LOC120961763[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 152020	GRCh38/hg38 2p14-13.3(chr2:64587095-69876311)x1	AAK1, ACTR2 +216 more	Copy number loss	See cases	GLikely pathogenic
Select item 1707458	Single allele	AAK1, ADD2 +107 more	Duplication	not specified	GUncertain significance
Select item 3132401	NM_014911.5(AAK1):c.1481A>C (p.Gln494Pro)	AAK1, LOC120961763 (Q494P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275507	NM_014911.5(AAK1):c.1454C>T (p.Pro485Leu)	AAK1, LOC120961763 (P485L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276985	NM_014911.5(AAK1):c.1418A>T (p.Gln473Leu)	AAK1, LOC120961763 (Q473L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232723	NM_014911.5(AAK1):c.1364C>T (p.Ala455Val)	AAK1, LOC120961763 (A455V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260395	NM_014911.5(AAK1):c.1363G>T (p.Ala455Ser)	AAK1, LOC120961763 (A455S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616912	NM_014911.5(AAK1):c.1337C>A (p.Pro446His)	AAK1, LOC120961763 (P446H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522980	NM_014911.5(AAK1):c.1334C>T (p.Thr445Met)	AAK1, LOC120961763 (T445M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260417	NM_014911.5(AAK1):c.1286C>T (p.Pro429Leu)	AAK1, LOC120961763 (P429L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222282	NM_014911.5(AAK1):c.1285C>T (p.Pro429Ser)	AAK1, LOC120961763 (P429S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance