"Ambry Genetics"[submitter] AND "AAK1"[gene] - ClinVar

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

Search results

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 3260482	NM_014911.5(AAK1):c.2306G>A (p.Gly769Asp)	AAK1 (G769D)	Single nucleotide variant (missense variant +1 more)	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 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 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 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 2246521	NM_014911.5(AAK1):c.1898G>A (p.Arg633Lys)	AAK1 (R633K)	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 2263769	NM_014911.5(AAK1):c.1763C>T (p.Ala588Val)	AAK1 (A588V)	Single nucleotide variant (missense variant)	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 3260352	NM_014911.5(AAK1):c.1511A>C (p.His504Pro)	AAK1 (H504P)	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 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
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 2398043	NM_014911.5(AAK1):c.625G>A (p.Gly209Arg)	AAK1 (G209R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260562	NM_014911.5(AAK1):c.623A>G (p.Glu208Gly)	AAK1 (E208G)	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 2368408	NM_014911.5(AAK1):c.460A>G (p.Ile154Val)	AAK1 (I154V)	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 2495533	NM_014911.5(AAK1):c.212G>A (p.Cys71Tyr)	AAK1 (C71Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260063	NM_014911.5(AAK1):c.206T>C (p.Met69Thr)	AAK1 (M69T)	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 2332512	NM_014911.5(AAK1):c.107G>C (p.Gly36Ala)	AAK1 (G36A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2325845	NM_014911.5(AAK1):c.59C>T (p.Ser20Phe)	AAK1 (S20F)	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: 38