ADGRD2, ARPC5L +172 more	Copy number loss	See cases	GPathogenic
Select item 701815	NM_004959.5(NR5A1):c.*1400T>C	NR5A1	Single nucleotide variant (3 prime UTR variant)	Oligosynaptic infertility +2 more	GBenign
Select item 538430	NC_000009.12:g.(?_124482420)_(124482928_?)del	NR5A1	Deletion	46,XY sex reversal 3 +2 more	GLikely pathogenic
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 2934814	NM_004959.5(NR5A1):c.1379A>C (p.Gln460Pro)	NR5A1 (Q460P)	Single nucleotide variant (missense variant)	Oligosynaptic infertility +2 more	GUncertain significance
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 1557269	NM_004959.5(NR5A1):c.1362A>G (p.Glu454=)	NR5A1	Single nucleotide variant (synonymous variant)	46,XY disorder of sex development +1 more	GLikely benign
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 3044557	NM_004959.5(NR5A1):c.1344C>T (p.Arg448=)	NR5A1	Single nucleotide variant (synonymous variant)	NR5A1-related disorder	GLikely benign
Select item 1306705	NM_004959.5(NR5A1):c.1314C>T (p.Tyr438=)	NR5A1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3349422	NM_004959.5(NR5A1):c.1310T>C (p.Leu437Pro)	NR5A1 (L437P)	Single nucleotide variant (missense variant)	NR5A1-related disorder	GUncertain significance
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 1393547	NM_004959.5(NR5A1):c.1308C>G (p.Tyr436Ter)	NR5A1 (Y436*)	Single nucleotide variant (nonsense)	46,XY disorder of sex development +1 more	GUncertain significance
Select item 846546	NM_004959.5(NR5A1):c.1307A>G (p.Tyr436Cys)	NR5A1 (Y436C)	Single nucleotide variant (missense variant)	Oligosynaptic infertility +1 more	GUncertain significance
Select item 3201975	NM_004959.5(NR5A1):c.1292T>C (p.Met431Thr)	NR5A1 (M431T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2932405	NM_004959.5(NR5A1):c.1285C>T (p.Leu429=)	NR5A1	Single nucleotide variant (synonymous variant)	Oligosynaptic infertility +1 more	GBenign
Select item 1338378	NM_004959.5(NR5A1):c.1282del (p.Ala428fs)	NR5A1 (A428fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2507834	NM_004959.5(NR5A1):c.1271T>C (p.Val424Ala)	NR5A1 (V424A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 598335	NM_004959.5(NR5A1):c.1266C>T (p.Cys422=)	NR5A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2546676	NM_004959.5(NR5A1):c.1233C>T (p.His411=)	NR5A1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 583141	NM_004959.5(NR5A1):c.1227C>G (p.Tyr409Ter)	NR5A1 (Y409*)	Single nucleotide variant (nonsense)	46,XY disorder of sex development +1 more	GLikely pathogenic
Select item 1202604	NM_004959.5(NR5A1):c.1223A>C (p.His408Pro)	NR5A1 (H408P)	Single nucleotide variant (missense variant)	Disorder of sexual differentiation	GPathogenic
Select item 2000749	NM_004959.5(NR5A1):c.1221C>A (p.Cys407Ter)	NR5A1 (C407*)	Single nucleotide variant (nonsense)	Oligosynaptic infertility +1 more	GPathogenic
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 817717	NM_004959.5(NR5A1):c.1172_1208dup (p.Asp403delinsGluArgArgSerGlyGluGlyGlnArgArgProAlaTer)	NR5A1	Duplication (nonsense)	not provided	GPathogenic
Select item 1721075	NM_004959.5(NR5A1):c.1205T>C (p.Leu402Pro)	NR5A1 (L402P)	Single nucleotide variant (missense variant)	46,XY disorder of sex development +1 more	GUncertain significance
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 3348690	NM_004959.5(NR5A1):c.1169del (p.Val390fs)	NR5A1 (V390fs)	Deletion (frameshift variant)	NR5A1-related disorder	GPathogenic
Select item 749770	NM_004959.5(NR5A1):c.1141T>C (p.Leu381=)	NR5A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2690957	NM_004959.5(NR5A1):c.1140T>C (p.Asp380=)	NR5A1	Single nucleotide variant (synonymous variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
Select item 1368125	NM_004959.5(NR5A1):c.1139-1G>T	NR5A1	Single nucleotide variant (splice acceptor variant)	Oligosynaptic infertility +1 more	GUncertain significance
Select item 2148119	NM_004959.5(NR5A1):c.1139-20C>T	NR5A1	Single nucleotide variant (intron variant)	46,XY disorder of sex development +1 more	GLikely benign
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 2087543	NM_004959.5(NR5A1):c.1065_1138+158del	NR5A1	Deletion (splice donor variant)	46,XY disorder of sex development +1 more	GPathogenic
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 941517	NM_004959.5(NR5A1):c.1138+5G>A	NR5A1	Single nucleotide variant (intron variant)	46,XY sex reversal 3 +2 more	GUncertain significance
