ClinVar for Gene (Select 26137) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377072	NM_001348800.3(ZBTB20):c.1897G>A (p.Ala633Thr)	ZBTB20 (A560T +1 more)	Single nucleotide variant (missense variant +1 more)	Primrose syndrome	GLikely pathogenic
Select item 3377070	NM_001348800.3(ZBTB20):c.388C>T (p.Gln130Ter)	ZBTB20 (Q130* +1 more)	Single nucleotide variant (nonsense)	Primrose syndrome	GPathogenic
Select item 3376103	NM_001348800.3(ZBTB20):c.1549G>T (p.Ala517Ser)	ZBTB20 (A444S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372559	NM_001348800.3(ZBTB20):c.1177C>T (p.Gln393Ter)	ZBTB20 (Q320* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3372335	NM_001348800.3(ZBTB20):c.629A>G (p.Asp210Gly)	ZBTB20 (D137G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370199	NM_001348800.3(ZBTB20):c.620C>T (p.Ser207Leu)	ZBTB20 (S134L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368953	NM_001348800.3(ZBTB20):c.896A>G (p.Glu299Gly)	ZBTB20 (E226G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366133	NM_001348800.3(ZBTB20):c.1357G>A (p.Asp453Asn)	ZBTB20 (D380N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365029	NM_001348800.3(ZBTB20):c.788G>A (p.Ser263Asn)	ZBTB20 (S190N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364770	NM_001348800.3(ZBTB20):c.1784A>G (p.Lys595Arg)	ZBTB20 (K522R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361980	NM_001348800.3(ZBTB20):c.1915T>G (p.Cys639Gly)	ZBTB20 (C566G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 3360815	NM_001348800.3(ZBTB20):c.2211T>A (p.His737Gln)	ZBTB20 (H664Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360732	NM_001348800.3(ZBTB20):c.907T>G (p.Ser303Ala)	ZBTB20 (S230A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359852	NM_001348800.3(ZBTB20):c.199+4A>C	ZBTB20	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3344946	NM_001348800.3(ZBTB20):c.1492C>A (p.Gln498Lys)	ZBTB20 (Q425K +1 more)	Single nucleotide variant (missense variant)	ZBTB20-related disorder	GUncertain significance
Select item 3343727	NM_001348800.3(ZBTB20):c.1060GAG[1] (p.Glu355del)	ZBTB20 (E282del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3342469	NM_001348800.3(ZBTB20):c.721G>T (p.Asp241Tyr)	ZBTB20 (D168Y +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3342266	NM_001348800.3(ZBTB20):c.348_361del (p.His118fs)	ZBTB20 (H118fs +1 more)	Deletion (frameshift variant)	Primrose syndrome	GLikely pathogenic
Select item 3337753	NM_001348800.3(ZBTB20):c.1437G>C (p.Gln479His)	ZBTB20 (Q406H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337752	NM_001348800.3(ZBTB20):c.1904A>G (p.Gln635Arg)	ZBTB20 (Q562R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3333872	NM_001348800.3(ZBTB20):c.1229A>T (p.Glu410Val)	ZBTB20 (E410V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3256419	NM_001348800.3(ZBTB20):c.1714C>T (p.Gln572Ter)	ZBTB20 (Q499* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3252403	NM_001348800.3(ZBTB20):c.1165T>G (p.Ser389Ala)	ZBTB20 (S316A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3246964	NC_000003.11:g.(?_114057852)_(114070745_?)del	ZBTB20	Deletion	not provided	GPathogenic
Select item 3235946	NM_001348800.3(ZBTB20):c.1038dup (p.Ile347fs)	ZBTB20 (I274fs +1 more)	Duplication (frameshift variant)	Primrose syndrome	GLikely pathogenic
Select item 3191938	NM_001348800.3(ZBTB20):c.2065G>C (p.Gly689Arg)	ZBTB20 (G616R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3191937	NM_001348800.3(ZBTB20):c.1391C>A (p.Thr464Lys)	ZBTB20 (T391K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3191936	NM_001348800.3(ZBTB20):c.126G>T (p.Leu42Phe)	ZBTB20, ZBTB20-AS1 (L42F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3061231	NM_001348800.3(ZBTB20):c.706C>T (p.Pro236Ser)	ZBTB20 (P163S +1 more)	Single nucleotide variant (missense variant)	ZBTB20-related disorder	GUncertain significance
Select item 3061044	NM_001348800.3(ZBTB20):c.1138A>G (p.Ser380Gly)	ZBTB20 (S307G +1 more)	Single nucleotide variant (missense variant)	ZBTB20-related disorder	GUncertain significance
Select item 3055819	NM_001348800.3(ZBTB20):c.373G>T (p.Gly125Cys)	ZBTB20 (G125C +1 more)	Single nucleotide variant (missense variant)	ZBTB20-related disorder	GUncertain significance
Select item 3048324	NM_001348800.3(ZBTB20):c.1188T>G (p.Pro396=)	ZBTB20	Single nucleotide variant (synonymous variant)	ZBTB20-related disorder	GLikely benign
Select item 3032096	NM_001348800.3(ZBTB20):c.1915T>C (p.Cys639Arg)	ZBTB20 (C566R +1 more)	Single nucleotide variant (missense variant +1 more)	ZBTB20-related disorder	GLikely pathogenic
Select item 3030834	NM_001348800.3(ZBTB20):c.37C>T (p.Gln13Ter)	ZBTB20, ZBTB20-AS1 (Q13*)	Single nucleotide variant (nonsense +2 more)	ZBTB20-related disorder	GUncertain significance
Select item 3030769	NM_001348800.3(ZBTB20):c.2154C>G (p.Ser718=)	ZBTB20	Single nucleotide variant (synonymous variant +1 more)	ZBTB20-related disorder	GLikely benign
Select item 3026794	NM_001348800.3(ZBTB20):c.747G>A (p.Ala249=)	ZBTB20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023921	NM_001348800.3(ZBTB20):c.915C>T (p.Thr305=)	ZBTB20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023187	NM_001348800.3(ZBTB20):c.2136G>A (p.Gly712=)	ZBTB20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3022522	NM_001348800.3(ZBTB20):c.93G>A (p.Pro31=)	ZBTB20, ZBTB20-AS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3018914	NM_001348800.3(ZBTB20):c.2073C>T (p.Pro691=)	ZBTB20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3017309	NM_001348800.3(ZBTB20):c.1365C>A (p.Ser455Arg)	ZBTB20 (S382R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3012983	NM_001348800.3(ZBTB20):c.124T>C (p.Leu42=)	ZBTB20, ZBTB20-AS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3012150	NM_001348800.3(ZBTB20):c.633G>A (p.Thr211=)	ZBTB20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004579	NM_001348800.3(ZBTB20):c.1635C>T (p.Pro545=)	ZBTB20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003987	NM_001348800.3(ZBTB20):c.484G>A (p.Val162Met)	ZBTB20 (V89M +1 more)	Single nucleotide variant (missense variant)	Primrose syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3002681	NM_001348800.3(ZBTB20):c.1552G>A (p.Gly518Ser)	ZBTB20 (G445S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3002668	NM_001348800.3(ZBTB20):c.810C>T (p.His270=)	ZBTB20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001856	NM_001348800.3(ZBTB20):c.639G>A (p.Arg213=)	ZBTB20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001136	NM_001348800.3(ZBTB20):c.2167A>G (p.Lys723Glu)	ZBTB20 (K723E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3000111	NM_001348800.3(ZBTB20):c.525G>T (p.Thr175=)	ZBTB20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997281	NM_001348800.3(ZBTB20):c.1745T>G (p.Leu582Arg)	ZBTB20 (L582R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994614	NM_001348800.3(ZBTB20):c.908C>G (p.Ser303Cys)	ZBTB20 (S230C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2987737	NM_001348800.3(ZBTB20):c.1019A>G (p.Tyr340Cys)	ZBTB20 (Y267C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987158	NM_001348800.3(ZBTB20):c.199+17G>A	ZBTB20, ZBTB20-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985914	NM_001348800.3(ZBTB20):c.1432C>G (p.Arg478Gly)	ZBTB20 (R478G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2984405	NM_001348800.3(ZBTB20):c.1356C>T (p.Ser452=)	ZBTB20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981650	NM_001348800.3(ZBTB20):c.98T>C (p.Leu33Pro)	ZBTB20, ZBTB20-AS1 (L33P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2979315	NM_001348800.3(ZBTB20):c.199+13C>T	ZBTB20, ZBTB20-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977074	NM_001348800.3(ZBTB20):c.1551G>A (p.Ala517=)	ZBTB20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972075	NM_001348800.3(ZBTB20):c.1446C>T (p.Thr482=)	ZBTB20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971124	NM_001348800.3(ZBTB20):c.759G>A (p.Gln253=)	ZBTB20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969977	NM_001348800.3(ZBTB20):c.2118G>C (p.Val706=)	ZBTB20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2967517	NM_001348800.3(ZBTB20):c.1636G>T (p.Gly546Cys)	ZBTB20 (G473C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964479	NM_001348800.3(ZBTB20):c.605C>T (p.Pro202Leu)	ZBTB20 (P129L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2963373	NM_001348800.3(ZBTB20):c.1563C>T (p.Pro521=)	ZBTB20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956518	NM_001348800.3(ZBTB20):c.2129C>T (p.Thr710Met)	ZBTB20 (T710M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2921295	NM_001348800.3(ZBTB20):c.1967A>G (p.His656Arg)	ZBTB20 (H656R +1 more)	Single nucleotide variant (missense variant +1 more)	Primrose syndrome	GPathogenic
Select item 2903366	NM_001348800.3(ZBTB20):c.85G>A (p.Ala29Thr)	ZBTB20, ZBTB20-AS1 (A29T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2903227	NM_001348800.3(ZBTB20):c.372C>T (p.Ala124=)	ZBTB20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900937	NM_001348800.3(ZBTB20):c.718G>T (p.Val240Leu)	ZBTB20 (V167L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2898251	NM_001348800.3(ZBTB20):c.762T>C (p.Asn254=)	ZBTB20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898250	NM_001348800.3(ZBTB20):c.819G>A (p.Ala273=)	ZBTB20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898249	NM_001348800.3(ZBTB20):c.1080A>C (p.Thr360=)	ZBTB20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894089	NM_001348800.3(ZBTB20):c.186C>T (p.Thr62=)	ZBTB20, ZBTB20-AS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2892510	NM_001348800.3(ZBTB20):c.1587A>G (p.Pro529=)	ZBTB20	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2889077	NM_001348800.3(ZBTB20):c.150C>T (p.His50=)	ZBTB20, ZBTB20-AS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign/Likely benign
Select item 2887824	NM_001348800.3(ZBTB20):c.1797A>G (p.Val599=)	ZBTB20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887491	NM_001348800.3(ZBTB20):c.324G>C (p.Val108=)	ZBTB20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883999	NM_001348800.3(ZBTB20):c.1879A>G (p.Thr627Ala)	ZBTB20 (T554A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2883003	NM_001348800.3(ZBTB20):c.1446C>G (p.Thr482=)	ZBTB20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877470	NM_001348800.3(ZBTB20):c.417C>T (p.Asp139=)	ZBTB20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2866026	NM_001348800.3(ZBTB20):c.2041G>T (p.Val681Leu)	ZBTB20 (V681L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2858701	NM_001348800.3(ZBTB20):c.2080G>A (p.Gly694Ser)	ZBTB20 (G694S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2851050	NM_001348800.3(ZBTB20):c.854C>G (p.Pro285Arg)	ZBTB20 (P285R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2839669	NM_001348800.3(ZBTB20):c.513G>A (p.Leu171=)	ZBTB20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2837919	NM_001348800.3(ZBTB20):c.472A>G (p.Met158Val)	ZBTB20 (M85V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2830029	NM_001348800.3(ZBTB20):c.1851A>G (p.Leu617=)	ZBTB20	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2827615	NM_001348800.3(ZBTB20):c.1227C>T (p.Pro409=)	ZBTB20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2819945	NM_001348800.3(ZBTB20):c.1693G>A (p.Gly565Ser)	ZBTB20 (G492S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2808726	NM_001348800.3(ZBTB20):c.1747T>C (p.Cys583Arg)	ZBTB20 (C510R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2805453	NM_001348800.3(ZBTB20):c.1176G>A (p.Gln392=)	ZBTB20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2804950	NM_001348800.3(ZBTB20):c.459G>A (p.Lys153=)	ZBTB20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2800200	NM_001348800.3(ZBTB20):c.2182G>A (p.Glu728Lys)	ZBTB20 (E728K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2797255	NM_001348800.3(ZBTB20):c.1245C>A (p.Ala415=)	ZBTB20	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2797092	NM_001348800.3(ZBTB20):c.1307G>A (p.Ser436Asn)	ZBTB20 (S363N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2793803	NM_001348800.3(ZBTB20):c.705C>T (p.His235=)	ZBTB20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787907	NM_001348800.3(ZBTB20):c.1023G>A (p.Gly341=)	ZBTB20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785422	NM_001348800.3(ZBTB20):c.1719C>A (p.Gly573=)	ZBTB20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781926	NM_001348800.3(ZBTB20):c.200-4_200-3delinsTT	ZBTB20, ZBTB20-AS1	Indel (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2779347	NM_001348800.3(ZBTB20):c.2116G>A (p.Val706Met)	ZBTB20 (V706M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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