"Ambry Genetics"[submitter] AND "LOC129937463"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2478811	NM_025112.5(ZXDC):c.539C>G (p.Pro180Arg)	LOC129937463, ZXDC (P180R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199698	NM_025112.5(ZXDC):c.515C>T (p.Thr172Met)	LOC129937463, ZXDC (T172M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199697	NM_025112.5(ZXDC):c.497A>T (p.Gln166Leu)	LOC129937463, ZXDC (Q166L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229321	NM_025112.5(ZXDC):c.497A>C (p.Gln166Pro)	LOC129937463, ZXDC (Q166P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260211	NM_025112.5(ZXDC):c.478G>A (p.Ala160Thr)	LOC129937463, ZXDC (A160T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544366	NM_025112.5(ZXDC):c.478G>T (p.Ala160Ser)	LOC129937463, ZXDC (A160S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321708	NM_025112.5(ZXDC):c.401A>G (p.Gln134Arg)	LOC129937463, ZXDC (Q134R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199696	NM_025112.5(ZXDC):c.362C>T (p.Pro121Leu)	LOC129937463, ZXDC (P121L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349492	NM_025112.5(ZXDC):c.316A>G (p.Ser106Gly)	LOC129937463, ZXDC (S106G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199695	NM_025112.5(ZXDC):c.305T>A (p.Val102Asp)	LOC129937463, ZXDC (V102D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance