Related gene-specific medical variations for Gene (Select 60561) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314493	NM_021930.6(RINT1):c.2198C>T (p.Ala733Val)	EFCAB10, RINT1 (A655V +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3314489	NM_021930.6(RINT1):c.2339T>G (p.Leu780Arg)	EFCAB10, RINT1 (L702R +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3314487	NM_021930.6(RINT1):c.2100A>G (p.Gly700=)	EFCAB10, RINT1 (L146P)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 3314479	NM_021930.6(RINT1):c.2001T>C (p.Cys667=)	EFCAB10, RINT1	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3314471	NM_021930.6(RINT1):c.2090A>T (p.Asn697Ile)	EFCAB10, RINT1 (N619I +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3314469	NM_021930.6(RINT1):c.2115G>C (p.Gln705His)	EFCAB10, RINT1 (Q397H +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3314466	NM_021930.6(RINT1):c.2240T>C (p.Leu747Pro)	EFCAB10, RINT1 (L439P +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3314461	NM_021930.6(RINT1):c.2153A>G (p.His718Arg)	EFCAB10, RINT1 (H377R +3 more)	Single nucleotide variant (synonymous variant +3 more)	not specified	GUncertain significance
Select item 3314460	NM_021930.6(RINT1):c.2238G>A (p.Leu746=)	EFCAB10, RINT1	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GLikely benign
Select item 3314455	NM_021930.6(RINT1):c.2233C>T (p.Leu745=)	EFCAB10, RINT1	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GLikely benign
Select item 3314451	NM_021930.6(RINT1):c.2299G>A (p.Val767Ile)	EFCAB10, RINT1 (V426I +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3314449	NM_021930.6(RINT1):c.2030_2034dup (p.Val679fs)	EFCAB10, RINT1 (V338fs +4 more)	Duplication (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3314440	NM_021930.6(RINT1):c.2235A>G (p.Leu745=)	EFCAB10, RINT1	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GLikely benign
Select item 3314428	NM_021930.6(RINT1):c.2081A>T (p.Asn694Ile)	EFCAB10, RINT1 (N353I +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3314423	NM_021930.6(RINT1):c.2302G>A (p.Gly768Arg)	EFCAB10, RINT1 (G460R +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3314414	NM_021930.6(RINT1):c.1967G>C (p.Arg656Pro)	EFCAB10, RINT1 (R315P +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3314407	NM_021930.6(RINT1):c.1904C>G (p.Ser635Cys)	EFCAB10, RINT1 (S294C +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3245928	NC_000007.14:g.(?_105532316)_(105547343_?)dup	RINT1	Duplication	not provided	GUncertain significance
Select item 3245927	NC_000007.13:g.(?_105172763)_(105192174_?)dup	RINT1	Duplication	not provided	GUncertain significance
Select item 3245926	NC_000007.13:g.(?_105176992)_(105183116_?)del	RINT1	Deletion	not provided	GPathogenic
Select item 3245925	NC_000007.13:g.(?_105172763)_(105189167_?)del	RINT1	Deletion	not provided	GPathogenic
Select item 3227649	NM_021930.6(RINT1):c.2341C>T (p.Leu781Phe)	EFCAB10, RINT1 (L440F +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3227648	NM_021930.6(RINT1):c.2336T>G (p.Ile779Ser)	EFCAB10, RINT1 (I438S +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3227646	NM_021930.6(RINT1):c.2315T>G (p.Leu772Arg)	EFCAB10, RINT1 (L431R +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3227645	NM_021930.6(RINT1):c.2289A>T (p.Ala763=)	EFCAB10, RINT1	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GLikely benign
Select item 3227644	NM_021930.6(RINT1):c.2283A>G (p.Thr761=)	EFCAB10, RINT1	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GLikely benign
Select item 3227643	NM_021930.6(RINT1):c.2276C>G (p.Pro759Arg)	EFCAB10, RINT1 (P418R +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3227642	NM_021930.6(RINT1):c.2255A>G (p.Gln752Arg)	EFCAB10, RINT1 (Q411R +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3227641	NM_021930.6(RINT1):c.2242A>C (p.Lys748Gln)	EFCAB10, RINT1 (K407Q +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3227640	NM_021930.6(RINT1):c.2238G>T (p.Leu746=)	EFCAB10, RINT1	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GLikely benign
Select item 3227639	NM_021930.6(RINT1):c.2216T>G (p.Leu739Trp)	EFCAB10, RINT1 (L398W +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3227638	NM_021930.6(RINT1):c.2187T>A (p.His729Gln)	EFCAB10, RINT1 (H388Q +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3227637	NM_021930.6(RINT1):c.2185C>T (p.His729Tyr)	EFCAB10, RINT1 (H388Y +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3227636	NM_021930.6(RINT1):c.2173A>T (p.Asn725Tyr)	EFCAB10, RINT1 (N384Y +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3227635	NM_021930.6(RINT1):c.2120A>T (p.Asp707Val)	EFCAB10, RINT1 (D366V +4 more)	Single nucleotide variant (nonsense +3 more)	not specified	GUncertain significance
Select item 3227634	NM_021930.6(RINT1):c.2106C>A (p.Ala702=)	EFCAB10, RINT1 (G144V)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 3227632	NM_021930.6(RINT1):c.2082T>A (p.Asn694Lys)	EFCAB10, RINT1 (N353K +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3227631	NM_021930.6(RINT1):c.2053T>C (p.Tyr685His)	EFCAB10, RINT1 (I122V +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3227630	NM_021930.6(RINT1):c.2035G>T (p.Val679Leu)	EFCAB10, RINT1 (Q128K +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3227629	NM_021930.6(RINT1):c.2034T>C (p.Leu678=)	EFCAB10, RINT1 (Q128R)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GLikely benign
Select item 3227628	NM_021930.6(RINT1):c.2028A>T (p.Gln676His)	EFCAB10, RINT1 (F130Y +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3227627	NM_021930.6(RINT1):c.1996C>T (p.Leu666Phe)	EFCAB10, RINT1 (L325F +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3227626	NM_021930.6(RINT1):c.1983G>C (p.Gln661His)	EFCAB10, RINT1 (Q320H +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3227625	NM_021930.6(RINT1):c.1982A>C (p.Gln661Pro)	EFCAB10, RINT1 (Q320P +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3227624	NM_021930.6(RINT1):c.1941G>T (p.Ser647=)	EFCAB10, RINT1	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3227623	NM_021930.6(RINT1):c.1921G>A (p.Val641Met)	EFCAB10, RINT1 (V300M +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3227622	NM_021930.6(RINT1):c.1895C>G (p.Ser632Cys)	EFCAB10, RINT1 (S291C +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3000575	NM_021930.6(RINT1):c.2196A>G (p.Glu732=)	EFCAB10, RINT1	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GLikely benign
Select item 2914093	NM_021930.6(RINT1):c.2067+14G>T	EFCAB10, RINT1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2882501	NM_021930.6(RINT1):c.2067+11A>G	EFCAB10, RINT1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2840174	NM_021930.6(RINT1):c.1975T>A (p.Leu659Ile)	EFCAB10, RINT1 (L351I +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2807022	NM_021930.6(RINT1):c.2321A>G (p.Gln774Arg)	EFCAB10, RINT1 (Q696R +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified +1 more	GUncertain significance
Select item 2795223	NM_021930.6(RINT1):c.2347T>A (p.Leu783Met)	EFCAB10, RINT1 (L475M +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2765041	NM_021930.6(RINT1):c.2019T>C (p.Ile673=)	EFCAB10, RINT1 (K133R)	Single nucleotide variant (missense variant +3 more)	not provided	GLikely benign
Select item 2733155	NM_021930.6(RINT1):c.1927T>A (p.Ser643Thr)	EFCAB10, RINT1 (S643T +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	GUncertain significance
Select item 2725324	NM_021930.6(RINT1):c.2207T>C (p.Val736Ala)	EFCAB10, RINT1 (V658A +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2625535	NM_021930.6(RINT1):c.2217G>T (p.Leu739Phe)	EFCAB10, RINT1 (L398F +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2625533	NM_021930.6(RINT1):c.1969G>T (p.Asp657Tyr)	EFCAB10, RINT1 (D316Y +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2625532	NM_021930.6(RINT1):c.1965A>G (p.Leu655=)	EFCAB10, RINT1	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2625525	NM_021930.6(RINT1):c.2306T>G (p.Ile769Ser)	EFCAB10, RINT1 (I461S +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2625520	NM_021930.6(RINT1):c.1940C>G (p.Ser647Trp)	EFCAB10, RINT1 (S339W +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2624771	NM_021930.6(RINT1):c.2271G>A (p.Gln757=)	EFCAB10, RINT1	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GLikely benign
Select item 2622898	NM_021930.6(RINT1):c.1925T>C (p.Met642Thr)	EFCAB10, RINT1 (M334T +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2622866	NM_021930.6(RINT1):c.2258C>T (p.Ser753Leu)	EFCAB10, RINT1 (S753L +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2622847	NM_021930.6(RINT1):c.2113C>G (p.Gln705Glu)	EFCAB10, RINT1 (Q364E +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2622799	NM_021930.6(RINT1):c.2099G>C (p.Gly700Ala)	EFCAB10, RINT1 (G700A +3 more)	Single nucleotide variant (synonymous variant +3 more)	not specified	GUncertain significance
Select item 2563371	NM_021930.6(RINT1):c.2062C>G (p.Gln688Glu)	EFCAB10, RINT1 (Q347E +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2563365	NM_021930.6(RINT1):c.2035G>A (p.Val679Ile)	EFCAB10, RINT1 (Q128* +4 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2563361	NM_021930.6(RINT1):c.1979T>C (p.Leu660Pro)	EFCAB10, RINT1 (L660P +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2563359	NM_021930.6(RINT1):c.1981C>G (p.Gln661Glu)	EFCAB10, RINT1 (Q320E +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2563358	NM_021930.6(RINT1):c.1931T>C (p.Leu644Pro)	EFCAB10, RINT1 (L336P +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2563357	NM_021930.6(RINT1):c.2074C>A (p.Leu692Ile)	EFCAB10, RINT1 (L384I +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2563347	NM_021930.6(RINT1):c.1897T>C (p.Leu633=)	EFCAB10, RINT1	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2561623	NM_021930.6(RINT1):c.2031G>A (p.Met677Ile)	EFCAB10, RINT1 (A129V +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2560473	NM_021930.6(RINT1):c.2143T>C (p.Leu715=)	EFCAB10, RINT1 (K132E)	Single nucleotide variant (missense variant +3 more)	not specified	GLikely benign
Select item 2560468	NM_021930.6(RINT1):c.2223C>T (p.Val741=)	EFCAB10, RINT1	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GLikely benign
Select item 2496984	NM_021930.6(RINT1):c.2311A>C (p.Lys771Gln)	EFCAB10, RINT1 (K693Q +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2496978	NM_021930.6(RINT1):c.1930del (p.Leu644fs)	EFCAB10, RINT1 (L303fs +3 more)	Deletion (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2496970	NM_021930.6(RINT1):c.2045T>C (p.Leu682Pro)	EFCAB10, RINT1 (L374P +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided +1 more	GUncertain significance
Select item 2496969	NM_021930.6(RINT1):c.2330T>C (p.Val777Ala)	EFCAB10, RINT1 (V436A +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2448430	NM_021930.6(RINT1):c.2065G>A (p.Glu689Lys)	EFCAB10, RINT1 (E611K +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2448428	NM_021930.6(RINT1):c.2033T>C (p.Leu678Pro)	EFCAB10, RINT1 (L337P +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2448426	NM_021930.6(RINT1):c.2354C>T (p.Thr785Ile)	EFCAB10, RINT1 (T444I +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2448420	NM_021930.6(RINT1):c.2281A>C (p.Thr761Pro)	EFCAB10, RINT1 (T453P +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2448418	NM_021930.6(RINT1):c.2150C>T (p.Ser717Phe)	EFCAB10, RINT1 (S717F +3 more)	Single nucleotide variant (synonymous variant +3 more)	not specified	GUncertain significance
Select item 2448410	NM_021930.6(RINT1):c.2086T>C (p.Phe696Leu)	EFCAB10, RINT1 (F388L +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2448407	NM_021930.6(RINT1):c.1980T>C (p.Leu660=)	EFCAB10, RINT1	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2448406	NM_021930.6(RINT1):c.2298A>G (p.Glu766=)	EFCAB10, RINT1	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GLikely benign
Select item 2448403	NM_021930.6(RINT1):c.2047G>A (p.Asp683Asn)	EFCAB10, RINT1 (P124S +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2448402	NM_021930.6(RINT1):c.2144T>C (p.Leu715Ser)	EFCAB10, RINT1 (L374S +3 more)	Single nucleotide variant (synonymous variant +3 more)	not specified	GUncertain significance
Select item 2448401	NM_021930.6(RINT1):c.1926G>A (p.Met642Ile)	EFCAB10, RINT1 (M564I +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2448400	NM_021930.6(RINT1):c.2155T>G (p.Tyr719Asp)	EFCAB10, RINT1 (Y378D +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2447196	NM_021930.6(RINT1):c.2239C>G (p.Leu747Val)	EFCAB10, RINT1 (L439V +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2447148	NM_021930.6(RINT1):c.1895C>T (p.Ser632Phe)	EFCAB10, RINT1 (S291F +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2447125	NM_021930.6(RINT1):c.2128C>G (p.Arg710Gly)	EFCAB10, RINT1 (R632G +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2447101	NM_021930.6(RINT1):c.1962G>T (p.Thr654=)	EFCAB10, RINT1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 2418052	NM_021930.6(RINT1):c.2353del (p.Thr785fs)	EFCAB10, RINT1 (T444fs +3 more)	Deletion (3 prime UTR variant +3 more)	not specified +1 more	GUncertain significance
Select item 2196729	NM_021930.6(RINT1):c.2109G>C (p.Gln703His)	EFCAB10, RINT1 (Q395H +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2194856	NM_021930.6(RINT1):c.2056A>C (p.Ile686Leu)	EFCAB10, RINT1 (C121G +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 2185468	NM_021930.6(RINT1):c.2186+26_2186+31del	EFCAB10, RINT1	Microsatellite (intron variant)	not provided	GLikely benign

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