"Ambry Genetics"[submitter] AND "PTAR1"[gene] - ClinVar - NCBI

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

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2465256	NM_001099666.2(PTAR1):c.1202G>A (p.Ser401Asn)	PTAR1 (S400N +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2290184	NM_001099666.2(PTAR1):c.953A>G (p.His318Arg)	PTAR1 (H318R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2369084	NM_001099666.2(PTAR1):c.949C>T (p.Arg317Trp)	PTAR1 (A215V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2489829	NM_001099666.2(PTAR1):c.877G>A (p.Glu293Lys)	PTAR1 (E214K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2596919	NM_001099666.2(PTAR1):c.812C>T (p.Pro271Leu)	PTAR1 (P192L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2485050	NM_001099666.2(PTAR1):c.784C>T (p.Pro262Ser)	PTAR1 (P183S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2476097	NM_001099666.2(PTAR1):c.754G>A (p.Val252Met)	PTAR1 (V173M +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2326304	NM_001099666.2(PTAR1):c.89A>G (p.Asp30Gly)	PTAR1 (D30G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2219469	NM_001099666.2(PTAR1):c.35T>G (p.Val12Gly)	LOC130001871, PTAR1 (V12G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2523875	NM_001099666.2(PTAR1):c.26C>T (p.Ala9Val)	LOC130001871, PTAR1 (A9V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance