"PreventionGenetics, part of Exact Sciences"[submitter] AND "EPB42"[ge - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2041913	NM_001114134.2(EPB42):c.2044G>A (p.Val682Ile)	EPB42 (V682I +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5 +2 more	GConflicting classifications of pathogenicity
Select item 316007	NM_001114134.2(EPB42):c.2032A>G (p.Asn678Asp)	EPB42 (N708D +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3050884	NM_001114134.2(EPB42):c.1912A>G (p.Arg638Gly)	EPB42 (R638G +1 more)	Single nucleotide variant (missense variant)	EPB42-related disorder	GLikely benign
Select item 886392	NM_001114134.2(EPB42):c.1602G>A (p.Thr534=)	EPB42	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 807229	NM_001114134.2(EPB42):c.1387G>A (p.Gly463Ser)	EPB42 (G493S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 255150	NM_001114134.2(EPB42):c.1319-13T>G	EPB42	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 255149	NM_001114134.2(EPB42):c.1318+4C>T	EPB42	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 255148	NM_001114134.2(EPB42):c.1279C>T (p.Arg427Cys)	EPB42 (R457C +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 255147	NM_001114134.2(EPB42):c.1032T>C (p.Asp344=)	EPB42	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 255158	NM_001114134.2(EPB42):c.894C>T (p.Thr298=)	EPB42	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 255157	NM_001114134.2(EPB42):c.833-4A>G	EPB42	Single nucleotide variant (intron variant)	Hereditary spherocytosis type 5 +2 more	GBenign
Select item 255155	NM_001114134.2(EPB42):c.654+7G>A	EPB42	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 255154	NM_001114134.2(EPB42):c.453T>C (p.Asn151=)	EPB42	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 5 +2 more	GConflicting classifications of pathogenicity
Select item 13233	NM_000119.2(EPB42):c.424G>A (p.Ala142Thr)	EPB42 (A142T +1 more)	Single nucleotide variant (missense variant)	EPB42-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 255153	NM_001114134.2(EPB42):c.330G>A (p.Ala110=)	EPB42	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 316025	NM_001114134.2(EPB42):c.210C>T (p.Ser70=)	EPB42	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 5 +1 more	GConflicting classifications of pathogenicity
Select item 255151	NM_001114134.2(EPB42):c.186T>G (p.Thr62=)	EPB42	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 255156	NM_001114134.2(EPB42):c.10+79G>A	EPB42 (S30N)	Single nucleotide variant (missense variant +1 more)	Hereditary spherocytosis type 5 +2 more	GConflicting classifications of pathogenicity
Select item 255152	NM_001114134.2(EPB42):c.10+19C>T	EPB42 (S10L)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 3047608	NM_001114134.2(EPB42):c.-3A>G	EPB42	Single nucleotide variant (5 prime UTR variant)	EPB42-related disorder	GLikely benign

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Items: 20