ClinVar for Gene (Select 9743) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3352891	NM_001378024.1(ARHGAP32):c.1299-7A>G	ARHGAP32	Single nucleotide variant (intron variant)	ARHGAP32-related disorder	GLikely benign
Select item 3348685	NM_001378024.1(ARHGAP32):c.4286C>G (p.Pro1429Arg)	ARHGAP32 (P1066R +3 more)	Single nucleotide variant (missense variant)	ARHGAP32-related disorder	GUncertain significance
Select item 3345443	NM_001378024.1(ARHGAP32):c.116G>C (p.Arg39Thr)	ARHGAP32 (R39T)	Single nucleotide variant (missense variant +1 more)	ARHGAP32-related disorder	GUncertain significance
Select item 3311964	NM_001378024.1(ARHGAP32):c.5768A>G (p.Lys1923Arg)	ARHGAP32 (K1869R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311953	NM_001378024.1(ARHGAP32):c.3784C>G (p.Pro1262Ala)	ARHGAP32 (P899A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311942	NM_001378024.1(ARHGAP32):c.4835C>T (p.Pro1612Leu)	ARHGAP32 (P1249L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311931	NM_001378024.1(ARHGAP32):c.2075A>G (p.Gln692Arg)	ARHGAP32 (Q638R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311921	NM_001378024.1(ARHGAP32):c.3094C>T (p.Pro1032Ser)	ARHGAP32 (P1018S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311914	NM_001378024.1(ARHGAP32):c.4671C>A (p.Asn1557Lys)	ARHGAP32 (N1543K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311903	NM_001378024.1(ARHGAP32):c.4913A>C (p.Gln1638Pro)	ARHGAP32 (Q1638P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311895	NM_001378024.1(ARHGAP32):c.3721C>T (p.Pro1241Ser)	ARHGAP32 (P1227S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311884	NM_001378024.1(ARHGAP32):c.808A>G (p.Ile270Val)	ARHGAP32 (I216V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311876	NM_001378024.1(ARHGAP32):c.5908C>T (p.Pro1970Ser)	ARHGAP32 (P1956S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311865	NM_001378024.1(ARHGAP32):c.1555T>G (p.Ser519Ala)	ARHGAP32 (S156A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311856	NM_001378024.1(ARHGAP32):c.6299C>T (p.Ala2100Val)	ARHGAP32 (A1737V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311845	NM_001378024.1(ARHGAP32):c.572G>A (p.Arg191Gln)	ARHGAP32 (R177Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311824	NM_001378024.1(ARHGAP32):c.6119T>C (p.Leu2040Pro)	ARHGAP32 (L1986P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 3128778	NM_001378024.1(ARHGAP32):c.6239G>A (p.Gly2080Asp)	ARHGAP32 (G2026D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128777	NM_001378024.1(ARHGAP32):c.6127T>G (p.Tyr2043Asp)	ARHGAP32 (Y1680D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128776	NM_001378024.1(ARHGAP32):c.6059A>T (p.Gln2020Leu)	ARHGAP32 (Q2020L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128775	NM_001378024.1(ARHGAP32):c.5898G>T (p.Trp1966Cys)	ARHGAP32 (W1952C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128774	NM_001378024.1(ARHGAP32):c.5483A>G (p.His1828Arg)	ARHGAP32 (H1814R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128773	NM_001378024.1(ARHGAP32):c.5309G>A (p.Arg1770Gln)	ARHGAP32 (R1407Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128772	NM_001378024.1(ARHGAP32):c.4756G>A (p.Glu1586Lys)	ARHGAP32 (E1223K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128771	NM_001378024.1(ARHGAP32):c.4586A>C (p.Glu1529Ala)	ARHGAP32 (E1166A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128770	NM_001378024.1(ARHGAP32):c.4526A>G (p.Asn1509Ser)	ARHGAP32 (N1509S +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3128769	NM_001378024.1(ARHGAP32):c.4466C>G (p.Ser1489Cys)	ARHGAP32 (S1435C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128768	NM_001378024.1(ARHGAP32):c.4253C>T (p.Ala1418Val)	ARHGAP32 (A1055V +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3128767	NM_001378024.1(ARHGAP32):c.4103T>C (p.Met1368Thr)	ARHGAP32 (M1314T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128766	NM_001378024.1(ARHGAP32):c.3961C>A (p.Pro1321Thr)	ARHGAP32 (P958T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128765	NM_001378024.1(ARHGAP32):c.3347G>A (p.Arg1116Gln)	ARHGAP32 (R1116Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128764	NM_001378024.1(ARHGAP32):c.3085C>T (p.His1029Tyr)	ARHGAP32 (H1029Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128763	NM_001378024.1(ARHGAP32):c.2903C>A (p.Thr968Asn)	ARHGAP32 (T914N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128762	NM_001378024.1(ARHGAP32):c.2755A>G (p.Met919Val)	ARHGAP32 (M556V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128761	NM_001378024.1(ARHGAP32):c.268C>G (p.Leu90Val)	ARHGAP32 (L50V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128760	NM_001378024.1(ARHGAP32):c.2594G>A (p.Ser865Asn)	ARHGAP32 (S811N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128759	NM_001378024.1(ARHGAP32):c.2461G>T (p.Ala821Ser)	ARHGAP32 (A767S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128758	NM_001378024.1(ARHGAP32):c.1885A>G (p.Ile629Val)	ARHGAP32 (I266V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128757	NM_001378024.1(ARHGAP32):c.1759A>G (p.Met587Val)	ARHGAP32 (M573V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128756	NM_001378024.1(ARHGAP32):c.1715T>G (p.Phe572Cys)	ARHGAP32 (F518C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128755	NM_001378024.1(ARHGAP32):c.1569C>G (p.Asp523Glu)	ARHGAP32 (D509E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128754	NM_001378024.1(ARHGAP32):c.112T>C (p.Phe38Leu)	ARHGAP32 (F38L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063218	GRCh37/hg19 11q24.1-25(chr11:123523103-134938470)x1	ACAD8, ACRV1 +92 more	Copy number loss	not specified	GPathogenic
Select item 3063194	GRCh37/hg19 11q24.1-25(chr11:121423232-134938470)x1	ACAD8, ACRV1 +104 more	Copy number loss	not specified	GPathogenic
Select item 3063192	GRCh37/hg19 11q24.2-25(chr11:125511834-134938470)x1	ACAD8, ACRV1 +49 more	Copy number loss	not specified	GPathogenic
Select item 3060955	NM_001378024.1(ARHGAP32):c.5703G>A (p.Gln1901=)	ARHGAP32	Single nucleotide variant (synonymous variant)	ARHGAP32-related disorder	GBenign
Select item 3060336	NM_001378024.1(ARHGAP32):c.3528A>G (p.Glu1176=)	ARHGAP32	Single nucleotide variant (synonymous variant)	ARHGAP32-related disorder	GBenign
Select item 3060092	NM_001378024.1(ARHGAP32):c.5982C>A (p.Pro1994=)	ARHGAP32	Single nucleotide variant (synonymous variant)	ARHGAP32-related disorder	GLikely benign
Select item 3056166	NM_001378024.1(ARHGAP32):c.2688C>T (p.Ser896=)	ARHGAP32	Single nucleotide variant (synonymous variant)	ARHGAP32-related disorder	GBenign
Select item 3055563	NM_001378024.1(ARHGAP32):c.5952A>G (p.Glu1984=)	ARHGAP32	Single nucleotide variant (synonymous variant)	ARHGAP32-related disorder	GBenign
Select item 3055497	NM_001378024.1(ARHGAP32):c.3270G>A (p.Ala1090=)	ARHGAP32	Single nucleotide variant (synonymous variant)	ARHGAP32-related disorder	GLikely benign
Select item 3055483	NM_001378024.1(ARHGAP32):c.5582G>C (p.Ser1861Thr)	ARHGAP32 (S1498T +3 more)	Single nucleotide variant (missense variant)	ARHGAP32-related disorder	GBenign
Select item 3050666	NM_001378024.1(ARHGAP32):c.4812G>A (p.Pro1604=)	ARHGAP32	Single nucleotide variant (synonymous variant)	ARHGAP32-related disorder	GLikely benign
Select item 3050513	NM_001378024.1(ARHGAP32):c.3659G>A (p.Arg1220His)	ARHGAP32 (R1166H +3 more)	Single nucleotide variant (missense variant)	ARHGAP32-related disorder	GLikely benign
Select item 3049136	NM_001378024.1(ARHGAP32):c.5082C>T (p.Pro1694=)	ARHGAP32	Single nucleotide variant (synonymous variant)	ARHGAP32-related disorder	GLikely benign
Select item 3048311	NM_001378024.1(ARHGAP32):c.4206C>T (p.Asp1402=)	ARHGAP32	Single nucleotide variant (synonymous variant)	ARHGAP32-related disorder	GLikely benign
Select item 3046261	NM_001378024.1(ARHGAP32):c.1098T>C (p.Ser366=)	ARHGAP32	Single nucleotide variant (synonymous variant)	ARHGAP32-related disorder	GLikely benign
Select item 3045470	NM_001378024.1(ARHGAP32):c.445-5T>C	ARHGAP32	Single nucleotide variant (intron variant)	ARHGAP32-related disorder	GLikely benign
Select item 3042220	NM_001378024.1(ARHGAP32):c.6172G>A (p.Gly2058Ser)	ARHGAP32 (G1695S +3 more)	Single nucleotide variant (missense variant)	ARHGAP32-related disorder	GLikely benign
Select item 3041632	NM_001378024.1(ARHGAP32):c.5832C>T (p.Ser1944=)	ARHGAP32	Single nucleotide variant (synonymous variant)	ARHGAP32-related disorder	GLikely benign
Select item 3040465	NM_001378024.1(ARHGAP32):c.2124T>C (p.Gly708=)	ARHGAP32	Single nucleotide variant (synonymous variant)	ARHGAP32-related disorder	GLikely benign
Select item 3040120	NM_001378024.1(ARHGAP32):c.1299C>T (p.Arg433=)	ARHGAP32	Single nucleotide variant (synonymous variant)	ARHGAP32-related disorder	GLikely benign
Select item 3038549	NM_001378024.1(ARHGAP32):c.5451T>C (p.Leu1817=)	ARHGAP32	Single nucleotide variant (synonymous variant)	ARHGAP32-related disorder	GBenign
Select item 3035326	NM_001378024.1(ARHGAP32):c.220G>A (p.Ala74Thr)	ARHGAP32 (A34T +1 more)	Single nucleotide variant (missense variant)	ARHGAP32-related disorder	GBenign
Select item 2684659	GRCh37/hg19 11q24.3(chr11:128577471-128867773)x3	ARHGAP32, FLI1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2642542	NM_001378024.1(ARHGAP32):c.744C>T (p.Pro248=)	ARHGAP32	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642541	NM_001378024.1(ARHGAP32):c.1788A>G (p.Leu596=)	ARHGAP32	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2642540	NM_001378024.1(ARHGAP32):c.6300A>G (p.Ala2100=)	ARHGAP32	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2631713	NM_001378024.1(ARHGAP32):c.6248C>T (p.Ala2083Val)	ARHGAP32 (A1720V +3 more)	Single nucleotide variant (missense variant)	ARHGAP32-related disorder	GUncertain significance
Select item 2630291	NM_001378024.1(ARHGAP32):c.4484T>A (p.Val1495Asp)	ARHGAP32 (V1132D +3 more)	Single nucleotide variant (missense variant)	ARHGAP32-related disorder	GUncertain significance
Select item 2621415	NM_001378024.1(ARHGAP32):c.4309A>G (p.Met1437Val)	ARHGAP32 (M1074V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619561	NM_001378024.1(ARHGAP32):c.5039C>T (p.Ala1680Val)	ARHGAP32 (A1680V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614905	NM_001378024.1(ARHGAP32):c.4115C>T (p.Ala1372Val)	ARHGAP32 (A1009V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604828	NM_001378024.1(ARHGAP32):c.1965C>A (p.Phe655Leu)	ARHGAP32 (F601L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603563	NM_001378024.1(ARHGAP32):c.5021A>G (p.Tyr1674Cys)	ARHGAP32 (Y1311C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599156	NM_001378024.1(ARHGAP32):c.3665A>G (p.Tyr1222Cys)	ARHGAP32 (Y1208C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594368	NM_001378024.1(ARHGAP32):c.982C>T (p.His328Tyr)	ARHGAP32 (H314Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593485	NM_001378024.1(ARHGAP32):c.1892C>T (p.Thr631Met)	ARHGAP32 (T577M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555560	NM_001378024.1(ARHGAP32):c.1861A>T (p.Thr621Ser)	ARHGAP32 (T607S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553369	NM_001378024.1(ARHGAP32):c.2795G>A (p.Arg932Gln)	ARHGAP32 (R878Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545508	NM_001378024.1(ARHGAP32):c.6110A>G (p.Tyr2037Cys)	ARHGAP32 (Y1674C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530558	NM_001378024.1(ARHGAP32):c.4250C>T (p.Pro1417Leu)	ARHGAP32 (P1403L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528082	NM_001378024.1(ARHGAP32):c.4883C>T (p.Pro1628Leu)	ARHGAP32 (P1265L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527310	NM_001378024.1(ARHGAP32):c.908T>C (p.Ile303Thr)	ARHGAP32 (I249T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524304	NM_001378024.1(ARHGAP32):c.3970C>T (p.Pro1324Ser)	ARHGAP32 (P1310S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511860	NM_001378024.1(ARHGAP32):c.5378C>T (p.Ala1793Val)	ARHGAP32 (A1779V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506544	GRCh37/hg19 11q23.3-25(chr11:120531028-134257553)	JHY, RPUSD4 +107 more	Copy number loss	11q partial monosomy syndrome	GPathogenic
Select item 2494338	NM_001378024.1(ARHGAP32):c.3221A>G (p.Lys1074Arg)	ARHGAP32 (K1060R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489107	NM_001378024.1(ARHGAP32):c.85T>A (p.Cys29Ser)	ARHGAP32 (C29S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2476867	NM_001378024.1(ARHGAP32):c.5090G>A (p.Arg1697His)	ARHGAP32 (R1334H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464415	NM_001378024.1(ARHGAP32):c.1695T>G (p.Ile565Met)	ARHGAP32 (I511M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462448	NM_001378024.1(ARHGAP32):c.3779A>G (p.Tyr1260Cys)	ARHGAP32 (Y1206C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460227	NM_001378024.1(ARHGAP32):c.5234C>T (p.Pro1745Leu)	ARHGAP32 (P1691L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458829	NM_001378024.1(ARHGAP32):c.5209G>A (p.Asp1737Asn)	ARHGAP32 (D1737N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411364	NM_001378024.1(ARHGAP32):c.3116G>A (p.Ser1039Asn)	ARHGAP32 (S1039N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406055	NM_001378024.1(ARHGAP32):c.5974G>A (p.Val1992Ile)	ARHGAP32 (V1938I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404796	NM_001378024.1(ARHGAP32):c.2760C>A (p.Ser920Arg)	ARHGAP32 (S557R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404464	NM_001378024.1(ARHGAP32):c.4214G>A (p.Arg1405Gln)	ARHGAP32 (R1042Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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