23725[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 150600	GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3	ABI1, ACBD5 +376 more	Copy number gain	See cases	GLikely pathogenic
Select item 144415	GRCh38/hg38 10p12.2-12.1(chr10:24111341-25350640)x1	GPR158-AS1, KIAA1217 +35 more	Copy number loss	See cases	GPathogenic
Select item 713873	NM_020824.4(ARHGAP21):c.5858_5859del (p.Glu1953fs)	ARHGAP21 (E1796fs +4 more)	Microsatellite (frameshift variant +1 more)	not provided	GLikely benign
Select item 769365	NM_020824.4(ARHGAP21):c.5849G>C (p.Ser1950Thr)	ARHGAP21 (S1940T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2640350	NM_020824.4(ARHGAP21):c.5835T>A (p.Ser1945=)	ARHGAP21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3128605	NM_020824.4(ARHGAP21):c.5822C>G (p.Pro1941Arg)	ARHGAP21 (P1931R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128604	NM_020824.4(ARHGAP21):c.5821C>A (p.Pro1941Thr)	ARHGAP21 (P1728T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 716666	NM_020824.4(ARHGAP21):c.5785G>A (p.Val1929Met)	ARHGAP21 (V1716M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2527440	NM_020824.4(ARHGAP21):c.5780A>C (p.Gln1927Pro)	ARHGAP21 (Q1770P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290139	NM_020824.4(ARHGAP21):c.5758C>A (p.Gln1920Lys)	ARHGAP21 (Q1763K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467920	NM_020824.4(ARHGAP21):c.5744C>T (p.Pro1915Leu)	ARHGAP21 (P1915L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620758	NM_020824.4(ARHGAP21):c.5600G>A (p.Arg1867Lys)	ARHGAP21 (R1857K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462561	NM_020824.4(ARHGAP21):c.5575C>T (p.Arg1859Cys)	ARHGAP21 (R1702C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128603	NM_020824.4(ARHGAP21):c.5569C>T (p.Arg1857Cys)	ARHGAP21 (R1759C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615828	NM_020824.4(ARHGAP21):c.5567A>G (p.Glu1856Gly)	ARHGAP21 (E1643G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128602	NM_020824.4(ARHGAP21):c.5503G>T (p.Val1835Leu)	ARHGAP21 (V1678L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128601	NM_020824.4(ARHGAP21):c.5479G>A (p.Glu1827Lys)	ARHGAP21 (E1614K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311109	NM_020824.4(ARHGAP21):c.5458A>G (p.Lys1820Glu)	ARHGAP21 (K1722E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508925	NM_020824.4(ARHGAP21):c.5434G>A (p.Glu1812Lys)	ARHGAP21 (E1599K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 738427	NM_020824.4(ARHGAP21):c.5395C>A (p.Arg1799=)	ARHGAP21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3128600	NM_020824.4(ARHGAP21):c.5362G>C (p.Val1788Leu)	ARHGAP21 (V1778L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206437	NM_020824.4(ARHGAP21):c.5362G>A (p.Val1788Met)	ARHGAP21 (V1690M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 722656	NM_020824.4(ARHGAP21):c.5304G>T (p.Arg1768=)	ARHGAP21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3128599	NM_020824.4(ARHGAP21):c.5254G>A (p.Gly1752Ser)	ARHGAP21 (G1654S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2640351	NM_020824.4(ARHGAP21):c.5214A>G (p.Lys1738=)	ARHGAP21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2263551	NM_020824.4(ARHGAP21):c.5198T>C (p.Val1733Ala)	ARHGAP21 (V1733A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227343	NM_020824.4(ARHGAP21):c.5186C>T (p.Ser1729Leu)	ARHGAP21 (S1572L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2640352	NM_020824.4(ARHGAP21):c.5107C>T (p.Leu1703Phe)	ARHGAP21 (L1490F +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3128598	NM_020824.4(ARHGAP21):c.5029A>C (p.Thr1677Pro)	ARHGAP21 (T1520P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128597	NM_020824.4(ARHGAP21):c.4997G>A (p.Arg1666Gln)	ARHGAP21 (R1453Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204031	NM_020824.4(ARHGAP21):c.4962C>A (p.Phe1654Leu)	ARHGAP21 (F1644L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311113	NM_020824.4(ARHGAP21):c.4918G>A (p.Glu1640Lys)	ARHGAP21 (E1483K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546738	NM_020824.4(ARHGAP21):c.4908C>A (p.Asp1636Glu)	ARHGAP21 (D1423E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128596	NM_020824.4(ARHGAP21):c.4891C>T (p.Arg1631Trp)	ARHGAP21 (R1631W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533274	NM_020824.4(ARHGAP21):c.4875A>T (p.Glu1625Asp)	ARHGAP21 (E1412D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311119	NM_020824.4(ARHGAP21):c.4840A>G (p.Ser1614Gly)	ARHGAP21 (S1457G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314595	NM_020824.4(ARHGAP21):c.4835C>T (p.Ala1612Val)	ARHGAP21 (A1455V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128595	NM_020824.4(ARHGAP21):c.4831G>A (p.Val1611Met)	ARHGAP21 (V1398M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128594	NM_020824.4(ARHGAP21):c.4821G>C (p.Glu1607Asp)	ARHGAP21 (E1509D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128593	NM_020824.4(ARHGAP21):c.4793G>T (p.Ser1598Ile)	ARHGAP21 (S1500I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311114	NM_020824.4(ARHGAP21):c.4777G>C (p.Ala1593Pro)	ARHGAP21 (A1495P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314702	NM_020824.4(ARHGAP21):c.4655C>T (p.Thr1552Met)	ARHGAP21 (T1339M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2483369	NM_020824.4(ARHGAP21):c.4631C>G (p.Ser1544Cys)	ARHGAP21 (S1534C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311111	NM_020824.4(ARHGAP21):c.4610C>A (p.Ser1537Tyr)	ARHGAP21 (S1324Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128591	NM_020824.4(ARHGAP21):c.4459A>G (p.Lys1487Glu)	ARHGAP21 (K1274E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332741	NM_020824.4(ARHGAP21):c.4436C>A (p.Thr1479Asn)	ARHGAP21 (T1469N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601365	NM_020824.4(ARHGAP21):c.4427A>G (p.Glu1476Gly)	ARHGAP21 (E1263G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591931	NM_020824.4(ARHGAP21):c.4385G>A (p.Ser1462Asn)	ARHGAP21 (S1305N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128590	NM_020824.4(ARHGAP21):c.4321T>A (p.Phe1441Ile)	ARHGAP21 (F1284I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128589	NM_020824.4(ARHGAP21):c.4315A>G (p.Asn1439Asp)	ARHGAP21 (N1226D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128588	NM_020824.4(ARHGAP21):c.4223T>C (p.Leu1408Pro)	ARHGAP21 (L1398P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311102	NM_020824.4(ARHGAP21):c.4144G>A (p.Val1382Ile)	ARHGAP21 (V1284I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 719187	NM_020824.4(ARHGAP21):c.4134C>A (p.Ser1378=)	ARHGAP21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2540502	NM_020824.4(ARHGAP21):c.4096G>A (p.Asp1366Asn)	ARHGAP21 (D1268N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 782860	NM_020824.4(ARHGAP21):c.3787-8_3832dup	ARHGAP21	Duplication (splice acceptor variant)	not provided	GBenign
Select item 2240914	NM_020824.4(ARHGAP21):c.3743G>A (p.Arg1248His)	ARHGAP21 (R1091H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218655	NM_020824.4(ARHGAP21):c.3740A>G (p.Asn1247Ser)	ARHGAP21 (N1149S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 782861	NM_020824.4(ARHGAP21):c.3621T>C (p.Asp1207=)	ARHGAP21	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 725284	NM_020824.4(ARHGAP21):c.3495T>A (p.Val1165=)	ARHGAP21	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 402147	NM_020824.4(ARHGAP21):c.3491T>G (p.Ile1164Arg)	ARHGAP21 (I1164R +4 more)	Single nucleotide variant (missense variant +1 more)	Abnormal brain morphology	GLikely pathogenic
