ClinVar for Gene (Select 2516) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236659	NM_004959.5(NR5A1):c.571C>T (p.Arg191Cys)	NR5A1 (R191C)	Single nucleotide variant (missense variant)	46,XY sex reversal 3	GUncertain significance
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 3201979	NM_004959.5(NR5A1):c.717G>C (p.Gln239His)	NR5A1 (Q239H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201978	NM_004959.5(NR5A1):c.488A>T (p.Asp163Val)	NR5A1 (D163V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201977	NM_004959.5(NR5A1):c.452G>T (p.Gly151Val)	NR5A1 (G151V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3201976	NM_004959.5(NR5A1):c.415G>A (p.Val139Met)	NR5A1 (V139M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 3063098	GRCh37/hg19 9q33.2-33.3(chr9:122755951-127551056)x1	ADGRD2, C5 +50 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 3061777	NM_004959.5(NR5A1):c.908G>A (p.Ser303Asn)	NR5A1 (S303N)	Single nucleotide variant (missense variant)	Male infertility	GLikely pathogenic
Select item 3061776	NM_004959.5(NR5A1):c.808G>A (p.Asp270Asn)	NR5A1 (D270N)	Single nucleotide variant (missense variant)	Male infertility	GLikely pathogenic
Select item 3057790	NM_004959.5(NR5A1):c.630G>T (p.Pro210=)	NR5A1	Single nucleotide variant (synonymous variant)	NR5A1-related disorder	GLikely benign
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 3026191	NM_004959.5(NR5A1):c.130A>G (p.Asn44Asp)	NR5A1 (N44D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2953258	NM_004959.5(NR5A1):c.523G>A (p.Gly175Ser)	NR5A1 (G175S)	Single nucleotide variant (missense variant)	Oligosynaptic infertility +1 more	GUncertain significance
Select item 2950460	NM_004959.5(NR5A1):c.241G>A (p.Glu81Lys)	NR5A1 (E81K)	Single nucleotide variant (missense variant)	Oligosynaptic infertility +1 more	GUncertain significance
Select item 2950344	NM_004959.5(NR5A1):c.991-18C>T	NR5A1	Single nucleotide variant (intron variant)	Oligosynaptic infertility +1 more	GBenign
Select item 2949072	NM_004959.5(NR5A1):c.870+1G>A	NR5A1	Single nucleotide variant (splice donor variant)	46,XY disorder of sex development +1 more	GLikely pathogenic
Select item 2947882	NM_004959.5(NR5A1):c.991-18C>A	NR5A1	Single nucleotide variant (intron variant)	46,XY disorder of sex development +1 more	GPathogenic
Select item 2946265	NM_004959.5(NR5A1):c.776C>T (p.Pro259Leu)	NR5A1 (P259L)	Single nucleotide variant (missense variant)	46,XY disorder of sex development +1 more	GUncertain significance
Select item 2945315	NM_004959.5(NR5A1):c.630G>A (p.Pro210=)	NR5A1	Single nucleotide variant (synonymous variant)	46,XY disorder of sex development +1 more	GLikely benign
Select item 2944523	NM_004959.5(NR5A1):c.245-2A>G	NR5A1	Single nucleotide variant (splice acceptor variant)	46,XY disorder of sex development +1 more	GPathogenic
Select item 2941241	NM_004959.5(NR5A1):c.236G>C (p.Arg79Pro)	NR5A1 (R79P)	Single nucleotide variant (missense variant)	46,XY disorder of sex development +1 more	GPathogenic
Select item 2938097	NM_004959.5(NR5A1):c.64G>A (p.Gly22Ser)	NR5A1 (G22S)	Single nucleotide variant (missense variant)	46,XY disorder of sex development +1 more	GUncertain significance
Select item 2934814	NM_004959.5(NR5A1):c.1379A>C (p.Gln460Pro)	NR5A1 (Q460P)	Single nucleotide variant (missense variant)	Male infertility +2 more	GUncertain significance
Select item 2933342	NM_004959.5(NR5A1):c.244G>T (p.Ala82Ser)	NR5A1 (A82S)	Single nucleotide variant (missense variant)	46,XY disorder of sex development +1 more	GLikely pathogenic
Select item 2932405	NM_004959.5(NR5A1):c.1285C>T (p.Leu429=)	NR5A1	Single nucleotide variant (synonymous variant)	46,XY disorder of sex development +1 more	GBenign
Select item 2930920	NM_004959.5(NR5A1):c.871-17G>A	NR5A1	Single nucleotide variant (intron variant)	46,XY disorder of sex development +1 more	GLikely benign
Select item 2927213	NM_004959.5(NR5A1):c.437_438delinsCA (p.Gly146Ala)	NR5A1 (G146A)	Indel (missense variant)	Oligosynaptic infertility +1 more	GLikely benign
Select item 2924972	NM_004959.5(NR5A1):c.780G>A (p.Ala260=)	NR5A1	Single nucleotide variant (synonymous variant)	46,XY disorder of sex development +1 more	GLikely benign
Select item 2924969	NM_004959.5(NR5A1):c.598C>A (p.Pro200Thr)	NR5A1 (P200T)	Single nucleotide variant (missense variant)	46,XY disorder of sex development +1 more	GUncertain significance
Select item 2921914	NM_004959.5(NR5A1):c.601del (p.Tyr201fs)	NR5A1 (Y201fs)	Deletion (frameshift variant)	46,XY disorder of sex development +1 more	GPathogenic
Select item 2921839	NM_004959.5(NR5A1):c.727C>T (p.Arg243Cys)	NR5A1 (R243C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2690962	NM_004959.5(NR5A1):c.31G>A (p.Glu11Lys)	NR5A1 (E11K)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 2690961	NM_004959.5(NR5A1):c.22G>C (p.Asp8His)	NR5A1 (D8H)	Single nucleotide variant (missense variant)	See cases	GLikely pathogenic
Select item 2690960	NM_004959.5(NR5A1):c.593C>T (p.Pro198Leu)	NR5A1 (P198L)	Single nucleotide variant (missense variant)	46,XY disorder of sex development +2 more	GConflicting classifications of pathogenicity
Select item 2690959	NM_004959.5(NR5A1):c.462del (p.Gly155fs)	NR5A1 (G155fs)	Deletion (frameshift variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation	GLikely pathogenic
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 2662845	NM_004959.5(NR5A1):c.880C>G (p.Gln294Glu)	NR5A1 (Q294E)	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 2659494	NM_004959.5(NR5A1):c.876C>T (p.Ala292=)	NR5A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636138	NM_004959.5(NR5A1):c.86C>G (p.Thr29Arg)	NR5A1 (T29R)	Single nucleotide variant (missense variant)	NR5A1-related disorder	GPathogenic
Select item 2635943	NM_004959.5(NR5A1):c.769G>A (p.Asp257Asn)	NR5A1 (D257N)	Single nucleotide variant (missense variant)	NR5A1-related disorder	GUncertain significance
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 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 2633654	NM_004959.5(NR5A1):c.940C>T (p.Gln314Ter)	NR5A1 (Q314*)	Single nucleotide variant (nonsense)	NR5A1-related disorder	GLikely pathogenic
Select item 2633499	NM_004959.5(NR5A1):c.907A>C (p.Ser303Arg)	NR5A1 (S303R)	Single nucleotide variant (missense variant)	NR5A1-related disorder	GUncertain significance
Select item 2630854	NM_004959.5(NR5A1):c.245-39_252del	NR5A1	Deletion (splice acceptor variant)	NR5A1-related disorder	GLikely pathogenic
Select item 2629953	NM_004959.5(NR5A1):c.871-1G>C	NR5A1	Single nucleotide variant (splice acceptor variant)	NR5A1-related disorder	GPathogenic
Select item 2627778	NM_004959.5(NR5A1):c.352T>A (p.Phe118Ile)	NR5A1 (F118I)	Single nucleotide variant (missense variant)	Spermatogenic failure 8	GUncertain significance
Select item 2609497	NM_004959.5(NR5A1):c.263T>C (p.Met88Thr)	NR5A1 (M88T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2571774	NM_004959.5(NR5A1):c.-6G>A	NR5A1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
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 2550198	NM_004959.5(NR5A1):c.343G>A (p.Ala115Thr)	NR5A1 (A115T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2518088	NM_004959.5(NR5A1):c.404C>T (p.Ala135Val)	NR5A1 (A135V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 2501554	NM_004959.5(NR5A1):c.848G>A (p.Cys283Tyr)	NR5A1 (C283Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 2499104	NM_004959.5(NR5A1):c.705G>A (p.Pro235=)	NR5A1	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 2443198	NM_004959.5(NR5A1):c.614dup (p.Gln206fs)	NR5A1 (Q206fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2340026	NM_004959.5(NR5A1):c.26T>A (p.Leu9Gln)	NR5A1 (L9Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335899	NM_004959.5(NR5A1):c.820A>G (p.Ile274Val)	NR5A1 (I274V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2238707	NM_004959.5(NR5A1):c.434A>C (p.His145Pro)	NR5A1 (H145P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2185511	NM_004959.5(NR5A1):c.754A>G (p.Thr252Ala)	NR5A1 (T252A)	Single nucleotide variant (missense variant)	46,XY disorder of sex development +1 more	GUncertain significance
Select item 2159478	NM_004959.5(NR5A1):c.1093C>T (p.Arg365Trp)	NR5A1 (R365W)	Single nucleotide variant (missense variant)	46,XY disorder of sex development +1 more	GUncertain significance
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 2148119	NM_004959.5(NR5A1):c.1139-20C>T	NR5A1	Single nucleotide variant (intron variant)	Oligosynaptic infertility +1 more	GLikely benign
Select item 2136807	NM_004959.5(NR5A1):c.205C>G (p.Arg69Gly)	NR5A1 (R69G)	Single nucleotide variant (missense variant)	Oligosynaptic infertility +1 more	GUncertain significance
Select item 2136805	NM_004959.5(NR5A1):c.800G>A (p.Arg267Lys)	NR5A1 (R267K)	Single nucleotide variant (missense variant)	Oligosynaptic infertility +1 more	GUncertain significance
Select item 2118974	NM_004959.5(NR5A1):c.871-4_871-1del	NR5A1	Deletion (splice acceptor variant)	Oligosynaptic infertility +1 more	GLikely pathogenic
Select item 2103610	NM_004959.5(NR5A1):c.269G>C (p.Gly90Ala)	NR5A1 (G90A)	Single nucleotide variant (missense variant)	46,XY disorder of sex development +1 more	GUncertain significance
Select item 2098559	NM_004959.5(NR5A1):c.244G>A (p.Ala82Thr)	NR5A1 (A82T)	Single nucleotide variant (missense variant)	Oligosynaptic infertility +1 more	GUncertain significance
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 2087543	NM_004959.5(NR5A1):c.1065_1138+158del	NR5A1	Deletion (splice donor variant)	Oligosynaptic infertility +1 more	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 2049643	NM_004959.5(NR5A1):c.33G>A (p.Glu11=)	NR5A1	Single nucleotide variant (synonymous variant)	Oligosynaptic infertility +1 more	GBenign
Select item 2019693	NM_004959.5(NR5A1):c.591C>G (p.Tyr197Ter)	NR5A1 (Y197*)	Single nucleotide variant (nonsense)	Oligosynaptic infertility +1 more	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 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 1808695	GRCh37/hg19 9q33.2-33.3(chr9:124018736-129995568)x1	ADGRD2, ANGPTL2 +59 more	Copy number loss	not provided	GPathogenic
Select item 1805655	NM_004959.5(NR5A1):c.164del (p.Cys55fs)	NR5A1 (C55fs)	Deletion (frameshift variant)	46,XY sex reversal 3	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 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	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 1700702	NM_004959.5(NR5A1):c.910G>A (p.Glu304Lys)	NR5A1 (E304K)	Single nucleotide variant (missense variant)	Hypospadias	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 1691445	NM_004959.5(NR5A1):c.991-1G>C	NR5A1	Single nucleotide variant (splice acceptor variant)	46,XY partial gonadal dysgenesis	GPathogenic
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

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