"Ambry Genetics"[submitter] AND "TPGS2"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3328276	NM_015476.4(TPGS2):c.787A>C (p.Lys263Gln)	TPGS2 (K220Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263714	NM_015476.4(TPGS2):c.736C>G (p.Leu246Val)	TPGS2 (L203V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181535	NM_015476.4(TPGS2):c.688T>C (p.Tyr230His)	TPGS2 (Y195H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3328275	NM_015476.4(TPGS2):c.482A>G (p.Lys161Arg)	TPGS2 (K113R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181534	NM_015476.4(TPGS2):c.469T>A (p.Cys157Ser)	TPGS2 (C122S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181533	NM_015476.4(TPGS2):c.452A>G (p.Asn151Ser)	TPGS2 (N108S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380896	NM_015476.4(TPGS2):c.434T>C (p.Phe145Ser)	TPGS2 (F102S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570481	NM_015476.4(TPGS2):c.411C>G (p.His137Gln)	TPGS2 (H102Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181532	NM_015476.4(TPGS2):c.397C>A (p.Pro133Thr)	TPGS2 (P85T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3181531	NM_015476.4(TPGS2):c.304A>T (p.Thr102Ser)	TPGS2 (T102S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3328278	NM_015476.4(TPGS2):c.122A>G (p.Glu41Gly)	TPGS2 (E41G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268590	NM_015476.4(TPGS2):c.23C>T (p.Pro8Leu)	TPGS2 (P8L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance