ClinVar for MedGen (Select 394841) - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 2683706	NM_001376013.1(EPB41):c.172G>A (p.Gly58Arg)	EPB41 (G58R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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 (5 prime UTR variant +1 more)	Elliptocytosis 1 +1 more	GConflicting classifications of pathogenicity
Select item 2194273	NM_001376013.1(EPB41):c.731A>G (p.Asn244Ser)	EPB41 (N35S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2080323	NM_001376013.1(EPB41):c.2285C>T (p.Thr762Ile)	EPB41 (T673I +7 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1 +1 more	GUncertain significance
Select item 2052068	NM_001376013.1(EPB41):c.1800C>T (p.Asp600=)	EPB41	Single nucleotide variant (synonymous variant)	not provided +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)	Inborn genetic diseases +2 more	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 1476745	NM_001376013.1(EPB41):c.776C>T (p.Ala259Val)	EPB41 (A259V +1 more)	Single nucleotide variant (missense variant +1 more)	Elliptocytosis 1 +1 more	GUncertain significance
Select item 1331062	NM_001376013.1(EPB41):c.2229C>T (p.Ala743=)	EPB41	Single nucleotide variant (synonymous variant)	Elliptocytosis 1	GLikely benign
Select item 1331003	NM_001376013.1(EPB41):c.2184+36G>A	EPB41	Single nucleotide variant (3 prime UTR variant +1 more)	Elliptocytosis 1	GLikely benign
Select item 1330981	NM_001376013.1(EPB41):c.1700G>A (p.Gly567Asp)	EPB41 (G357D +4 more)	Single nucleotide variant (missense variant)	EPB41-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1330707	NM_001376013.1(EPB41):c.2065A>T (p.Lys689Ter)	EPB41 (K425* +11 more)	Single nucleotide variant (nonsense)	Elliptocytosis 1	GLikely pathogenic
Select item 1330438	NM_001376013.1(EPB41):c.426C>T (p.Asp142=)	EPB41	Single nucleotide variant (synonymous variant +1 more)	Elliptocytosis 1	GLikely benign
Select item 1330427	NM_001376013.1(EPB41):c.1670G>A (p.Arg557Gln)	EPB41 (R347Q +4 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1	GUncertain significance
Select item 1330393	NM_001376013.1(EPB41):c.1102A>G (p.Met368Val)	EPB41 (M159V +2 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1	GUncertain significance
Select item 1324334	NM_001376013.1(EPB41):c.1175del (p.Lys392fs)	EPB41 (K183fs +2 more)	Deletion (frameshift variant)	Elliptocytosis 1	GLikely pathogenic
Select item 1324333	NM_001376013.1(EPB41):c.712C>T (p.Arg238Ter)	EPB41 (R238* +1 more)	Single nucleotide variant (nonsense +1 more)	Elliptocytosis 1	GLikely pathogenic
Select item 1163136	NM_001376013.1(EPB41):c.1744dup (p.Thr582fs)	EPB41 (T372fs +4 more)	Duplication (frameshift variant)	Elliptocytosis 1 +1 more	GLikely pathogenic
Select item 1163135	NM_001376013.1(EPB41):c.1505C>T (p.Ala502Val)	EPB41 (A293V +2 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1 +2 more	GUncertain significance
Select item 994251	NM_001376013.1(EPB41):c.120A>G (p.Gln40=)	EPB41	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 993792	NM_001376013.1(EPB41):c.2577C>T (p.Thr859=)	EPB41	Single nucleotide variant (synonymous variant)	Elliptocytosis 1 +1 more	GBenign
Select item 993382	NM_001376013.1(EPB41):c.2314-19G>C	EPB41	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 811677	NM_001376013.1(EPB41):c.1464-20T>C	EPB41	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 811532	NM_001376013.1(EPB41):c.640G>A (p.Val214Ile)	EPB41 (V214I +1 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1 +1 more	GConflicting classifications of pathogenicity
Select item 811463	NM_001376013.1(EPB41):c.1187A>G (p.Tyr396Cys)	EPB41 (Y187C +2 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1 +1 more	GUncertain significance
Select item 811351	NM_001376013.1(EPB41):c.2021G>A (p.Ser674Asn)	EPB41 (S410N +11 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1	GUncertain significance
Select item 811014	NM_001376013.1(EPB41):c.24G>A (p.Val8=)	EPB41	Single nucleotide variant (synonymous variant +1 more)	Elliptocytosis 1 +2 more	GBenign
Select item 804342	NM_001376013.1(EPB41):c.1944+1G>C	EPB41	Single nucleotide variant (intron variant +1 more)	Elliptocytosis 1	GLikely pathogenic
Select item 711837	NM_001376013.1(EPB41):c.2019G>A (p.Lys673=)	EPB41	Single nucleotide variant (synonymous variant)	Elliptocytosis 1 +1 more	GBenign
Select item 618089	NM_001376013.1(EPB41):c.871C>T (p.Pro291Ser)	EPB41 (P82S +2 more)	Single nucleotide variant (missense variant)	Elliptocytosis 1 +1 more	GBenign/Likely benign
Select item 585090	NM_001376013.1(EPB41):c.2047G>C (p.Ala683Pro)	EPB41 (A441P +11 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 16715	NM_001376013.1(EPB41):c.629T>C (p.Met210Thr)	EPB41 (M1T +1 more)	Single nucleotide variant (missense variant +1 more)	Elliptocytosis 1	GPathogenic
Select item 16714	NM_001376013.1(EPB41):c.629T>G (p.Met210Arg)	EPB41 (M1R +1 more)	Single nucleotide variant (missense variant +1 more)	Elliptocytosis 1	GPathogenic
Select item 16713	NM_004437.3(EPB41):c.1219_1458del	EPB41	Deletion	Elliptocytosis 1	GPathogenic
Select item 16712	NM_004437.3(EPB41):c.1219_1587del	EPB41	Deletion	Elliptocytosis 1	GPathogenic
Select item 16711	NM_203342.2(EPB41):c.-159_159del	EPB41	Deletion	Elliptocytosis 1	GPathogenic

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Items: 59