ClinVar for Gene (Select 2146) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3091369	NM_004456.5(EZH2):c.555_563del (p.Asp187_Asp189del)	EZH2	Deletion (inframe_deletion +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3091368	NM_004456.5(EZH2):c.1735T>C (p.Tyr579His)	EZH2 (Y565H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091366	NM_004456.5(EZH2):c.1180G>C (p.Gly394Arg)	EZH2 (G394R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3075661	NM_004456.5(EZH2):c.2035G>C (p.Val679Leu)	EZH2 (V623L +4 more)	Single nucleotide variant (missense variant)	Weaver syndrome	GLikely pathogenic
Select item 3068063	NM_004456.5(EZH2):c.2230_2232dup (p.Ile744_Glu745insIle)	EZH2	Duplication (inframe_insertion)	Weaver syndrome	GUncertain significance
Select item 3067670	NM_004456.5(EZH2):c.1154G>A (p.Ser385Asn)	EZH2 (S341N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3067575	NM_004456.5(EZH2):c.964A>C (p.Asn322His)	EZH2 (N278H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 3062112	NM_004456.5(EZH2):c.2111-3_2115dup	EZH2	Duplication (splice acceptor variant)	Weaver syndrome	GUncertain significance
Select item 3061190	NM_004456.5(EZH2):c.380T>G (p.Val127Gly)	EZH2 (V118G +2 more)	Single nucleotide variant (missense variant)	EZH2-related condition	GUncertain significance
Select item 3027053	NM_004456.5(EZH2):c.394C>A (p.Pro132Thr)	EZH2 (P123T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3024349	NM_004456.5(EZH2):c.2195+1G>A	EZH2	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 3023387	NM_004456.5(EZH2):c.1410+9T>C	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GLikely benign
Select item 3019647	NM_004456.5(EZH2):c.2029+3_2029+25del	EZH2	Deletion (splice donor variant)	Weaver syndrome	GUncertain significance
Select item 3013565	NM_004456.5(EZH2):c.485-9G>A	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GLikely benign
Select item 3010615	NM_004456.5(EZH2):c.644C>T (p.Pro215Leu)	EZH2 (P176L +2 more)	Single nucleotide variant (missense variant)	Weaver syndrome	GUncertain significance
Select item 3008328	NM_004456.5(EZH2):c.968A>T (p.Lys323Ile)	EZH2 (K279I +3 more)	Single nucleotide variant (missense variant)	Weaver syndrome	GUncertain significance
Select item 2997529	NM_004456.5(EZH2):c.1458C>G (p.Pro486=)	EZH2	Single nucleotide variant (synonymous variant)	Weaver syndrome	GLikely benign
Select item 2989387	NM_004456.5(EZH2):c.1246A>G (p.Asn416Asp)	EZH2 (N372D +3 more)	Single nucleotide variant (missense variant)	Weaver syndrome	GUncertain significance
Select item 2980395	NM_004456.5(EZH2):c.300T>C (p.Thr100=)	EZH2	Single nucleotide variant (synonymous variant +1 more)	Weaver syndrome	GLikely benign
Select item 2972430	NM_004456.5(EZH2):c.1949T>C (p.Ile650Thr)	EZH2 (I606T +4 more)	Single nucleotide variant (missense variant)	Weaver syndrome	GUncertain significance
Select item 2971157	NM_004456.5(EZH2):c.1258C>G (p.Gln420Glu)	EZH2 (Q406E +3 more)	Single nucleotide variant (missense variant)	Weaver syndrome	GUncertain significance
Select item 2966674	NM_004456.5(EZH2):c.1054C>T (p.Pro352Ser)	EZH2 (P338S +3 more)	Single nucleotide variant (missense variant)	Weaver syndrome	GUncertain significance
Select item 2917380	NM_004456.5(EZH2):c.310G>A (p.Val104Ile)	EZH2 (V104I +1 more)	Single nucleotide variant (missense variant +1 more)	Weaver syndrome	GUncertain significance
Select item 2917064	NM_004456.5(EZH2):c.1413G>T (p.Val471=)	EZH2	Single nucleotide variant (synonymous variant)	Weaver syndrome	GLikely benign
Select item 2916675	NM_004456.5(EZH2):c.87C>T (p.Leu29=)	EZH2	Single nucleotide variant (synonymous variant)	Weaver syndrome	GLikely benign
Select item 2915912	NM_004456.5(EZH2):c.535G>A (p.Gly179Ser)	EZH2 (G179S +2 more)	Single nucleotide variant (missense variant)	Weaver syndrome	GUncertain significance
Select item 2915733	NM_004456.5(EZH2):c.1488A>G (p.Lys496=)	EZH2	Single nucleotide variant (synonymous variant)	Weaver syndrome	GLikely benign
Select item 2914953	NM_004456.5(EZH2):c.363+9A>G	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GLikely benign
Select item 2906761	NM_004456.5(EZH2):c.1547-8T>C	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GLikely benign
Select item 2904985	NM_004456.5(EZH2):c.2214C>T (p.Ala738=)	EZH2	Single nucleotide variant (synonymous variant)	Weaver syndrome	GLikely benign
Select item 2903866	NM_004456.5(EZH2):c.492G>A (p.Gly164=)	EZH2	Single nucleotide variant (synonymous variant)	Weaver syndrome	GLikely benign
Select item 2903651	NM_004456.5(EZH2):c.1014G>A (p.Glu338=)	EZH2	Single nucleotide variant (synonymous variant)	Weaver syndrome	GLikely benign
Select item 2903164	NM_004456.5(EZH2):c.1749A>G (p.Arg583=)	EZH2	Single nucleotide variant (synonymous variant)	Weaver syndrome	GLikely benign
Select item 2902949	NM_004456.5(EZH2):c.1054C>G (p.Pro352Ala)	EZH2 (P347A +3 more)	Single nucleotide variant (missense variant)	Weaver syndrome	GUncertain significance
Select item 2902319	NM_004456.5(EZH2):c.285C>A (p.Val95=)	EZH2	Single nucleotide variant (synonymous variant +1 more)	Weaver syndrome	GLikely benign
Select item 2901846	NM_004456.5(EZH2):c.1267A>G (p.Ile423Val)	EZH2 (I379V +3 more)	Single nucleotide variant (missense variant)	Weaver syndrome	GUncertain significance
Select item 2901047	NM_004456.5(EZH2):c.2199C>T (p.Tyr733=)	EZH2	Single nucleotide variant (synonymous variant)	Weaver syndrome	GLikely benign
Select item 2898796	NM_004456.5(EZH2):c.2113A>G (p.Met705Val)	EZH2 (M700V +4 more)	Single nucleotide variant (missense variant)	Weaver syndrome	GUncertain significance
Select item 2896566	NM_004456.5(EZH2):c.51G>A (p.Lys17=)	EZH2	Single nucleotide variant (synonymous variant)	Weaver syndrome	GLikely benign
Select item 2894341	NM_004456.5(EZH2):c.1659A>G (p.Gln553=)	EZH2	Single nucleotide variant (synonymous variant +1 more)	Weaver syndrome	GLikely benign
Select item 2893230	NM_004456.5(EZH2):c.208A>G (p.Ile70Val)	EZH2 (I70V)	Single nucleotide variant (missense variant)	Weaver syndrome	GUncertain significance
Select item 2891494	NM_004456.5(EZH2):c.907+11A>G	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GLikely benign
Select item 2890955	NM_004456.5(EZH2):c.1000-14T>G	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GLikely benign
Select item 2888755	NM_004456.5(EZH2):c.1033G>A (p.Ala345Thr)	EZH2 (A340T +3 more)	Single nucleotide variant (missense variant)	Weaver syndrome	GLikely benign
Select item 2887403	NM_004456.5(EZH2):c.626-6G>T	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GLikely benign
Select item 2887305	NM_004456.5(EZH2):c.1467T>C (p.Asp489=)	EZH2	Single nucleotide variant (synonymous variant)	Weaver syndrome	GLikely benign
Select item 2885525	NM_004456.5(EZH2):c.241A>G (p.Arg81Gly)	EZH2 (R81G)	Single nucleotide variant (missense variant +1 more)	Weaver syndrome	GUncertain significance
Select item 2885078	NM_004456.5(EZH2):c.741C>T (p.Leu247=)	EZH2	Single nucleotide variant (synonymous variant)	Weaver syndrome	GLikely benign
