"Ambry Genetics"[submitter] AND "EPB42"[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3089457	NM_001114134.2(EPB42):c.2062G>A (p.Glu688Lys)	EPB42 (E688K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2327013	NM_001114134.2(EPB42):c.2014A>G (p.Met672Val)	EPB42 (M672V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296499	NM_001114134.2(EPB42):c.1988G>A (p.Arg663Lys)	EPB42 (R663K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275792	NM_001114134.2(EPB42):c.1958A>T (p.Gln653Leu)	EPB42 (Q683L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537007	NM_001114134.2(EPB42):c.1862G>T (p.Cys621Phe)	EPB42 (C651F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2441259	NM_001114134.2(EPB42):c.1795G>A (p.Glu599Lys)	EPB42 (E599K +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5 +1 more	GUncertain significance
Select item 3089455	NM_001114134.2(EPB42):c.1788G>T (p.Glu596Asp)	EPB42 (E626D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089454	NM_001114134.2(EPB42):c.1744G>T (p.Asp582Tyr)	EPB42 (D612Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3089453	NM_001114134.2(EPB42):c.1670C>T (p.Pro557Leu)	EPB42 (P557L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 886391	NM_001114134.2(EPB42):c.1636G>A (p.Gly546Ser)	EPB42 (G576S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 811729	NM_001114134.2(EPB42):c.1532T>C (p.Ile511Thr)	EPB42 (I511T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 2348503	NM_001114134.2(EPB42):c.1386C>G (p.Asn462Lys)	EPB42 (N492K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089452	NM_001114134.2(EPB42):c.1372C>T (p.Arg458Cys)	EPB42 (R488C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3089451	NM_001114134.2(EPB42):c.1312C>A (p.Pro438Thr)	EPB42 (P438T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 618093	NM_001114134.2(EPB42):c.1288G>A (p.Asp430Asn)	EPB42 (D460N +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5 +1 more	GUncertain significance
Select item 2348551	NM_001114134.2(EPB42):c.1280G>A (p.Arg427His)	EPB42 (R457H +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5 +1 more	GConflicting classifications of pathogenicity
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 316013	NM_001114134.2(EPB42):c.1265G>T (p.Gly422Val)	EPB42 (G452V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 316016	NM_001114134.2(EPB42):c.1165A>C (p.Ile389Leu)	EPB42 (I419L +1 more)	Single nucleotide variant (missense variant)	not provided +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 3089450	NM_001114134.2(EPB42):c.976T>C (p.Phe326Leu)	EPB42 (F356L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286059	NM_001114134.2(EPB42):c.962G>A (p.Gly321Asp)	EPB42 (G321D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2441258	NM_001114134.2(EPB42):c.955C>A (p.Gln319Lys)	EPB42 (Q319K +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5 +1 more	GUncertain significance
Select item 2224692	NM_001114134.2(EPB42):c.872C>T (p.Thr291Met)	EPB42 (T321M +1 more)	Single nucleotide variant (missense variant)	Hereditary spherocytosis type 5 +1 more	GUncertain significance
Select item 887581	NM_001114134.2(EPB42):c.860G>A (p.Arg287His)	EPB42 (R287H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2333564	NM_001114134.2(EPB42):c.797G>A (p.Gly266Asp)	EPB42 (G296D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275794	NM_001114134.2(EPB42):c.755T>C (p.Leu252Pro)	EPB42 (L252P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2456931	NM_001114134.2(EPB42):c.580C>T (p.Arg194Cys)	EPB42 (R224C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278349	NM_001114134.2(EPB42):c.571C>A (p.Leu191Ile)	EPB42 (L221I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275795	NM_001114134.2(EPB42):c.553G>A (p.Glu185Lys)	EPB42 (E215K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295187	NM_001114134.2(EPB42):c.527C>A (p.Ala176Glu)	EPB42 (A206E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3089459	NM_001114134.2(EPB42):c.505G>A (p.Gly169Ser)	EPB42 (G169S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259803	NM_001114134.2(EPB42):c.468G>A (p.Met156Ile)	EPB42 (M156I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275793	NM_001114134.2(EPB42):c.439G>A (p.Val147Met)	EPB42 (V147M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309844	NM_001114134.2(EPB42):c.227A>G (p.Gln76Arg)	EPB42 (Q76R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275791	NM_001114134.2(EPB42):c.151G>A (p.Ala51Thr)	EPB42 (A51T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618715	NM_001114134.2(EPB42):c.149G>A (p.Arg50His)	EPB42 (R50H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2406107	NM_001114134.2(EPB42):c.136C>G (p.Arg46Gly)	EPB42 (R46G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3089458	NM_001114134.2(EPB42):c.10+15C>A	EPB42 (R9S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2326165	NM_001114134.2(EPB42):c.10+14G>C	EPB42 (Q8H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 45