ClinVar for Gene (Select 367) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 1096

<< First< Prev

Page of 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3911570	NM_000044.6(AR):c.1368delinsGGGC (p.Gly473_Glu474insGly)	AR	Indel (5 prime UTR variant)	not specified	GLikely benign
Select item 3911569	NM_000044.6(AR):c.1368delinsGGGCGGC (p.Gly473_Glu474insGlyGly)	AR	Indel (5 prime UTR variant)	not specified	GLikely benign
Select item 3907279	NM_000044.6(AR):c.796G>A (p.Asp266Asn)	AR (D266N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3907188	NM_000044.6(AR):c.2291A>T (p.Tyr764Phe)	AR (Y232F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3903160	NM_000044.6(AR):c.2607+1G>A	AR	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 3902201	NM_000044.6(AR):c.2143C>A (p.His715Asn)	AR (H183N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3896317	NM_000044.6(AR):c.884T>C (p.Leu295Pro)	AR (L295P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3893234	NM_000044.6(AR):c.1769G>A (p.Gly590Glu)	AR (G58E +1 more)	Single nucleotide variant (missense variant +1 more)	Androgen resistance syndrome	GLikely pathogenic
Select item 3779951	NM_000044.6(AR):c.649G>A (p.Ala217Thr)	AR (A217T)	Single nucleotide variant (missense variant +1 more)	Kennedy disease	GUncertain significance
Select item 3776628	NM_000044.6(AR):c.349del (p.Ser117fs)	AR (S117fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3775706	NM_000044.6(AR):c.2740C>T (p.Pro914Ser)	AR (P382S +1 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome	GLikely pathogenic
Select item 3769283	NM_000044.6(AR):c.1144C>T (p.His382Tyr)	AR (H382Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3767296	NM_000044.6(AR):c.2246C>T (p.Ala749Val)	AR (A217V +1 more)	Single nucleotide variant (missense variant)	Disorder of sexual differentiation	GLikely pathogenic
Select item 3765015	NM_000044.6(AR):c.2720T>G (p.Ile907Ser)	AR (I375S +1 more)	Single nucleotide variant (missense variant)	Neoplasm	OUncertain significance
Select item 3763796	NM_000044.6(AR):c.2013G>A (p.Gln671=)	AR	Single nucleotide variant (synonymous variant)	Androgen resistance syndrome +1 more	GLikely benign
Select item 3763778	NM_000044.6(AR):c.2347A>G (p.Ser783Gly)	AR (S251G +1 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome +1 more	GUncertain significance
Select item 3762464	NM_000044.6(AR):c.150C>A (p.Pro50=)	AR	Single nucleotide variant (synonymous variant +1 more)	Androgen resistance syndrome +1 more	GLikely benign
Select item 3762221	NM_000044.6(AR):c.2608-16_2608-15del	AR	Deletion (intron variant)	Androgen resistance syndrome +1 more	GLikely benign
Select item 3761867	NM_000044.6(AR):c.160_162dup (p.Leu57_Gln58insLeu)	AR	Duplication (inframe_insertion +1 more)	Androgen resistance syndrome +1 more	GLikely pathogenic
Select item 3760898	NM_000044.6(AR):c.744C>T (p.Gly248=)	AR	Single nucleotide variant (synonymous variant +1 more)	Androgen resistance syndrome +1 more	GLikely benign
Select item 3760521	NM_000044.6(AR):c.2714C>T (p.Pro905Leu)	AR (P373L +1 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome +1 more	GLikely pathogenic
Select item 3760122	NM_000044.6(AR):c.243_244del (p.Glu81fs)	AR, LOC109504725 (E81fs)	Microsatellite (frameshift variant +1 more)	Androgen resistance syndrome +1 more	GPathogenic
Select item 3759969	NM_000044.6(AR):c.241_242insCA (p.Glu81fs)	LOC109504725, AR (E81fs)	Insertion (frameshift variant +1 more)	Androgen resistance syndrome +1 more	GPathogenic
Select item 3759772	NM_000044.6(AR):c.2575C>T (p.Gln859Ter)	AR (Q327* +1 more)	Single nucleotide variant (nonsense)	Androgen resistance syndrome +1 more	GPathogenic
Select item 3759650	NM_000044.6(AR):c.2716A>G (p.Lys906Glu)	AR (K374E +1 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome +1 more	GUncertain significance
Select item 3759649	NM_000044.6(AR):c.2612C>A (p.Ala871Glu)	AR (A339E +1 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome +1 more	GPathogenic
Select item 3759648	NM_000044.6(AR):c.2297C>T (p.Ala766Val)	AR (A234V +1 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome +1 more	GUncertain significance
Select item 3759647	NM_000044.6(AR):c.2046G>T (p.Glu682Asp)	AR (E150D +1 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome +1 more	GLikely pathogenic
Select item 3759645	NM_000044.6(AR):c.1757G>A (p.Arg586Lys)	AR (R54K +1 more)	Single nucleotide variant (missense variant +1 more)	Androgen resistance syndrome +1 more	GLikely pathogenic
Select item 3759644	NM_000044.6(AR):c.1747TTC[1] (p.Phe584del)	AR (F52del +1 more)	Microsatellite (inframe_deletion +1 more)	Androgen resistance syndrome +1 more	GPathogenic
Select item 3759235	NM_000044.6(AR):c.1307_1310dup (p.Leu438fs)	AR (L438fs)	Microsatellite (frameshift variant +1 more)	Androgen resistance syndrome +1 more	GPathogenic
Select item 3759165	NM_000044.6(AR):c.732G>C (p.Ser244=)	AR	Single nucleotide variant (synonymous variant +1 more)	Androgen resistance syndrome +1 more	GLikely benign
Select item 3758542	NM_000044.6(AR):c.858A>G (p.Pro286=)	AR	Single nucleotide variant (synonymous variant +1 more)	Androgen resistance syndrome +1 more	GLikely benign
Select item 3757938	NM_000044.6(AR):c.1769-3C>A	AR	Single nucleotide variant (synonymous variant +1 more)	Androgen resistance syndrome +1 more	GUncertain significance
Select item 3757422	NM_000044.6(AR):c.2408A>T (p.Gln803Leu)	AR (Q271L +1 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome +1 more	GUncertain significance
Select item 3757284	NM_000044.6(AR):c.2209G>T (p.Val737Phe)	AR (V205F +1 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome +1 more	GUncertain significance
Select item 3757151	NM_000044.6(AR):c.466_475del (p.Asp156fs)	AR (D156fs)	Deletion (frameshift variant +1 more)	Androgen resistance syndrome +1 more	GPathogenic
Select item 3756727	NM_000044.6(AR):c.2421C>A (p.Cys807Ter)	AR (C275* +1 more)	Single nucleotide variant (nonsense)	Androgen resistance syndrome +1 more	GPathogenic
Select item 3756540	NM_000044.6(AR):c.2696T>A (p.Ile899Asn)	AR (I367N +1 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome +1 more	GUncertain significance
Select item 3756175	NM_000044.6(AR):c.2669T>C (p.Val890Ala)	AR (V358A +1 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome +1 more	GUncertain significance
Select item 3756074	NM_000044.6(AR):c.2637del (p.Phe879fs)	AR (F347fs +1 more)	Deletion (frameshift variant)	Androgen resistance syndrome +1 more	GPathogenic
Select item 3756028	NM_000044.6(AR):c.1076A>T (p.Tyr359Phe)	AR (Y359F)	Single nucleotide variant (missense variant +1 more)	Androgen resistance syndrome +1 more	GUncertain significance
Select item 3755782	NM_000044.6(AR):c.2148_2150del (p.Val717del)	AR (V185del +1 more)	Deletion (inframe_deletion)	Androgen resistance syndrome +1 more	GUncertain significance
Select item 3755704	NM_000044.6(AR):c.928_929del (p.Ser310fs)	AR (S310fs)	Deletion (frameshift variant +1 more)	Androgen resistance syndrome +1 more	GPathogenic
