6712[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	GAL3ST3, GPR152 +282 more	Copy number loss	See cases	GPathogenic
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	ACTN3, ACY3 +212 more	Copy number gain	See cases	GPathogenic
Select item 305517	NM_006946.4(SPTBN2):c.*546T>C	SPTBN2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant cerebellar ataxia	GLikely benign
Select item 305518	NM_006946.4(SPTBN2):c.*364C>T	SPTBN2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant cerebellar ataxia	GLikely benign
Select item 305519	NM_006946.4(SPTBN2):c.*228dup	SPTBN2	Duplication (3 prime UTR variant)	Autosomal dominant cerebellar ataxia	GUncertain significance
Select item 305520	NM_006946.4(SPTBN2):c.*121A>G	SPTBN2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant cerebellar ataxia	GUncertain significance
Select item 305521	NM_006946.4(SPTBN2):c.*71G>A	SPTBN2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant cerebellar ataxia	GUncertain significance
Select item 305522	NM_006946.4(SPTBN2):c.*61G>A	SPTBN2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant cerebellar ataxia	GUncertain significance
Select item 3339982	NM_006946.4(SPTBN2):c.*2del	SPTBN2	Deletion (3 prime UTR variant)	not specified	GUncertain significance
Select item 2558229	NM_006946.4(SPTBN2):c.7151G>A (p.Ser2384Asn)	SPTBN2 (S2391N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1801999	NM_006946.4(SPTBN2):c.7133_7134del (p.Glu2378fs)	SPTBN2 (E2378fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2719816	NM_006946.4(SPTBN2):c.7120G>A (p.Gly2374Ser)	SPTBN2 (G2374S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1550080	NM_006946.4(SPTBN2):c.7119C>T (p.Asp2373=)	SPTBN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 619974	NM_006946.4(SPTBN2):c.7109G>A (p.Arg2370His)	SPTBN2 (R2370H)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 14 +2 more	GConflicting classifications of pathogenicity
Select item 982666	NM_006946.4(SPTBN2):c.7103T>C (p.Val2368Ala)	SPTBN2 (V2368A)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 5	GUncertain significance
Select item 931441	NM_006946.4(SPTBN2):c.7096C>T (p.Pro2366Ser)	SPTBN2 (P2366S)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 5	GUncertain significance
Select item 2183146	NM_006946.4(SPTBN2):c.7090G>A (p.Glu2364Lys)	SPTBN2 (E2371K +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1899797	NM_006946.4(SPTBN2):c.7084G>A (p.Gly2362Arg)	SPTBN2 (G2362R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 737571	NM_006946.4(SPTBN2):c.7083C>T (p.Val2361=)	SPTBN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2093677	NM_006946.4(SPTBN2):c.7080C>T (p.Pro2360=)	SPTBN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965499	NM_006946.4(SPTBN2):c.7068C>T (p.Pro2356=)	SPTBN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888485	NM_006946.4(SPTBN2):c.7065G>A (p.Met2355Ile)	SPTBN2 (M2362I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1505861	NM_006946.4(SPTBN2):c.7052G>A (p.Arg2351Gln)	SPTBN2 (R2351Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1256192	NM_006946.4(SPTBN2):c.7051C>T (p.Arg2351Trp)	SPTBN2 (R2351W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1709006	NM_006946.4(SPTBN2):c.7044del (p.Gly2348_Met2349insTer)	SPTBN2	Deletion (frameshift variant +1 more)	Spinocerebellar ataxia type 5	GUncertain significance
Select item 1803013	NM_006946.4(SPTBN2):c.7040G>A (p.Arg2347Gln)	SPTBN2 (R2347Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1256191	NM_006946.4(SPTBN2):c.7039C>T (p.Arg2347Trp)	SPTBN2 (R2347W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 805376	NM_006946.4(SPTBN2):c.7034C>A (p.Thr2345Asn)	SPTBN2 (T2345N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1256190	NM_006946.4(SPTBN2):c.7030A>C (p.Ser2344Arg)	SPTBN2 (S2344R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 305523	NM_006946.4(SPTBN2):c.7020G>A (p.Pro2340=)	SPTBN2	Single nucleotide variant (synonymous variant)	Autosomal dominant cerebellar ataxia +2 more	GBenign/Likely benign
