"Ambry Genetics"[submitter] AND "EFCAB10"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1598770	NM_021930.6(RINT1):c.1887-5dup	EFCAB10, RINT1	Duplication (3 prime UTR variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1781987	NM_021930.6(RINT1):c.1887-3C>T	EFCAB10, RINT1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1781990	NM_021930.6(RINT1):c.1887A>T (p.Arg629Ser)	EFCAB10, RINT1 (R288S +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1782086	NM_021930.6(RINT1):c.1891T>G (p.Leu631Val)	EFCAB10, RINT1 (L290V +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1782083	NM_021930.6(RINT1):c.1891T>C (p.Leu631=)	EFCAB10, RINT1	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 1782110	NM_021930.6(RINT1):c.1893G>C (p.Leu631Phe)	EFCAB10, RINT1 (L290F +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 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 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 699270	NM_021930.6(RINT1):c.1902A>G (p.Pro634=)	EFCAB10, RINT1	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	GLikely benign
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 1782393	NM_021930.6(RINT1):c.1906C>T (p.Gln636Ter)	EFCAB10, RINT1 (Q328* +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 847041	NM_021930.6(RINT1):c.1910C>T (p.Ser637Leu)	EFCAB10, RINT1 (S329L +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 1782573	NM_021930.6(RINT1):c.1915C>T (p.Gln639Ter)	EFCAB10, RINT1 (Q561* +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1782603	NM_021930.6(RINT1):c.1917G>C (p.Gln639His)	EFCAB10, RINT1 (Q298H +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 1160074	NM_021930.6(RINT1):c.1920A>T (p.Ala640=)	EFCAB10, RINT1	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	GLikely benign
Select item 1057209	NM_021930.6(RINT1):c.1920_1922del (p.Val641del)	EFCAB10, RINT1 (V300del +3 more)	Deletion (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
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 1782729	NM_021930.6(RINT1):c.1923G>A (p.Val641=)	EFCAB10, RINT1	Single nucleotide variant (3 prime UTR variant +2 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 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 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 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 1782801	NM_021930.6(RINT1):c.1928C>T (p.Ser643Phe)	EFCAB10, RINT1 (S302F +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 999053	NM_021930.6(RINT1):c.1936A>T (p.Ser646Cys)	EFCAB10, RINT1 (S305C +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 1782986	NM_021930.6(RINT1):c.1937G>T (p.Ser646Ile)	EFCAB10, RINT1 (S338I +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1605951	NM_021930.6(RINT1):c.1938T>C (p.Ser646=)	EFCAB10, RINT1	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	GLikely benign
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 410799	NM_021930.6(RINT1):c.1940C>T (p.Ser647Leu)	EFCAB10, RINT1 (S647L +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	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 1047441	NM_021930.6(RINT1):c.1941G>A (p.Ser647=)	EFCAB10, RINT1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 1783074	NM_021930.6(RINT1):c.1942G>A (p.Ala648Thr)	EFCAB10, RINT1 (A340T +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1783150	NM_021930.6(RINT1):c.1947C>T (p.Cys649=)	EFCAB10, RINT1	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 1783148	NM_021930.6(RINT1):c.1947C>G (p.Cys649Trp)	EFCAB10, RINT1 (C571W +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1015531	NM_021930.6(RINT1):c.1949C>T (p.Pro650Leu)	EFCAB10, RINT1 (P309L +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	GUncertain significance
Select item 2145850	NM_021930.6(RINT1):c.1950G>T (p.Pro650=)	EFCAB10, RINT1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 706211	NM_021930.6(RINT1):c.1950G>A (p.Pro650=)	EFCAB10, RINT1	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	GLikely benign
Select item 1783249	NM_021930.6(RINT1):c.1951T>C (p.Leu651=)	EFCAB10, RINT1	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 661305	NM_021930.6(RINT1):c.1952T>G (p.Leu651Trp)	EFCAB10, RINT1 (L651W +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	GUncertain significance
Select item 839532	NM_021930.6(RINT1):c.1961C>T (p.Thr654Met)	EFCAB10, RINT1 (T654M +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 416399	NM_021930.6(RINT1):c.1962G>A (p.Thr654=)	EFCAB10, RINT1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GBenign/Likely benign
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 1783523	NM_021930.6(RINT1):c.1966C>G (p.Arg656Gly)	EFCAB10, RINT1 (R348G +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 1004811	NM_021930.6(RINT1):c.1966C>T (p.Arg656Ter)	EFCAB10, RINT1 (R315* +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