Select item 2882700	NM_004456.5(EZH2):c.2030-10T>C	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GLikely benign
Select item 2881390	NM_004456.5(EZH2):c.484+15T>C	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GLikely benign
Select item 2878666	NM_004456.5(EZH2):c.237G>A (p.Gly79=)	EZH2	Single nucleotide variant (synonymous variant +1 more)	Weaver syndrome	GLikely benign
Select item 2876261	NM_004456.5(EZH2):c.906T>C (p.Tyr302=)	EZH2	Single nucleotide variant (synonymous variant +1 more)	Weaver syndrome	GUncertain significance
Select item 2874768	NM_004456.5(EZH2):c.118-4T>A	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GLikely benign
Select item 2868365	NM_004456.5(EZH2):c.1551C>G (p.Gly517=)	EZH2	Single nucleotide variant (synonymous variant +1 more)	Weaver syndrome	GLikely benign
Select item 2860355	NM_004456.5(EZH2):c.2111-8C>T	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GLikely benign
Select item 2857171	NM_004456.5(EZH2):c.485-14T>C	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GLikely benign
Select item 2855710	NM_004456.5(EZH2):c.1000-13T>C	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GLikely benign
Select item 2854526	NM_004456.5(EZH2):c.1061G>A (p.Arg354His)	EZH2 (R340H +3 more)	Single nucleotide variant (missense variant)	Weaver syndrome	GLikely benign
Select item 2852991	NM_004456.5(EZH2):c.954A>T (p.Thr318=)	EZH2	Single nucleotide variant (synonymous variant)	Weaver syndrome	GLikely benign
Select item 2851426	NM_004456.5(EZH2):c.1347T>C (p.Ile449=)	EZH2	Single nucleotide variant (synonymous variant)	Weaver syndrome	GLikely benign
Select item 2845819	NM_004456.5(EZH2):c.907+20C>G	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GLikely benign
Select item 2841466	NM_004456.5(EZH2):c.1240+13T>G	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GLikely benign
Select item 2836711	NM_004456.5(EZH2):c.1672+20A>G	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GLikely benign
Select item 2836162	NM_004456.5(EZH2):c.549T>A (p.Asp183Glu)	EZH2 (D183E +2 more)	Single nucleotide variant (missense variant)	Weaver syndrome	GUncertain significance
Select item 2827947	NM_004456.5(EZH2):c.484+8A>G	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GLikely benign
Select item 2824969	NM_004456.5(EZH2):c.813T>C (p.Ser271=)	EZH2	Single nucleotide variant (synonymous variant)	Weaver syndrome	GLikely benign
Select item 2811010	NM_004456.5(EZH2):c.2029+4T>C	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GUncertain significance
Select item 2808905	NM_004456.5(EZH2):c.787A>G (p.Asn263Asp)	EZH2 (N224D +2 more)	Single nucleotide variant (missense variant)	Weaver syndrome	GUncertain significance
Select item 2800912	NM_004456.5(EZH2):c.2220G>C (p.Lys740Asn)	EZH2 (K684N +4 more)	Single nucleotide variant (missense variant)	Weaver syndrome	GUncertain significance
Select item 2800781	NM_004456.5(EZH2):c.1024G>C (p.Ala342Pro)	EZH2 (A328P +3 more)	Single nucleotide variant (missense variant)	Weaver syndrome	GUncertain significance
Select item 2784561	NM_004456.5(EZH2):c.900C>G (p.Cys300Trp)	EZH2 (C300W)	Single nucleotide variant (missense variant +1 more)	Weaver syndrome	GUncertain significance
Select item 2776624	NM_004456.5(EZH2):c.1505+12A>T	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GLikely benign
Select item 2766107	NM_004456.5(EZH2):c.1841G>C (p.Gly614Ala)	EZH2 (G570A +4 more)	Single nucleotide variant (missense variant)	Weaver syndrome	GUncertain significance
Select item 2765939	NM_004456.5(EZH2):c.1707A>T (p.Ala569=)	EZH2	Single nucleotide variant (synonymous variant)	Weaver syndrome	GLikely benign
Select item 2763453	NM_004456.5(EZH2):c.1546+19C>G	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GLikely benign
Select item 2762176	NM_004456.5(EZH2):c.1927A>C (p.Ile643Leu)	EZH2 (I599L +4 more)	Single nucleotide variant (missense variant)	Weaver syndrome	GUncertain significance
Select item 2759712	NM_004456.5(EZH2):c.2110+17T>C	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GLikely benign
Select item 2754746	NM_004456.5(EZH2):c.2111-16GT[2]	EZH2	Microsatellite (intron variant)	Weaver syndrome	GLikely benign
Select item 2749646	NM_004456.5(EZH2):c.1672+14G>A	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GLikely benign
Select item 2748254	NM_004456.5(EZH2):c.1948-16G>C	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GLikely benign
Select item 2741170	NM_004456.5(EZH2):c.1456C>G (p.Pro486Ala)	EZH2 (P472A +3 more)	Single nucleotide variant (missense variant)	Weaver syndrome	GUncertain significance
Select item 2740236	NM_004456.5(EZH2):c.1672+19G>C	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GLikely benign
Select item 2739732	NM_004456.5(EZH2):c.285C>T (p.Val95=)	EZH2	Single nucleotide variant (synonymous variant +1 more)	Weaver syndrome	GLikely benign
Select item 2739095	NM_004456.5(EZH2):c.1948-18C>T	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GLikely benign
Select item 2738980	NM_004456.5(EZH2):c.2058T>G (p.Gly686=)	EZH2	Single nucleotide variant (synonymous variant)	Weaver syndrome	GLikely benign
Select item 2734356	NM_004456.5(EZH2):c.1218A>G (p.Lys406=)	EZH2	Single nucleotide variant (synonymous variant)	Weaver syndrome	GLikely benign
Select item 2727916	NM_004456.5(EZH2):c.364-15del	EZH2	Deletion (intron variant)	Weaver syndrome	GLikely benign
Select item 2727029	NM_004456.5(EZH2):c.1000-7T>G	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GLikely benign
Select item 2725852	NM_004456.5(EZH2):c.2030-20G>A	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GLikely benign
Select item 2724064	NM_004456.5(EZH2):c.1410+11C>T	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GLikely benign
Select item 2723994	NM_004456.5(EZH2):c.625+4T>C	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GUncertain significance
Select item 2723273	NM_004456.5(EZH2):c.118-22_118-18del	EZH2	Deletion (intron variant)	Weaver syndrome	GLikely benign
Select item 2718889	NM_004456.5(EZH2):c.1763A>G (p.Asp588Gly)	EZH2 (D532G +4 more)	Single nucleotide variant (missense variant)	Weaver syndrome	GUncertain significance
Select item 2717450	NM_004456.5(EZH2):c.117+16T>C	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GLikely benign
Select item 2713651	NM_004456.5(EZH2):c.364-9T>G	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GLikely benign
Select item 2702377	NM_004456.5(EZH2):c.824A>C (p.Glu275Ala)	EZH2 (E236A +2 more)	Single nucleotide variant (missense variant)	Weaver syndrome	GUncertain significance
Select item 2701425	NM_004456.5(EZH2):c.1215G>C (p.Lys405Asn)	EZH2 (K405N +3 more)	Single nucleotide variant (missense variant)	Weaver syndrome	GUncertain significance
Select item 2700047	NM_004456.5(EZH2):c.1947+10T>G	EZH2	Single nucleotide variant (intron variant)	Weaver syndrome	GLikely benign

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