"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "EPB42"[gene] - ClinVar

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Items: 37

	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)	not provided +1 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 +2 more	GConflicting classifications of pathogenicity
Select item 884367	NM_001114134.2(EPB42):c.1964C>T (p.Thr655Met)	EPB42 (T655M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1163377	NM_001114134.2(EPB42):c.1747A>G (p.Ile583Val)	EPB42 (I583V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441260	NM_001114134.2(EPB42):c.1696G>A (p.Ala566Thr)	EPB42 (A566T +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5 +2 more	GUncertain significance
Select item 1163378	NM_001114134.2(EPB42):c.1673A>G (p.Glu558Gly)	EPB42 (E558G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 776883	NM_001114134.2(EPB42):c.1672G>A (p.Glu558Lys)	EPB42 (E558K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1163379	NM_001114134.2(EPB42):c.1667C>T (p.Pro556Leu)	EPB42 (P556L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 132637	NM_001114134.2(EPB42):c.1609G>A (p.Ala537Thr)	EPB42 (A567T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3380267	NM_001114134.2(EPB42):c.1601C>T (p.Thr534Met)	EPB42 (T534M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683297	NM_001114134.2(EPB42):c.1564C>A (p.Leu522Ile)	EPB42 (L522I +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5 +1 more	GUncertain significance
Select item 2683298	NM_001114134.2(EPB42):c.1506G>T (p.Glu502Asp)	EPB42 (E502D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693639	NM_001114134.2(EPB42):c.1487C>T (p.Thr496Met)	EPB42 (T496M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3380268	NM_001114134.2(EPB42):c.1408G>A (p.Glu470Lys)	EPB42 (E470K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 807229	NM_001114134.2(EPB42):c.1387G>A (p.Gly463Ser)	EPB42 (G493S +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5 +3 more	GConflicting classifications of pathogenicity
Select item 255148	NM_001114134.2(EPB42):c.1279C>T (p.Arg427Cys)	EPB42 (R457C +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5 +2 more	GConflicting classifications of pathogenicity
Select item 811192	NM_001114134.2(EPB42):c.1124C>T (p.Thr375Met)	EPB42 (T375M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1330540	NM_001114134.2(EPB42):c.1058C>T (p.Ala353Val)	EPB42 (A353V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 887393	NM_001114134.2(EPB42):c.1041G>T (p.Gln347His)	EPB42 (Q347H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1163380	NM_001114134.2(EPB42):c.971+8_971+9delinsAA	EPB42	Indel (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 132635	NM_001114134.2(EPB42):c.859C>T (p.Arg287Cys)	EPB42 (R317C +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5 +2 more	GConflicting classifications of pathogenicity
Select item 3380269	NM_001114134.2(EPB42):c.776G>A (p.Arg259Gln)	EPB42 (R259Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683299	NM_001114134.2(EPB42):c.736C>G (p.Arg246Gly)	EPB42 (R246G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163381	NM_001114134.2(EPB42):c.619_628del (p.Gln207fs)	EPB42 (Q207fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1163092	NM_001114134.2(EPB42):c.620A>G (p.Gln207Arg)	EPB42 (Q207R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 618628	NM_001114134.2(EPB42):c.581G>A (p.Arg194His)	EPB42 (R224H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1443397	NM_001114134.2(EPB42):c.556G>C (p.Gly186Arg)	EPB42 (G186R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3380270	NM_001114134.2(EPB42):c.468G>C (p.Met156Ile)	EPB42 (M156I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693641	NM_001114134.2(EPB42):c.421T>C (p.Trp141Arg)	EPB42 (W141R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163093	NM_001114134.2(EPB42):c.308C>A (p.Thr103Asn)	EPB42 (T103N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1163094	NM_001114134.2(EPB42):c.293_300dup (p.Ser101fs)	EPB42 (S101fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
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 2683300	NM_001114134.2(EPB42):c.89G>A (p.Arg30His)	EPB42 (R30H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163096	NM_001114134.2(EPB42):c.85C>T (p.Arg29Trp)	EPB42 (R29W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 316029	NM_001114134.2(EPB42):c.10+60C>T	EPB42 (P24S)	Single nucleotide variant (missense variant +1 more)	Hereditary spherocytosis type 5 +1 more	GConflicting classifications of pathogenicity
Select item 1693642	NM_001114134.2(EPB42):c.10+51G>A	EPB42 (A21T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Items: 37