ASTN2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001539, LOC130001540 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	BSPRY, C5 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC113839508, LOC113839509 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	FKBP15, FKTN +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC130001667, LOC130001668 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC116186942, LOC116186943 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC121366033, LOC121366034 +3785 more	Copy number gain	See cases	GPathogenic
Select item 152171	GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1	PALM2AKAP2, PAPPA +377 more	Copy number loss	See cases	GPathogenic
Select item 150594	GRCh38/hg38 9q33.1(chr9:116328021-117227757)x1	ASTN2, ASTN2-AS1 +18 more	Copy number loss	See cases	GUncertain significance
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 3319223	NM_001365068.1(ASTN2):c.3615C>G (p.Ile1205Met)	ASTN2 (I1154M +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 221731	GRCh38/hg38 9q33.1(chr9:116522866-117041655)x1	ASTN2, ASTN2-AS1 +9 more	Copy number loss	Premature ovarian failure	GUncertain significance
Select item 155655	GRCh38/hg38 9q33.1(chr9:116587616-116809939)x1	ASTN2, LOC130002464 +3 more	Copy number loss	See cases	GUncertain significance
Select item 58483	GRCh38/hg38 9q33.1(chr9:116588311-117510401)x3	ASTN2, LOC126860748 +6 more	Copy number gain	See cases	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 545375	NC_000009.12:g.(?_116634744)_(116742416_?)del	ASTN2, LOC130002464 +3 more	Deletion	Schizophrenia	GLikely pathogenic
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 144201	GRCh38/hg38 9q33.1(chr9:116657193-116814307)x1	ASTN2, LOC130002464 +3 more	Copy number loss	See cases	GUncertain significance
Select item 2499667	GRCh38/hg38 9q33.1(chr9:116667613-116806157)	ASTN2, LOC130002464 +3 more	Copy number loss	See cases	GUncertain significance
Select item 545377	NC_000009.12:g.(?_116683530)_(116876208_?)del	ASTN2, LOC130002464 +3 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 545376	NC_000009.12:g.(?_116683530)_(116733612_?)del	LOC130002465, LOC130002466 +3 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 1195170	NM_001365068.1(ASTN2):c.2807-35435C>A	ASTN2, LOC130002464 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 912761	NM_012210.4(TRIM32):c.-143C>T	ASTN2, TRIM32	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 11 +1 more	GUncertain significance
Select item 364712	NM_012210.4(TRIM32):c.-133G>C	ASTN2, TRIM32	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 11 +2 more	GBenign
Select item 364713	NM_012210.4(TRIM32):c.-124G>A	ASTN2, TRIM32	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 11 +1 more	GUncertain significance
Select item 364714	NM_012210.4(TRIM32):c.-109T>C	TRIM32, ASTN2	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 11 +1 more	GUncertain significance
Select item 511757	NM_012210.4(TRIM32):c.-94C>T	ASTN2, LOC130002465 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1220919	NM_012210.4(TRIM32):c.-82+86C>T	LOC130002465, ASTN2 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188514	NM_012210.4(TRIM32):c.-81-291A>G	ASTN2, TRIM32	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 674433	NM_012210.4(TRIM32):c.-81-98G>A	ASTN2, TRIM32	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 462941	NC_000009.12:g.(?_116697723)_(116699724_?)del	ASTN2, TRIM32	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3029594	NM_012210.4(TRIM32):c.-6A>G	ASTN2, TRIM32	Single nucleotide variant (5 prime UTR variant +1 more)	TRIM32-related disorder	GLikely benign
Select item 282304	NM_012210.4(TRIM32):c.-5G>A	ASTN2, TRIM32	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 284296	NM_012210.4(TRIM32):c.6T>G (p.Ala2=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2150451	NM_012210.4(TRIM32):c.11C>T (p.Ala4Val)	ASTN2, TRIM32 (A4V)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1079319	NM_012210.4(TRIM32):c.15A>C (p.Ala5=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2171515	NM_012210.4(TRIM32):c.20C>T (p.Ser7Phe)	ASTN2, TRIM32 (S7F)	Single nucleotide variant (missense variant +1 more)	TRIM32-related disorder +1 more	GUncertain significance
Select item 2769381	NM_012210.4(TRIM32):c.21T>A (p.Ser7=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 288819	NM_012210.4(TRIM32):c.24C>A (p.His8Gln)	ASTN2, TRIM32 (H8Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2987058	NM_012210.4(TRIM32):c.27G>T (p.Leu9=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2913518	NM_012210.4(TRIM32):c.27G>A (p.Leu9=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 364715	NM_012210.4(TRIM32):c.27G>C (p.Leu9=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 11 +2 more	GConflicting classifications of pathogenicity
Select item 864083	NM_012210.4(TRIM32):c.32T>C (p.Leu11Pro)	ASTN2, TRIM32 (L11P)	Single nucleotide variant (missense variant +1 more)	Sarcotubular myopathy +4 more	GUncertain significance
Select item 1312887	NM_012210.4(TRIM32):c.40C>G (p.Leu14Val)	ASTN2, TRIM32 (L14V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 934355	NM_012210.4(TRIM32):c.40C>T (p.Leu14Phe)	ASTN2, TRIM32 (L14F)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2861656	NM_012210.4(TRIM32):c.42C>A (p.Leu14=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 653096	NM_012210.4(TRIM32):c.43C>T (p.Arg15Trp)	TRIM32, ASTN2 (R15W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 597474	NM_012210.4(TRIM32):c.44G>A (p.Arg15Gln)	ASTN2, TRIM32 (R15Q)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 947124	NM_012210.4(TRIM32):c.55G>C (p.Glu19Gln)	ASTN2, TRIM32 (E19Q)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2133643	NM_012210.4(TRIM32):c.56A>C (p.Glu19Ala)	ASTN2, TRIM32 (E19A)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2038031	NM_012210.4(TRIM32):c.57A>G (p.Glu19=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 364716	NM_012210.4(TRIM32):c.69C>T (p.Cys23=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 11 +3 more	GConflicting classifications of pathogenicity
Select item 1705156	NM_012210.4(TRIM32):c.73G>T (p.Glu25Ter)	ASTN2, TRIM32 (E25*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy	GLikely pathogenic
Select item 1007266	NM_012210.4(TRIM32):c.75G>C (p.Glu25Asp)	ASTN2, TRIM32 (E25D)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1447219	NM_012210.4(TRIM32):c.86A>G (p.Glu29Gly)	ASTN2, TRIM32 (E29G)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 290216	NM_012210.4(TRIM32):c.90G>A (p.Glu30=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 851419	NM_012210.4(TRIM32):c.97C>T (p.Arg33Cys)	ASTN2, TRIM32 (R33C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 284679	NM_012210.4(TRIM32):c.98G>A (p.Arg33His)	ASTN2, TRIM32 (R33H)	Single nucleotide variant (missense variant +1 more)	Sarcotubular myopathy +2 more	GUncertain significance
Select item 1077195	NM_012210.4(TRIM32):c.99T>C (p.Arg33=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	TRIM32-related disorder +1 more	GLikely benign
Select item 2820674	NM_012210.4(TRIM32):c.111G>A (p.Leu37=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1305942	NM_012210.4(TRIM32):c.112C>T (p.His38Tyr)	ASTN2, TRIM32 (H38Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1135374	NM_012210.4(TRIM32):c.114C>T (p.His38=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign

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