"Ambry Genetics"[submitter] AND "LOC130060033"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2371406	NM_001014985.3(GLTPD2):c.411G>T (p.Glu137Asp)	LOC130060033, GLTPD2 (E173D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466597	NM_001014985.3(GLTPD2):c.479G>A (p.Arg160Lys)	GLTPD2, LOC130060033 (R196K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251226	NM_001014985.3(GLTPD2):c.509C>T (p.Ala170Val)	GLTPD2, LOC130060033 (A170V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403332	NM_001014985.3(GLTPD2):c.538T>C (p.Ser180Pro)	GLTPD2, LOC130060033 (S180P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218895	NM_001014985.3(GLTPD2):c.560A>G (p.His187Arg)	GLTPD2, LOC130060033 (H187R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277209	NM_001014985.3(GLTPD2):c.598G>A (p.Val200Met)	GLTPD2, LOC130060033 (V236M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345658	NM_001014985.3(GLTPD2):c.652T>A (p.Tyr218Asn)	GLTPD2, LOC130060033 (Y218N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552229	NM_001014985.3(GLTPD2):c.659C>A (p.Ala220Glu)	GLTPD2, LOC130060033 (A220E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356350	NM_001014985.3(GLTPD2):c.730C>T (p.Arg244Cys)	GLTPD2, LOC130060033 (R244C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484871	NM_001014985.3(GLTPD2):c.769G>C (p.Glu257Gln)	GLTPD2, LOC130060033 (E257Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2459228	NM_001014985.3(GLTPD2):c.851A>G (p.Glu284Gly)	GLTPD2, LOC130060033 (E284G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance