"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)	Inborn genetic diseases	GUncertain significance
Select item 2536932	NM_138420.4(AHNAK2):c.16955T>C (p.Ile5652Thr)	AHNAK2 (I5552T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2587941	NM_138420.4(AHNAK2):c.16928G>T (p.Gly5643Val)	AHNAK2 (G5643V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259167	NM_138420.4(AHNAK2):c.16889G>A (p.Gly5630Asp)	AHNAK2 (G5530D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2374842	NM_138420.4(AHNAK2):c.16859A>G (p.Gln5620Arg)	AHNAK2 (Q5620R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225662	NM_138420.4(AHNAK2):c.16859A>C (p.Gln5620Pro)	AHNAK2 (Q5620P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511922	NM_138420.4(AHNAK2):c.16844C>T (p.Pro5615Leu)	AHNAK2 (P5515L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247159	NM_138420.4(AHNAK2):c.16803C>A (p.Asp5601Glu)	AHNAK2 (D5601E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479186	NM_138420.4(AHNAK2):c.16781C>T (p.Pro5594Leu)	AHNAK2 (P5494L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400656	NM_138420.4(AHNAK2):c.16741G>A (p.Val5581Ile)	AHNAK2 (V5481I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349466	NM_138420.4(AHNAK2):c.16718C>A (p.Pro5573Gln)	AHNAK2 (P5573Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316723	NM_138420.4(AHNAK2):c.16717C>T (p.Pro5573Ser)	AHNAK2 (P5473S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521064	NM_138420.4(AHNAK2):c.16595C>G (p.Ala5532Gly)	AHNAK2 (A5532G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613134	NM_138420.4(AHNAK2):c.16523C>T (p.Thr5508Met)	AHNAK2 (T5408M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523033	NM_138420.4(AHNAK2):c.16424A>G (p.Gln5475Arg)	AHNAK2 (Q5475R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295398	NM_138420.4(AHNAK2):c.16393G>C (p.Val5465Leu)	AHNAK2 (V5365L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2227323	NM_138420.4(AHNAK2):c.16384A>G (p.Lys5462Glu)	AHNAK2 (K5462E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597535	NM_138420.4(AHNAK2):c.16378A>G (p.Ile5460Val)	AHNAK2 (I5460V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214036	NM_138420.4(AHNAK2):c.16354A>T (p.Asn5452Tyr)	AHNAK2 (N5352Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2300140	NM_138420.4(AHNAK2):c.16265C>G (p.Thr5422Arg)	AHNAK2 (T5322R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334561	NM_138420.4(AHNAK2):c.16186T>C (p.Phe5396Leu)	AHNAK2 (F5396L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551630	NM_138420.4(AHNAK2):c.16154A>G (p.Lys5385Arg)	AHNAK2 (K5285R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400958	NM_138420.4(AHNAK2):c.16153A>G (p.Lys5385Glu)	AHNAK2 (K5285E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290686	NM_138420.4(AHNAK2):c.16147A>G (p.Thr5383Ala)	AHNAK2 (T5283A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608464	NM_138420.4(AHNAK2):c.16058G>T (p.Gly5353Val)	AHNAK2 (G5253V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352277	NM_138420.4(AHNAK2):c.15958G>A (p.Val5320Ile)	AHNAK2 (V5320I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471042	NM_138420.4(AHNAK2):c.15736A>G (p.Met5246Val)	AHNAK2 (M5146V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2356008	NM_138420.4(AHNAK2):c.15674G>C (p.Gly5225Ala)	AHNAK2 (G5225A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281535	NM_138420.4(AHNAK2):c.15673G>C (p.Gly5225Arg)	AHNAK2 (G5125R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235521	NM_138420.4(AHNAK2):c.15658G>T (p.Ala5220Ser)	AHNAK2 (A5120S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517763	NM_138420.4(AHNAK2):c.15605G>A (p.Arg5202His)	AHNAK2 (R5102H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283972	NM_138420.4(AHNAK2):c.15604C>G (p.Arg5202Gly)	AHNAK2 (R5202G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334705	NM_138420.4(AHNAK2):c.15580A>G (p.Lys5194Glu)	AHNAK2 (K5094E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361218	NM_138420.4(AHNAK2):c.15554C>T (p.Ser5185Leu)	AHNAK2 (S5085L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557818	NM_138420.4(AHNAK2):c.15538G>A (p.Ala5180Thr)	AHNAK2 (A5080T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456571	NM_138420.4(AHNAK2):c.15476T>A (p.Leu5159His)	AHNAK2 (L5059H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613797	NM_138420.4(AHNAK2):c.15421G>A (p.Val5141Ile)	AHNAK2 (V5141I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214035	NM_138420.4(AHNAK2):c.15286A>G (p.Ser5096Gly)	AHNAK2 (S5096G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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)	Inborn genetic diseases	GUncertain significance
Select item 2213318	NM_138420.4(AHNAK2):c.15164G>A (p.Gly5055Glu)	AHNAK2 (G5055E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207225	NM_138420.4(AHNAK2):c.15164G>C (p.Gly5055Ala)	AHNAK2 (G4955A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366463	NM_138420.4(AHNAK2):c.15163G>C (p.Gly5055Arg)	AHNAK2 (G4955R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248864	NM_138420.4(AHNAK2):c.15140C>T (p.Pro5047Leu)	AHNAK2 (P5047L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478812	NM_138420.4(AHNAK2):c.15016C>G (p.Pro5006Ala)	AHNAK2 (P5006A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314098	NM_138420.4(AHNAK2):c.14881C>A (p.Pro4961Thr)	AHNAK2 (P4861T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241130	NM_138420.4(AHNAK2):c.14877G>T (p.Lys4959Asn)	AHNAK2 (K4859N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217313	NM_138420.4(AHNAK2):c.14803G>T (p.Ala4935Ser)	AHNAK2 (A4835S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400076	NM_138420.4(AHNAK2):c.14671C>T (p.Pro4891Ser)	AHNAK2 (P4891S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253628	NM_138420.4(AHNAK2):c.14577G>C (p.Gln4859His)	AHNAK2 (Q4859H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463794	NM_138420.4(AHNAK2):c.14462C>T (p.Pro4821Leu)	AHNAK2 (P4821L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223186	NM_138420.4(AHNAK2):c.14438C>T (p.Pro4813Leu)	AHNAK2 (P4813L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470605	NM_138420.4(AHNAK2):c.14377A>G (p.Thr4793Ala)	AHNAK2 (T4693A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622798	NM_138420.4(AHNAK2):c.14350C>A (p.Leu4784Ile)	AHNAK2 (L4784I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375677	NM_138420.4(AHNAK2):c.14312G>A (p.Arg4771Gln)	AHNAK2 (R4671Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303914	NM_138420.4(AHNAK2):c.14213C>T (p.Ser4738Phe)	AHNAK2 (S4638F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537688	NM_138420.4(AHNAK2):c.14198C>T (p.Thr4733Met)	AHNAK2 (T4633M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619726	NM_138420.4(AHNAK2):c.14054A>T (p.Asn4685Ile)	AHNAK2 (N4585I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370089	NM_138420.4(AHNAK2):c.14018A>T (p.His4673Leu)	AHNAK2 (H4673L +1 more)	Single nucleotide variant (missense variant)	not provided +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)	Inborn genetic diseases	GUncertain significance
Select item 2342364	NM_138420.4(AHNAK2):c.13999A>G (p.Ile4667Val)	AHNAK2 (I4667V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300496	NM_138420.4(AHNAK2):c.13970C>T (p.Thr4657Ile)	AHNAK2 (T4557I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276041	NM_138420.4(AHNAK2):c.13940T>G (p.Met4647Arg)	AHNAK2 (M4547R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2230179	NM_138420.4(AHNAK2):c.13858G>T (p.Asp4620Tyr)	AHNAK2 (D4620Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507468	NM_138420.4(AHNAK2):c.13789G>C (p.Asp4597His)	AHNAK2 (D4497H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207524	NM_138420.4(AHNAK2):c.13732C>T (p.Pro4578Ser)	AHNAK2 (P4478S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341635	NM_138420.4(AHNAK2):c.13730G>A (p.Gly4577Asp)	AHNAK2 (G4477D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2464689	NM_138420.4(AHNAK2):c.13702G>A (p.Val4568Ile)	AHNAK2 (V4568I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2457378	NM_138420.4(AHNAK2):c.13657A>G (p.Ser4553Gly)	AHNAK2 (S4553G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588741	NM_138420.4(AHNAK2):c.13612G>A (p.Glu4538Lys)	AHNAK2 (E4438K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373692	NM_138420.4(AHNAK2):c.13535G>A (p.Arg4512His)	AHNAK2 (R4412H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606215	NM_138420.4(AHNAK2):c.13508A>G (p.Gln4503Arg)	AHNAK2 (Q4503R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222522	NM_138420.4(AHNAK2):c.13495A>C (p.Ile4499Leu)	AHNAK2 (I4499L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2382493	NM_138420.4(AHNAK2):c.13489A>G (p.Met4497Val)	AHNAK2 (M4497V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2366744	NM_138420.4(AHNAK2):c.13486G>A (p.Asp4496Asn)	AHNAK2 (D4496N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287098	NM_138420.4(AHNAK2):c.13477A>G (p.Met4493Val)	AHNAK2 (M4393V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2410013	NM_138420.4(AHNAK2):c.13325G>A (p.Ser4442Asn)	AHNAK2 (S4442N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288401	NM_138420.4(AHNAK2):c.13295A>G (p.Asp4432Gly)	AHNAK2 (D4332G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346051	NM_138420.4(AHNAK2):c.13270G>A (p.Val4424Met)	AHNAK2 (V4324M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479613	NM_138420.4(AHNAK2):c.13253C>A (p.Thr4418Lys)	AHNAK2 (T4318K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347542	NM_138420.4(AHNAK2):c.13253C>T (p.Thr4418Met)	AHNAK2 (T4418M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613679	NM_138420.4(AHNAK2):c.13238C>T (p.Pro4413Leu)	AHNAK2 (P4313L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348162	NM_138420.4(AHNAK2):c.13216C>T (p.Pro4406Ser)	AHNAK2 (P4406S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610786	NM_138420.4(AHNAK2):c.13210A>G (p.Asn4404Asp)	AHNAK2 (N4404D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268778	NM_138420.4(AHNAK2):c.13126G>A (p.Gly4376Ser)	AHNAK2 (G4276S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310293	NM_138420.4(AHNAK2):c.13119G>C (p.Glu4373Asp)	AHNAK2 (E4273D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360852	NM_138420.4(AHNAK2):c.13074G>C (p.Gln4358His)	AHNAK2 (Q4358H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374052	NM_138420.4(AHNAK2):c.13063C>G (p.Leu4355Val)	AHNAK2 (L4355V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304180	NM_138420.4(AHNAK2):c.13057G>A (p.Ala4353Thr)	AHNAK2 (A4353T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525888	NM_138420.4(AHNAK2):c.13039A>T (p.Ser4347Cys)	AHNAK2 (S4347C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530648	NM_138420.4(AHNAK2):c.13033C>G (p.His4345Asp)	AHNAK2 (H4245D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2263645	NM_138420.4(AHNAK2):c.13033C>T (p.His4345Tyr)	AHNAK2 (H4345Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313762	NM_138420.4(AHNAK2):c.13003C>T (p.Pro4335Ser)	AHNAK2 (P4235S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531155	NM_138420.4(AHNAK2):c.12994G>T (p.Val4332Leu)	AHNAK2 (V4332L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596715	NM_138420.4(AHNAK2):c.12951C>G (p.Ile4317Met)	AHNAK2 (I4217M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270281	NM_138420.4(AHNAK2):c.12929T>C (p.Val4310Ala)	AHNAK2 (V4210A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405978	NM_138420.4(AHNAK2):c.12925G>A (p.Gly4309Arg)	AHNAK2 (G4309R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591029	NM_138420.4(AHNAK2):c.12901C>T (p.Pro4301Ser)	AHNAK2 (P4301S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2239715	NM_138420.4(AHNAK2):c.12890A>G (p.Lys4297Arg)	AHNAK2 (K4197R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314890	NM_138420.4(AHNAK2):c.12875C>G (p.Thr4292Ser)	AHNAK2 (T4192S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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