Select item 3755562	NM_000044.6(AR):c.2311T>C (p.Phe771Leu)	AR (F239L +1 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome +1 more	GUncertain significance
Select item 3755432	NM_000044.6(AR):c.1519G>A (p.Gly507Ser)	AR (G507S)	Single nucleotide variant (missense variant +1 more)	Androgen resistance syndrome +1 more	GLikely benign
Select item 3754616	NM_000044.6(AR):c.1768+13G>T	AR	Single nucleotide variant (intron variant)	Androgen resistance syndrome +1 more	GLikely benign
Select item 3754292	NM_000044.6(AR):c.2323C>G (p.Arg775Gly)	AR (R243G +1 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome +1 more	GUncertain significance
Select item 3752625	NM_000044.6(AR):c.239_240insGC (p.Glu81fs)	AR, LOC109504725 (E81fs)	Insertion (frameshift variant +1 more)	Androgen resistance syndrome +1 more	GPathogenic
Select item 3752100	NM_000044.6(AR):c.1281C>A (p.Pro427=)	AR	Single nucleotide variant (synonymous variant +1 more)	Androgen resistance syndrome +1 more	GLikely benign
Select item 3751377	NM_000044.6(AR):c.1240C>T (p.Leu414=)	AR	Single nucleotide variant (synonymous variant +1 more)	Androgen resistance syndrome +1 more	GLikely benign
Select item 3748635	NM_000044.6(AR):c.987C>A (p.Gly329=)	AR	Single nucleotide variant (synonymous variant +1 more)	Kennedy disease +1 more	GLikely benign
Select item 3602178	NM_000044.6(AR):c.2317_2318+2del	AR	Deletion (splice donor variant)	not provided	GPathogenic
Select item 3598420	NM_000044.6(AR):c.610G>T (p.Glu204Ter)	AR (E204*)	Single nucleotide variant (nonsense +1 more)	Hypospadias 1, X-linked +4 more	GPathogenic
Select item 3572937	NM_000044.6(AR):c.1828A>G (p.Lys610Glu)	AR (K610E +1 more)	Single nucleotide variant (missense variant +1 more)	Androgen resistance syndrome	GLikely pathogenic
Select item 3419247	NM_000044.6(AR):c.758C>G (p.Ala253Gly)	AR (A253G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3419238	NM_000044.6(AR):c.1073C>A (p.Ala358Glu)	AR (A358E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3419210	NM_000044.6(AR):c.1459C>A (p.Pro487Thr)	AR (P487T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3384924	NM_000044.6(AR):c.1520G>A (p.Gly507Asp)	AR (G507D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3383400	NM_000044.6(AR):c.170_178del (p.Leu57_Gln59del)	AR, LOC109504725	Deletion (5 prime UTR variant)	See cases	GUncertain significance
Select item 3382976	NM_000044.6(AR):c.154_220del (p.Ala52fs)	AR, LOC109504725 (A52fs)	Deletion (frameshift variant +1 more)	Hypospadias 1, X-linked +4 more	GPathogenic
Select item 3367174	NM_000044.6(AR):c.2318+3_2318+6del	AR	Deletion (splice donor variant)	Androgen resistance syndrome	GLikely pathogenic
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	IGBP1, IGSF1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3364216	NM_000044.6(AR):c.545A>C (p.Lys182Thr)	AR (K182T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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	GLikely pathogenic
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)	Androgen resistance syndrome +2 more	GPathogenic/Likely 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	APOOL, LOC130067933 +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)	Inborn genetic diseases +1 more	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)	Androgen resistance syndrome +2 more	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

<< First< Prev

Page of 11