27414[HGNC] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 639872	NC_000001.10:g.(?_160786670)_(161332233_?)dup	LOC129931764, LY9 +63 more	Duplication	Paragangliomas 3 +1 more	GUncertain significance
Select item 57815	GRCh38/hg38 1q23.3(chr1:160866658-161315114)x3	ADAMTS4, APOA2 +58 more	Copy number gain	See cases	GUncertain significance
Select item 2343615	NM_001025598.2(ARHGAP30):c.3250C>T (p.Arg1084Cys)	ARHGAP30 (R1084C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362766	NM_001025598.2(ARHGAP30):c.3217C>A (p.Pro1073Thr)	ARHGAP30 (P1073T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128742	NM_001025598.2(ARHGAP30):c.3187C>T (p.Arg1063Trp)	ARHGAP30 (R1063W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205787	NM_001025598.2(ARHGAP30):c.3175G>A (p.Gly1059Arg)	ARHGAP30 (G882R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385013	NM_001025598.2(ARHGAP30):c.3134G>A (p.Arg1045Gln)	ARHGAP30 (R834Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282064	NM_001025598.2(ARHGAP30):c.3122C>T (p.Ala1041Val)	ARHGAP30 (A830V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128741	NM_001025598.2(ARHGAP30):c.3041G>A (p.Gly1014Glu)	ARHGAP30 (G1014E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618194	NM_001025598.2(ARHGAP30):c.2934G>C (p.Arg978Ser)	ARHGAP30 (R767S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558500	NM_001025598.2(ARHGAP30):c.2908C>T (p.Arg970Trp)	ARHGAP30 (R970W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311379	NM_001025598.2(ARHGAP30):c.2843A>G (p.Lys948Arg)	ARHGAP30 (K948R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600357	NM_001025598.2(ARHGAP30):c.2804G>A (p.Arg935His)	ARHGAP30 (R724H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611303	NM_001025598.2(ARHGAP30):c.2768G>A (p.Arg923His)	ARHGAP30 (R746H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128740	NM_001025598.2(ARHGAP30):c.2737T>A (p.Cys913Ser)	ARHGAP30 (C702S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317093	NM_001025598.2(ARHGAP30):c.2725T>C (p.Cys909Arg)	ARHGAP30 (C698R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377265	NM_001025598.2(ARHGAP30):c.2711C>G (p.Pro904Arg)	ARHGAP30 (P693R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128739	NM_001025598.2(ARHGAP30):c.2653A>T (p.Met885Leu)	ARHGAP30 (M737L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128738	NM_001025598.2(ARHGAP30):c.2621G>A (p.Cys874Tyr)	ARHGAP30 (C697Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128737	NM_001025598.2(ARHGAP30):c.2615T>G (p.Val872Gly)	ARHGAP30 (V724G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373820	NM_001025598.2(ARHGAP30):c.2512C>T (p.Arg838Trp)	ARHGAP30 (R838W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477277	NM_001025598.2(ARHGAP30):c.2492C>T (p.Ala831Val)	ARHGAP30 (A654V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208918	NM_001025598.2(ARHGAP30):c.2437G>A (p.Asp813Asn)	ARHGAP30 (D665N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392919	NM_001025598.2(ARHGAP30):c.2419T>C (p.Tyr807His)	ARHGAP30 (Y659H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128736	NM_001025598.2(ARHGAP30):c.2249T>C (p.Ile750Thr)	ARHGAP30 (I602T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2386351	NM_001025598.2(ARHGAP30):c.2207A>C (p.Glu736Ala)	ARHGAP30 (E559A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293547	NM_001025598.2(ARHGAP30):c.2176G>A (p.Ala726Thr)	ARHGAP30 (A549T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128735	NM_001025598.2(ARHGAP30):c.2010C>G (p.Asp670Glu)	ARHGAP30 (D493E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639506	NM_001025598.2(ARHGAP30):c.1860G>A (p.Leu620=)	ARHGAP30	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3128734	NM_001025598.2(ARHGAP30):c.1856T>C (p.Leu619Pro)	ARHGAP30 (L442P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128733	NM_001025598.2(ARHGAP30):c.1819G>A (p.Glu607Lys)	ARHGAP30 (E607K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459862	NM_001025598.2(ARHGAP30):c.1780G>A (p.Ala594Thr)	ARHGAP30 (A417T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397986	NM_001025598.2(ARHGAP30):c.1676T>G (p.Val559Gly)	ARHGAP30 (V382G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128732	NM_001025598.2(ARHGAP30):c.1664A>C (p.Glu555Ala)	ARHGAP30 (E378A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384686	NM_001025598.2(ARHGAP30):c.1477G>A (p.Asp493Asn)	ARHGAP30 (D493N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128731	NM_001025598.2(ARHGAP30):c.1453C>A (p.Pro485Thr)	ARHGAP30 (P308T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128730	NM_001025598.2(ARHGAP30):c.1428G>T (p.Lys476Asn)	ARHGAP30 (K299N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128729	NM_001025598.2(ARHGAP30):c.1403T>C (p.Leu468Pro)	ARHGAP30 (L320P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128728	NM_001025598.2(ARHGAP30):c.1363C>T (p.Arg455Trp)	ARHGAP30 (R455W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243194	NM_001025598.2(ARHGAP30):c.1334G>A (p.Arg445His)	ARHGAP30 (R268H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258894	NM_001025598.2(ARHGAP30):c.1219T>C (p.Cys407Arg)	ARHGAP30 (C230R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128727	NM_001025598.2(ARHGAP30):c.1076G>A (p.Ser359Asn)	ARHGAP30 (S182N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383202	NM_001025598.2(ARHGAP30):c.1059C>G (p.Ser353Arg)	ARHGAP30 (S176R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368927	NM_001025598.2(ARHGAP30):c.1052G>A (p.Arg351Gln)	ARHGAP30 (R174Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128726	NM_001025598.2(ARHGAP30):c.1045A>G (p.Ser349Gly)	ARHGAP30 (S349G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548840	NM_001025598.2(ARHGAP30):c.886G>C (p.Gly296Arg)	ARHGAP30 (G296R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592729	NM_001025598.2(ARHGAP30):c.768A>G (p.Ile256Met)	ARHGAP30 (I256M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528565	NM_001025598.2(ARHGAP30):c.709G>A (p.Ala237Thr)	ARHGAP30 (A60T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549113	NM_001025598.2(ARHGAP30):c.707G>A (p.Arg236Gln)	ARHGAP30 (R59Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128743	NM_001025598.2(ARHGAP30):c.692C>T (p.Ser231Leu)	ARHGAP30 (S83L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314444	NM_001025598.2(ARHGAP30):c.683G>C (p.Gly228Ala)	ARHGAP30 (G80A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207989	NM_001025598.2(ARHGAP30):c.622C>T (p.Leu208Phe)	ARHGAP30 (L208F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227349	NM_001025598.2(ARHGAP30):c.236G>A (p.Arg79His)	ARHGAP30 (R79H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533727	NM_001025598.2(ARHGAP30):c.221G>A (p.Arg74Gln)	ARHGAP30 (R74Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546888	NM_001025598.2(ARHGAP30):c.94G>A (p.Glu32Lys)	ARHGAP30 (E32K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2411428	NM_001025598.2(ARHGAP30):c.37G>A (p.Ala13Thr)	ARHGAP30 (A13T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 1809367	GRCh37/hg19 1q23.3(chr1:160778879-161190622)x3	ADAMTS4, ARHGAP30 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1527326	GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042)	ADAMTS4, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1411942	NC_000001.10:g.(?_158581054)_(162750036_?)dup	TAGLN2, TOMM40L +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1341040	GRCh37/hg19 1q23.3(chr1:160859558-161409185)x3	ADAMTS4, APOA2 +22 more	Copy number gain	not provided	GLikely pathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ATP8B2, AVPR1B +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 830661	NC_000001.11:g.(?_160816880)_(161362518_?)dup	APOA2, ARHGAP30 +24 more	Duplication	Paragangliomas 3 +1 more	GUncertain significance
Select item 814133	GRCh37/hg19 1q23.3(chr1:160977795-161189147)x3	KLHDC9, PFDN2 +14 more	Copy number gain	not provided	GUncertain significance
Select item 688334	GRCh37/hg19 1q23.3(chr1:160744174-162583871)x3	ADAMTS4, APOA2 +42 more	Copy number gain	not provided	GUncertain significance
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic

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Items: 72