ClinVar (all) for Orgtrack (Select 507323) - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1298326	NM_173500.4(TTBK2):c.3466C>T (p.Arg1156Ter)	TTBK2 (R1156*)	Single nucleotide variant (nonsense)	Spinocerebellar ataxia type 11	GLikely pathogenic
Select item 1298325	NM_018012.4(KIF26B):c.2023G>C (p.Asp675His)	KIF26B (D675H)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia	GUncertain significance
Select item 1298324	NM_018012.4(KIF26B):c.1340G>A (p.Gly447Glu)	KIF26B (G447E)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia	GUncertain significance
Select item 1298323	NM_005245.4(FAT1):c.544G>A (p.Gly182Arg)	FAT1 (G182R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1298322	NM_005245.4(FAT1):c.1940C>T (p.Ala647Val)	FAT1 (A647V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1298321	NM_005245.4(FAT1):c.5762G>T (p.Gly1921Val)	FAT1 (G1921V)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia	GUncertain significance
Select item 1298320	NM_005245.4(FAT1):c.6808G>A (p.Asp2270Asn)	FAT1 (D2270N)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia	GUncertain significance
Select item 1298319	NM_005245.4(FAT1):c.8041C>T (p.Pro2681Ser)	FAT1 (P2681S)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia	GUncertain significance
Select item 1298318	NM_001429.4(EP300):c.214C>A (p.Gln72Lys)	EP300 (Q72K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1298317	NM_001447.3(FAT2):c.12899T>C (p.Met4300Thr)	FAT2, SLC36A1 (M4300T)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 45	GUncertain significance
Select item 1298316	NM_001278064.2(GRM1):c.3236C>T (p.Pro1079Leu)	GRM1 (P1079L)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia 44	GUncertain significance
Select item 1298315	NM_018896.5(CACNA1G):c.3792G>T (p.Arg1264Ser)	CACNA1G (R1241S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1298314	NM_021814.5(ELOVL5):c.490G>A (p.Gly164Ser)	ELOVL5 (G164S +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 38	GUncertain significance
Select item 1298313	NM_001365792.1(DAB1):c.209G>A (p.Gly70Asp)	DAB1 (G70D)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 37	GUncertain significance
Select item 1298312	NM_006392.4(NOP56):c.909G>A (p.Ala303=)	NOP56	Single nucleotide variant (synonymous variant +1 more)	Spinocerebellar ataxia type 36	GLikely pathogenic
Select item 1298311	NM_001130698.2(TRPC3):c.949G>A (p.Glu317Lys)	TRPC3 (E244K +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 41	GUncertain significance
Select item 1298310	NM_001127222.2(CACNA1A):c.3414del (p.Thr1139fs)	CACNA1A (T1139fs +2 more)	Deletion (frameshift variant)	Spinocerebellar ataxia type 6	GPathogenic
Select item 1298309	NM_006796.3(AFG3L2):c.2143C>T (p.Leu715Phe)	AFG3L2 (L715F)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 28	GUncertain significance
Select item 1298308	NM_004977.3(KCNC3):c.1876G>T (p.Gly626Trp)	KCNC3 (G550W +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 13	GUncertain significance
Select item 1298307	NM_004977.3(KCNC3):c.1130T>C (p.Leu377Pro)	KCNC3 (L301P +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 13	GUncertain significance
Select item 1298306	NM_013236.4(ATXN10):c.404G>T (p.Gly135Val)	ATXN10 (G135V +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 10	GUncertain significance
Select item 1298305	NM_001377405.1(ATXN7):c.2528C>T (p.Ser843Leu)	ATXN7 (S698L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1298304	NM_001127222.2(CACNA1A):c.5139T>A (p.Phe1713Leu)	CACNA1A (F1713L +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 6	GUncertain significance
Select item 1298303	NM_001127222.2(CACNA1A):c.1583T>C (p.Leu528Pro)	CACNA1A (L528P +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 6	GUncertain significance
Select item 1298302	NM_001127222.2(CACNA1A):c.2345G>C (p.Arg782Pro)	CACNA1A (R782P +2 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 6	GLikely pathogenic
Select item 1298301	NM_001127222.2(CACNA1A):c.3149T>C (p.Ile1050Thr)	CACNA1A (I1050T +2 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 6	GUncertain significance
Select item 1298300	NM_024411.5(PDYN):c.635G>A (p.Arg212Gln)	PDYN, PDYN-AS1 (R212Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1298299	NM_001127222.2(CACNA1A):c.5651T>A (p.Val1884Asp)	CACNA1A (V1884D +3 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 6	GUncertain significance
Select item 1298298	NM_006946.4(SPTBN2):c.1522A>C (p.Asn508His)	SPTBN2 (N508H)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1298297	NM_018012.4(KIF26B):c.2605G>A (p.Gly869Arg)	KIF26B (G869R)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia	GUncertain significance
Select item 1298296	NM_006946.4(SPTBN2):c.6169G>T (p.Ala2057Ser)	SPTBN2 (A2057S)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 5	GUncertain significance
Select item 1298295	NM_001372574.1(ATXN2):c.494T>C (p.Met165Thr)	ATXN2 (M165T +2 more)	Single nucleotide variant (missense variant +1 more)	Spinocerebellar ataxia type 2	GUncertain significance
Select item 1298294	NM_007289.4(MME):c.1095-2A>C	MME	Single nucleotide variant (splice acceptor variant)	Spinocerebellar ataxia 43	GLikely pathogenic
Select item 1298293	NM_198994.3(TGM6):c.1429_1430insTCTCT (p.Gly477fs)	TGM6 (G477fs)	Insertion (frameshift variant)	Spinocerebellar ataxia type 35	GPathogenic
Select item 1298292	NM_001378969.1(KCND3):c.1291C>T (p.Arg431Cys)	KCND3 (R431C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1298291	NM_002739.5(PRKCG):c.107A>G (p.His36Arg)	PRKCG (H36R)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GPathogenic
Select item 1297621	NM_006796.3(AFG3L2):c.1861C>G (p.Leu621Val)	AFG3L2 (L621V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1168111	NM_005245.4(FAT1):c.8991G>A (p.Thr2997=)	FAT1, LOC126807255	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1050086	NM_005245.4(FAT1):c.7130C>T (p.Thr2377Met)	FAT1 (T2377M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 717680	NM_001447.3(FAT2):c.12464C>G (p.Ser4155Cys)	FAT2, SLC36A1 (S4155C)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 710785	NM_004977.3(KCNC3):c.1771A>G (p.Ser591Gly)	KCNC3 (S591G +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely 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 545691	NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys)	CACNA1A (R279C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +6 more	GPathogenic/Likely pathogenic
Select item 518305	NM_002739.5(PRKCG):c.715C>T (p.Arg239Trp)	PRKCG (R239W)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 14	GUncertain significance
Select item 446270	NM_018012.4(KIF26B):c.5710G>A (p.Asp1904Asn)	KIF26B (D1904N)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia +1 more	GConflicting classifications of pathogenicity
Select item 446265	NM_001447.3(FAT2):c.10758G>C (p.Lys3586Asn)	FAT2, SLC36A1 (K3586N)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 45	GUncertain significance
Select item 444336	NM_001080414.4(CCDC88C):c.6026C>T (p.Pro2009Leu)	CCDC88C (P2009L)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 40 +3 more	GUncertain significance
Select item 438855	NM_001278064.2(GRM1):c.2375A>G (p.Tyr792Cys)	GRM1 (Y792C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 437001	NM_198994.3(TGM6):c.691C>T (p.Arg231Ter)	TGM6 (R231*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 337923	NM_198994.3(TGM6):c.1171G>A (p.Val391Met)	TGM6 (V391M)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 35 +1 more	GBenign
Select item 208671	NM_004977.3(KCNC3):c.1268G>A (p.Arg423His)	KCNC3 (R423H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 68440	NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys)	CACNA1A (R2135C +3 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia +5 more	GConflicting classifications of pathogenicity
Select item 66064	NM_001378969.1(KCND3):c.1169G>A (p.Ser390Asn)	KCND3 (S390N)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 19/22 +1 more	GConflicting classifications of pathogenicity
Select item 66062	NM_001378969.1(KCND3):c.1054A>C (p.Thr352Pro)	KCND3 (T352P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 18460	NM_024411.5(PDYN):c.632T>C (p.Leu211Ser)	PDYN-AS1, PDYN (L211S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 13473	NM_004977.3(KCNC3):c.1259G>A (p.Arg420His)	KCNC3 (R420H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 8505	NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln)	CACNA1A (R583Q +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 6 +5 more	GPathogenic
Select item 8495	NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His)	CACNA1A (R1666H +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic

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Items: 58