ClinVar for Gene (Select 1147) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3012521	NM_001278.5(CHUK):c.1314A>G (p.Lys438=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012258	NM_001278.5(CHUK):c.201-13dup	CHUK	Duplication (intron variant)	not provided	GBenign
Select item 3008922	NM_001278.5(CHUK):c.201-8C>T	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007727	NM_001278.5(CHUK):c.798-16T>G	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998172	NM_001278.5(CHUK):c.636T>C (p.Phe212=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997662	NM_001278.5(CHUK):c.385+14T>G	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992324	NM_001278.5(CHUK):c.564+12T>C	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988456	NM_001278.5(CHUK):c.2209-11C>G	CHUK	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2981034	NM_001278.5(CHUK):c.759G>A (p.Arg253=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975459	NM_001278.5(CHUK):c.689+9T>C	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974234	NM_001278.5(CHUK):c.989C>T (p.Pro330Leu)	CHUK (P330L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971404	NM_001278.5(CHUK):c.2108+18C>T	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971396	NM_001278.5(CHUK):c.1231+12C>A	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968187	NM_001278.5(CHUK):c.797+15G>A	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960877	NM_001278.5(CHUK):c.381T>C (p.Asp127=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958348	NM_001278.5(CHUK):c.1294C>T (p.His432Tyr)	CHUK (H432Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957831	NM_001278.5(CHUK):c.1569+15G>A	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2904906	NM_001278.5(CHUK):c.1818T>C (p.Gly606=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899237	NM_001278.5(CHUK):c.876C>T (p.Asp292=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893910	NM_001278.5(CHUK):c.2055G>A (p.Pro685=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2879454	NM_001278.5(CHUK):c.105+13G>C	CHUK, LOC130004523	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870836	NM_001278.5(CHUK):c.1231+10G>T	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2845658	NM_001278.5(CHUK):c.84C>T (p.Asn28=)	CHUK, LOC130004523	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2831303	NM_001278.5(CHUK):c.1827-14T>C	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818340	NM_001278.5(CHUK):c.798-13G>A	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807759	NM_001278.5(CHUK):c.450A>C (p.Ile150=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807557	NM_001278.5(CHUK):c.1974+8A>G	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2791334	NM_001278.5(CHUK):c.1302G>A (p.Val434=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787517	NM_001278.5(CHUK):c.1936A>C (p.Arg646=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781684	NM_001278.5(CHUK):c.626C>T (p.Thr209Ile)	CHUK (T209I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2770688	NM_001278.5(CHUK):c.921T>A (p.Ile307=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2759779	NM_001278.5(CHUK):c.1896C>T (p.Ile632=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2743774	NM_001278.5(CHUK):c.1508-5T>C	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2743383	NM_001278.5(CHUK):c.543T>C (p.Phe181=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2612788	NM_001278.5(CHUK):c.14C>T (p.Pro5Leu)	CHUK, LOC130004523 (P5L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2541432	NM_001278.5(CHUK):c.1670T>C (p.Met557Thr)	CHUK (M557T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541346	NM_001278.5(CHUK):c.364C>T (p.Leu122Phe)	CHUK (L122F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537357	NM_001278.5(CHUK):c.1897A>G (p.Lys633Glu)	CHUK (K633E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495535	NM_001278.5(CHUK):c.1037G>C (p.Gly346Ala)	CHUK (G346A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494566	NM_001278.5(CHUK):c.1262T>C (p.Ile421Thr)	CHUK (I421T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482261	NM_001278.5(CHUK):c.1858G>A (p.Asp620Asn)	CHUK (D620N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	ABCC2, ACTR1A +95 more	Duplication	not provided	GUncertain significance
Select item 2417320	NM_001278.5(CHUK):c.1496C>T (p.Thr499Met)	CHUK (T499M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2328754	NM_001278.5(CHUK):c.82A>C (p.Asn28His)	CHUK, LOC130004523 (N28H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322617	NM_001278.5(CHUK):c.1093C>T (p.Arg365Trp)	CHUK (R365W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263010	NM_001278.5(CHUK):c.1270C>T (p.Arg424Cys)	CHUK (R424C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225846	NM_001278.5(CHUK):c.476T>C (p.Ile159Thr)	CHUK (I159T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2200765	NM_001278.5(CHUK):c.385+4C>A	CHUK	Single nucleotide variant (intron variant)	CHUK-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2197252	NM_001278.5(CHUK):c.201-5A>G	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2193750	NM_001278.5(CHUK):c.1028G>A (p.Arg343His)	CHUK (R343H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2187807	NM_001278.5(CHUK):c.1908C>A (p.Asp636Glu)	CHUK (D636E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2180322	NM_001278.5(CHUK):c.1219G>A (p.Val407Ile)	CHUK (V407I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2132151	NM_001278.5(CHUK):c.1425A>G (p.Gln475=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2124378	NM_001278.5(CHUK):c.923T>C (p.Leu308Ser)	CHUK (L308S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2123939	NM_001278.5(CHUK):c.1457G>T (p.Ser486Ile)	CHUK (S486I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2103409	NM_001278.5(CHUK):c.1356-9G>A	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2095518	NM_001278.5(CHUK):c.2001A>G (p.Val667=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2068329	NM_001278.5(CHUK):c.1443G>A (p.Glu481=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2043242	NM_001278.5(CHUK):c.106G>A (p.Glu36Lys)	CHUK (E36K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2025004	NM_001278.5(CHUK):c.1128+16A>G	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2020690	NM_001278.5(CHUK):c.1053T>C (p.Ser351=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2013589	NM_001278.5(CHUK):c.185T>A (p.Ile62Asn)	CHUK (I62N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2005390	NM_001278.5(CHUK):c.1025A>G (p.Glu342Gly)	CHUK (E342G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1960870	NM_001278.5(CHUK):c.1771G>A (p.Val591Met)	CHUK (V591M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958609	NM_001278.5(CHUK):c.843T>C (p.Asn281=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1957109	NM_001278.5(CHUK):c.337T>G (p.Cys113Gly)	CHUK (C113G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1954817	NM_001278.5(CHUK):c.2209-8G>C	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1951743	NM_001278.5(CHUK):c.896G>C (p.Arg299Thr)	CHUK (R299T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1946354	NM_001278.5(CHUK):c.29G>C (p.Gly10Ala)	CHUK, LOC130004523 (G10A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1943778	NM_001278.5(CHUK):c.2109-17G>T	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1942914	NM_001278.5(CHUK):c.1444T>A (p.Phe482Ile)	CHUK (F482I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1941581	NM_001278.5(CHUK):c.385+10A>C	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1940863	NM_001278.5(CHUK):c.1036G>A (p.Gly346Arg)	CHUK (G346R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1936347	NM_001278.5(CHUK):c.1231+3A>G	CHUK	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1936180	NM_001278.5(CHUK):c.42C>T (p.Pro14=)	CHUK, LOC130004523	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1927211	NM_001278.5(CHUK):c.386-18A>G	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1925484	NM_001278.5(CHUK):c.91C>T (p.Leu31=)	LOC130004523, CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1922525	NM_001278.5(CHUK):c.2109-14C>T	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1916083	NM_001278.5(CHUK):c.201-20A>G	CHUK	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1915226	NM_001278.5(CHUK):c.106-7T>G	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1914422	NM_001278.5(CHUK):c.1094G>A (p.Arg365Gln)	CHUK (R365Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1913396	NM_001278.5(CHUK):c.1680-19C>T	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1911844	NM_001278.5(CHUK):c.93G>T (p.Leu31=)	CHUK, LOC130004523	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1910737	NM_001278.5(CHUK):c.1569+14C>T	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1908514	NM_001278.5(CHUK):c.2080C>T (p.Leu694=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1907923	NM_001278.5(CHUK):c.51G>A (p.Met17Ile)	CHUK, LOC130004523 (M17I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1900880	NM_001278.5(CHUK):c.2108+14G>C	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1898353	NM_001278.5(CHUK):c.1356-16dup	CHUK	Duplication (intron variant)	not provided	GBenign
Select item 1668611	NM_001278.5(CHUK):c.1831T>C (p.Leu611=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1667719	NM_001278.5(CHUK):c.2140T>C (p.Leu714=)	CHUK (F708S)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1667444	NM_001278.5(CHUK):c.582G>A (p.Glu194=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1663335	NM_001278.5(CHUK):c.1569+18A>G	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1660163	NM_001278.5(CHUK):c.765T>C (p.Ser255=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1659619	NM_001278.5(CHUK):c.1719C>T (p.His573=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1656529	NM_001278.5(CHUK):c.883T>C (p.Leu295=)	CHUK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1655587	NM_001278.5(CHUK):c.1680-18G>A	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1654196	NM_001278.5(CHUK):c.315+17G>C	CHUK	Single nucleotide variant (intron variant)	not provided	GLikely benign

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