Select item 796892	NM_004959.5(NR5A1):c.1128C>T (p.Leu376=)	NR5A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2092105	NM_004959.5(NR5A1):c.1106_1109del (p.Val369fs)	NR5A1 (V369fs)	Deletion (frameshift variant)	NR5A1-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 1948315	NM_004959.5(NR5A1):c.1099G>C (p.Glu367Gln)	NR5A1 (E367Q)	Single nucleotide variant (missense variant)	Oligosynaptic infertility +1 more	GUncertain significance
Select item 2159478	NM_004959.5(NR5A1):c.1093C>T (p.Arg365Trp)	NR5A1 (R365W)	Single nucleotide variant (missense variant)	Oligosynaptic infertility +1 more	GUncertain significance
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 424563	NM_004959.5(NR5A1):c.1063_1083dup (p.Val355_Leu361dup)	NR5A1	Duplication (inframe_insertion)	not provided	GLikely pathogenic
Select item 1244253	NM_004959.5(NR5A1):c.1079C>T (p.Ala360Val)	NR5A1 (A360V)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia +1 more	GConflicting classifications of pathogenicity
Select item 2302328	NM_004959.5(NR5A1):c.1075C>T (p.Leu359Phe)	NR5A1 (L359F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2553097	NM_004959.5(NR5A1):c.1071G>T (p.Gln357His)	NR5A1 (Q357H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 981141	NM_004959.5(NR5A1):c.1063G>A (p.Val355Met)	NR5A1 (V355M)	Single nucleotide variant (missense variant)	Male infertility +3 more	GConflicting classifications of pathogenicity
Select item 2635305	NM_004959.5(NR5A1):c.1061T>A (p.Leu354Gln)	NR5A1 (L354Q)	Single nucleotide variant (missense variant)	NR5A1-related disorder	GUncertain significance
Select item 981142	NM_004959.5(NR5A1):c.1052C>T (p.Ala351Val)	NR5A1 (A351V)	Single nucleotide variant (missense variant)	Non-obstructive azoospermia +1 more	GPathogenic/Likely pathogenic
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 1555817	NM_004959.5(NR5A1):c.996G>A (p.Glu332=)	NR5A1	Single nucleotide variant (synonymous variant)	46,XY disorder of sex development +1 more	GLikely benign
Select item 1691445	NM_004959.5(NR5A1):c.991-1G>C	NR5A1	Single nucleotide variant (splice acceptor variant)	46,XY partial gonadal dysgenesis	GPathogenic
Select item 2075561	NM_004959.5(NR5A1):c.991-17G>A	NR5A1	Single nucleotide variant (intron variant)	Oligosynaptic infertility +1 more	GLikely benign
Select item 2950344	NM_004959.5(NR5A1):c.991-18C>T	NR5A1	Single nucleotide variant (intron variant)	Oligosynaptic infertility +1 more	GBenign
Select item 2947882	NM_004959.5(NR5A1):c.991-18C>A	NR5A1	Single nucleotide variant (intron variant)	Oligosynaptic infertility +1 more	GPathogenic
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 666298	NM_004959.5(NR5A1):c.990G>A (p.Glu330=)	NR5A1	Single nucleotide variant (synonymous variant)	46,XY sex reversal 3 +1 more	GLikely pathogenic
Select item 1454827	NM_004959.5(NR5A1):c.984del (p.Gln329fs)	NR5A1 (Q329fs)	Deletion (frameshift variant)	Oligosynaptic infertility +1 more	GPathogenic
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 958009	NM_004959.5(NR5A1):c.982G>A (p.Gly328Arg)	NR5A1 (G328R)	Single nucleotide variant (missense variant)	Oligosynaptic infertility +1 more	GLikely pathogenic
Select item 2634759	NM_004959.5(NR5A1):c.981C>A (p.Thr327=)	NR5A1	Single nucleotide variant (synonymous variant)	NR5A1-related disorder +2 more	GConflicting classifications of pathogenicity
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 1338234	NM_004959.5(NR5A1):c.958G>T (p.Glu320Ter)	NR5A1 (E320*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 754384	NM_004959.5(NR5A1):c.942G>A (p.Gln314=)	NR5A1	Single nucleotide variant (synonymous variant)	46,XY disorder of sex development +1 more	GBenign
Select item 641462	NM_004959.5(NR5A1):c.942G>C (p.Gln314His)	NR5A1 (Q314H)	Single nucleotide variant (missense variant)	Oligosynaptic infertility +1 more	GUncertain significance
Select item 2633654	NM_004959.5(NR5A1):c.940C>T (p.Gln314Ter)	NR5A1 (Q314*)	Single nucleotide variant (nonsense)	NR5A1-related disorder	GLikely pathogenic
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 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 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 2156565	NM_004959.5(NR5A1):c.924C>T (p.Phe308=)	NR5A1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1700702	NM_004959.5(NR5A1):c.910G>A (p.Glu304Lys)	NR5A1 (E304K)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1256024	NM_004959.5(NR5A1):c.909C>A (p.Ser303Arg)	NR5A1 (S303R)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 3061777	NM_004959.5(NR5A1):c.908G>A (p.Ser303Asn)	NR5A1 (S303N)	Single nucleotide variant (missense variant)	Male infertility	GLikely pathogenic

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