TTBK2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148856	GRCh38/hg38 15q15.2-15.3(chr15:42566761-43847106)x1	ADAL, CATSPER2 +69 more	Copy number loss	See cases	GLikely pathogenic
Select item 369091	NM_173500.4(TTBK2):c.*1463G>A	TTBK2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant cerebellar ataxia	GLikely benign
Select item 315960	NM_173500.4(TTBK2):c.*1311G>A	TTBK2	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 11	GLikely benign
Select item 887208	NM_173500.4(TTBK2):c.*1243C>T	TTBK2	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 11	GUncertain significance
Select item 887209	NM_173500.4(TTBK2):c.*1162T>A	TTBK2	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 11	GBenign
Select item 315961	NM_173500.4(TTBK2):c.*1153G>A	TTBK2	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 11 +1 more	GConflicting classifications of pathogenicity
Select item 315962	NM_173500.4(TTBK2):c.*967G>A	TTBK2	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 11	GUncertain significance
Select item 315963	NM_173500.4(TTBK2):c.*966C>T	TTBK2	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 11 +1 more	GBenign/Likely benign
Select item 887210	NM_173500.4(TTBK2):c.*953A>G	TTBK2	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 11	GUncertain significance
Select item 315964	NM_173500.4(TTBK2):c.*847T>C	TTBK2	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 11	GUncertain significance
Select item 315965	NM_173500.4(TTBK2):c.*744G>A	TTBK2	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 11	GUncertain significance
Select item 315966	NM_173500.4(TTBK2):c.*690dup	TTBK2	Duplication (3 prime UTR variant)	Autosomal dominant cerebellar ataxia +1 more	GUncertain significance
Select item 315967	NM_173500.4(TTBK2):c.*678A>G	TTBK2	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 11	GLikely benign
Select item 315968	NM_173500.4(TTBK2):c.*604T>C	TTBK2	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 11	GUncertain significance
Select item 888465	NM_173500.4(TTBK2):c.*598G>A	TTBK2	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 11	GUncertain significance
Select item 315969	NM_173500.4(TTBK2):c.*583A>T	TTBK2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 315970	NM_173500.4(TTBK2):c.*581A>T	TTBK2	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 11	GBenign
Select item 315971	NM_173500.4(TTBK2):c.*580T>A	TTBK2	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 11	GUncertain significance
Select item 884239	NM_173500.4(TTBK2):c.*548C>T	TTBK2	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 11	GUncertain significance
Select item 884240	NM_173500.4(TTBK2):c.*536T>C	TTBK2	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 11	GUncertain significance
Select item 315972	NM_173500.4(TTBK2):c.*507T>G	TTBK2	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 11	GUncertain significance
Select item 884241	NM_173500.4(TTBK2):c.*490T>C	TTBK2	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 11	GBenign
Select item 315973	NM_173500.4(TTBK2):c.*482C>G	TTBK2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 884242	NM_173500.4(TTBK2):c.*185A>G	TTBK2	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 11	GLikely benign
Select item 884243	NM_173500.4(TTBK2):c.*33A>C	TTBK2	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 11	GLikely benign
Select item 425066	NM_173500.4(TTBK2):c.3722A>C (p.Lys1241Thr)	TTBK2 (K1241T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2695315	NM_173500.4(TTBK2):c.3706A>G (p.Ser1236Gly)	TTBK2 (S1236G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363350	NM_173500.4(TTBK2):c.3697C>G (p.Gln1233Glu)	TTBK2 (Q1233E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1976465	NM_173500.4(TTBK2):c.3696C>G (p.Pro1232=)	TTBK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2156589	NM_173500.4(TTBK2):c.3687T>C (p.Thr1229=)	TTBK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1998800	NM_173500.4(TTBK2):c.3675C>T (p.His1225=)	TTBK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 315974	NM_173500.4(TTBK2):c.3669C>T (p.His1223=)	TTBK2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 448759	NM_173500.4(TTBK2):c.3620A>G (p.Glu1207Gly)	TTBK2 (E1207G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 751102	NM_173500.4(TTBK2):c.3612C>T (p.Cys1204=)	TTBK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 634639	NM_173500.4(TTBK2):c.3584_3601del (p.Ser1195_Arg1201delinsTrp)	TTBK2	Deletion (inframe_indel)	Spinocerebellar ataxia type 11	GUncertain significance
Select item 2707934	NM_173500.4(TTBK2):c.3597C>T (p.Ser1199=)	TTBK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1917783	NM_173500.4(TTBK2):c.3589T>G (p.Ser1197Ala)	TTBK2 (S1197A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2503312	NM_173500.4(TTBK2):c.3583T>C (p.Ser1195Pro)	TTBK2 (S1195P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811385	NM_173500.4(TTBK2):c.3581A>C (p.His1194Pro)	TTBK2 (H1194P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2538546	NM_173500.4(TTBK2):c.3545C>A (p.Ser1182Tyr)	TTBK2 (S1182Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 315975	NM_173500.4(TTBK2):c.3543G>A (p.Ser1181=)	TTBK2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2966136	NM_173500.4(TTBK2):c.3541T>G (p.Ser1181Ala)	TTBK2 (S1181A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 886269	NM_173500.4(TTBK2):c.3539G>A (p.Ser1180Asn)	TTBK2 (S1180N)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 11	GUncertain significance
Select item 1933616	NM_173500.4(TTBK2):c.3526C>G (p.His1176Asp)	TTBK2 (H1176D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 744731	NM_173500.4(TTBK2):c.3525C>T (p.His1175=)	TTBK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1963409	NM_173500.4(TTBK2):c.3518G>A (p.Arg1173Gln)	TTBK2 (R1173Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 886270	NM_173500.4(TTBK2):c.3517C>T (p.Arg1173Trp)	TTBK2 (R1173W)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 11	GBenign
Select item 807225	NM_173500.4(TTBK2):c.3497C>T (p.Ser1166Phe)	TTBK2 (S1166F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958728	NM_173500.4(TTBK2):c.3485G>A (p.Arg1162His)	TTBK2 (R1162H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 886271	NM_173500.4(TTBK2):c.3484C>T (p.Arg1162Cys)	TTBK2 (R1162C)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 11 +2 more	GUncertain significance
Select item 1807150	NM_173500.4(TTBK2):c.3471C>T (p.Ser1157=)	TTBK2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 2034493	NM_173500.4(TTBK2):c.3447G>A (p.Arg1149=)	TTBK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1678708	NM_173500.4(TTBK2):c.3445A>G (p.Arg1149Gly)	TTBK2 (R1149G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256338	NM_173500.4(TTBK2):c.3443G>A (p.Arg1148His)	TTBK2 (R1148H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 886272	NM_173500.4(TTBK2):c.3432A>G (p.Pro1144=)	TTBK2	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 11	GUncertain significance
Select item 1256337	NM_173500.4(TTBK2):c.3431C>T (p.Pro1144Leu)	TTBK2 (P1144L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 315976	NM_173500.4(TTBK2):c.3427A>G (p.Ser1143Gly)	TTBK2 (S1143G)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 11 +1 more	GUncertain significance
Select item 735667	NM_173500.4(TTBK2):c.3420A>G (p.Pro1140=)	TTBK2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 315977	NM_173500.4(TTBK2):c.3418C>T (p.Pro1140Ser)	TTBK2 (P1140S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3329750	NM_173500.4(TTBK2):c.3373A>G (p.Thr1125Ala)	TTBK2 (T1125A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3184046	NM_173500.4(TTBK2):c.3368G>A (p.Arg1123Gln)	TTBK2 (R1123Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 448758	NM_173500.4(TTBK2):c.3367C>T (p.Arg1123Trp)	TTBK2 (R1123W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226910	NM_173500.4(TTBK2):c.3365C>G (p.Pro1122Arg)	TTBK2 (P1122R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532520	NM_173500.4(TTBK2):c.3364C>T (p.Pro1122Ser)	TTBK2 (P1122S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 448757	NM_173500.4(TTBK2):c.3357T>G (p.Ser1119=)	TTBK2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2136037	NM_173500.4(TTBK2):c.3344T>C (p.Leu1115Pro)	TTBK2 (L1115P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2582149	NM_173500.4(TTBK2):c.3338A>G (p.Gln1113Arg)	TTBK2 (Q1113R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 887268	NM_173500.4(TTBK2):c.3336C>G (p.Ala1112=)	TTBK2	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 11	GUncertain significance