Select item 1403372	NM_006946.4(SPTBN2):c.7004_7012del (p.Gly2335_Pro2337del)	SPTBN2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1256188	NM_006946.4(SPTBN2):c.7006G>A (p.Glu2336Lys)	SPTBN2 (E2336K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2754477	NM_006946.4(SPTBN2):c.7001C>T (p.Ser2334Phe)	SPTBN2 (S2334F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 586491	NM_006946.4(SPTBN2):c.6990G>A (p.Ala2330=)	SPTBN2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2783589	NM_006946.4(SPTBN2):c.6989C>T (p.Ala2330Val)	SPTBN2 (A2330V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2642000	NM_006946.4(SPTBN2):c.6980T>C (p.Ile2327Thr)	SPTBN2 (I2327T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1413250	NM_006946.4(SPTBN2):c.6962G>A (p.Arg2321Gln)	SPTBN2 (R2321Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2996372	NM_006946.4(SPTBN2):c.6953C>T (p.Ser2318Leu)	SPTBN2 (S2318L +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 5 +1 more	GConflicting classifications of pathogenicity
Select item 2412580	NM_006946.4(SPTBN2):c.6950G>C (p.Ser2317Thr)	SPTBN2 (S2324T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 305524	NM_006946.4(SPTBN2):c.6940-11T>C	SPTBN2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1664715	NM_006946.4(SPTBN2):c.6940-14C>A	SPTBN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 805375	NM_006946.4(SPTBN2):c.6929C>T (p.Ala2310Val)	SPTBN2 (A2310V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1256187	NM_006946.4(SPTBN2):c.6906T>C (p.Asp2302=)	SPTBN2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 878939	NM_006946.4(SPTBN2):c.6897-4A>G	SPTBN2	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 5 +1 more	GUncertain significance
Select item 1806934	NM_006946.4(SPTBN2):c.6897-6C>A	SPTBN2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1267352	NM_006946.4(SPTBN2):c.6897-89T>C	SPTBN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 305525	NM_006946.4(SPTBN2):c.6896+11G>A	SPTBN2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 448525	NM_006946.4(SPTBN2):c.6896+9_6896+10del	SPTBN2	Deletion (intron variant)	not specified	GLikely benign
Select item 2874214	NM_006946.4(SPTBN2):c.6890A>C (p.Lys2297Thr)	SPTBN2 (K2297T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2957825	NM_006946.4(SPTBN2):c.6875G>A (p.Arg2292His)	SPTBN2 (R2292H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2996806	NM_006946.4(SPTBN2):c.6874C>T (p.Arg2292Cys)	SPTBN2 (R2299C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684358	NM_006946.4(SPTBN2):c.6868C>T (p.Arg2290Ter)	SPTBN2 (R2290* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1544756	NM_006946.4(SPTBN2):c.6868C>A (p.Arg2290=)	SPTBN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1386723	NM_006946.4(SPTBN2):c.6826G>A (p.Val2276Ile)	SPTBN2 (V2276I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1615321	NM_006946.4(SPTBN2):c.6813C>T (p.His2271=)	SPTBN2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 934191	NM_006946.4(SPTBN2):c.6803T>C (p.Val2268Ala)	SPTBN2 (V2268A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1029116	NM_006946.4(SPTBN2):c.6802G>A (p.Val2268Met)	SPTBN2 (V2268M)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 14 +1 more	GConflicting classifications of pathogenicity
Select item 448524	NM_006946.4(SPTBN2):c.6798G>A (p.Ala2266=)	SPTBN2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 305526	NM_006946.4(SPTBN2):c.6797C>T (p.Ala2266Val)	SPTBN2 (A2266V)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia +2 more	GConflicting classifications of pathogenicity
Select item 1428762	NM_006946.4(SPTBN2):c.6796G>A (p.Ala2266Thr)	SPTBN2 (A2266T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1708624	NM_006946.4(SPTBN2):c.6775A>G (p.Lys2259Glu)	SPTBN2 (K2259E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2050895	NM_006946.4(SPTBN2):c.6766G>A (p.Gly2256Ser)	SPTBN2 (G2256S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1588048	NM_006946.4(SPTBN2):c.6765C>T (p.Leu2255=)	SPTBN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 305527	NM_006946.4(SPTBN2):c.6757G>A (p.Gly2253Arg)	SPTBN2 (G2253R)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia	GUncertain significance
Select item 436851	NM_006946.4(SPTBN2):c.6755G>A (p.Arg2252His)	SPTBN2 (R2252H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1966145	NM_006946.4(SPTBN2):c.6754C>T (p.Arg2252Cys)	SPTBN2 (R2259C +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 586490	NM_006946.4(SPTBN2):c.6752G>A (p.Arg2251Gln)	SPTBN2 (R2251Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 305528	NM_006946.4(SPTBN2):c.6751C>T (p.Arg2251Trp)	SPTBN2 (R2251W)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia +2 more	GConflicting classifications of pathogenicity
Select item 594783	NM_006946.4(SPTBN2):c.6745G>A (p.Val2249Ile)	SPTBN2 (V2249I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 638445	NM_006946.4(SPTBN2):c.6739T>C (p.Tyr2247His)	SPTBN2 (Y2247H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 448523	NM_006946.4(SPTBN2):c.6736G>A (p.Val2246Met)	SPTBN2 (V2246M)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 305529	NM_006946.4(SPTBN2):c.6735C>T (p.Asn2245=)	SPTBN2	Single nucleotide variant (synonymous variant)	Autosomal dominant cerebellar ataxia +1 more	GConflicting classifications of pathogenicity
Select item 1561767	NM_006946.4(SPTBN2):c.6723-4G>A	SPTBN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1086030	NM_006946.4(SPTBN2):c.6723-5C>T	SPTBN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 305530	NM_006946.4(SPTBN2):c.6723-11G>A	SPTBN2	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 5 +1 more	GUncertain significance
Select item 2987633	NM_006946.4(SPTBN2):c.6723-13G>A	SPTBN2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 877376	NM_006946.4(SPTBN2):c.6723-14C>T	SPTBN2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1879205	NM_006946.4(SPTBN2):c.6722+1G>T	SPTBN2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 994478	NM_006946.4(SPTBN2):c.6720C>T (p.Asn2240=)	SPTBN2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1367760	NM_006946.4(SPTBN2):c.6703G>A (p.Gly2235Arg)	SPTBN2 (G2235R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1256186	NM_006946.4(SPTBN2):c.6702C>T (p.Phe2234=)	SPTBN2	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 930223	NM_006946.4(SPTBN2):c.6688G>C (p.Glu2230Gln)	SPTBN2 (E2230Q)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 5	GUncertain significance
Select item 1806935	NM_006946.4(SPTBN2):c.6680G>A (p.Arg2227His)	SPTBN2 (R2227H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 391723	NM_006946.4(SPTBN2):c.6679C>T (p.Arg2227Cys)	SPTBN2 (R2227C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2871755	NM_006946.4(SPTBN2):c.6675G>A (p.Leu2225=)	SPTBN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 305531	NM_006946.4(SPTBN2):c.6674T>C (p.Leu2225Pro)	SPTBN2 (L2225P)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia	GUncertain significance
Select item 2055853	NM_006946.4(SPTBN2):c.6671T>A (p.Met2224Lys)	SPTBN2 (M2224K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 305532	NM_006946.4(SPTBN2):c.6669G>A (p.Gly2223=)	SPTBN2	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 5 +3 more	GBenign/Likely benign
Select item 1806933	NM_006946.4(SPTBN2):c.6657G>A (p.Glu2219=)	SPTBN2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2121781	NM_006946.4(SPTBN2):c.6655G>C (p.Glu2219Gln)	SPTBN2 (E2226Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806932	NM_006946.4(SPTBN2):c.6650C>T (p.Ala2217Val)	SPTBN2 (A2217V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1589212	NM_006946.4(SPTBN2):c.6642G>A (p.Glu2214=)	SPTBN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900991	NM_006946.4(SPTBN2):c.6627G>A (p.Pro2209=)	SPTBN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3169580	NM_006946.4(SPTBN2):c.6626C>T (p.Pro2209Leu)	SPTBN2 (P2216L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 448522	NM_006946.4(SPTBN2):c.6620C>T (p.Thr2207Ile)	SPTBN2 (T2207I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 805373	NM_006946.4(SPTBN2):c.6601G>A (p.Glu2201Lys)	SPTBN2 (E2201K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 761961	NM_006946.4(SPTBN2):c.6600C>T (p.Thr2200=)	SPTBN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 994477	NM_006946.4(SPTBN2):c.6591C>T (p.Ser2197=)	SPTBN2	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 5 +2 more	GUncertain significance
Select item 1049990	NM_006946.4(SPTBN2):c.6580A>G (p.Met2194Val)	SPTBN2 (M2194V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 805372	NM_006946.4(SPTBN2):c.6572C>T (p.Pro2191Leu)	SPTBN2 (P2191L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity

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