"Ambry Genetics"[submitter] AND "SEPHS1"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3317460	NM_012247.5(SEPHS1):c.1118T>C (p.Ile373Thr)	SEPHS1 (I302T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317459	NM_012247.5(SEPHS1):c.947C>G (p.Thr316Ser)	SEPHS1 (T249S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2273256	NM_012247.5(SEPHS1):c.931G>A (p.Gly311Ser)	SEPHS1 (G244S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2604336	NM_012247.5(SEPHS1):c.824C>G (p.Ala275Gly)	SEPHS1 (A208G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2315391	NM_012247.5(SEPHS1):c.775A>T (p.Asn259Tyr)	SEPHS1 (N259Y +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3160001	NM_012247.5(SEPHS1):c.644T>A (p.Leu215Gln)	SEPHS1 (L148Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160000	NM_012247.5(SEPHS1):c.605C>T (p.Pro202Leu)	SEPHS1 (P202L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543289	NM_012247.5(SEPHS1):c.548A>G (p.Asn183Ser)	SEPHS1 (N183S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372249	NM_012247.5(SEPHS1):c.475G>A (p.Val159Ile)	SEPHS1 (V159I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407828	NM_012247.5(SEPHS1):c.451G>A (p.Ala151Thr)	SEPHS1 (A151T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159999	NM_012247.5(SEPHS1):c.404G>C (p.Arg135Thr)	SEPHS1 (R135T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331555	NM_012247.5(SEPHS1):c.389A>G (p.Asn130Ser)	SEPHS1 (N130S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277632	NM_012247.5(SEPHS1):c.95A>G (p.Lys32Arg)	SEPHS1 (K32R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3160002	NM_012247.5(SEPHS1):c.79A>G (p.Lys27Glu)	SEPHS1 (K27E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2286196	NM_012247.5(SEPHS1):c.26C>T (p.Pro9Leu)	SEPHS1 (P9L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance