RASIP1[gene] - ClinVar

Search results

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 146386	GRCh38/hg38 19q13.33(chr19:48577651-48839042)x3	BCAT2, CA11 +45 more	Copy number gain	See cases	GUncertain significance
Select item 2285030	NM_017805.3(RASIP1):c.2872C>T (p.Pro958Ser)	LOC117125599, RASIP1 (P958S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367017	NM_017805.3(RASIP1):c.2842G>A (p.Glu948Lys)	LOC117125599, RASIP1 (E948K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265445	NM_017805.3(RASIP1):c.2840A>G (p.Gln947Arg)	LOC117125599, RASIP1 (Q947R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265573	NM_017805.3(RASIP1):c.2833G>A (p.Glu945Lys)	LOC117125599, RASIP1 (E945K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044744	NM_017805.3(RASIP1):c.2827G>A (p.Asp943Asn)	LOC117125599, RASIP1 (D943N)	Single nucleotide variant (missense variant)	RASIP1-related disorder	GLikely benign
Select item 2301861	NM_017805.3(RASIP1):c.2813G>A (p.Arg938His)	LOC117125599, RASIP1 (R938H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312952	NM_017805.3(RASIP1):c.2806A>G (p.Arg936Gly)	LOC117125599, RASIP1 (R936G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542295	NM_017805.3(RASIP1):c.2793C>A (p.His931Gln)	LOC117125599, RASIP1 (H931Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403184	NM_017805.3(RASIP1):c.2783A>G (p.Asp928Gly)	LOC117125599, RASIP1 (D928G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151896	NM_017805.3(RASIP1):c.2695G>A (p.Asp899Asn)	LOC117125599, RASIP1 (D899N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470798	NM_017805.3(RASIP1):c.2683G>A (p.Val895Met)	RASIP1 (V895M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245240	NM_017805.3(RASIP1):c.2636G>T (p.Arg879Leu)	RASIP1 (R879L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3151894	NM_017805.3(RASIP1):c.2621A>G (p.Gln874Arg)	RASIP1 (Q874R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386118	NM_017805.3(RASIP1):c.2596C>A (p.Leu866Met)	RASIP1 (L866M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477716	NM_017805.3(RASIP1):c.2590G>A (p.Ala864Thr)	RASIP1 (A864T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043743	NM_017805.3(RASIP1):c.2527C>T (p.Arg843Cys)	RASIP1 (R843C)	Single nucleotide variant (missense variant)	RASIP1-related disorder	GLikely benign
Select item 3151893	NM_017805.3(RASIP1):c.2521G>A (p.Val841Met)	RASIP1 (V841M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606258	NM_017805.3(RASIP1):c.2507T>C (p.Val836Ala)	RASIP1 (V836A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383634	NM_017805.3(RASIP1):c.2434G>A (p.Val812Ile)	RASIP1 (V812I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589327	NM_017805.3(RASIP1):c.2431C>T (p.Leu811Phe)	RASIP1 (L811F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312954	NM_017805.3(RASIP1):c.2383C>A (p.Pro795Thr)	RASIP1 (P795T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598166	NM_017805.3(RASIP1):c.2380C>T (p.Arg794Trp)	RASIP1 (R794W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226472	NM_017805.3(RASIP1):c.2367A>T (p.Glu789Asp)	RASIP1 (E789D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296537	NM_017805.3(RASIP1):c.2249T>C (p.Val750Ala)	RASIP1 (V750A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342503	NM_017805.3(RASIP1):c.2227G>A (p.Gly743Arg)	RASIP1 (G743R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288774	NM_017805.3(RASIP1):c.2204C>T (p.Ala735Val)	RASIP1 (A735V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591137	NM_017805.3(RASIP1):c.2203G>A (p.Ala735Thr)	RASIP1 (A735T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151891	NM_017805.3(RASIP1):c.2194G>C (p.Gly732Arg)	RASIP1 (G732R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151890	NM_017805.3(RASIP1):c.2179G>T (p.Gly727Cys)	RASIP1 (G727C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151889	NM_017805.3(RASIP1):c.2174C>T (p.Thr725Ile)	RASIP1 (T725I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362716	NM_017805.3(RASIP1):c.2141C>G (p.Thr714Arg)	RASIP1 (T714R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382584	NM_017805.3(RASIP1):c.1931G>A (p.Arg644Gln)	RASIP1 (R644Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151887	NM_017805.3(RASIP1):c.1930C>T (p.Arg644Trp)	RASIP1 (R644W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151886	NM_017805.3(RASIP1):c.1915G>A (p.Val639Met)	RASIP1 (V639M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352688	NM_017805.3(RASIP1):c.1913C>T (p.Ala638Val)	RASIP1 (A638V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466798	NM_017805.3(RASIP1):c.1859G>A (p.Arg620His)	RASIP1 (R620H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591578	NM_017805.3(RASIP1):c.1778G>A (p.Gly593Asp)	RASIP1 (G593D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518470	NM_017805.3(RASIP1):c.1751A>G (p.Gln584Arg)	RASIP1 (Q584R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650219	NM_017805.3(RASIP1):c.1686C>T (p.Ala562=)	RASIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3312956	NM_017805.3(RASIP1):c.1663C>G (p.Leu555Val)	RASIP1 (L555V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650220	NM_017805.3(RASIP1):c.1650C>A (p.Arg550=)	RASIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2226314	NM_017805.3(RASIP1):c.1637G>C (p.Arg546Pro)	RASIP1 (R546P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318408	NM_017805.3(RASIP1):c.1574G>A (p.Arg525His)	RASIP1 (R525H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151885	NM_017805.3(RASIP1):c.1562G>A (p.Arg521His)	RASIP1 (R521H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323271	NM_017805.3(RASIP1):c.1444C>G (p.His482Asp)	RASIP1 (H482D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464699	NM_017805.3(RASIP1):c.1340C>T (p.Pro447Leu)	RASIP1 (P447L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151882	NM_017805.3(RASIP1):c.1324G>A (p.Ala442Thr)	RASIP1 (A442T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386491	NM_017805.3(RASIP1):c.1268A>G (p.Tyr423Cys)	RASIP1 (Y423C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554881	NM_017805.3(RASIP1):c.1262C>A (p.Ala421Asp)	RASIP1 (A421D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353278	NM_017805.3(RASIP1):c.1241C>T (p.Ser414Phe)	RASIP1 (S414F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476888	NM_017805.3(RASIP1):c.1217T>C (p.Val406Ala)	RASIP1 (V406A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151881	NM_017805.3(RASIP1):c.1215C>A (p.His405Gln)	RASIP1 (H405Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601581	NM_017805.3(RASIP1):c.1201A>C (p.Thr401Pro)	RASIP1 (T401P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311723	NM_017805.3(RASIP1):c.1196T>G (p.Val399Gly)	RASIP1 (V399G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338313	NM_017805.3(RASIP1):c.1138C>A (p.Arg380Ser)	RASIP1 (R380S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488871	NM_017805.3(RASIP1):c.1031A>C (p.Gln344Pro)	RASIP1 (Q344P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341673	NM_017805.3(RASIP1):c.938G>T (p.Gly313Val)	RASIP1 (G313V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2527529	NM_017805.3(RASIP1):c.905C>T (p.Pro302Leu)	RASIP1 (P302L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312957	NM_017805.3(RASIP1):c.865C>G (p.Arg289Gly)	RASIP1 (R289G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151898	NM_017805.3(RASIP1):c.860G>A (p.Arg287His)	RASIP1 (R287H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238911	NM_017805.3(RASIP1):c.816C>G (p.Asp272Glu)	RASIP1 (D272E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312953	NM_017805.3(RASIP1):c.797A>C (p.Glu266Ala)	RASIP1 (E266A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650221	NM_017805.3(RASIP1):c.774G>A (p.Glu258=)	RASIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2391285	NM_017805.3(RASIP1):c.764G>A (p.Arg255His)	RASIP1 (R255H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549174	NM_017805.3(RASIP1):c.644G>C (p.Gly215Ala)	RASIP1 (G215A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151897	NM_017805.3(RASIP1):c.629G>T (p.Arg210Leu)	RASIP1 (R210L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406930	NM_017805.3(RASIP1):c.577C>T (p.Pro193Ser)	RASIP1 (P193S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474416	NM_017805.3(RASIP1):c.506G>A (p.Arg169His)	RASIP1 (R169H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478600	NM_017805.3(RASIP1):c.425C>A (p.Thr142Lys)	RASIP1 (T142K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377616	NM_017805.3(RASIP1):c.397C>G (p.Pro133Ala)	RASIP1 (P133A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479634	NM_017805.3(RASIP1):c.395C>A (p.Ala132Asp)	RASIP1 (A132D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462381	NM_017805.3(RASIP1):c.308C>T (p.Ser103Phe)	RASIP1 (S103F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151892	NM_017805.3(RASIP1):c.220G>C (p.Ala74Pro)	RASIP1 (A74P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151888	NM_017805.3(RASIP1):c.205C>G (p.Leu69Val)	RASIP1 (L69V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541060	NM_017805.3(RASIP1):c.113G>A (p.Arg38His)	RASIP1 (R38H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 980767	GRCh37/hg19 19q13.33(chr19:48854319-49430535)x3	BCAT2, CA11 +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 688109	GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3	HSD17B14, IZUMO1 +58 more	Copy number gain	not provided	GUncertain significance
Select item 564585	GRCh37/hg19 19q13.33(chr19:49169554-49388064)x3	IZUMO1, FUT2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 88