ClinVar for Gene (Select 79026) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3351258	NM_001620.3(AHNAK):c.16255G>A (p.Asp5419Asn)	AHNAK (D5419N)	Single nucleotide variant (missense variant +1 more)	AHNAK-related disorder	GUncertain significance
Select item 3277752	NM_001620.3(AHNAK):c.16760A>C (p.His5587Pro)	AHNAK (H5587P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277743	NM_001620.3(AHNAK):c.8339A>G (p.Lys2780Arg)	AHNAK (K2780R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277739	NM_001620.3(AHNAK):c.6494C>A (p.Ala2165Glu)	AHNAK (A2165E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277735	NM_001620.3(AHNAK):c.8929G>C (p.Val2977Leu)	AHNAK (V2977L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277726	NM_001620.3(AHNAK):c.6001C>G (p.Pro2001Ala)	AHNAK (P2001A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277718	NM_001620.3(AHNAK):c.10381C>T (p.Pro3461Ser)	AHNAK (P3461S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277708	NM_001620.3(AHNAK):c.8992G>C (p.Asp2998His)	AHNAK (D2998H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277697	NM_001620.3(AHNAK):c.8816T>C (p.Ile2939Thr)	AHNAK (I2939T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277688	NM_001620.3(AHNAK):c.6007G>T (p.Val2003Phe)	AHNAK (V2003F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277680	NM_001620.3(AHNAK):c.2736G>C (p.Lys912Asn)	AHNAK (K912N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277678	NM_001620.3(AHNAK):c.6766T>A (p.Phe2256Ile)	AHNAK (F2256I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277669	NM_001620.3(AHNAK):c.10304T>G (p.Ile3435Ser)	AHNAK (I3435S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277665	NM_001620.3(AHNAK):c.8320A>G (p.Ile2774Val)	AHNAK (I2774V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277659	NM_001620.3(AHNAK):c.10097C>T (p.Thr3366Ile)	AHNAK (T3366I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277655	NM_001620.3(AHNAK):c.3905C>T (p.Pro1302Leu)	AHNAK (P1302L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277646	NM_001620.3(AHNAK):c.2360T>C (p.Val787Ala)	AHNAK (V787A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277636	NM_001620.3(AHNAK):c.12838C>T (p.Pro4280Ser)	AHNAK (P4280S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277627	NM_001620.3(AHNAK):c.3616G>C (p.Gly1206Arg)	AHNAK (G1206R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277622	NM_001620.3(AHNAK):c.8816T>G (p.Ile2939Ser)	AHNAK (I2939S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277618	NM_001620.3(AHNAK):c.15614G>C (p.Gly5205Ala)	AHNAK (G5205A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277615	NM_001620.3(AHNAK):c.1317C>A (p.Phe439Leu)	AHNAK (F439L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277612	NM_001620.3(AHNAK):c.14932C>A (p.Pro4978Thr)	AHNAK (P4978T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277610	NM_001620.3(AHNAK):c.17170G>A (p.Gly5724Arg)	AHNAK (G5724R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277609	NM_001620.3(AHNAK):c.4761T>A (p.Asn1587Lys)	AHNAK (N1587K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277604	NM_001620.3(AHNAK):c.12724G>A (p.Gly4242Ser)	AHNAK (G4242S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277598	NM_001620.3(AHNAK):c.640G>A (p.Ala214Thr)	AHNAK (A214T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277590	NM_001620.3(AHNAK):c.10339C>T (p.Pro3447Ser)	AHNAK (P3447S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277581	NM_001620.3(AHNAK):c.13160T>C (p.Met4387Thr)	AHNAK (M4387T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277571	NM_001620.3(AHNAK):c.8411T>C (p.Val2804Ala)	AHNAK (V2804A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277563	NM_001620.3(AHNAK):c.8938G>A (p.Asp2980Asn)	AHNAK (D2980N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277555	NM_001620.3(AHNAK):c.11157T>G (p.Ile3719Met)	AHNAK (I3719M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277543	NM_001620.3(AHNAK):c.2494G>A (p.Val832Ile)	AHNAK (V832I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277532	NM_001620.3(AHNAK):c.1330G>A (p.Ala444Thr)	AHNAK (A444T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277522	NM_001620.3(AHNAK):c.9809A>G (p.His3270Arg)	AHNAK (H3270R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277511	NM_001620.3(AHNAK):c.11672T>A (p.Met3891Lys)	AHNAK (M3891K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277502	NM_001620.3(AHNAK):c.14156C>T (p.Pro4719Leu)	AHNAK (P4719L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277482	NM_001620.3(AHNAK):c.16159G>A (p.Val5387Ile)	AHNAK (V5387I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277471	NM_001620.3(AHNAK):c.8357T>G (p.Val2786Gly)	AHNAK (V2786G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277460	NM_001620.3(AHNAK):c.7516T>C (p.Trp2506Arg)	AHNAK (W2506R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277450	NM_001620.3(AHNAK):c.5824G>A (p.Val1942Met)	AHNAK (V1942M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277439	NM_001620.3(AHNAK):c.1312A>G (p.Lys438Glu)	AHNAK (K438E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277429	NM_001620.3(AHNAK):c.8399C>T (p.Pro2800Leu)	AHNAK (P2800L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277419	NM_001620.3(AHNAK):c.17473T>A (p.Phe5825Ile)	AHNAK (F5825I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277409	NM_001620.3(AHNAK):c.1280G>A (p.Ser427Asn)	AHNAK (S427N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277400	NM_001620.3(AHNAK):c.9512A>G (p.Asp3171Gly)	AHNAK (D3171G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277389	NM_001620.3(AHNAK):c.10463A>T (p.Lys3488Ile)	AHNAK (K3488I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277368	NM_001620.3(AHNAK):c.3247G>A (p.Gly1083Arg)	AHNAK (G1083R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277359	NM_001620.3(AHNAK):c.6545C>T (p.Pro2182Leu)	AHNAK (P2182L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277351	NM_001620.3(AHNAK):c.6548A>G (p.Lys2183Arg)	AHNAK (K2183R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277339	NM_001620.3(AHNAK):c.11213T>G (p.Met3738Arg)	AHNAK (M3738R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277328	NM_001620.3(AHNAK):c.9514G>A (p.Val3172Met)	AHNAK (V3172M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277318	NM_001620.3(AHNAK):c.10792T>C (p.Trp3598Arg)	AHNAK (W3598R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277307	NM_001620.3(AHNAK):c.12187G>A (p.Val4063Met)	AHNAK (V4063M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277287	NM_001620.3(AHNAK):c.9812G>A (p.Gly3271Asp)	AHNAK (G3271D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277277	NM_001620.3(AHNAK):c.7056A>C (p.Lys2352Asn)	AHNAK (K2352N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277257	NM_001620.3(AHNAK):c.11384T>C (p.Val3795Ala)	AHNAK (V3795A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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

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