Select item 2270607	NM_020824.4(ARHGAP21):c.3481A>G (p.Ile1161Val)	ARHGAP21 (I1063V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2640353	NM_020824.4(ARHGAP21):c.3438C>T (p.Gly1146=)	ARHGAP21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 789029	NM_020824.4(ARHGAP21):c.3361G>A (p.Gly1121Ser)	ARHGAP21 (G908S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3128586	NM_020824.4(ARHGAP21):c.3352A>G (p.Lys1118Glu)	ARHGAP21 (K961E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601507	NM_020824.4(ARHGAP21):c.3255G>T (p.Leu1085Phe)	ARHGAP21 (L1075F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128585	NM_020824.4(ARHGAP21):c.3239G>A (p.Ser1080Asn)	ARHGAP21 (S1080N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322124	NM_020824.4(ARHGAP21):c.3116G>A (p.Ser1039Asn)	ARHGAP21 (S1039N +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2512556	NM_020824.4(ARHGAP21):c.3101C>T (p.Thr1034Met)	ARHGAP21 (T1024M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 738428	NM_020824.4(ARHGAP21):c.3047G>C (p.Cys1016Ser)	ARHGAP21 (C1006S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3128584	NM_020824.4(ARHGAP21):c.3013A>T (p.Arg1005Trp)	ARHGAP21 (R907W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227945	NM_020824.4(ARHGAP21):c.2945C>T (p.Pro982Leu)	ARHGAP21 (P769L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128583	NM_020824.4(ARHGAP21):c.2927A>C (p.Lys976Thr)	ARHGAP21 (K966T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223384	NM_020824.4(ARHGAP21):c.2899G>A (p.Gly967Ser)	ARHGAP21 (G967S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128582	NM_020824.4(ARHGAP21):c.2867G>A (p.Arg956Gln)	ARHGAP21 (R743Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306105	NM_020824.4(ARHGAP21):c.2845A>G (p.Lys949Glu)	ARHGAP21 (K736E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128581	NM_020824.4(ARHGAP21):c.2822G>A (p.Arg941Gln)	ARHGAP21 (R728Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541002	NM_020824.4(ARHGAP21):c.2776T>A (p.Ser926Thr)	ARHGAP21 (S769T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261848	NM_020824.4(ARHGAP21):c.2756G>T (p.Gly919Val)	ARHGAP21 (G762V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530498	NM_020824.4(ARHGAP21):c.2741C>T (p.Ser914Leu)	ARHGAP21 (S904L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128580	NM_020824.4(ARHGAP21):c.2698G>C (p.Val900Leu)	ARHGAP21 (V900L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518641	NM_020824.4(ARHGAP21):c.2698G>A (p.Val900Ile)	ARHGAP21 (V687I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128579	NM_020824.4(ARHGAP21):c.2615C>T (p.Pro872Leu)	ARHGAP21 (P659L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399361	NM_020824.4(ARHGAP21):c.2593C>T (p.Pro865Ser)	ARHGAP21 (P652S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408291	NM_020824.4(ARHGAP21):c.2558G>A (p.Arg853His)	ARHGAP21 (R640H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264375	NM_020824.4(ARHGAP21):c.2431A>G (p.Thr811Ala)	ARHGAP21 (T811A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2640354	NM_020824.4(ARHGAP21):c.2343C>T (p.Val781=)	ARHGAP21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3128578	NM_020824.4(ARHGAP21):c.2332C>T (p.Arg778Cys)	ARHGAP21 (R778C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2640355	NM_020824.4(ARHGAP21):c.2310C>T (p.Thr770=)	ARHGAP21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 720139	NM_020824.4(ARHGAP21):c.2296G>A (p.Gly766Arg)	ARHGAP21 (G609R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 709565	NM_020824.4(ARHGAP21):c.2295C>T (p.Thr765=)	ARHGAP21	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 745866	NM_020824.4(ARHGAP21):c.2156A>G (p.Gln719Arg)	ARHGAP21 (Q562R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2333431	NM_020824.4(ARHGAP21):c.2146T>A (p.Leu716Ile)	ARHGAP21 (L559I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520253	NM_020824.4(ARHGAP21):c.2087C>T (p.Ser696Leu)	ARHGAP21 (S483L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604047	NM_020824.4(ARHGAP21):c.2077G>T (p.Ala693Ser)	ARHGAP21 (A536S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 770589	NM_020824.4(ARHGAP21):c.2051C>G (p.Ser684Cys)	ARHGAP21 (S471C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2257246	NM_020824.4(ARHGAP21):c.2003G>A (p.Arg668Lys)	ARHGAP21 (R668K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 750268	NM_020824.4(ARHGAP21):c.1944C>T (p.Asp648=)	ARHGAP21	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2243244	NM_020824.4(ARHGAP21):c.1894C>T (p.His632Tyr)	ARHGAP21 (H534Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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