"Ambry Genetics"[submitter] AND "CD300E"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3140520	NM_181449.3(CD300E):c.529G>A (p.Val177Met)	CD300E, LOC101928343 (V177M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407261	NM_181449.3(CD300E):c.503G>A (p.Arg168Gln)	CD300E, LOC101928343 (R168Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351332	NM_181449.3(CD300E):c.478G>A (p.Val160Met)	CD300E, LOC101928343 (V160M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518907	NM_181449.3(CD300E):c.450C>A (p.Asn150Lys)	CD300E, LOC101928343 (N150K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242408	NM_181449.3(CD300E):c.379G>A (p.Val127Ile)	CD300E, LOC101928343 (V127I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140519	NM_181449.3(CD300E):c.167C>T (p.Thr56Met)	CD300E, LOC101928343 (T56M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285855	NM_181449.3(CD300E):c.152G>T (p.Arg51Leu)	CD300E, LOC101928343 (R51L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589880	NM_181449.3(CD300E):c.148T>C (p.Cys50Arg)	CD300E, LOC101928343 (C50R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140517	NM_181449.3(CD300E):c.115G>A (p.Glu39Lys)	CD300E, LOC101928343 (E39K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462629	NM_181449.3(CD300E):c.83C>T (p.Ala28Val)	LOC101928343, CD300E (A28V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2560067	NM_181449.3(CD300E):c.48G>C (p.Leu16Phe)	CD300E, LOC101928343 (L16F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance