ASTN2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2375521	NM_001365068.1(ASTN2):c.4016G>A (p.Arg1339Gln)	ASTN2 (R391Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234269	NM_001365068.1(ASTN2):c.4015C>T (p.Arg1339Trp)	ASTN2 (R1339W +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3035080	NM_001365068.1(ASTN2):c.3999C>T (p.Tyr1333=)	ASTN2	Single nucleotide variant (synonymous variant +1 more)	ASTN2-related disorder	GLikely benign
Select item 757553	NM_001365068.1(ASTN2):c.3996G>A (p.Thr1332=)	ASTN2	Single nucleotide variant (synonymous variant +2 more)	ASTN2-related disorder +1 more	GLikely benign
Select item 3130580	NM_001365068.1(ASTN2):c.3959C>T (p.Thr1320Met)	ASTN2 (T1269M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307493	NM_001365068.1(ASTN2):c.3901G>A (p.Glu1301Lys)	ASTN2 (E1297K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130579	NM_001365068.1(ASTN2):c.3884A>G (p.Tyr1295Cys)	ASTN2 (Y347C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130578	NM_001365068.1(ASTN2):c.3875C>T (p.Thr1292Ile)	ASTN2 (T344I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709263	NM_001365068.1(ASTN2):c.3863G>T (p.Ser1288Ile)	ASTN2 (S1288I +4 more)	Single nucleotide variant (missense variant)	ASTN2-related disorder +1 more	GLikely benign
Select item 2542994	NM_001365068.1(ASTN2):c.3850G>A (p.Ala1284Thr)	ASTN2 (A1233T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332292	NM_001365068.1(ASTN2):c.3845G>A (p.Arg1282Gln)	ASTN2 (R1282Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 792133	NM_001365068.1(ASTN2):c.3844C>A (p.Arg1282=)	ASTN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2250018	NM_001365068.1(ASTN2):c.3821G>A (p.Ser1274Asn)	ASTN2 (S1274N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273605	NM_001365068.1(ASTN2):c.3803G>A (p.Arg1268Gln)	ASTN2 (R1264Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060454	NM_001365068.1(ASTN2):c.3782+9G>T	ASTN2	Single nucleotide variant (intron variant)	ASTN2-related disorder	GBenign
Select item 2513623	NM_001365068.1(ASTN2):c.3678G>A (p.Met1226Ile)	ASTN2 (M278I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130576	NM_001365068.1(ASTN2):c.3614T>C (p.Ile1205Thr)	ASTN2 (I1154T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222144	NM_001365068.1(ASTN2):c.3599A>G (p.Glu1200Gly)	ASTN2 (E1149G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1803750	NM_001365068.1(ASTN2):c.3598+1G>A	ASTN2	Single nucleotide variant (splice donor variant)	See cases	GUncertain significance
Select item 3130575	NM_001365068.1(ASTN2):c.3448A>T (p.Ser1150Cys)	ASTN2 (S1099C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130574	NM_001365068.1(ASTN2):c.3448A>G (p.Ser1150Gly)	ASTN2 (S1099G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783557	NM_001365068.1(ASTN2):c.3445G>A (p.Val1149Ile)	ASTN2 (V1098I +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2532182	NM_001365068.1(ASTN2):c.3422G>A (p.Arg1141Gln)	ASTN2 (R1137Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 708046	NM_001365068.1(ASTN2):c.3401C>T (p.Thr1134Ile)	ASTN2 (T1083I +4 more)	Single nucleotide variant (missense variant)	ASTN2-related disorder +1 more	GBenign
Select item 3130573	NM_001365068.1(ASTN2):c.3395T>G (p.Leu1132Arg)	ASTN2 (L1081R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 545374	NC_000009.12:g.(?_116611967)_(116683530_?)del	ASTN2	Deletion	Autism	GLikely pathogenic
Select item 2558972	NM_001365068.1(ASTN2):c.3339C>A (p.Asp1113Glu)	ASTN2 (D214E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130571	NM_001365068.1(ASTN2):c.3298G>A (p.Asp1100Asn)	ASTN2 (D1100N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484406	NM_001365068.1(ASTN2):c.3257A>T (p.Glu1086Val)	ASTN2 (E187V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787344	NM_001365068.1(ASTN2):c.3204G>A (p.Pro1068=)	ASTN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2512596	NM_001365068.1(ASTN2):c.3157G>A (p.Ala1053Thr)	ASTN2 (A1002T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784077	NM_001365068.1(ASTN2):c.3156C>T (p.Ser1052=)	ASTN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3130570	NM_001365068.1(ASTN2):c.3130G>A (p.Asp1044Asn)	ASTN2 (D1040N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325722	NM_001365068.1(ASTN2):c.3044C>T (p.Thr1015Ile)	ASTN2 (T1015I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724847	NM_001365068.1(ASTN2):c.3027T>A (p.Arg1009=)	ASTN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3130569	NM_001365068.1(ASTN2):c.3025C>T (p.Arg1009Cys)	ASTN2 (R1005C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339710	NM_001365068.1(ASTN2):c.2962C>T (p.His988Tyr)	ASTN2 (H40Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718550	NM_001365068.1(ASTN2):c.2889G>A (p.Met963Ile)	ASTN2 (M64I +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2512088	NM_001365068.1(ASTN2):c.2884C>G (p.Gln962Glu)	ASTN2 (Q14E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 725499	NM_001365068.1(ASTN2):c.2806+9G>A	ASTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3040812	NM_001365068.1(ASTN2):c.2806+8C>T	ASTN2	Single nucleotide variant (intron variant)	ASTN2-related disorder	GLikely benign
Select item 2481273	NM_001365068.1(ASTN2):c.2740C>T (p.Leu914Phe)	ASTN2 (L863F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468189	NM_001365068.1(ASTN2):c.2693A>G (p.Gln898Arg)	ASTN2 (Q847R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343074	NM_001365068.1(ASTN2):c.2669G>A (p.Arg890Gln)	ASTN2 (R890Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2634046	NM_001365068.1(ASTN2):c.2639T>G (p.Val880Gly)	ASTN2 (V829G +2 more)	Single nucleotide variant (missense variant)	ASTN2-related disorder	GUncertain significance
Select item 3058959	NM_001365068.1(ASTN2):c.2620G>A (p.Ala874Thr)	ASTN2 (A823T +2 more)	Single nucleotide variant (missense variant)	ASTN2-related disorder	GBenign
Select item 708946	NM_001365068.1(ASTN2):c.2601G>A (p.Lys867=)	ASTN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732240	NM_001365068.1(ASTN2):c.2594G>A (p.Arg865His)	ASTN2 (R814H +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2268363	NM_001365068.1(ASTN2):c.2578C>T (p.Arg860Trp)	ASTN2 (R856W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130568	NM_001365068.1(ASTN2):c.2573G>A (p.Arg858Gln)	ASTN2 (R858Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509952	NM_001365068.1(ASTN2):c.2572C>T (p.Arg858Trp)	ASTN2 (R854W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568821	NM_001365068.1(ASTN2):c.2554C>T (p.Pro852Ser)	ASTN2 (P801S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037418	NM_001365068.1(ASTN2):c.2522-3C>T	ASTN2	Single nucleotide variant (intron variant)	ASTN2-related disorder	GBenign
Select item 3040520	NM_001365068.1(ASTN2):c.2460G>C (p.Pro820=)	ASTN2	Single nucleotide variant (synonymous variant)	ASTN2-related disorder	GLikely benign
Select item 151949	GRCh38/hg38 9q33.1(chr9:116739079-116814248)x1	ASTN2	Copy number loss	See cases	GLikely benign
Select item 153524	GRCh38/hg38 9q33.1(chr9:116747886-116862759)x1	ASTN2	Copy number loss	See cases	GLikely pathogenic
Select item 2335580	NM_001365068.1(ASTN2):c.2336A>G (p.His779Arg)	ASTN2 (H779R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034921	NM_001365068.1(ASTN2):c.2271C>T (p.Cys757=)	ASTN2	Single nucleotide variant (synonymous variant)	ASTN2-related disorder	GLikely benign
Select item 2472094	NM_001365068.1(ASTN2):c.2257C>T (p.Leu753Phe)	ASTN2 (L702F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035649	NM_001365068.1(ASTN2):c.2250C>T (p.Cys750=)	ASTN2	Single nucleotide variant (synonymous variant)	ASTN2-related disorder	GLikely benign
Select item 2375727	NM_001365068.1(ASTN2):c.2206G>A (p.Gly736Ser)	ASTN2 (G732S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285363	NM_001365068.1(ASTN2):c.2183C>G (p.Ser728Trp)	ASTN2 (S724W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130567	NM_001365068.1(ASTN2):c.2180C>G (p.Thr727Ser)	ASTN2 (T727S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130566	NM_001365068.1(ASTN2):c.2063T>C (p.Met688Thr)	ASTN2 (M684T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719183	NM_001365068.1(ASTN2):c.2030C>T (p.Ser677Leu)	ASTN2 (S626L +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3039967	NM_001365068.1(ASTN2):c.2013C>T (p.Asp671=)	ASTN2	Single nucleotide variant (synonymous variant)	ASTN2-related disorder	GLikely benign
Select item 2351205	NM_001365068.1(ASTN2):c.1970G>A (p.Arg657Gln)	ASTN2 (R606Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508849	NM_001365068.1(ASTN2):c.1969C>T (p.Arg657Trp)	ASTN2 (R653W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 749841	NM_001365068.1(ASTN2):c.1899G>A (p.Ala633=)	ASTN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3130565	NM_001365068.1(ASTN2):c.1876C>G (p.Pro626Ala)	ASTN2 (P575A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031644	NM_001365068.1(ASTN2):c.1869G>A (p.Thr623=)	ASTN2	Single nucleotide variant (synonymous variant)	ASTN2-related disorder	GLikely benign
Select item 762262	NM_001365068.1(ASTN2):c.1863C>T (p.Leu621=)	ASTN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3039475	NM_001365068.1(ASTN2):c.1812G>A (p.Pro604=)	ASTN2	Single nucleotide variant (synonymous variant)	ASTN2-related disorder	GLikely benign
Select item 3130564	NM_001365068.1(ASTN2):c.1766T>G (p.Leu589Trp)	ASTN2 (L585W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364669	NM_001365068.1(ASTN2):c.1684C>T (p.Pro562Ser)	ASTN2 (P511S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059625	NM_001365068.1(ASTN2):c.1641C>T (p.His547=)	ASTN2	Single nucleotide variant (synonymous variant)	ASTN2-related disorder	GBenign
Select item 2375012	NM_001365068.1(ASTN2):c.1619C>A (p.Ala540Asp)	ASTN2 (A540D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130561	NM_001365068.1(ASTN2):c.1528G>T (p.Val510Leu)	ASTN2 (V510L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240419	NM_001365068.1(ASTN2):c.1487A>C (p.Lys496Thr)	ASTN2 (K496T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1248446	NM_001365068.1(ASTN2):c.1482G>A (p.Pro494=)	ASTN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773513	NM_001365068.1(ASTN2):c.1467C>T (p.Ser489=)	ASTN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1296977	NM_001365068.1(ASTN2):c.1424-13C>T	ASTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2322301	NM_001365068.1(ASTN2):c.1396C>A (p.His466Asn)	ASTN2 (H415N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549252	NM_001365068.1(ASTN2):c.1345A>G (p.Met449Val)	ASTN2 (M398V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271011	NM_001365068.1(ASTN2):c.1277G>A (p.Gly426Asp)	ASTN2 (G426D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049844	NM_001365068.1(ASTN2):c.1147A>C (p.Lys383Gln)	ASTN2 (K383Q)	Single nucleotide variant (missense variant +1 more)	ASTN2-related disorder	GLikely benign
Select item 3035665	NM_001365068.1(ASTN2):c.1123C>T (p.Arg375Cys)	ASTN2 (R375C)	Single nucleotide variant (missense variant +1 more)	ASTN2-related disorder +1 more	GLikely benign
Select item 3047489	NM_001365068.1(ASTN2):c.1029G>A (p.Ala343=)	ASTN2	Single nucleotide variant (synonymous variant +1 more)	ASTN2-related disorder	GLikely benign
Select item 3046699	NM_001365068.1(ASTN2):c.1028C>T (p.Ala343Val)	ASTN2 (A343V)	Single nucleotide variant (missense variant +1 more)	ASTN2-related disorder	GLikely benign
Select item 3130586	NM_001365068.1(ASTN2):c.914C>T (p.Ala305Val)	ASTN2 (A305V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130585	NM_001365068.1(ASTN2):c.908G>T (p.Arg303Met)	ASTN2 (R303M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130584	NM_001365068.1(ASTN2):c.905C>T (p.Pro302Leu)	ASTN2 (P302L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3064184	NM_001365068.1(ASTN2):c.892G>C (p.Asp298His)	ASTN2 (D298H)	Single nucleotide variant (missense variant)	Sarcotubular myopathy	GUncertain significance
Select item 2317250	NM_001365068.1(ASTN2):c.872A>G (p.Asp291Gly)	ASTN2 (D291G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787707	NM_001365068.1(ASTN2):c.798G>A (p.Glu266=)	ASTN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1175796	NM_001365068.1(ASTN2):c.792G>A (p.Ala264=)	ASTN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719348	NM_001365068.1(ASTN2):c.769T>A (p.Ser257Thr)	ASTN2 (S257T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 768325	NM_001365068.1(ASTN2):c.705G>A (p.Lys235=)	ASTN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2611073	NM_001365068.1(ASTN2):c.690G>C (p.Gln230His)	ASTN2 (Q230H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314292	NM_001365068.1(ASTN2):c.689A>G (p.Gln230Arg)	ASTN2 (Q230R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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