"Ambry Genetics"[submitter] AND "ARK2C"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2264687	NM_152470.3(ARK2C):c.137A>C (p.Gln46Pro)	ARK2C (Q46P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287014	NM_152470.3(ARK2C):c.223A>C (p.Ser75Arg)	ARK2C (S75R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3314919	NM_152470.3(ARK2C):c.340C>A (p.Leu114Met)	ARK2C (L114M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235455	NM_152470.3(ARK2C):c.400G>C (p.Val134Leu)	ARK2C (V134L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235456	NM_152470.3(ARK2C):c.412C>T (p.Arg138Cys)	ARK2C (R138C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235457	NM_152470.3(ARK2C):c.441A>C (p.Gln147His)	ARK2C (Q147H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325185	NM_152470.3(ARK2C):c.494G>C (p.Ser165Thr)	ARK2C (S165T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3235458	NM_152470.3(ARK2C):c.520C>G (p.Gln174Glu)	ARK2C (Q174E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3235459	NM_152470.3(ARK2C):c.540C>G (p.Ile180Met)	ARK2C (I180M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2372203	NM_152470.3(ARK2C):c.661C>G (p.Leu221Val)	ARK2C (L29V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235461	NM_152470.3(ARK2C):c.703G>A (p.Val235Ile)	ARK2C (V235I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226095	NM_152470.3(ARK2C):c.1033G>A (p.Asp345Asn)	ARK2C (D345N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance