"Ambry Genetics"[submitter] AND "AHNAK2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2408130	NM_138420.4(AHNAK2):c.17384G>C (p.Gly5795Ala)	AHNAK2 (G5695A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278391	NM_138420.4(AHNAK2):c.17330A>C (p.Gln5777Pro)	AHNAK2 (Q5777P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100705	NM_138420.4(AHNAK2):c.17296T>C (p.Ser5766Pro)	AHNAK2 (S5766P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536932	NM_138420.4(AHNAK2):c.16955T>C (p.Ile5652Thr)	AHNAK2 (I5552T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100696	NM_138420.4(AHNAK2):c.16933C>T (p.Leu5645Phe)	AHNAK2 (L5645F +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2587941	NM_138420.4(AHNAK2):c.16928G>T (p.Gly5643Val)	AHNAK2 (G5643V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100692	NM_138420.4(AHNAK2):c.16904A>G (p.Asp5635Gly)	AHNAK2 (D5535G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259167	NM_138420.4(AHNAK2):c.16889G>A (p.Gly5630Asp)	AHNAK2 (G5530D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2374842	NM_138420.4(AHNAK2):c.16859A>G (p.Gln5620Arg)	AHNAK2 (Q5620R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225662	NM_138420.4(AHNAK2):c.16859A>C (p.Gln5620Pro)	AHNAK2 (Q5620P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511922	NM_138420.4(AHNAK2):c.16844C>T (p.Pro5615Leu)	AHNAK2 (P5515L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247159	NM_138420.4(AHNAK2):c.16803C>A (p.Asp5601Glu)	AHNAK2 (D5601E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479186	NM_138420.4(AHNAK2):c.16781C>T (p.Pro5594Leu)	AHNAK2 (P5494L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400656	NM_138420.4(AHNAK2):c.16741G>A (p.Val5581Ile)	AHNAK2 (V5481I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349466	NM_138420.4(AHNAK2):c.16718C>A (p.Pro5573Gln)	AHNAK2 (P5573Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316723	NM_138420.4(AHNAK2):c.16717C>T (p.Pro5573Ser)	AHNAK2 (P5473S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100670	NM_138420.4(AHNAK2):c.16678G>A (p.Asp5560Asn)	AHNAK2 (D5460N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521064	NM_138420.4(AHNAK2):c.16595C>G (p.Ala5532Gly)	AHNAK2 (A5532G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278413	NM_138420.4(AHNAK2):c.16591C>G (p.Gln5531Glu)	AHNAK2 (Q5431E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613134	NM_138420.4(AHNAK2):c.16523C>T (p.Thr5508Met)	AHNAK2 (T5408M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523033	NM_138420.4(AHNAK2):c.16424A>G (p.Gln5475Arg)	AHNAK2 (Q5475R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295398	NM_138420.4(AHNAK2):c.16393G>C (p.Val5465Leu)	AHNAK2 (V5365L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227323	NM_138420.4(AHNAK2):c.16384A>G (p.Lys5462Glu)	AHNAK2 (K5462E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1162310	NM_138420.4(AHNAK2):c.16379T>C (p.Ile5460Thr)	AHNAK2 (I5360T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597535	NM_138420.4(AHNAK2):c.16378A>G (p.Ile5460Val)	AHNAK2 (I5460V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214036	NM_138420.4(AHNAK2):c.16354A>T (p.Asn5452Tyr)	AHNAK2 (N5352Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482816	NM_138420.4(AHNAK2):c.16349A>C (p.Asp5450Ala)	AHNAK2 (D5450A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3100648	NM_138420.4(AHNAK2):c.16286C>G (p.Pro5429Arg)	AHNAK2 (P5329R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300140	NM_138420.4(AHNAK2):c.16265C>G (p.Thr5422Arg)	AHNAK2 (T5322R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278144	NM_138420.4(AHNAK2):c.16211A>T (p.Asp5404Val)	AHNAK2 (D5304V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334561	NM_138420.4(AHNAK2):c.16186T>C (p.Phe5396Leu)	AHNAK2 (F5396L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551630	NM_138420.4(AHNAK2):c.16154A>G (p.Lys5385Arg)	AHNAK2 (K5285R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400958	NM_138420.4(AHNAK2):c.16153A>G (p.Lys5385Glu)	AHNAK2 (K5285E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290686	NM_138420.4(AHNAK2):c.16147A>G (p.Thr5383Ala)	AHNAK2 (T5283A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608464	NM_138420.4(AHNAK2):c.16058G>T (p.Gly5353Val)	AHNAK2 (G5253V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100622	NM_138420.4(AHNAK2):c.15974T>C (p.Ile5325Thr)	AHNAK2 (I5325T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352277	NM_138420.4(AHNAK2):c.15958G>A (p.Val5320Ile)	AHNAK2 (V5320I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471042	NM_138420.4(AHNAK2):c.15736A>G (p.Met5246Val)	AHNAK2 (M5146V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3100612	NM_138420.4(AHNAK2):c.15676G>A (p.Gly5226Ser)	AHNAK2 (G5126S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356008	NM_138420.4(AHNAK2):c.15674G>C (p.Gly5225Ala)	AHNAK2 (G5225A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281535	NM_138420.4(AHNAK2):c.15673G>C (p.Gly5225Arg)	AHNAK2 (G5125R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100604	NM_138420.4(AHNAK2):c.15671C>T (p.Thr5224Ile)	AHNAK2 (T5224I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235521	NM_138420.4(AHNAK2):c.15658G>T (p.Ala5220Ser)	AHNAK2 (A5120S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517763	NM_138420.4(AHNAK2):c.15605G>A (p.Arg5202His)	AHNAK2 (R5102H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283972	NM_138420.4(AHNAK2):c.15604C>G (p.Arg5202Gly)	AHNAK2 (R5202G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334705	NM_138420.4(AHNAK2):c.15580A>G (p.Lys5194Glu)	AHNAK2 (K5094E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100596	NM_138420.4(AHNAK2):c.15564C>G (p.Ser5188Arg)	AHNAK2 (S5088R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100593	NM_138420.4(AHNAK2):c.15563G>C (p.Ser5188Thr)	AHNAK2 (S5088T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361218	NM_138420.4(AHNAK2):c.15554C>T (p.Ser5185Leu)	AHNAK2 (S5085L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557818	NM_138420.4(AHNAK2):c.15538G>A (p.Ala5180Thr)	AHNAK2 (A5080T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456571	NM_138420.4(AHNAK2):c.15476T>A (p.Leu5159His)	AHNAK2 (L5059H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613797	NM_138420.4(AHNAK2):c.15421G>A (p.Val5141Ile)	AHNAK2 (V5141I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214035	NM_138420.4(AHNAK2):c.15286A>G (p.Ser5096Gly)	AHNAK2 (S5096G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3025876	NM_138420.4(AHNAK2):c.15202G>A (p.Gly5068Ser)	AHNAK2 (G4968S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2222390	NM_138420.4(AHNAK2):c.15194G>C (p.Ser5065Thr)	AHNAK2 (S4965T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213318	NM_138420.4(AHNAK2):c.15164G>A (p.Gly5055Glu)	AHNAK2 (G5055E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207225	NM_138420.4(AHNAK2):c.15164G>C (p.Gly5055Ala)	AHNAK2 (G4955A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366463	NM_138420.4(AHNAK2):c.15163G>C (p.Gly5055Arg)	AHNAK2 (G4955R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248864	NM_138420.4(AHNAK2):c.15140C>T (p.Pro5047Leu)	AHNAK2 (P5047L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278072	NM_138420.4(AHNAK2):c.15047G>A (p.Ser5016Asn)	AHNAK2 (S5016N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478812	NM_138420.4(AHNAK2):c.15016C>G (p.Pro5006Ala)	AHNAK2 (P5006A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278283	NM_138420.4(AHNAK2):c.14908G>A (p.Glu4970Lys)	AHNAK2 (E4970K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314098	NM_138420.4(AHNAK2):c.14881C>A (p.Pro4961Thr)	AHNAK2 (P4861T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241130	NM_138420.4(AHNAK2):c.14877G>T (p.Lys4959Asn)	AHNAK2 (K4859N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217313	NM_138420.4(AHNAK2):c.14803G>T (p.Ala4935Ser)	AHNAK2 (A4835S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400076	NM_138420.4(AHNAK2):c.14671C>T (p.Pro4891Ser)	AHNAK2 (P4891S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100548	NM_138420.4(AHNAK2):c.14653C>A (p.His4885Asn)	AHNAK2 (H4785N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277958	NM_138420.4(AHNAK2):c.14596T>C (p.Tyr4866His)	AHNAK2 (Y4866H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2253628	NM_138420.4(AHNAK2):c.14577G>C (p.Gln4859His)	AHNAK2 (Q4859H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278540	NM_138420.4(AHNAK2):c.14552C>T (p.Ser4851Phe)	AHNAK2 (S4851F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278468	NM_138420.4(AHNAK2):c.14470A>G (p.Lys4824Glu)	AHNAK2 (K4824E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463794	NM_138420.4(AHNAK2):c.14462C>T (p.Pro4821Leu)	AHNAK2 (P4821L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223186	NM_138420.4(AHNAK2):c.14438C>T (p.Pro4813Leu)	AHNAK2 (P4813L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278488	NM_138420.4(AHNAK2):c.14416C>T (p.Pro4806Ser)	AHNAK2 (P4706S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100539	NM_138420.4(AHNAK2):c.14389G>C (p.Val4797Leu)	AHNAK2 (V4797L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470605	NM_138420.4(AHNAK2):c.14377A>G (p.Thr4793Ala)	AHNAK2 (T4693A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100530	NM_138420.4(AHNAK2):c.14350C>T (p.Leu4784Phe)	AHNAK2 (L4684F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622798	NM_138420.4(AHNAK2):c.14350C>A (p.Leu4784Ile)	AHNAK2 (L4784I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375677	NM_138420.4(AHNAK2):c.14312G>A (p.Arg4771Gln)	AHNAK2 (R4671Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303914	NM_138420.4(AHNAK2):c.14213C>T (p.Ser4738Phe)	AHNAK2 (S4638F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537688	NM_138420.4(AHNAK2):c.14198C>T (p.Thr4733Met)	AHNAK2 (T4633M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619726	NM_138420.4(AHNAK2):c.14054A>T (p.Asn4685Ile)	AHNAK2 (N4585I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370089	NM_138420.4(AHNAK2):c.14018A>T (p.His4673Leu)	AHNAK2 (H4673L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2307325	NM_138420.4(AHNAK2):c.14005G>C (p.Glu4669Gln)	AHNAK2 (E4569Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342364	NM_138420.4(AHNAK2):c.13999A>G (p.Ile4667Val)	AHNAK2 (I4667V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300496	NM_138420.4(AHNAK2):c.13970C>T (p.Thr4657Ile)	AHNAK2 (T4557I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276041	NM_138420.4(AHNAK2):c.13940T>G (p.Met4647Arg)	AHNAK2 (M4547R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3278714	NM_138420.4(AHNAK2):c.13939A>G (p.Met4647Val)	AHNAK2 (M4547V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230179	NM_138420.4(AHNAK2):c.13858G>T (p.Asp4620Tyr)	AHNAK2 (D4620Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100498	NM_138420.4(AHNAK2):c.13837G>A (p.Asp4613Asn)	AHNAK2 (D4613N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100495	NM_138420.4(AHNAK2):c.13826G>A (p.Arg4609Gln)	AHNAK2 (R4609Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2507468	NM_138420.4(AHNAK2):c.13789G>C (p.Asp4597His)	AHNAK2 (D4497H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100486	NM_138420.4(AHNAK2):c.13757A>T (p.Asp4586Val)	AHNAK2 (D4486V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100482	NM_138420.4(AHNAK2):c.13751C>T (p.Ala4584Val)	AHNAK2 (A4484V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3100478	NM_138420.4(AHNAK2):c.13750G>A (p.Ala4584Thr)	AHNAK2 (A4484T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100474	NM_138420.4(AHNAK2):c.13743G>T (p.Glu4581Asp)	AHNAK2 (E4481D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207524	NM_138420.4(AHNAK2):c.13732C>T (p.Pro4578Ser)	AHNAK2 (P4478S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341635	NM_138420.4(AHNAK2):c.13730G>A (p.Gly4577Asp)	AHNAK2 (G4477D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278628	NM_138420.4(AHNAK2):c.13715A>T (p.Lys4572Met)	AHNAK2 (K4572M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464689	NM_138420.4(AHNAK2):c.13702G>A (p.Val4568Ile)	AHNAK2 (V4568I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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