ClinVar for Gene (Select 367) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362262	NM_000044.6(AR):c.2612C>G (p.Ala871Gly)	AR (A339G +1 more)	Single nucleotide variant (missense variant)	Partial androgen insensitivity syndrome	GPathogenic
Select item 3356339	NM_000044.6(AR):c.1370GCG[23] (p.Gly473_Glu474insGlyGlyGlyGlyGlyGly)	AR	Microsatellite (inframe_insertion +1 more)	AR-related disorder	GUncertain significance
Select item 3355844	NM_000044.6(AR):c.171GCA[44] (p.Gln80_Glu81insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)	AR, LOC109504725	Microsatellite (inframe_insertion +1 more)	AR-related disorder	GLikely benign
Select item 3353504	NM_000044.6(AR):c.-547C>T	AR	Single nucleotide variant (5 prime UTR variant)	AR-related disorder	GLikely pathogenic
Select item 3349323	NM_000044.6(AR):c.260dup (p.Gln88fs)	AR, LOC109504725 (Q88fs)	Duplication (frameshift variant +1 more)	AR-related disorder	GPathogenic
Select item 3347404	NM_000044.6(AR):c.2673_2675dup (p.Phe892_Pro893insPhe)	AR	Duplication (inframe_insertion)	AR-related disorder	GLikely pathogenic
Select item 3340612	NM_000044.6(AR):c.2063C>T (p.Ala688Val)	AR (A156V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3340490	NM_000044.6(AR):c.1095C>A (p.Tyr365Ter)	AR (Y365*)	Single nucleotide variant (nonsense +1 more)	Complete androgen insensitivity syndrome	GPathogenic
Select item 3340452	NM_000044.6(AR):c.1277C>A (p.Ser426Ter)	AR (S426*)	Single nucleotide variant (nonsense +1 more)	Androgen resistance syndrome	GPathogenic
Select item 3340138	NM_000044.6(AR):c.1421_1425dup (p.Gly476fs)	AR (G476fs)	Duplication (frameshift variant +1 more)	Androgen resistance syndrome	GLikely pathogenic
Select item 3339499	NM_000044.6(AR):c.88G>A (p.Val30Met)	AR (V30M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3337810	NM_000044.6(AR):c.2293T>C (p.Phe765Leu)	AR (F233L +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3337809	NM_000044.6(AR):c.1098C>G (p.Asn366Lys)	AR (N366K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3336688	NM_000044.6(AR):c.1344_1345insTA (p.Pro449fs)	AR (P449fs)	Insertion (frameshift variant +1 more)	Androgen resistance syndrome	GPathogenic
Select item 3336687	NM_000044.6(AR):c.2302G>T (p.Asp768Tyr)	AR (D236Y +1 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome	GLikely pathogenic
Select item 3336686	NM_000044.6(AR):c.3G>A (p.Met1Ile)	AR (M1I)	Single nucleotide variant (missense variant +2 more)	Androgen resistance syndrome	GPathogenic
Select item 3336685	NM_000044.6(AR):c.2287C>G (p.Leu763Val)	AR (L231V +1 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome	GLikely pathogenic
Select item 3309309	NM_000044.6(AR):c.1954C>G (p.Pro652Ala)	AR (P120A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3309298	NM_000044.6(AR):c.1084C>G (p.Arg362Gly)	AR (R362G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3255195	NM_000044.6(AR):c.1835G>C (p.Cys612Ser)	AR (C612S +1 more)	Single nucleotide variant (missense variant +1 more)	Androgen resistance syndrome	GLikely pathogenic
Select item 3250420	NM_000044.6(AR):c.2521C>A (p.Arg841Ser)	AR (R309S +2 more)	Single nucleotide variant (missense variant)	Partial androgen insensitivity syndrome	GUncertain significance
Select item 3246916	NC_000023.10:g.(?_63409759)_(71933728_?)dup	AMER1, AR +55 more	Duplication	not provided	GUncertain significance
Select item 3246540	NC_000023.10:g.(?_66863078)_(67339194_?)dup	AR, OPHN1	Duplication	not provided	GUncertain significance
