Related gene-specific medical variations for Gene (Select 10239) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3129817	NM_001199058.2(ARPIN-AP3S2):c.1162C>T (p.Pro388Ser)	AP3S2, ARPIN-AP3S2 (P187S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127540	NM_005829.5(AP3S2):c.470C>T (p.Ala157Val)	AP3S2, ARPIN-AP3S2 (A358V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127539	NM_005829.5(AP3S2):c.304G>A (p.Glu102Lys)	AP3S2, ARPIN-AP3S2 (E102K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127538	NM_005829.5(AP3S2):c.260T>C (p.Leu87Ser)	AP3S2, ARPIN-AP3S2 (L288S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612146	NM_005829.5(AP3S2):c.68T>C (p.Phe23Ser)	AP3S2, ARPIN-AP3S2 (F23S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2464311	NM_005829.5(AP3S2):c.206C>T (p.Ala69Val)	AP3S2, ARPIN-AP3S2 (A270V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393161	NM_005829.5(AP3S2):c.420G>C (p.Gln140His)	AP3S2, ARPIN-AP3S2 +1 more (Q341H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

ClinVar