ClinVar for MedGen (Select 21102) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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)	Kennedy disease +1 more	GLikely benign
Select item 2953247	NM_000044.6(AR):c.1737C>T (p.Ser579=)	AR	Single nucleotide variant (synonymous variant +1 more)	Kennedy disease +1 more	GBenign
Select item 2953240	NM_000044.6(AR):c.462C>T (p.Asp154=)	AR	Single nucleotide variant (synonymous variant +1 more)	Kennedy disease +1 more	GBenign
Select item 2953218	NM_000044.6(AR):c.2608-14A>T	AR	Single nucleotide variant (intron variant)	Kennedy disease +1 more	GLikely benign
Select item 2952902	NM_000044.6(AR):c.1212G>C (p.Ala404=)	AR	Single nucleotide variant (synonymous variant +1 more)	Kennedy disease +1 more	GLikely benign
Select item 2952522	NM_000044.6(AR):c.344_345insCAGATGAGGAACAGCA (p.Gln115delinsHisArgTer)	AR	Insertion (nonsense +2 more)	Kennedy disease +1 more	GPathogenic
Select item 2952463	NM_000044.6(AR):c.2394C>T (p.Leu798=)	AR	Single nucleotide variant (synonymous variant)	Kennedy disease +1 more	GLikely benign
Select item 2952341	NM_000044.6(AR):c.1844del (p.Cys615fs)	AR (C83fs +1 more)	Deletion (frameshift variant +1 more)	Kennedy disease +1 more	GPathogenic
Select item 2952279	NM_000044.6(AR):c.1533A>G (p.Arg511=)	AR	Single nucleotide variant (synonymous variant +1 more)	Kennedy disease +1 more	GLikely benign
Select item 2952144	NM_000044.6(AR):c.2526C>T (p.Ile842=)	AR	Single nucleotide variant (synonymous variant)	Kennedy disease +1 more	GBenign
Select item 2951993	NM_000044.6(AR):c.1014A>C (p.Thr338=)	AR	Single nucleotide variant (synonymous variant +1 more)	Kennedy disease +1 more	GBenign
Select item 2951969	NM_000044.6(AR):c.2598C>A (p.Ser866=)	AR	Single nucleotide variant (synonymous variant)	Kennedy disease +1 more	GLikely benign
Select item 2951964	NM_000044.6(AR):c.1986G>A (p.Val662=)	AR	Single nucleotide variant (synonymous variant)	Kennedy disease +1 more	GLikely benign
Select item 2951811	NM_000044.6(AR):c.2310T>C (p.Val770=)	AR	Single nucleotide variant (synonymous variant)	Kennedy disease +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)	Kennedy disease +1 more	GUncertain significance
Select item 2951546	NM_000044.6(AR):c.384G>A (p.Glu128=)	AR	Single nucleotide variant (synonymous variant +1 more)	Kennedy disease +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)	Kennedy disease +1 more	GUncertain significance
Select item 2951291	NM_000044.6(AR):c.239_240insGCAGCAGCAGTAGCAGCAGCAGCAGCA (p.Gln80_Glu81insGlnGlnGlnTer)	AR, LOC109504725	Microsatellite (nonsense +3 more)	Kennedy disease +1 more	GPathogenic
Select item 2951237	NM_000044.6(AR):c.2097A>G (p.Ala699=)	AR	Single nucleotide variant (synonymous variant)	Kennedy disease +1 more	GLikely benign
Select item 2951162	NM_000044.6(AR):c.2505del (p.Asn834_Tyr835insTer)	AR	Deletion (nonsense +1 more)	Kennedy disease +1 more	GPathogenic
Select item 2951093	NM_000044.6(AR):c.2115C>T (p.Leu705=)	AR	Single nucleotide variant (synonymous variant)	Kennedy disease +1 more	GLikely benign
Select item 2951092	NM_000044.6(AR):c.1885+13T>C	AR	Single nucleotide variant (intron variant)	Kennedy disease +1 more	GBenign
Select item 2951063	NM_000044.6(AR):c.1395C>T (p.Gly465=)	AR	Single nucleotide variant (synonymous variant +1 more)	Kennedy disease +1 more	GLikely benign
Select item 2951045	NM_000044.6(AR):c.2319-9C>T	AR	Single nucleotide variant (intron variant)	Kennedy disease +1 more	GBenign
Select item 2950979	NM_000044.6(AR):c.597G>A (p.Gln199=)	AR	Single nucleotide variant (synonymous variant +1 more)	Kennedy disease +1 more	GLikely benign
Select item 2950663	NM_000044.6(AR):c.2232G>T (p.Gly744=)	AR	Single nucleotide variant (synonymous variant)	Kennedy disease +1 more	GLikely benign
Select item 2950542	NM_000044.6(AR):c.1885+13T>A	AR	Single nucleotide variant (intron variant)	Kennedy disease +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)	Kennedy disease +1 more	GBenign
Select item 2950262	NM_000044.6(AR):c.1017T>C (p.Leu339=)	AR	Single nucleotide variant (synonymous variant +1 more)	Kennedy disease +1 more	GLikely benign
Select item 2950217	NM_000044.6(AR):c.915T>C (p.Asp305=)	AR	Single nucleotide variant (synonymous variant +1 more)	Kennedy disease +1 more	GLikely benign
Select item 2950216	NM_000044.6(AR):c.1407C>A (p.Gly469=)	AR	Single nucleotide variant (synonymous variant +1 more)	Kennedy disease +1 more	GLikely benign
Select item 2950071	NM_000044.6(AR):c.1416C>A (p.Gly472=)	AR	Single nucleotide variant (synonymous variant +1 more)	Kennedy disease +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)	Kennedy disease +1 more	GLikely benign
Select item 2949642	NM_000044.6(AR):c.2703T>C (p.Ser901=)	AR	Single nucleotide variant (synonymous variant)	Kennedy disease +1 more	GLikely benign
Select item 2949398	NM_000044.6(AR):c.2322C>T (p.Tyr774=)	AR	Single nucleotide variant (synonymous variant)	Kennedy disease +1 more	GLikely benign
Select item 2949326	NM_000044.6(AR):c.2319-1G>C	AR	Single nucleotide variant (splice acceptor variant)	Kennedy disease +1 more	GPathogenic
Select item 2949312	NM_000044.6(AR):c.1886-4A>G	AR	Single nucleotide variant (intron variant)	Kennedy disease +1 more	GLikely benign
Select item 2949305	NM_000044.6(AR):c.1812T>C (p.Ile604=)	AR	Single nucleotide variant (synonymous variant +1 more)	Kennedy disease +1 more	GLikely benign
Select item 2949279	NM_000044.6(AR):c.1768+14C>T	AR	Single nucleotide variant (intron variant)	Kennedy disease +1 more	GLikely benign
Select item 2949107	NM_000044.6(AR):c.2460T>C (p.Asp820=)	AR	Single nucleotide variant (synonymous variant)	Kennedy disease +1 more	GLikely benign
Select item 2949106	NM_000044.6(AR):c.381C>G (p.Pro127=)	AR	Single nucleotide variant (synonymous variant +1 more)	Kennedy disease +1 more	GLikely benign
Select item 2949018	NM_000044.6(AR):c.187C>T (p.Gln63Ter)	AR, LOC109504725 (Q63*)	Single nucleotide variant (nonsense +1 more)	Kennedy disease +1 more	GPathogenic
Select item 2948938	NM_000044.6(AR):c.2450-8C>T	AR	Single nucleotide variant (intron variant)	Kennedy disease +1 more	GLikely benign
Select item 2948806	NM_000044.6(AR):c.795G>T (p.Gly265=)	AR	Single nucleotide variant (synonymous variant +1 more)	Kennedy disease +1 more	GLikely benign
Select item 2948770	NM_000044.6(AR):c.1959T>G (p.Thr653=)	AR	Single nucleotide variant (synonymous variant)	Kennedy disease +1 more	GLikely benign
Select item 2948697	NM_000044.6(AR):c.1377C>T (p.Gly459=)	AR	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 2948694	NM_000044.6(AR):c.1374C>T (p.Gly458=)	AR	Single nucleotide variant (synonymous variant +1 more)	Kennedy disease +1 more	GLikely benign
Select item 2948674	NM_000044.6(AR):c.2760G>A (p.Gln920=)	AR	Single nucleotide variant (synonymous variant)	Kennedy disease +1 more	GLikely benign
Select item 2948419	NM_000044.6(AR):c.1068A>T (p.Ala356=)	AR	Single nucleotide variant (synonymous variant +1 more)	Kennedy disease +1 more	GLikely benign
Select item 2948323	NM_000044.6(AR):c.2607+17G>C	AR	Single nucleotide variant (intron variant)	Kennedy disease +1 more	GLikely benign
Select item 2947939	NM_000044.6(AR):c.201G>A (p.Gln67=)	AR, LOC109504725	Single nucleotide variant (synonymous variant +1 more)	Kennedy disease +1 more	GLikely benign
Select item 2947861	NM_000044.6(AR):c.2319-13_2319-11dup	AR	Duplication (intron variant)	Kennedy disease +1 more	GLikely benign
Select item 2947640	NM_000044.6(AR):c.2465T>A (p.Leu822Gln)	AR (L823Q +2 more)	Single nucleotide variant (missense variant)	Kennedy disease +1 more	GUncertain significance
Select item 2947606	NM_000044.6(AR):c.546dup (p.Asp183fs)	AR (D183fs)	Duplication (frameshift variant +1 more)	Kennedy disease +1 more	GPathogenic
Select item 2947476	NM_000044.6(AR):c.828A>T (p.Pro276=)	AR	Single nucleotide variant (synonymous variant +1 more)	Kennedy disease +1 more	GLikely benign
Select item 2947363	NM_000044.6(AR):c.2481C>G (p.Phe827Leu)	AR (F828L +2 more)	Single nucleotide variant (missense variant)	Kennedy disease +1 more	GLikely benign
Select item 2947102	NM_000044.6(AR):c.1157G>A (p.Arg386His)	AR (R386H)	Single nucleotide variant (missense variant +1 more)	Kennedy disease +1 more	GBenign
Select item 2947024	NM_000044.6(AR):c.1947C>T (p.Thr649=)	AR	Single nucleotide variant (synonymous variant)	Kennedy disease +1 more	GLikely benign
Select item 2946797	NM_000044.6(AR):c.2073C>T (p.Asp691=)	AR	Single nucleotide variant (synonymous variant)	Kennedy disease +1 more	GBenign
Select item 2946774	NM_000044.6(AR):c.1248C>A (p.Gly416=)	AR	Single nucleotide variant (synonymous variant +1 more)	Kennedy disease +1 more	GLikely benign
Select item 2946760	NM_000044.6(AR):c.2061T>C (p.Cys687=)	AR	Single nucleotide variant (synonymous variant)	Kennedy disease +1 more	GLikely benign
Select item 2946727	NM_000044.6(AR):c.170AGC[7] (p.Leu56_Leu57insGlnGlnGlnGlnGlnGlnGln)	AR	Microsatellite (inframe_insertion +2 more)	Kennedy disease +1 more	GBenign
Select item 2946619	NM_000044.6(AR):c.1769-13T>G	AR (I558S)	Single nucleotide variant (missense variant +1 more)	Kennedy disease +1 more	GUncertain significance
Select item 2946611	NM_000044.6(AR):c.593A>T (p.Gln198Leu)	AR (Q198L)	Single nucleotide variant (missense variant +1 more)	Kennedy disease +1 more	GLikely benign
Select item 2946588	NM_000044.6(AR):c.519C>G (p.Gly173=)	AR	Single nucleotide variant (synonymous variant +1 more)	Kennedy disease +1 more	GBenign
Select item 2946522	NM_000044.6(AR):c.119G>A (p.Arg40Lys)	AR (R40K)	Single nucleotide variant (missense variant +1 more)	Kennedy disease +1 more	GLikely benign
Select item 2946479	NM_000044.6(AR):c.1587T>C (p.Asp529=)	AR	Single nucleotide variant (synonymous variant +1 more)	Kennedy disease +1 more	GLikely benign
Select item 2946471	NM_000044.6(AR):c.1467G>A (p.Gly489=)	AR	Single nucleotide variant (synonymous variant +1 more)	Kennedy disease +1 more	GLikely benign
Select item 2946383	NM_000044.6(AR):c.363G>A (p.Ser121=)	AR	Single nucleotide variant (synonymous variant +1 more)	Kennedy disease +1 more	GLikely benign
Select item 2946277	NM_000044.6(AR):c.2295C>T (p.Phe765=)	AR	Single nucleotide variant (synonymous variant)	Kennedy disease +1 more	GBenign
Select item 2946168	NM_000044.6(AR):c.2607+12A>G	AR	Single nucleotide variant (intron variant)	Kennedy disease +1 more	GBenign
Select item 2946057	NM_000044.6(AR):c.621C>G (p.Ser207Arg)	AR (S207R)	Single nucleotide variant (missense variant +1 more)	Kennedy disease +1 more	GBenign
Select item 2945869	NM_000044.6(AR):c.1768+7G>A	AR	Single nucleotide variant (intron variant)	Kennedy disease +1 more	GLikely benign
Select item 2945781	NM_000044.6(AR):c.2449+17G>A	AR	Single nucleotide variant (intron variant)	Kennedy disease +1 more	GLikely benign
Select item 2945718	NM_000044.6(AR):c.2598C>T (p.Ser866=)	AR	Single nucleotide variant (synonymous variant)	Kennedy disease +1 more	GLikely benign
Select item 2945638	NM_000044.6(AR):c.1365TGG[1] (p.Gly473del)	AR (G474del +1 more)	Microsatellite (inframe_deletion +2 more)	Kennedy disease +1 more	GLikely benign
Select item 2945531	NM_000044.6(AR):c.1768+15A>G	AR	Single nucleotide variant (intron variant)	Kennedy disease +1 more	GLikely benign
Select item 2945090	NM_000044.6(AR):c.291C>T (p.Pro97=)	AR	Single nucleotide variant (synonymous variant +1 more)	Kennedy disease +1 more	GLikely benign
Select item 2945081	NM_000044.6(AR):c.1642T>C (p.Leu548=)	AR	Single nucleotide variant (synonymous variant +1 more)	Kennedy disease +1 more	GLikely benign
Select item 2945051	NM_000044.6(AR):c.510T>C (p.Thr170=)	AR	Single nucleotide variant (synonymous variant +1 more)	Kennedy disease +1 more	GLikely benign
Select item 2944636	NM_000044.6(AR):c.2421C>T (p.Cys807=)	AR	Single nucleotide variant (synonymous variant)	Kennedy disease +1 more	GLikely benign
Select item 2944096	NM_000044.6(AR):c.2173+12G>T	AR	Single nucleotide variant (intron variant)	Kennedy disease +1 more	GLikely benign
Select item 2944042	NM_000044.6(AR):c.1503T>C (p.Asp501=)	AR	Single nucleotide variant (synonymous variant +1 more)	Kennedy disease +1 more	GLikely benign
Select item 2943857	NM_000044.6(AR):c.1413C>T (p.Gly471=)	AR	Single nucleotide variant (synonymous variant +1 more)	Kennedy disease +1 more	GLikely benign
Select item 2943819	NM_000044.6(AR):c.2592G>T (p.Leu864=)	AR	Single nucleotide variant (synonymous variant)	Kennedy disease +1 more	GLikely benign
Select item 2943756	NM_000044.6(AR):c.1885+13T>G	AR	Single nucleotide variant (intron variant)	Kennedy disease +1 more	GLikely benign
Select item 2943344	NM_000044.6(AR):c.1920A>G (p.Leu640=)	AR	Single nucleotide variant (synonymous variant)	Kennedy disease +1 more	GLikely benign
Select item 2943300	NM_000044.6(AR):c.300T>C (p.His100=)	AR	Single nucleotide variant (synonymous variant +1 more)	Kennedy disease +1 more	GLikely benign
Select item 2943262	NM_000044.6(AR):c.2289C>G (p.Leu763=)	AR	Single nucleotide variant (synonymous variant)	Kennedy disease +1 more	GLikely benign

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