Select item 315978	NM_173500.4(TTBK2):c.3331C>G (p.Leu1111Val)	TTBK2 (L1111V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1334080	NM_173500.4(TTBK2):c.3329G>T (p.Arg1110Leu)	TTBK2 (R1110L)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 11	GUncertain significance
Select item 71891	NM_173500.4(TTBK2):c.3329G>A (p.Arg1110His)	TTBK2 (R1110H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1210013	NM_173500.4(TTBK2):c.3328C>T (p.Arg1110Cys)	TTBK2 (R1110C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2645257	NM_173500.4(TTBK2):c.3312_3319dup (p.Leu1107fs)	TTBK2 (L1107fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1942843	NM_173500.4(TTBK2):c.3310G>A (p.Asp1104Asn)	TTBK2 (D1104N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2815669	NM_173500.4(TTBK2):c.3298A>C (p.Ser1100Arg)	TTBK2 (S1100R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902982	NM_173500.4(TTBK2):c.3290T>C (p.Val1097Ala)	TTBK2 (V1097A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2682325	NM_173500.4(TTBK2):c.3273-8C>A	TTBK2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1289211	NM_173500.4(TTBK2):c.3273-36A>G	TTBK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259971	NM_173500.4(TTBK2):c.3272+145C>G	TTBK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249901	NM_173500.4(TTBK2):c.3272+117T>C	TTBK2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2096433	NM_173500.4(TTBK2):c.3272+10_3272+12del	TTBK2	Deletion (intron variant)	not provided	GLikely benign
Select item 731307	NM_173500.4(TTBK2):c.3258T>C (p.Pro1086=)	TTBK2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2986546	NM_173500.4(TTBK2):c.3252G>A (p.Thr1084=)	TTBK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 315979	NM_173500.4(TTBK2):c.3251C>T (p.Thr1084Met)	TTBK2 (T1084M)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1921192	NM_173500.4(TTBK2):c.3225T>C (p.Pro1075=)	TTBK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 995303	NM_173500.4(TTBK2):c.3216G>A (p.Gln1072=)	TTBK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2065286	NM_173500.4(TTBK2):c.3210G>T (p.Ser1070=)	TTBK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1987536	NM_173500.4(TTBK2):c.3209C>T (p.Ser1070Leu)	TTBK2 (S1070L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2480881	NM_173500.4(TTBK2):c.3203C>T (p.Ser1068Leu)	TTBK2 (S1068L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2067781	NM_173500.4(TTBK2):c.3199A>G (p.Ser1067Gly)	TTBK2 (S1067G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 315980	NM_173500.4(TTBK2):c.3185C>T (p.Thr1062Ile)	TTBK2 (T1062I)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1035395	NM_173500.4(TTBK2):c.3169G>T (p.Val1057Phe)	TTBK2 (V1057F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023812	NM_173500.4(TTBK2):c.3161C>T (p.Pro1054Leu)	TTBK2 (P1054L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256336	NM_173500.4(TTBK2):c.3130A>G (p.Ile1044Val)	TTBK2 (I1044V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2918103	NM_173500.4(TTBK2):c.3098G>C (p.Ser1033Thr)	TTBK2 (S1033T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 807226	NM_173500.4(TTBK2):c.3081A>G (p.Thr1027=)	TTBK2	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1177126	NM_173500.4(TTBK2):c.3077T>C (p.Leu1026Pro)	TTBK2 (L1026P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2056941	NM_173500.4(TTBK2):c.3060C>T (p.Leu1020=)	TTBK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 805622	NM_173500.4(TTBK2):c.3035C>T (p.Ala1012Val)	TTBK2 (A1012V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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