"Ambry Genetics"[submitter] AND "LOC129933728"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2376770	NM_001008708.4(CHAC2):c.6G>C (p.Trp2Cys)	ASB3, CHAC2 +2 more (W2C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2220868	NM_001008708.4(CHAC2):c.19G>C (p.Gly7Arg)	ASB3, CHAC2 +2 more (G7R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3143988	NM_001008708.4(CHAC2):c.38T>C (p.Val13Ala)	ASB3, CHAC2 +2 more (V13A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2623190	NM_001008708.4(CHAC2):c.61C>G (p.Leu21Val)	ASB3, CHAC2 +2 more (L21V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3143991	NM_001008708.4(CHAC2):c.77C>T (p.Thr26Ile)	ASB3, CHAC2 +2 more (T26I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2267051	NM_001008708.4(CHAC2):c.97T>C (p.Trp33Arg)	ASB3, CHAC2 +2 more (W33R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3143983	NM_001008708.4(CHAC2):c.104G>A (p.Gly35Asp)	ASB3, CHAC2 +2 more (G35D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3143984	NM_001008708.4(CHAC2):c.106A>C (p.Ser36Arg)	ASB3, CHAC2 +2 more (S36R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3143985	NM_001008708.4(CHAC2):c.107G>C (p.Ser36Thr)	ASB3, CHAC2 +2 more (S36T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2461022	NM_001008708.4(CHAC2):c.108C>G (p.Ser36Arg)	ASB3, CHAC2 +2 more (S36R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance