AHNAK[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149385	GRCh38/hg38 11q12.3(chr11:62249520-62946093)x3	AHNAK, ASRGL1 +110 more	Copy number gain	See cases	GPathogenic
Select item 59754	GRCh38/hg38 11q12.3(chr11:62433886-63096003)x3	AHNAK, B3GAT3 +105 more	Copy number gain	See cases	GPathogenic
Select item 3037297	NM_024060.4(AHNAK):c.443G>T (p.Gly148Val)	AHNAK (G148V)	Single nucleotide variant (missense variant)	AHNAK-related disorder	GBenign
Select item 59755	GRCh38/hg38 11q12.3(chr11:62452571-62862781)x3	AHNAK, B3GAT3 +95 more	Copy number gain	See cases	GPathogenic
Select item 3047518	NM_024060.4(AHNAK):c.424G>A (p.Val142Ile)	AHNAK (V142I)	Single nucleotide variant (missense variant)	AHNAK-related disorder	GLikely benign
Select item 3039757	NM_024060.4(AHNAK):c.414G>A (p.Gly138=)	AHNAK	Single nucleotide variant (synonymous variant)	AHNAK-related disorder	GLikely benign
Select item 3035839	NM_024060.4(AHNAK):c.411C>T (p.Ala137=)	AHNAK	Single nucleotide variant (synonymous variant)	AHNAK-related disorder	GLikely benign
Select item 3040138	NM_024060.4(AHNAK):c.364C>G (p.Leu122Val)	AHNAK (L122V)	Single nucleotide variant (missense variant)	AHNAK-related disorder	GBenign
Select item 2641847	NM_024060.4(AHNAK):c.345C>T (p.Asn115=)	AHNAK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2370842	NM_001620.3(AHNAK):c.17594C>T (p.Ser5865Phe)	AHNAK (S5865F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 724509	NM_001620.3(AHNAK):c.17584C>G (p.Leu5862Val)	AHNAK (L5862V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2402248	NM_001620.3(AHNAK):c.17524G>A (p.Asp5842Asn)	AHNAK (D5842N)	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 2543810	NM_001620.3(AHNAK):c.17443G>A (p.Gly5815Arg)	AHNAK (G5815R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 783597	NM_001620.3(AHNAK):c.17420C>T (p.Ser5807Phe)	AHNAK (S5807F)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2641848	NM_001620.3(AHNAK):c.17387C>T (p.Thr5796Met)	AHNAK (T5796M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 2353935	NM_001620.3(AHNAK):c.17294A>C (p.Lys5765Thr)	AHNAK (K5765T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363862	NM_001620.3(AHNAK):c.17219A>C (p.Lys5740Thr)	AHNAK (K5740T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494313	NM_001620.3(AHNAK):c.17120T>C (p.Leu5707Pro)	AHNAK (L5707P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 718175	NM_001620.3(AHNAK):c.17097G>A (p.Glu5699=)	AHNAK	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2547620	NM_001620.3(AHNAK):c.17034G>A (p.Met5678Ile)	AHNAK (M5678I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612602	NM_001620.3(AHNAK):c.17009G>A (p.Gly5670Asp)	AHNAK (G5670D)	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 2409417	NM_001620.3(AHNAK):c.16909G>C (p.Ala5637Pro)	AHNAK (A5637P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242858	NM_001620.3(AHNAK):c.16877G>A (p.Gly5626Glu)	AHNAK (G5626E)	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 2609138	NM_001620.3(AHNAK):c.16847G>A (p.Gly5616Asp)	AHNAK (G5616D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376034	NM_001620.3(AHNAK):c.16729A>G (p.Ser5577Gly)	AHNAK (S5577G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301959	NM_001620.3(AHNAK):c.16714G>A (p.Val5572Ile)	AHNAK (V5572I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250627	NM_001620.3(AHNAK):c.16709C>T (p.Ala5570Val)	AHNAK (A5570V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2488009	NM_001620.3(AHNAK):c.16708G>A (p.Ala5570Thr)	AHNAK (A5570T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335811	NM_001620.3(AHNAK):c.16705G>A (p.Gly5569Ser)	AHNAK (G5569S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410275	NM_001620.3(AHNAK):c.16681T>G (p.Leu5561Val)	AHNAK (L5561V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289378	NM_001620.3(AHNAK):c.16621A>C (p.Ile5541Leu)	AHNAK (I5541L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345543	NM_001620.3(AHNAK):c.16618G>A (p.Asp5540Asn)	AHNAK (D5540N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 781958	NM_001620.3(AHNAK):c.16487G>A (p.Gly5496Glu)	AHNAK (G5496E)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 2381992	NM_001620.3(AHNAK):c.16393C>T (p.Leu5465Phe)	AHNAK (L5465F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 774895	NM_001620.3(AHNAK):c.16318G>A (p.Val5440Met)	AHNAK (V5440M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2370046	NM_001620.3(AHNAK):c.16268A>G (p.Asn5423Ser)	AHNAK (N5423S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2641849	NM_001620.3(AHNAK):c.16254C>T (p.Ser5418=)	AHNAK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1258354	NM_001620.3(AHNAK):c.16224G>A (p.Leu5408=)	AHNAK	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2234074	NM_001620.3(AHNAK):c.16192G>A (p.Glu5398Lys)	AHNAK (E5398K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286623	NM_001620.3(AHNAK):c.15998G>A (p.Gly5333Asp)	AHNAK (G5333D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359663	NM_001620.3(AHNAK):c.15977C>T (p.Ala5326Val)	AHNAK (A5326V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 765664	NM_001620.3(AHNAK):c.15889G>A (p.Val5297Ile)	AHNAK (V5297I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 777227	NM_001620.3(AHNAK):c.15724G>C (p.Gly5242Arg)	AHNAK (G5242R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2207224	NM_001620.3(AHNAK):c.15629G>A (p.Gly5210Asp)	AHNAK (G5210D)	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 2366235	NM_001620.3(AHNAK):c.15520A>G (p.Asn5174Asp)	AHNAK (N5174D)	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 2540527	NM_001620.3(AHNAK):c.15394G>A (p.Glu5132Lys)	AHNAK (E5132K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394582	NM_001620.3(AHNAK):c.15389A>C (p.His5130Pro)	AHNAK (H5130P)	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 789208	NM_001620.3(AHNAK):c.15223G>A (p.Val5075Met)	AHNAK (V5075M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 2303178	NM_001620.3(AHNAK):c.15181G>C (p.Asp5061His)	AHNAK (D5061H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368854	NM_001620.3(AHNAK):c.15121G>A (p.Gly5041Arg)	AHNAK (G5041R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308990	NM_001620.3(AHNAK):c.15074T>C (p.Met5025Thr)	AHNAK (M5025T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278409	NM_001620.3(AHNAK):c.15073A>G (p.Met5025Val)	AHNAK (M5025V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 754928	NM_001620.3(AHNAK):c.15018C>T (p.Asn5006=)	AHNAK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2559389	NM_001620.3(AHNAK):c.14906A>T (p.Asp4969Val)	AHNAK (D4969V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 749910	NM_001620.3(AHNAK):c.14880C>T (p.Ser4960=)	AHNAK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2559570	NM_001620.3(AHNAK):c.14861T>C (p.Leu4954Ser)	AHNAK (L4954S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388091	NM_001620.3(AHNAK):c.14818G>A (p.Gly4940Ser)	AHNAK (G4940S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253147	NM_001620.3(AHNAK):c.14804C>T (p.Pro4935Leu)	AHNAK (P4935L)	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 2456366	NM_001620.3(AHNAK):c.14800G>T (p.Gly4934Cys)	AHNAK (G4934C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268989	NM_001620.3(AHNAK):c.14782C>T (p.Pro4928Ser)	AHNAK (P4928S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460267	NM_001620.3(AHNAK):c.14779G>A (p.Ala4927Thr)	AHNAK (A4927T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 2619324	NM_001620.3(AHNAK):c.14584A>G (p.Lys4862Glu)	AHNAK (K4862E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493479	NM_001620.3(AHNAK):c.14573T>C (p.Leu4858Ser)	AHNAK (L4858S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474481	NM_001620.3(AHNAK):c.14560G>T (p.Val4854Phe)	AHNAK (V4854F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389465	NM_001620.3(AHNAK):c.14525T>A (p.Ile4842Lys)	AHNAK (I4842K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1174793	NM_001620.3(AHNAK):c.14504C>T (p.Pro4835Leu)	AHNAK (P4835L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2641850	NM_001620.3(AHNAK):c.14496G>A (p.Leu4832=)	AHNAK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2641851	NM_001620.3(AHNAK):c.14490A>G (p.Ala4830=)	AHNAK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2641852	NM_001620.3(AHNAK):c.14487C>T (p.Asp4829=)	AHNAK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2641853	NM_001620.3(AHNAK):c.14463A>T (p.Pro4821=)	AHNAK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2380497	NM_001620.3(AHNAK):c.14462C>T (p.Pro4821Leu)	AHNAK (P4821L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529114	NM_001620.3(AHNAK):c.14459T>C (p.Ile4820Thr)	AHNAK (I4820T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 738871	NM_001620.3(AHNAK):c.14451C>T (p.Asp4817=)	AHNAK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2641854	NM_001620.3(AHNAK):c.14436G>A (p.Ser4812=)	AHNAK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2221074	NM_001620.3(AHNAK):c.14435C>T (p.Ser4812Leu)	AHNAK (S4812L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2641855	NM_001620.3(AHNAK):c.14427C>T (p.Ile4809=)	AHNAK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2641856	NM_001620.3(AHNAK):c.14421C>T (p.Ala4807=)	AHNAK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2489773	NM_001620.3(AHNAK):c.14395G>C (p.Asp4799His)	AHNAK (D4799H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353102	NM_001620.3(AHNAK):c.14392C>T (p.Pro4798Ser)	AHNAK (P4798S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2641857	NM_001620.3(AHNAK):c.14391T>C (p.Gly4797=)	AHNAK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2641858	NM_001620.3(AHNAK):c.14388A>G (p.Glu4796=)	AHNAK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2508268	NM_001620.3(AHNAK):c.14371C>G (p.Pro4791Ala)	AHNAK (P4791A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235093	NM_001620.3(AHNAK):c.14371C>A (p.Pro4791Thr)	AHNAK (P4791T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469661	NM_001620.3(AHNAK):c.14329C>T (p.His4777Tyr)	AHNAK (H4777Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526333	NM_001620.3(AHNAK):c.14315A>G (p.His4772Arg)	AHNAK (H4772R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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