"Ambry Genetics"[submitter] AND "NCEH1"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2519785	NM_020792.6(NCEH1):c.1184G>A (p.Arg395Gln)	NCEH1 (R262Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307020	NM_020792.6(NCEH1):c.1166A>G (p.Asn389Ser)	NCEH1 (N256S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619253	NM_020792.6(NCEH1):c.1102G>A (p.Val368Met)	NCEH1 (V376M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463117	NM_020792.6(NCEH1):c.1079G>A (p.Arg360His)	NCEH1 (R227H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298885	NM_020792.6(NCEH1):c.967C>T (p.Arg323Cys)	NCEH1 (R331C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2332800	NM_020792.6(NCEH1):c.941A>G (p.Gln314Arg)	NCEH1 (Q181R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282335	NM_020792.6(NCEH1):c.854G>A (p.Arg285His)	NCEH1 (R152H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407140	NM_020792.6(NCEH1):c.802G>A (p.Val268Ile)	NCEH1 (V135I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2236283	NM_020792.6(NCEH1):c.776A>G (p.Asn259Ser)	NCEH1 (N126S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239101	NM_020792.6(NCEH1):c.739G>A (p.Val247Ile)	NCEH1 (V114I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259257	NM_020792.6(NCEH1):c.733C>T (p.Arg245Cys)	NCEH1 (R112C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488677	NM_020792.6(NCEH1):c.533A>G (p.Tyr178Cys)	NCEH1 (Y186C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290575	NM_020792.6(NCEH1):c.382G>C (p.Asp128His)	NCEH1 (D128H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2558020	NM_020792.6(NCEH1):c.322A>G (p.Ser108Gly)	NCEH1 (S108G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2588502	NM_020792.6(NCEH1):c.304G>A (p.Glu102Lys)	NCEH1 (E102K)	Single nucleotide variant (intron variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2210019	NM_020792.6(NCEH1):c.155A>G (p.Tyr52Cys)	NCEH1 (Y52C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2281312	NM_020792.6(NCEH1):c.-29A>G	LOC112935910, NCEH1	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2474810	NM_020792.6(NCEH1):c.-66G>C	LOC112935910, NCEH1	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2282086	NM_001146276.1(NCEH1):c.7A>C (p.Ser3Arg)	NCEH1, LOC112935910 (S3R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance