"PreventionGenetics, part of Exact Sciences"[submitter] AND "EPB41"[ge - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 3051804	NM_001376013.1(EPB41):c.681+9G>A	EPB41	Single nucleotide variant (intron variant)	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 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 1330981	NM_001376013.1(EPB41):c.1700G>A (p.Gly567Asp)	EPB41 (G357D +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 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 3034242	NM_001376013.1(EPB41):c.2099G>A (p.Arg700Gln)	EPB41 (R436Q +11 more)	Single nucleotide variant (missense variant)	EPB41-related disorder	GLikely benign