ClinVar for Gene (Select 79026) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244738	NC_000011.9:g.(?_62105450)_(62414071_?)dup	AHNAK, ASRGL1 +8 more	Duplication	not provided	GUncertain significance
Select item 3234492	NM_001620.3(AHNAK):c.12504C>T (p.Pro4168=)	AHNAK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3099955	NM_001620.3(AHNAK):c.9952T>G (p.Leu3318Val)	AHNAK (L3318V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099942	NM_001620.3(AHNAK):c.9782A>T (p.Asp3261Val)	AHNAK (D3261V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099932	NM_001620.3(AHNAK):c.9635T>C (p.Met3212Thr)	AHNAK (M3212T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099929	NM_001620.3(AHNAK):c.9613C>T (p.Pro3205Ser)	AHNAK (P3205S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099919	NM_001620.3(AHNAK):c.9430C>A (p.Pro3144Thr)	AHNAK (P3144T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099910	NM_001620.3(AHNAK):c.938A>T (p.Lys313Ile)	AHNAK (K313I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099895	NM_001620.3(AHNAK):c.9230C>T (p.Pro3077Leu)	AHNAK (P3077L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099843	NM_001620.3(AHNAK):c.8734C>T (p.Pro2912Ser)	AHNAK (P2912S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099827	NM_001620.3(AHNAK):c.8585G>A (p.Gly2862Glu)	AHNAK (G2862E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099821	NM_001620.3(AHNAK):c.853G>A (p.Gly285Arg)	AHNAK (G285R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099810	NM_001620.3(AHNAK):c.8368C>G (p.Leu2790Val)	AHNAK (L2790V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099802	NM_001620.3(AHNAK):c.8228T>G (p.Ile2743Ser)	AHNAK (I2743S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099797	NM_001620.3(AHNAK):c.8114C>T (p.Pro2705Leu)	AHNAK (P2705L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099786	NM_001620.3(AHNAK):c.7786G>A (p.Asp2596Asn)	AHNAK (D2596N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099782	NM_001620.3(AHNAK):c.7748A>G (p.Asp2583Gly)	AHNAK (D2583G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099737	NM_001620.3(AHNAK):c.722A>G (p.His241Arg)	AHNAK (H241R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099708	NM_001620.3(AHNAK):c.6838G>C (p.Asp2280His)	AHNAK (D2280H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099705	NM_001620.3(AHNAK):c.6830C>G (p.Pro2277Arg)	AHNAK (P2277R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099702	NM_001620.3(AHNAK):c.6781C>T (p.Pro2261Ser)	AHNAK (P2261S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099682	NM_001620.3(AHNAK):c.6628G>A (p.Glu2210Lys)	AHNAK (E2210K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099655	NM_001620.3(AHNAK):c.6449G>A (p.Ser2150Asn)	AHNAK (S2150N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099629	NM_001620.3(AHNAK):c.6052A>G (p.Met2018Val)	AHNAK (M2018V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099622	NM_001620.3(AHNAK):c.6019A>G (p.Met2007Val)	AHNAK (M2007V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3099616	NM_001620.3(AHNAK):c.5999G>T (p.Gly2000Val)	AHNAK (G2000V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099608	NM_001620.3(AHNAK):c.581A>G (p.Asn194Ser)	AHNAK (N194S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099604	NM_001620.3(AHNAK):c.5766C>G (p.Ile1922Met)	AHNAK (I1922M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099573	NM_001620.3(AHNAK):c.5447A>G (p.Asp1816Gly)	AHNAK (D1816G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099561	NM_001620.3(AHNAK):c.5164A>G (p.Met1722Val)	AHNAK (M1722V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099505	NM_001620.3(AHNAK):c.4582C>T (p.Pro1528Ser)	AHNAK (P1528S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099502	NM_001620.3(AHNAK):c.4574G>T (p.Gly1525Val)	AHNAK (G1525V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099499	NM_001620.3(AHNAK):c.4553T>A (p.Phe1518Tyr)	AHNAK (F1518Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099493	