"GeneDx"[submitter] AND "EPB42"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1266210	NM_001114134.2(EPB42):c.1914-136del	EPB42	Deletion (intron variant)	not provided	GBenign
Select item 1283031	NM_001114134.2(EPB42):c.1780-116_1780-115del	EPB42	Deletion (intron variant)	not provided	GBenign
Select item 1231539	NM_001114134.2(EPB42):c.1779+191C>A	EPB42	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262595	NM_001114134.2(EPB42):c.1779+101A>G	EPB42	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256739	NM_001114134.2(EPB42):c.1619-264A>T	EPB42	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289517	NM_001114134.2(EPB42):c.1619-323A>G	EPB42	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269153	NM_001114134.2(EPB42):c.1319-49A>G	EPB42	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1050524	NM_001114134.2(EPB42):c.1278C>A (p.Asp426Glu)	EPB42 (D426E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 811114	NM_001114134.2(EPB42):c.953G>T (p.Gly318Val)	EPB42 (G318V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 255157	NM_001114134.2(EPB42):c.833-4A>G	EPB42	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1182793	NM_001114134.2(EPB42):c.833-94A>G	EPB42	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262963	NM_001114134.2(EPB42):c.654+231G>A	EPB42	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178964	NM_001114134.2(EPB42):c.550-231T>C	EPB42	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 255153	NM_001114134.2(EPB42):c.330G>A (p.Ala110=)	EPB42	Single nucleotide variant (synonymous variant)	Hereditary spherocytosis type 5 +2 more	GBenign
Select item 1163095	NM_001114134.2(EPB42):c.256G>T (p.Asp86Tyr)	EPB42 (D116Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1180940	NM_001114134.2(EPB42):c.197-280_197-279insGGC	EPB42	Insertion (intron variant)	not provided	GBenign
Select item 1183842	NM_001114134.2(EPB42):c.197-282del	EPB42	Deletion (intron variant)	not provided	GBenign
Select item 1318834	NM_001114134.2(EPB42):c.106G>A (p.Gly36Arg)	EPB42 (G36R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1182233	NM_001114134.2(EPB42):c.11-79C>G	EPB42	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240864	NM_001114134.2(EPB42):c.10+230G>C	EPB42	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266636	NM_001114134.2(EPB42):c.10+157dup	EPB42	Duplication (intron variant)	not provided	GBenign
Select item 1278961	NM_001114134.2(EPB42):c.10+166del	EPB42	Deletion (intron variant)	not provided	GBenign
Select item 316030	NM_001114134.2(EPB42):c.-51T>C	EPB42	Single nucleotide variant (5 prime UTR variant)	Hereditary spherocytosis type 5 +1 more	GBenign

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Items: 23