PTAR1[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 18

	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)	not specified	GUncertain significance
Select item 3311076	NM_001099666.2(PTAR1):c.1145G>A (p.Arg382Gln)	PTAR1 (R381Q +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3220561	NM_001099666.2(PTAR1):c.1006A>G (p.Met336Val)	PTAR1 (M256V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3220560	NM_001099666.2(PTAR1):c.1003G>A (p.Ala335Thr)	PTAR1 (A335T +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3220568	NM_001099666.2(PTAR1):c.828A>C (p.Glu276Asp)	PTAR1 (E197D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3220567	NM_001099666.2(PTAR1):c.718C>T (p.Arg240Cys)	PTAR1 (R161C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3220566	NM_001099666.2(PTAR1):c.667A>G (p.Thr223Ala)	PTAR1 (T223A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3311079	NM_001099666.2(PTAR1):c.524G>A (p.Arg175Gln)	PTAR1 (R175Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220565	NM_001099666.2(PTAR1):c.521A>G (p.Gln174Arg)	PTAR1 (Q174R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311078	NM_001099666.2(PTAR1):c.221T>C (p.Leu74Ser)	PTAR1 (L74S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220562	NM_001099666.2(PTAR1):c.109T>G (p.Cys37Gly)	PTAR1 (C37G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326304	NM_001099666.2(PTAR1):c.89A>G (p.Asp30Gly)	PTAR1 (D30G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance