Related gene-specific medical variations for Gene (Select 2035) - ClinVar

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Items: 28

	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 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	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 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 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 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 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 688998	GRCh37/hg19 1p35.3(chr1:29354148-29374697)x1	EPB41	Copy number loss	not provided	GUncertain significance
Select item 618092	NM_001376013.1(EPB41):c.1222G>A (p.Gly408Arg)	EPB41 (G199R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 618090	NM_001376013.1(EPB41):c.827G>A (p.Arg276His)	EPB41 (R67H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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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Links from Gene

Items: 28