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 1051054	NM_021930.6(RINT1):c.1967G>A (p.Arg656Gln)	EFCAB10, RINT1 (R315Q +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	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 1783604	NM_021930.6(RINT1):c.1970A>C (p.Asp657Ala)	EFCAB10, RINT1 (D316A +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1783626	NM_021930.6(RINT1):c.1971C>G (p.Asp657Glu)	EFCAB10, RINT1 (D316E +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 955874	NM_021930.6(RINT1):c.1973A>G (p.His658Arg)	EFCAB10, RINT1 (H317R +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1783685	NM_021930.6(RINT1):c.1974T>G (p.His658Gln)	EFCAB10, RINT1 (H350Q +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 836753	NM_021930.6(RINT1):c.1978C>T (p.Leu660Phe)	EFCAB10, RINT1 (L582F +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 224933	NM_021930.6(RINT1):c.1978C>A (p.Leu660Ile)	EFCAB10, RINT1 (L660I +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	GBenign
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 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 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 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 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 1783858	NM_021930.6(RINT1):c.1984T>A (p.Leu662Met)	EFCAB10, RINT1 (L354M +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1612247	NM_021930.6(RINT1):c.1984T>C (p.Leu662=)	EFCAB10, RINT1	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	GLikely benign
Select item 647354	NM_021930.6(RINT1):c.1985_1986insAGAG (p.Gln664fs)	EFCAB10, RINT1 (Q323fs +3 more)	Insertion (3 prime UTR variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 241400	NM_021930.6(RINT1):c.1985T>C (p.Leu662Ser)	EFCAB10, RINT1 (L662S +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	GLikely benign
Select item 1037125	NM_021930.6(RINT1):c.1994A>G (p.Gln665Arg)	EFCAB10, RINT1 (Q357R +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	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 1460163	NM_021930.6(RINT1):c.1998T>C (p.Leu666=)	EFCAB10, RINT1	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	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 241401	NM_021930.6(RINT1):c.2003T>C (p.Phe668Ser)	EFCAB10, RINT1 (F668S +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	GBenign
Select item 1784294	NM_021930.6(RINT1):c.2004C>G (p.Phe668Leu)	EFCAB10, RINT1 (F327L +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1001882	NM_021930.6(RINT1):c.2011T>C (p.Phe671Leu)	EFCAB10, RINT1 (F330L +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 1500720	NM_021930.6(RINT1):c.2021T>C (p.Phe674Ser)	EFCAB10, RINT1 (F333S +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1784617	NM_021930.6(RINT1):c.2024_2031dup (p.Leu678fs)	EFCAB10, RINT1 (R132fs +4 more)	Duplication (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1057823	NM_021930.6(RINT1):c.2026C>G (p.Gln676Glu)	EFCAB10, RINT1 (A131P +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	GUncertain significance
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 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 946207	NM_021930.6(RINT1):c.2029A>G (p.Met677Val)	EFCAB10, RINT1 (M599V +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 1784759	NM_021930.6(RINT1):c.2030T>C (p.Met677Thr)	EFCAB10, RINT1 (M369T +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
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 241402	NM_021930.6(RINT1):c.2032C>T (p.Leu678Phe)	EFCAB10, RINT1 (L678F +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	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 1784792	NM_021930.6(RINT1):c.2033T>G (p.Leu678Arg)	EFCAB10, RINT1 (L600R +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 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 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 830292	NM_021930.6(RINT1):c.2036T>C (p.Val679Ala)	EFCAB10, RINT1 (V338A +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1784942	NM_021930.6(RINT1):c.2043G>A (p.Lys681=)	EFCAB10, RINT1 (A125V)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GLikely benign
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 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 1407048	NM_021930.6(RINT1):c.2050G>A (p.Val684Ile)	EFCAB10, RINT1 (H123Y +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1785088	NM_021930.6(RINT1):c.2052A>T (p.Val684=)	EFCAB10, RINT1 (I122K)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided +1 more	GLikely benign
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 1785108	NM_021930.6(RINT1):c.2054A>G (p.Tyr685Cys)	EFCAB10, RINT1 (Y607C +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	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 1109853	NM_021930.6(RINT1):c.2058C>T (p.Ile686=)	EFCAB10, RINT1	Single nucleotide variant (3 prime UTR variant +3 more)	not provided +1 more	GLikely benign
Select item 1785233	NM_021930.6(RINT1):c.2061C>T (p.Tyr687=)	EFCAB10, RINT1	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GLikely benign
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 1785266	NM_021930.6(RINT1):c.2064A>C (p.Gln688His)	EFCAB10, RINT1 (Q347H +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 644379	NM_021930.6(RINT1):c.2068A>G (p.Ile690Val)	EFCAB10, RINT1 (I349V +3 more)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified +1 more	GUncertain significance

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