NM_001620.3(AHNAK):c.4487C>T (p.Ala1496Val)	AHNAK (A1496V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099490	NM_001620.3(AHNAK):c.4421C>T (p.Pro1474Leu)	AHNAK (P1474L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099486	NM_001620.3(AHNAK):c.4337T>C (p.Ile1446Thr)	AHNAK (I1446T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099473	NM_001620.3(AHNAK):c.4183T>C (p.Phe1395Leu)	AHNAK (F1395L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099470	NM_001620.3(AHNAK):c.4139T>G (p.Leu1380Arg)	AHNAK (L1380R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099463	NM_001620.3(AHNAK):c.3999G>T (p.Lys1333Asn)	AHNAK (K1333N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099439	NM_001620.3(AHNAK):c.3521C>T (p.Pro1174Leu)	AHNAK (P1174L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099434	NM_001620.3(AHNAK):c.3178A>T (p.Met1060Leu)	AHNAK (M1060L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099433	NM_001620.3(AHNAK):c.3143G>A (p.Gly1048Glu)	AHNAK (G1048E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099422	NM_001620.3(AHNAK):c.3013A>G (p.Lys1005Glu)	AHNAK (K1005E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099404	NM_001620.3(AHNAK):c.278C>T (p.Ser93Phe)	AHNAK (S93F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099402	NM_001620.3(AHNAK):c.2638A>T (p.Met880Leu)	AHNAK (M880L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099398	NM_001620.3(AHNAK):c.2585A>G (p.Asp862Gly)	AHNAK (D862G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099385	NM_001620.3(AHNAK):c.2395G>A (p.Gly799Arg)	AHNAK (G799R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099374	NM_001620.3(AHNAK):c.2227C>G (p.Pro743Ala)	AHNAK (P743A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099370	NM_001620.3(AHNAK):c.2069T>A (p.Met690Lys)	AHNAK (M690K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099367	NM_001620.3(AHNAK):c.2029G>A (p.Gly677Arg)	AHNAK (G677R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099351	NM_001620.3(AHNAK):c.1796A>G (p.Lys599Arg)	AHNAK (K599R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099330	NM_001620.3(AHNAK):c.17503C>A (p.His5835Asn)	AHNAK (H5835N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099322	NM_001620.3(AHNAK):c.1741C>T (p.Pro581Ser)	AHNAK (P581S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099317	NM_001620.3(AHNAK):c.1736C>T (p.Ala579Val)	AHNAK (A579V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099315	NM_001620.3(AHNAK):c.17341A>G (p.Asn5781Asp)	AHNAK (N5781D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099313	NM_001620.3(AHNAK):c.17324A>C (p.Lys5775Thr)	AHNAK (K5775T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099295	NM_001620.3(AHNAK):c.16991C>G (p.Pro5664Arg)	AHNAK (P5664R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099293	NM_001620.3(AHNAK):c.16954G>A (p.Gly5652Arg)	AHNAK (G5652R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099282	NM_001620.3(AHNAK):c.16865C>T (p.Pro5622Leu)	AHNAK (P5622L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099255	NM_001620.3(AHNAK):c.165T>G (p.Ile55Met)	AHNAK (I55M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099238	NM_001620.3(AHNAK):c.15883C>T (p.Pro5295Ser)	AHNAK (P5295S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099231	NM_001620.3(AHNAK):c.15554C>T (p.Pro5185Leu)	AHNAK (P5185L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099220	NM_001620.3(AHNAK):c.15413C>T (p.Ala5138Val)	AHNAK (A5138V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099210	NM_001620.3(AHNAK):c.15346G>A (p.Glu5116Lys)	AHNAK (E5116K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099204	NM_001620.3(AHNAK):c.15319C>G (p.Pro5107Ala)	AHNAK (P5107A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099197	NM_001620.3(AHNAK):c.15215A>G (p.Lys5072Arg)	AHNAK (K5072R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099187	NM_001620.3(AHNAK):c.14996C>T (p.Thr4999Ile)	AHNAK (T4999I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099169	NM_001620.3(AHNAK):c.14803C>T (p.Pro4935Ser)	AHNAK (P4935S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099147	NM_001620.3(AHNAK):c.14665C>T (p.Arg4889Cys)	AHNAK (R4889C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099083	NM_001620.3(AHNAK):c.14212G>A (p.Asp4738Asn)	AHNAK (D4738N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099066	NM_001620.3(AHNAK):c.14066A>T (p.Asp4689Val)	AHNAK (D4689V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099049	NM_001620.3(AHNAK):c.13818G>C (p.Lys4606Asn)	AHNAK (K4606N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099043	NM_001620.3(AHNAK):c.1369A>G (p.Thr457Ala)	AHNAK (T457A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099037	NM_001620.3(AHNAK):c.13610T>C (p.Met4537Thr)	AHNAK (M4537T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099033	NM_001620.3(AHNAK):c.13518G>C (p.Lys4506Asn)	AHNAK (K4506N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099030	NM_001620.3(AHNAK):c.13490G>A (p.Gly4497Asp)	AHNAK (G4497D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099025	NM_001620.3(AHNAK):c.13357A>T (p.Asn4453Tyr)	AHNAK (N4453Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099013	NM_001620.3(AHNAK):c.13168A>C (p.Ile4390Leu)	AHNAK (I4390L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3099004	NM_001620.3(AHNAK):c.13045G>A (p.Gly4349Ser)	AHNAK (G4349S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3099002	NM_001620.3(AHNAK):c.13030G>C (p.Asp4344His)	AHNAK (D4344H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098992	NM_001620.3(AHNAK):c.12979C>G (p.Pro4327Ala)	AHNAK (P4327A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098988	NM_001620.3(AHNAK):c.12904G>A (p.Ala4302Thr)	AHNAK (A4302T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098978	NM_001620.3(AHNAK):c.12833C>G (p.Ser4278Cys)	AHNAK (S4278C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098968	NM_001620.3(AHNAK):c.12802G>A (p.Gly4268Ser)	AHNAK (G4268S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098933	NM_001620.3(AHNAK):c.12391A>C (p.Met4131Leu)	AHNAK (M4131L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098928	NM_001620.3(AHNAK):c.12386T>G (p.Ile4129Ser)	AHNAK (I4129S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098921	NM_001620.3(AHNAK):c.12251T>G (p.Leu4084Trp)	AHNAK (L4084W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098911	NM_001620.3(AHNAK):c.12152T>G (p.Val4051Gly)	AHNAK (V4051G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098898	NM_001620.3(AHNAK):c.11771G>C (p.Arg3924Pro)	AHNAK (R3924P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098880	NM_001620.3(AHNAK):c.11495A>T (p.Asp3832Val)	AHNAK (D3832V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098874	NM_001620.3(AHNAK):c.11372C>T (p.Pro3791Leu)	AHNAK (P3791L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098869	NM_001620.3(AHNAK):c.11353A>C (p.Lys3785Gln)	AHNAK (K3785Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098848	NM_001620.3(AHNAK):c.11032C>G (p.Leu3678Val)	AHNAK (L3678V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098843	NM_001620.3(AHNAK):c.10850G>C (p.Gly3617Ala)	AHNAK (G3617A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098838	NM_001620.3(AHNAK):c.10810A>C (p.Lys3604Gln)	AHNAK (K3604Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098835	NM_001620.3(AHNAK):c.10583G>T (p.Gly3528Val)	AHNAK (G3528V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098831	NM_001620.3(AHNAK):c.10540G>C (p.Gly3514Arg)	AHNAK (G3514R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098829	NM_001620.3(AHNAK):c.10535T>C (p.Ile3512Thr)	AHNAK (I3512T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098826	NM_001620.3(AHNAK):c.10528A>G (p.Met3510Val)	AHNAK (M3510V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098815	NM_001620.3(AHNAK):c.10052G>A (p.Arg3351His)	AHNAK (R3351H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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