ClinVar for Gene (Select 2035) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247964	NC_000001.10:g.(?_29356892)_(29442309_?)dup	EPB41	Duplication	not provided	GUncertain significance
Select item 3247963	NC_000001.10:g.(?_29385081)_(29391690_?)del	EPB41	Deletion	not provided	GUncertain significance
Select item 3247961	NC_000001.10:g.(?_29323707)_(29323851_?)del	EPB41	Deletion	not provided	GUncertain significance
Select item 3239143	NM_001376013.1(EPB41):c.1228G>T (p.Asp410Tyr)	EPB41 (D201Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3089364	NM_001376013.1(EPB41):c.1223G>C (p.Gly408Ala)	EPB41 (G408A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089363	NM_001376013.1(EPB41):c.2459T>C (p.Ile820Thr)	EPB41 (I597T +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089362	NM_001376013.1(EPB41):c.2305G>A (p.Ala769Thr)	EPB41 (A546T +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089361	NM_001376013.1(EPB41):c.2263G>A (p.Val755Ile)	EPB41 (V513I +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067262	NM_001376013.1(EPB41):c.1369G>A (p.Glu457Lys)	EPB41 (E248K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3065436	NM_001376013.1(EPB41):c.2563G>A (p.Val855Ile)	EPB41 (V579I +7 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1	GUncertain significance
Select item 3051804	NM_001376013.1(EPB41):c.681+9G>A	EPB41	Single nucleotide variant (intron variant)	EPB41-related disorder	GLikely benign
Select item 3046789	NM_001376013.1(EPB41):c.255G>A (p.Ser85=)	EPB41	Single nucleotide variant (synonymous variant +1 more)	EPB41-related disorder	GLikely benign
Select item 3041170	NM_001376013.1(EPB41):c.829+8G>C	EPB41	Single nucleotide variant (intron variant)	EPB41-related disorder	GLikely benign
Select item 3034843	NM_001376013.1(EPB41):c.2016C>T (p.Asp672=)	EPB41	Single nucleotide variant (synonymous variant)	EPB41-related disorder	GLikely benign
Select item 3034242	NM_001376013.1(EPB41):c.2099G>A (p.Arg700Gln)	EPB41 (R436Q +11 more)	Single nucleotide variant (missense variant)	EPB41-related disorder	GLikely benign
Select item 3005432	NM_001376013.1(EPB41):c.909T>C (p.Tyr303=)	EPB41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983773	NM_001376013.1(EPB41):c.252C>G (p.Ser84=)	EPB41	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2975805	NM_001376013.1(EPB41):c.929G>A (p.Arg310Gln)	EPB41 (R310Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974016	NM_001376013.1(EPB41):c.518_520del (p.Gly173del)	EPB41 (G173del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2973575	NM_001376013.1(EPB41):c.1333A>G (p.Ser445Gly)	EPB41 (S236G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964301	NM_001376013.1(EPB41):c.1560T>C (p.Ala520=)	EPB41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2958653	NM_001376013.1(EPB41):c.1366-16_1366-13del	EPB41	Deletion (intron variant)	not provided	GLikely benign
Select item 2921106	NM_001376013.1(EPB41):c.2328T>C (p.Ser776=)	EPB41	Single nucleotide variant (synonymous variant +1 more)	Elliptocytosis 1	GLikely benign
Select item 2920914	NM_001376013.1(EPB41):c.1930A>G (p.Ile644Val)	EPB41 (I643V +2 more)	Single nucleotide variant (missense variant +1 more)	Elliptocytosis 1	GLikely benign
Select item 2920823	NM_001376013.1(EPB41):c.353T>A (p.Phe118Tyr)	EPB41 (F118Y)	Single nucleotide variant (missense variant +1 more)	Elliptocytosis 1	GUncertain significance
Select item 2877153	NM_001376013.1(EPB41):c.1719C>T (p.Gly573=)	EPB41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2855191	NM_001376013.1(EPB41):c.1636+1G>T	EPB41	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2825890	NM_001376013.1(EPB41):c.1834G>A (p.Glu612Lys)	EPB41 (E612K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2819907	NM_001376013.1(EPB41):c.1473dup (p.Thr492fs)	EPB41 (T457fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2806543	NM_001376013.1(EPB41):c.787-11C>T	EPB41	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2794866	NM_001376013.1(EPB41):c.1038C>T (p.Gly346=)	EPB41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2779958	NM_001376013.1(EPB41):c.2143C>T (p.Arg715Ter)	EPB41 (R452* +11 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2729755	NM_001376013.1(EPB41):c.786+3G>A	EPB41	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2726408	NM_001376013.1(EPB41):c.639G>A (p.Lys213=)	EPB41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2725090	NM_001376013.1(EPB41):c.661G>A (p.Val221Ile)	EPB41 (V12I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2690597	NM_001376013.1(EPB41):c.2085_2089del (p.Val696fs)	EPB41 (V432fs +11 more)	Deletion (frameshift variant)	Elliptocytosis 1	GLikely pathogenic
Select item 2689015	NM_001376013.1(EPB41):c.1354C>T (p.Arg452Trp)	EPB41 (R243W +2 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1	GUncertain significance
Select item 2689014	NM_001376013.1(EPB41):c.2444G>A (p.Arg815His)	EPB41 (R539H +7 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1 +1 more	GUncertain significance
Select item 2683708	NM_001376013.1(EPB41):c.1002G>T (p.Gln334His)	EPB41 (Q125H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683707	NM_001376013.1(EPB41):c.567del (p.Gln190fs)	EPB41 (Q190fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2683706	NM_001376013.1(EPB41):c.172G>A (p.Gly58Arg)	EPB41 (G58R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2683705	NM_001376013.1(EPB41):c.34G>A (p.Glu12Lys)	EPB41 (E12K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2663957	NM_001376013.1(EPB41):c.2269A>G (p.Ile757Val)	EPB41 (I494V +7 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1	GUncertain significance
Select item 2638584	NM_001376013.1(EPB41):c.1629C>T (p.Leu543=)	EPB41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638583	NM_001376013.1(EPB41):c.468+4A>T	EPB41	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2638582	NM_001376013.1(EPB41):c.33C>G (p.Ala11=)	EPB41	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2633802	NM_001376013.1(EPB41):c.2095C>T (p.Pro699Ser)	EPB41 (P435S +11 more)	Single nucleotide variant (missense variant)	EPB41-related disorder	GUncertain significance
Select item 2633316	NM_001376013.1(EPB41):c.1411C>T (p.Arg471Ter)	EPB41 (R262* +2 more)	Single nucleotide variant (nonsense)	EPB41-related disorder	GPathogenic
Select item 2631490	NM_001376013.1(EPB41):c.1652C>A (p.Ser551Ter)	EPB41 (S341* +4 more)	Single nucleotide variant (nonsense)	EPB41-related disorder	GLikely pathogenic
Select item 2599276	NM_001376013.1(EPB41):c.950G>A (p.Arg317His)	EPB41 (R317H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585056	NM_001376013.1(EPB41):c.415C>T (p.Leu139Phe)	EPB41 (L139F)	Single nucleotide variant (missense variant +1 more)	Elliptocytosis 1	GUncertain significance
Select item 2579947	NM_001376013.1(EPB41):c.730A>C (p.Asn244His)	EPB41 (N244H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2568729	NM_001376013.1(EPB41):c.997A>G (p.Ile333Val)	EPB41 (I124V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543005	NM_001376013.1(EPB41):c.2138C>T (p.Pro713Leu)	EPB41 (P449L +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498399	NM_001376013.1(EPB41):c.1593C>T (p.Phe531=)	EPB41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2493921	NM_001376013.1(EPB41):c.1637C>T (p.Ala546Val)	EPB41 (A337V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2488107	NM_001376013.1(EPB41):c.2482A>G (p.Ile828Val)	EPB41 (I828V +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483604	NM_001376013.1(EPB41):c.824T>C (p.Val275Ala)	EPB41 (V66A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446433	NM_001376013.1(EPB41):c.768G>A (p.Trp256Ter)	EPB41 (W256* +1 more)	Single nucleotide variant (nonsense +1 more)	Elliptocytosis 1	GLikely pathogenic
Select item 2444134	NM_001376013.1(EPB41):c.1604C>T (p.Ala535Val)	EPB41 (A326V +2 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1 +1 more	GUncertain significance
Select item 2441253	NM_001376013.1(EPB41):c.1412G>A (p.Arg471Gln)	EPB41 (R262Q +2 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1	GUncertain significance
Select item 2441252	NM_001376013.1(EPB41):c.2566C>T (p.His856Tyr)	EPB41 (H580Y +7 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1	GUncertain significance
Select item 2441251	NM_001376013.1(EPB41):c.763A>G (p.Ile255Val)	EPB41 (I255V +1 more)	Single nucleotide variant (missense variant +1 more)	Elliptocytosis 1	GUncertain significance
Select item 2441250	NM_001376013.1(EPB41):c.938T>C (p.Ile313Thr)	EPB41 (I104T +2 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1	GUncertain significance
Select item 2441249	NM_001376013.1(EPB41):c.1838C>A (p.Ala613Glu)	EPB41 (A403E +4 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1	GUncertain significance
Select item 2441248	NM_001376013.1(EPB41):c.979T>A (p.Leu327Ile)	EPB41 (L118I +2 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1	GUncertain significance
Select item 2441247	NM_001376013.1(EPB41):c.2536C>G (p.Pro846Ala)	EPB41 (P570A +7 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1	GUncertain significance
Select item 2441246	NM_001376013.1(EPB41):c.832G>A (p.Val278Ile)	EPB41 (V243I +2 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1 +1 more	GLikely benign
Select item 2441244	NM_001376013.1(EPB41):c.2438A>G (p.Glu813Gly)	EPB41 (E537G +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2441243	NM_001376013.1(EPB41):c.1441G>A (p.Val481Ile)	EPB41 (V272I +2 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1 +1 more	GUncertain significance
Select item 2440049	NM_001376013.1(EPB41):c.1330dup (p.Arg444fs)	EPB41 (R235fs +2 more)	Duplication (frameshift variant)	Elliptocytosis 1	GLikely pathogenic
Select item 2428654	NM_001376013.1(EPB41):c.2240A>G (p.Lys747Arg)	EPB41 (K484R +7 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1	GUncertain significance
Select item 2428563	NM_001376013.1(EPB41):c.263A>G (p.Lys88Arg)	EPB41 (K88R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2387601	NM_001376013.1(EPB41):c.2231A>G (p.Asn744Ser)	EPB41 (N481S +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317389	NM_001376013.1(EPB41):c.1684C>T (p.Pro562Ser)	EPB41 (P562S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304069	NM_001376013.1(EPB41):c.1724T>C (p.Leu575Pro)	EPB41 (L366P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2296366	NM_001376013.1(EPB41):c.2153A>T (p.Asn718Ile)	EPB41 (N476I +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258454	NM_001376013.1(EPB41):c.860A>G (p.Lys287Arg)	EPB41 (K252R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252727	NM_001376013.1(EPB41):c.1796A>G (p.Glu599Gly)	EPB41 (E598G +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204927	NM_001376013.1(EPB41):c.2480A>C (p.Asp827Ala)	EPB41 (D604A +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2194273	NM_001376013.1(EPB41):c.731A>G (p.Asn244Ser)	EPB41 (N35S +1 more)	Single nucleotide variant (missense variant +1 more)	Elliptocytosis 1 +2 more	GUncertain significance
Select item 2193168	NM_001376013.1(EPB41):c.896A>G (p.Asp299Gly)	EPB41 (D264G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2080323	NM_001376013.1(EPB41):c.2285C>T (p.Thr762Ile)	EPB41 (T673I +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2052068	NM_001376013.1(EPB41):c.1800C>T (p.Asp600=)	EPB41	Single nucleotide variant (synonymous variant)	Elliptocytosis 1 +1 more	GLikely benign
Select item 2045835	NM_001376013.1(EPB41):c.1039G>A (p.Val347Met)	EPB41 (V347M +2 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1 +2 more	GUncertain significance
Select item 1988104	NM_001376013.1(EPB41):c.682-14G>A	EPB41	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1962992	NM_001376013.1(EPB41):c.1612C>A (p.Arg538=)	EPB41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1961095	NM_001376013.1(EPB41):c.113C>G (p.Ser38Cys)	EPB41 (S38C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1951469	NM_001376013.1(EPB41):c.1660C>T (p.Arg554Ter)	EPB41 (R344* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1938054	NM_001376013.1(EPB41):c.2030A>G (p.Glu677Gly)	EPB41 (E413G +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1905593	NM_001376013.1(EPB41):c.1845+15C>T	EPB41	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900971	NM_001376013.1(EPB41):c.529G>A (p.Glu177Lys)	EPB41 (E177K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1800742	NM_001376013.1(EPB41):c.2063T>G (p.Leu688Arg)	EPB41 (L424R +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693853	NM_001376013.1(EPB41):c.2443C>T (p.Arg815Cys)	EPB41 (R539C +7 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1693850	NM_001376013.1(EPB41):c.1866G>A (p.Glu622=)	EPB41	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1693849	NM_001376013.1(EPB41):c.1831A>G (p.Thr611Ala)	EPB41 (T401A +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1608342	NM_001376013.1(EPB41):c.774C>T (p.Asn258=)	EPB41	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1526540	GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121)	GPR3, PTPRU +66 more	Copy number gain	not specified	GUncertain significance
Select item 1476745	NM_001376013.1(EPB41):c.776C>T (p.Ala259Val)	EPB41 (A259V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance

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