Related gene-specific medical variations for Gene (Select 348110) - ClinVar

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Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3129816	NM_182616.4(ARPIN):c.649G>A (p.Asp217Asn)	ARPIN, ARPIN-AP3S2 (D217N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129815	NM_182616.4(ARPIN):c.633G>T (p.Glu211Asp)	ARPIN, ARPIN-AP3S2 (E115D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129814	NM_182616.4(ARPIN):c.619G>T (p.Gly207Trp)	ARPIN, ARPIN-AP3S2 (G207W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129813	NM_182616.4(ARPIN):c.509A>G (p.Asp170Gly)	ARPIN, ARPIN-AP3S2 (D170G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129812	NM_182616.4(ARPIN):c.416C>T (p.Ala139Val)	ARPIN, ARPIN-AP3S2 (A43V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129811	NM_182616.4(ARPIN):c.415G>A (p.Ala139Thr)	ARPIN, ARPIN-AP3S2 (A139T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129810	NM_182616.4(ARPIN):c.368C>T (p.Pro123Leu)	ARPIN, ARPIN-AP3S2 (P123L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129809	NM_182616.4(ARPIN):c.320A>C (p.Asp107Ala)	ARPIN, ARPIN-AP3S2 (D107A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129808	NM_182616.4(ARPIN):c.259G>A (p.Ala87Thr)	ARPIN, ARPIN-AP3S2 (A87T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129807	NM_182616.4(ARPIN):c.211C>T (p.Arg71Cys)	ARPIN, ARPIN-AP3S2 (R71C)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2391386	NM_182616.4(ARPIN):c.563A>G (p.Asp188Gly)	ARPIN, ARPIN-AP3S2 (D188G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307092	NM_182616.4(ARPIN):c.295T>C (p.Ser99Pro)	ARPIN, ARPIN-AP3S2 (S99P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300141	NM_182616.4(ARPIN):c.476G>A (p.Arg159Gln)	ARPIN, ARPIN-AP3S2 (R63Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275966	NM_182616.4(ARPIN):c.553T>C (p.Phe185Leu)	ARPIN, ARPIN-AP3S2 (F185L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223444	NM_182616.4(ARPIN):c.68C>T (p.Ala23Val)	ARPIN, ARPIN-AP3S2 (A23V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211063	NM_182616.4(ARPIN):c.244G>A (p.Glu82Lys)	ARPIN, ARPIN-AP3S2 (E82K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 978191	NM_182616.4(ARPIN):c.169-963_177del	ARPIN, ARPIN-AP3S2	Deletion (splice acceptor variant)	Seizure	GUncertain significance

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Links from Gene

Items: 23