"Ambry Genetics"[submitter] AND "ARPIN"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3316015	NM_182616.4(ARPIN):c.664G>A (p.Glu222Lys)	ARPIN, ARPIN-AP3S2 (E126K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 3316023	NM_182616.4(ARPIN):c.560G>T (p.Gly187Val)	ARPIN, ARPIN-AP3S2 (G91V +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 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 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 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 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 3316004	NM_182616.4(ARPIN):c.475C>T (p.Arg159Trp)	ARPIN, ARPIN-AP3S2 (R159W +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 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 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 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 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 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 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 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 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 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 2223444	NM_182616.4(ARPIN):c.68C>T (p.Ala23Val)	ARPIN, ARPIN-AP3S2 (A23V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 25