"OMIM"[submitter] AND "AR"[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 9841	NM_000044.6(AR):c.4G>A (p.Glu2Lys)	AR (E2K)	Single nucleotide variant (missense variant +1 more)	Partial androgen insensitivity syndrome	GPathogenic
Select item 9818	NM_000044.6:c.171GCA[10_36]	AR, LOC109504725	Microsatellite	Kennedy disease	GPathogenic
Select item 9848	NM_000044.6(AR):c.179dup (p.Gln61fs)	AR, LOC109504725 (Q61fs)	Duplication (frameshift variant +1 more)	Androgen resistance syndrome	GPathogenic
Select item 9825	NM_000044.6(AR):c.178C>T (p.Gln60Ter)	AR, LOC109504725 (Q60*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 9815	NM_000044.6(AR):c.180_181del (p.Gln61fs)	LOC109504725, AR (Q61fs)	Deletion (frameshift variant +1 more)	Androgen resistance syndrome	GPathogenic
Select item 9845	NM_000044.6(AR):c.521T>G (p.Leu174Ter)	AR (L174*)	Single nucleotide variant (nonsense +1 more)	Partial androgen insensitivity syndrome	GPathogenic
Select item 9840	NM_000044.6(AR):c.1645C>T (p.Pro549Ser)	AR (P17S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 9853	NM_000044.6(AR):c.1732G>A (p.Gly578Arg)	AR (G46R +1 more)	Single nucleotide variant (missense variant +1 more)	Androgen resistance syndrome	GPathogenic
Select item 9838	NM_000044.6(AR):c.1739G>T (p.Cys580Phe)	AR (C48F +1 more)	Single nucleotide variant (missense variant +1 more)	Androgen resistance syndrome	GPathogenic
Select item 9839	NM_000044.6(AR):c.1748T>A (p.Phe583Tyr)	AR (F51Y +1 more)	Single nucleotide variant (missense variant +1 more)	Androgen resistance syndrome	GPathogenic
Select item 9844	NM_000044.6(AR):c.1769-11T>A	AR (C559S)	Single nucleotide variant (missense variant +1 more)	Partial androgen insensitivity syndrome	GPathogenic
Select item 9808	NM_000044.6(AR):c.1771A>T (p.Lys591Ter)	AR (K59* +2 more)	Single nucleotide variant (nonsense +1 more)	Androgen resistance syndrome	GPathogenic
Select item 9813	NM_000044.6(AR):c.1789G>A (p.Ala597Thr)	AR (A597T +2 more)	Single nucleotide variant (missense variant)	Partial androgen insensitivity syndrome +3 more	GPathogenic
Select item 9820	NM_000044.6(AR):c.1823G>A (p.Arg608Gln)	AR (R608Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 9828	NM_000044.6(AR):c.1826G>A (p.Arg609Lys)	AR (R609K +1 more)	Single nucleotide variant (missense variant +1 more)	Androgen insensitivity, partial, with breast cancer	GPathogenic
Select item 9861	NM_000044.6(AR):c.1937C>A (p.Ala646Asp)	AR (A114D +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 9809	NM_000044.6(AR):c.1943G>A (p.Ser648Asn)	AR (S116N +1 more)	Single nucleotide variant (missense variant)	Prostate cancer, somatic	GPathogenic
Select item 9832	NM_000044.6(AR):c.2033T>C (p.Leu678Pro)	AR (L146P +1 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome	GPathogenic
Select item 9856	NM_000044.6(AR):c.2069A>C (p.His690Pro)	AR (H158P +1 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome	GPathogenic
Select item 9837	NM_000044.6(AR):c.2123T>G (p.Leu708Arg)	AR (L176R +1 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome	GPathogenic
Select item 9852	NM_000044.6(AR):c.2137C>T (p.Leu713Phe)	AR (L181F +1 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome	GPathogenic
Select item 9805	NM_000044.6(AR):c.2157G>A (p.Trp719Ter)	AR (W187* +1 more)	Single nucleotide variant (nonsense)	Androgen resistance syndrome	GPathogenic
Select item 9836	NM_000044.6(AR):c.2164G>A (p.Ala722Thr)	AR (A190T +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 9849	NM_000044.6(AR):c.2180G>T (p.Arg727Leu)	AR (R195L +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate +2 more	GConflicting classifications of pathogenicity
Select item 9817	NM_000044.6(AR):c.2191G>A (p.Val731Met)	AR (V199M +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate +2 more	GConflicting classifications of pathogenicity
Select item 9860	NM_000044.6(AR):c.2222C>G (p.Ser741Cys)	AR (S209C +1 more)	Single nucleotide variant (missense variant)	Partial androgen insensitivity syndrome	GPathogenic
Select item 9858	NM_000044.6(AR):c.2231G>A (p.Gly744Glu)	AR (G212E +1 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome	GPathogenic
Select item 9857	NM_000044.6(AR):c.2231G>T (p.Gly744Val)	AR (G212V +1 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome +1 more	GPathogenic
Select item 9859	NM_000044.6(AR):c.2281_2287delinsTTCGCCCCTGA (p.Arg761fs)	AR (R229fs +1 more)	Indel (frameshift variant)	Androgen resistance syndrome	GPathogenic
Select item 9810	NM_000044.6(AR):c.2291A>G (p.Tyr764Cys)	AR (Y232C +1 more)	Single nucleotide variant (missense variant)	Partial androgen insensitivity syndrome	GPathogenic
Select item 9804	NM_000044.6(AR):c.2323C>T (p.Arg775Cys)	AR (R775C +1 more)	Single nucleotide variant (missense variant)	Kennedy disease +2 more	GPathogenic
Select item 9819	NM_000044.6(AR):c.2324G>A (p.Arg775His)	AR (R243H +1 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome +2 more	GPathogenic
Select item 9842	NM_000044.6(AR):c.2343G>T (p.Met781Ile)	AR (M249I +1 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome	GPathogenic
Select item 9814	NM_000044.6(AR):c.2362A>G (p.Met788Val)	AR (M256V +1 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome	GPathogenic
Select item 9807	NM_000044.6(AR):c.2391G>A (p.Trp797Ter)	AR (W265* +1 more)	Single nucleotide variant (nonsense)	Androgen resistance syndrome +1 more	GPathogenic
Select item 9846	NM_000044.6(AR):c.2395C>G (p.Gln799Glu)	AR (Q267E +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 9847	NM_000044.6(AR):c.2423T>C (p.Met808Thr)	AR (M276T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 9851	NM_000044.6(AR):c.2449+5G>T	AR	Single nucleotide variant (intron variant)	Partial androgen insensitivity syndrome	GPathogenic
Select item 9830	NM_000044.6(AR):c.2521C>T (p.Arg841Cys)	AR (R309C +1 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome +2 more	GPathogenic
Select item 9829	NM_000044.6(AR):c.2522G>A (p.Arg841His)	AR (R309H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 9823	NM_000044.6(AR):c.2567G>A (p.Arg856His)	AR (R856H +1 more)	Single nucleotide variant (missense variant)	Kennedy disease +2 more	GPathogenic/Likely pathogenic
Select item 9816	NM_000044.6(AR):c.2571C>G (p.Phe857Leu)	AR (F325L +1 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome	GPathogenic
Select item 9854	NM_000044.6(AR):c.2596T>C (p.Ser866Pro)	AR (S334P +1 more)	Single nucleotide variant (missense variant)	Androgen resistance syndrome	GPathogenic
Select item 9822	NM_000044.6(AR):c.2599G>T (p.Val867Leu)	AR (V335L +1 more)	Single nucleotide variant (missense variant)	Partial androgen insensitivity syndrome	GPathogenic
Select item 9806	NM_000044.6(AR):c.2599G>A (p.Val867Met)	AR (V335M +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate +5 more	GPathogenic
Select item 9824	NM_000044.6(AR):c.2610T>G (p.Ile870Met)	AR (I338M +1 more)	Single nucleotide variant (missense variant)	Hypospadias 1, X-linked	GPathogenic
Select item 9834	NM_000044.6(AR):c.2623C>T (p.His875Tyr)	AR (H343Y +1 more)	Single nucleotide variant (missense variant)	Prostate cancer, somatic	GPathogenic
Select item 9831	NM_000044.6(AR):c.2632A>G (p.Thr878Ala)	AR (T346A +1 more)	Single nucleotide variant (missense variant)	Prostate cancer, somatic +1 more	GPathogenic OOncogenic
Select item 9833	NM_000044.6(AR):c.2633C>G (p.Thr878Ser)	AR (T346S +1 more)	Single nucleotide variant (missense variant)	Prostate cancer, somatic	GPathogenic
Select item 9811	NM_000044.6(AR):c.2650A>T (p.Lys884Ter)	AR (K352* +1 more)	Single nucleotide variant (nonsense)	Androgen resistance syndrome	GPathogenic
Select item 9850	NM_000044.6(AR):c.2667C>T (p.Ser889=)	AR	Single nucleotide variant (synonymous variant)	not provided +2 more	GPathogenic
Select item 9835	NM_000044.6(AR):c.2708A>G (p.Gln903Arg)	AR (Q371R +1 more)	Single nucleotide variant (missense variant)	Prostate cancer, somatic	GPathogenic
Select item 9827	NM_000044.3(AR):c.(2318+1_2319-1)_(2607+1_2608-1)del	AR	Deletion	Androgen resistance syndrome	GPathogenic
Select item 9826	NM_000044.3(AR):c.(2173+1_2174-1)_(2318+1_2319-1)del	AR	Deletion	Androgen resistance syndrome	GPathogenic
Select item 9803	AR, PARTIAL DEL	AR	Deletion	Androgen resistance syndrome	GPathogenic
Select item 9802	NG_009014.2:g.(7732_?)del	AR	Deletion	Androgen resistance syndrome	GPathogenic

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Items: 56