ClinVar for Gene (Select 22848) - ClinVar

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Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3133117	NM_014911.5(AAK1):c.86G>C (p.Gly29Ala)	AAK1 (G29A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132541	NM_014911.5(AAK1):c.1937G>A (p.Gly646Glu)	AAK1 (G647E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132494	NM_014911.5(AAK1):c.1855C>G (p.Leu619Val)	AAK1 (L620V +1 more)	Single nucleotide variant (missense variant)	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 3062658	GRCh37/hg19 2p14-13.3(chr2:67702012-70506257)x1	AAK1, ANTXR1 +24 more	Copy number loss	not specified	GUncertain significance
Select item 2620207	NM_014911.5(AAK1):c.2050C>A (p.Gln684Lys)	AAK1 (Q684K)	Single nucleotide variant (missense variant +1 more)	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 2612520	NM_014911.5(AAK1):c.2176G>A (p.Glu726Lys)	AAK1 (E726K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558044	NM_014911.5(AAK1):c.2648C>T (p.Ala883Val)	AAK1 (A883V)	Single nucleotide variant (missense variant +1 more)	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 2498868	GRCh37/hg19 2p14-13.3(chr2:65296579-71305638)x1	AAK1, ACTR2 +43 more	Copy number loss	not provided	GUncertain significance
Select item 2495533	NM_014911.5(AAK1):c.212G>A (p.Cys71Tyr)	AAK1 (C71Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427025	NC_000002.11:g.(?_69240632)_(74779761_?)dup	DGUOK, EMX1 +72 more	Duplication	not provided	GUncertain significance
Select item 2398043	NM_014911.5(AAK1):c.625G>A (p.Gly209Arg)	AAK1 (G209R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372170	NM_014911.5(AAK1):c.200A>G (p.Asn67Ser)	AAK1 (N67S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368408	NM_014911.5(AAK1):c.460A>G (p.Ile154Val)	AAK1 (I154V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360624	NM_014911.5(AAK1):c.2056G>A (p.Val686Ile)	AAK1 (V686I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359186	NM_014911.5(AAK1):c.2606C>G (p.Ser869Cys)	AAK1 (S869C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332512	NM_014911.5(AAK1):c.107G>C (p.Gly36Ala)	AAK1 (G36A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331772	NM_014911.5(AAK1):c.2482G>C (p.Ala828Pro)	AAK1 (A828P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325845	NM_014911.5(AAK1):c.59C>T (p.Ser20Phe)	AAK1 (S20F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307355	NM_014911.5(AAK1):c.2362C>T (p.Pro788Ser)	AAK1 (P788S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299580	NM_014911.5(AAK1):c.1753C>T (p.Pro585Ser)	AAK1 (P585S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284365	NM_014911.5(AAK1):c.704G>A (p.Ser235Asn)	AAK1 (S235N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280218	NM_014911.5(AAK1):c.2323G>A (p.Val775Met)	AAK1 (V775M)	Single nucleotide variant (missense variant +1 more)	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 2275507	NM_014911.5(AAK1):c.1454C>T (p.Pro485Leu)	AAK1, LOC120961763 (P485L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270190	NM_014911.5(AAK1):c.2513C>A (p.Pro838His)	AAK1 (P838H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263769	NM_014911.5(AAK1):c.1763C>T (p.Ala588Val)	AAK1 (A588V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259027	NM_014911.5(AAK1):c.349G>A (p.Gly117Ser)	AAK1 (G117S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246521	NM_014911.5(AAK1):c.1898G>A (p.Arg633Lys)	AAK1 (R633K)	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 2230291	NM_014911.5(AAK1):c.2603G>A (p.Cys868Tyr)	AAK1 (C868Y)	Single nucleotide variant (missense variant +1 more)	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
Select item 2207685	NM_014911.5(AAK1):c.490C>T (p.Arg164Cys)	AAK1 (R164C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1707458	Single allele	AAK1, ADD2 +107 more	Duplication	not specified	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 980977	GRCh37/hg19 2p13.3(chr2:69506803-70159981)x1	AAK1, ANXA4 +5 more	Copy number loss	not provided	GUncertain significance
Select item 980976	GRCh37/hg19 2p13.3(chr2:69574320-69795504)x1	AAK1, GFPT1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 805792	NM_014911.5(AAK1):c.2591C>A (p.Ser864Tyr)	AAK1 (S864Y)	Single nucleotide variant (missense variant +1 more)	Tooth agenesis	GUncertain significance
Select item 787581	NM_014911.5(AAK1):c.2081C>T (p.Thr694Met)	AAK1 (T694M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 787232	NM_014911.5(AAK1):c.2157T>G (p.Leu719=)	AAK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 752766	NM_014911.5(AAK1):c.315T>A (p.Gly105=)	AAK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
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 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	C2orf74, CCT4 +768 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 51