Select item 3244216	NC_000023.10:g.(?_66863078)_(66863269_?)del	AR	Deletion	Androgen resistance syndrome +1 more	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3234702	NM_000044.6(AR):c.1337T>G (p.Leu446Trp)	AR (L446W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3234240	NM_000044.6(AR):c.1886-3T>A	AR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3128180	NM_000044.6(AR):c.865G>A (p.Glu289Lys)	AR (E289K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3128179	NM_000044.6(AR):c.1024C>T (p.Pro342Ser)	AR (P342S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3068454	NM_000044.6(AR):c.2201A>G (p.Gln734Arg)	AR (Q202R +2 more)	Single nucleotide variant (missense variant)	Partial androgen insensitivity syndrome	GUncertain significance
Select item 3067406	NM_000044.6(AR):c.1386C>G (p.Gly462=)	AR	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3064514	NM_000044.6(AR):c.1793G>T (p.Ser598Ile)	AR (Q570H +3 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome	GUncertain significance
Select item 3063624	NM_000044.6(AR):c.972C>T (p.Ser324=)	AR	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3062578	GRCh37/hg19 Xq12-13.1(chrX:66896135-68529063)	AR, EFNB1 +4 more	Copy number gain	not specified	GUncertain significance
Select item 3062519	GRCh37/hg19 Xq12(chrX:66671409-66776303)	AR	Copy number loss	not specified	GPathogenic
Select item 3062482	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79122848)	ABCB7, AMER1 +92 more	Copy number gain	not specified	GPathogenic
Select item 3062325	NM_000044.6(AR):c.2079C>G (p.Asn693Lys)	AR (N161K +2 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome	GLikely pathogenic
Select item 3062281	NM_000044.6(AR):c.1873A>G (p.Met625Val)	AR (M625V +2 more)	Single nucleotide variant (missense variant +1 more)	Androgen resistance syndrome	GLikely pathogenic
Select item 3062254	NM_000044.6(AR):c.35del (p.Pro12fs)	AR (P12fs)	Deletion (frameshift variant +1 more)	Androgen resistance syndrome	GLikely pathogenic
Select item 3062241	NM_000044.6(AR):c.2449+1G>A	AR	Single nucleotide variant (splice donor variant)	Androgen resistance syndrome	GLikely pathogenic
Select item 3061775	NM_000044.6(AR):c.2360G>A (p.Arg787Gln)	AR (R255Q +2 more)	Single nucleotide variant (missense variant)	Male infertility	GLikely pathogenic
Select item 3061774	NM_000044.6(AR):c.2059T>C (p.Cys687Arg)	AR (C155R +2 more)	Single nucleotide variant (missense variant)	Male infertility	GPathogenic
Select item 3061773	NM_000044.6(AR):c.1852C>T (p.Arg618Trp)	AR (R618W +2 more)	Single nucleotide variant (missense variant +1 more)	Male infertility	GLikely pathogenic
Select item 3061772	NM_000044.6(AR):c.1244A>G (p.His415Arg)	AR (H415R)	Single nucleotide variant (missense variant +1 more)	Male infertility	GUncertain significance
Select item 3061771	NM_000044.6(AR):c.1223A>G (p.Tyr408Cys)	AR (Y408C)	Single nucleotide variant (missense variant +1 more)	Male infertility +1 more	GUncertain significance
Select item 3061770	NM_000044.6(AR):c.1141C>T (p.Pro381Ser)	AR (P381S)	Single nucleotide variant (missense variant +1 more)	Male infertility	GUncertain significance
Select item 3061769	NM_000044.6(AR):c.1005C>G (p.Ser335Arg)	AR (S335R)	Single nucleotide variant (missense variant +1 more)	Male infertility	GUncertain significance
Select item 3061768	NM_000044.6(AR):c.937A>G (p.Lys313Glu)	AR (K313E)	Single nucleotide variant (missense variant +1 more)	Male infertility	GUncertain significance
Select item 3061767	NM_000044.6(AR):c.277G>A (p.Glu93Lys)	AR (E93K)	Single nucleotide variant (missense variant +1 more)	Male infertility	GUncertain significance
Select item 3061398	NM_000044.6(AR):c.2743del (p.Ile915fs)	AR (I383fs +1 more)	Deletion (frameshift variant)	AR-related disorder	GPathogenic
Select item 3053691	NM_000044.6(AR):c.171GCA[9] (p.Gln67_Gln80del)	AR, LOC109504725	Microsatellite (5 prime UTR variant +1 more)	AR-related disorder	GBenign
Select item 3047828	NM_000044.6(AR):c.171GCA[8] (p.Gln66_Gln80del)	AR, LOC109504725	Microsatellite (5 prime UTR variant +1 more)	AR-related disorder	GLikely benign
Select item 3046456	NM_000044.6(AR):c.1944C>T (p.Ser648=)	AR	Single nucleotide variant (synonymous variant)	AR-related disorder	GLikely benign
Select item 3046291	NM_000044.6(AR):c.1616+1_1616+2dup	AR	Duplication (splice donor variant)	AR-related disorder	GLikely pathogenic
Select item 3043903	NM_000044.6(AR):c.1350TGG[3] (p.Gly473del)	AR (G473del +1 more)	Microsatellite (5 prime UTR variant +1 more)	AR-related disorder	GLikely benign
Select item 3043532	NM_000044.6(AR):c.170_184del (p.Leu57_Gln61del)	AR, LOC109504725	Deletion (inframe_deletion +1 more)	AR-related disorder	GBenign
Select item 3042858	NM_000044.6(AR):c.-543C>A	AR	Single nucleotide variant (5 prime UTR variant)	AR-related disorder	GLikely benign
Select item 3025470	NM_000044.6(AR):c.1368_1376dup (p.Gly473_Glu474insGlyGlyGly)	AR	Duplication (inframe_insertion +2 more)	not provided	GLikely benign
Select item 2954537	NM_000044.6(AR):c.1467G>T (p.Gly489=)	AR	Single nucleotide variant (synonymous variant +1 more)	Androgen resistance syndrome +1 more	GLikely benign
Select item 2954410	NM_000044.6(AR):c.2702C>T (p.Ser901Phe)	AR (S369F +2 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome +1 more	GUncertain significance
Select item 2954363	NM_000044.6(AR):c.1722T>C (p.Ala574=)	AR	Single nucleotide variant (synonymous variant +1 more)	Androgen resistance syndrome +1 more	GLikely benign
Select item 2954216	NM_000044.6(AR):c.1768+15A>C	AR	Single nucleotide variant (intron variant)	Androgen resistance syndrome +1 more	GLikely benign
Select item 2954165	NM_000044.6(AR):c.2289C>T (p.Leu763=)	AR	Single nucleotide variant (synonymous variant)	Androgen resistance syndrome +1 more	GLikely benign
Select item 2953655	NM_000044.6(AR):c.1281C>T (p.Pro427=)	AR	Single nucleotide variant (synonymous variant +1 more)	Androgen resistance syndrome +1 more	GLikely benign
Select item 2953463	NM_000044.6(AR):c.948C>T (p.Tyr316=)	AR	Single nucleotide variant (synonymous variant +1 more)	Androgen resistance syndrome +1 more	GLikely benign
Select item 2953247	NM_000044.6(AR):c.1737C>T (p.Ser579=)	AR	Single nucleotide variant (synonymous variant +1 more)	Androgen resistance syndrome +1 more	GBenign
Select item 2953240	NM_000044.6(AR):c.462C>T (p.Asp154=)	AR	Single nucleotide variant (synonymous variant +1 more)	Androgen resistance syndrome +1 more	GBenign
Select item 2953218	NM_000044.6(AR):c.2608-14A>T	AR	Single nucleotide variant (intron variant)	Androgen resistance syndrome +1 more	GLikely benign
Select item 2952902	NM_000044.6(AR):c.1212G>C (p.Ala404=)	AR	Single nucleotide variant (synonymous variant +1 more)	Androgen resistance syndrome +1 more	GLikely benign
Select item 2952522	NM_000044.6(AR):c.344_345insCAGATGAGGAACAGCA (p.Gln115delinsHisArgTer)	AR	Insertion (nonsense +2 more)	Androgen resistance syndrome +1 more	GPathogenic
Select item 2952463	NM_000044.6(AR):c.2394C>T (p.Leu798=)	AR	Single nucleotide variant (synonymous variant)	Androgen resistance syndrome +1 more	GLikely benign
Select item 2952341	NM_000044.6(AR):c.1844del (p.Cys615fs)	AR (C83fs +1 more)	Deletion (frameshift variant +1 more)	Androgen resistance syndrome +1 more	GPathogenic
Select item 2952279	NM_000044.6(AR):c.1533A>G (p.Arg511=)	AR	Single nucleotide variant (synonymous variant +1 more)	Androgen resistance syndrome +1 more	GLikely benign
Select item 2952144	NM_000044.6(AR):c.2526C>T (p.Ile842=)	AR	Single nucleotide variant (synonymous variant)	Androgen resistance syndrome +1 more	GBenign
Select item 2951993	NM_000044.6(AR):c.1014A>C (p.Thr338=)	AR	Single nucleotide variant (synonymous variant +1 more)	Androgen resistance syndrome +1 more	GBenign
Select item 2951969	NM_000044.6(AR):c.2598C>A (p.Ser866=)	AR	Single nucleotide variant (synonymous variant)	Androgen resistance syndrome +1 more	GLikely benign
Select item 2951964	NM_000044.6(AR):c.1986G>A (p.Val662=)	AR	Single nucleotide variant (synonymous variant)	Androgen resistance syndrome +1 more	GLikely benign
Select item 2951811	NM_000044.6(AR):c.2310T>C (p.Val770=)	AR	Single nucleotide variant (synonymous variant)	Androgen resistance syndrome +1 more	GLikely benign
Select item 2951581	NM_000044.6(AR):c.1745T>A (p.Val582Asp)	AR (V50D +2 more)	Single nucleotide variant (missense variant +1 more)	Androgen resistance syndrome +1 more	GUncertain significance
Select item 2951546	NM_000044.6(AR):c.384G>A (p.Glu128=)	AR	Single nucleotide variant (synonymous variant +1 more)	Androgen resistance syndrome +1 more	GLikely benign
Select item 2951377	NM_000044.6(AR):c.2345A>G (p.Tyr782Cys)	AR (Y783C +2 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome +1 more	GUncertain significance
Select item 2951291	NM_000044.6(AR):c.239_240insGCAGCAGCAGTAGCAGCAGCAGCAGCA (p.Gln80_Glu81insGlnGlnGlnTer)	AR, LOC109504725	Microsatellite (nonsense +3 more)	Androgen resistance syndrome +1 more	GPathogenic
Select item 2951237	NM_000044.6(AR):c.2097A>G (p.Ala699=)	AR	Single nucleotide variant (synonymous variant)	Androgen resistance syndrome +1 more	GLikely benign
Select item 2951162	NM_000044.6(AR):c.2505del (p.Asn834_Tyr835insTer)	AR	Deletion (nonsense +1 more)	Androgen resistance syndrome +1 more	GPathogenic
Select item 2951093	NM_000044.6(AR):c.2115C>T (p.Leu705=)	AR	Single nucleotide variant (synonymous variant)	Androgen resistance syndrome +1 more	GLikely benign
Select item 2951092	NM_000044.6(AR):c.1885+13T>C	AR	Single nucleotide variant (intron variant)	Androgen resistance syndrome +1 more	GBenign
Select item 2951063	NM_000044.6(AR):c.1395C>T (p.Gly465=)	AR	Single nucleotide variant (synonymous variant +1 more)	Androgen resistance syndrome +1 more	GLikely benign
Select item 2951045	NM_000044.6(AR):c.2319-9C>T	AR	Single nucleotide variant (intron variant)	Androgen resistance syndrome +1 more	GBenign
Select item 2950979	NM_000044.6(AR):c.597G>A (p.Gln199=)	AR	Single nucleotide variant (synonymous variant +1 more)	Androgen resistance syndrome +1 more	GLikely benign
Select item 2950663	NM_000044.6(AR):c.2232G>T (p.Gly744=)	AR	Single nucleotide variant (synonymous variant)	Androgen resistance syndrome +1 more	GLikely benign
Select item 2950542	NM_000044.6(AR):c.1885+13T>A	AR	Single nucleotide variant (intron variant)	Androgen resistance syndrome +1 more	GLikely benign
Select item 2950489	NM_000044.6(AR):c.270G>T (p.Gln90His)	AR, LOC109504725 (Q90H)	Single nucleotide variant (missense variant +1 more)	Androgen resistance syndrome +1 more	GBenign
Select item 2950262	NM_000044.6(AR):c.1017T>C (p.Leu339=)	AR	Single nucleotide variant (synonymous variant +1 more)	Androgen resistance syndrome +1 more	GLikely benign
Select item 2950217	NM_000044.6(AR):c.915T>C (p.Asp305=)	AR	Single nucleotide variant (synonymous variant +1 more)	Androgen resistance syndrome +1 more	GLikely benign
Select item 2950216	NM_000044.6(AR):c.1407C>A (p.Gly469=)	AR	Single nucleotide variant (synonymous variant +1 more)	Androgen resistance syndrome +1 more	GLikely benign
Select item 2950071	NM_000044.6(AR):c.1416C>A (p.Gly472=)	AR	Single nucleotide variant (synonymous variant +1 more)	Androgen resistance syndrome +1 more	GLikely benign
Select item 2949936	NM_000044.6(AR):c.1795A>C (p.Arg599=)	AR (Q571P)	Single nucleotide variant (synonymous variant +1 more)	Androgen resistance syndrome +1 more	GLikely benign
Select item 2949642	NM_000044.6(AR):c.2703T>C (p.Ser901=)	AR	Single nucleotide variant (synonymous variant)	Androgen resistance syndrome +1 more	GLikely benign
Select item 2949398	NM_000044.6(AR):c.2322C>T (p.Tyr774=)	AR	Single nucleotide variant (synonymous variant)	Androgen resistance syndrome +1 more	GLikely benign
Select item 2949326	NM_000044.6(AR):c.2319-1G>C	AR	Single nucleotide variant (splice acceptor variant)	Androgen resistance syndrome +1 more	GPathogenic

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