"Ambry Genetics"[submitter] AND "S1PR1"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3157415	NM_001400.5(S1PR1):c.44C>T (p.Ser15Leu)	S1PR1 (S15L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462641	NM_001400.5(S1PR1):c.192C>G (p.Ile64Met)	S1PR1 (I64M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549466	NM_001400.5(S1PR1):c.329A>T (p.Tyr110Phe)	S1PR1 (Y110F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621726	NM_001400.5(S1PR1):c.430A>G (p.Ile144Val)	S1PR1 (I144V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285462	NM_001400.5(S1PR1):c.553A>G (p.Ile185Val)	S1PR1 (I185V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315954	NM_001400.5(S1PR1):c.647C>G (p.Ser216Cys)	S1PR1 (S216C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333853	NM_001400.5(S1PR1):c.719A>G (p.Asn240Ser)	S1PR1 (N240S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518779	NM_001400.5(S1PR1):c.1000G>A (p.Gly334Arg)	S1PR1 (G334R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534000	NM_001400.5(S1PR1):c.1004A>G (p.Asp335Gly)	S1PR1 (D335G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276643	NM_001400.5(S1PR1):c.1032C>G (p.Ile344Met)	S1PR1 (I344M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance