Related gene-specific medical variations for Gene (Select 100526783) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2612146	NM_005829.5(AP3S2):c.68T>C (p.Phe23Ser)	AP3S2, ARPIN-AP3S2 (F23S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2603508	NM_182616.4(ARPIN):c.548G>A (p.Cys183Tyr)	ARPIN, ARPIN-AP3S2 (C87Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516682	NM_182616.4(ARPIN):c.278C>T (p.Thr93Met)	ARPIN, ARPIN-AP3S2 (T93M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2512849	NM_182616.4(ARPIN):c.493G>A (p.Asp165Asn)	ARPIN, ARPIN-AP3S2 (D165N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508971	NM_182616.4(ARPIN):c.340G>A (p.Glu114Lys)	ARPIN, ARPIN-AP3S2 (E114K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478158	NM_182616.4(ARPIN):c.289A>C (p.Met97Leu)	ARPIN, ARPIN-AP3S2 (M97L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2454801	NM_182616.4(ARPIN):c.344C>T (p.Ala115Val)	ARPIN, ARPIN-AP3S2 (A115V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2391386	NM_182616.4(ARPIN):c.563A>G (p.Asp188Gly)	ARPIN-AP3S2, ARPIN (D188G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307092	NM_182616.4(ARPIN):c.295T>C (p.Ser99Pro)	ARPIN-AP3S2, ARPIN (S99P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300141	NM_182616.4(ARPIN):c.476G>A (p.Arg159Gln)	ARPIN-AP3S2, ARPIN (R63Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275966	NM_182616.4(ARPIN):c.553T>C (p.Phe185Leu)	ARPIN-AP3S2, ARPIN (F185L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223444	NM_182616.4(ARPIN):c.68C>T (p.Ala23Val)	ARPIN, ARPIN-AP3S2 (A23V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211063	NM_182616.4(ARPIN):c.244G>A (p.Glu82Lys)	ARPIN-AP3S2, ARPIN (E82K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 978191	NM_182616.4(ARPIN):c.169-963_177del	ARPIN, ARPIN-AP3S2	Deletion (splice acceptor variant)	Seizure	GUncertain significance