ClinVar for MedGen (Select 346799) - ClinVar

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Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664698	NM_173500.4(TTBK2):c.2476A>G (p.Thr826Ala)	TTBK2 (T826A)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 11	GUncertain significance
Select item 2645259	NM_173500.4(TTBK2):c.2030C>G (p.Thr677Arg)	TTBK2 (T677R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2585448	NM_173500.4(TTBK2):c.331G>A (p.Gly111Ser)	TTBK2 (G111S)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 11	GUncertain significance
Select item 2437391	NM_173500.4(TTBK2):c.820C>A (p.Gln274Lys)	TTBK2 (Q274K)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 11	GUncertain significance
Select item 1709189	NM_173500.4(TTBK2):c.2107G>A (p.Glu703Lys)	TTBK2 (E703K)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 11	GUncertain significance
Select item 1679151	NM_173500.4(TTBK2):c.1675del (p.Gln559fs)	TTBK2 (Q559fs)	Deletion (frameshift variant)	Spinocerebellar ataxia type 11	GLikely pathogenic
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 1325245	NM_173500.4(TTBK2):c.322C>T (p.Gln108Ter)	TTBK2 (Q108*)	Single nucleotide variant (nonsense)	Spinocerebellar ataxia type 11	GLikely pathogenic
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 1030321	NM_173500.4(TTBK2):c.2720A>G (p.Glu907Gly)	TTBK2 (E907G)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 11	GUncertain significance
Select item 1027488	NM_173500.4(TTBK2):c.239T>A (p.Phe80Tyr)	TTBK2 (F80Y)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 11	GLikely pathogenic
Select item 983012	NM_173500.4(TTBK2):c.1498C>A (p.Arg500Ser)	TTBK2 (R500S)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 11	GUncertain significance
Select item 888522	NM_173500.4(TTBK2):c.2344A>G (p.Ile782Val)	TTBK2 (I782V)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 11 +2 more	GUncertain significance
Select item 888521	NM_173500.4(TTBK2):c.2928A>T (p.Pro976=)	TTBK2	Single nucleotide variant (synonymous 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 887518	NM_173500.4(TTBK2):c.-282A>C	TTBK2	Single nucleotide variant (5 prime UTR variant)	Spinocerebellar ataxia type 11	GUncertain significance
Select item 887517	NM_173500.4(TTBK2):c.-184G>C	TTBK2	Single nucleotide variant (5 prime UTR variant)	Spinocerebellar ataxia type 11	GUncertain significance
Select item 887516	NM_173500.4(TTBK2):c.-125C>G	TTBK2	Single nucleotide variant (5 prime UTR variant)	Spinocerebellar ataxia type 11	GUncertain significance
Select item 887329	NM_173500.4(TTBK2):c.304G>T (p.Ala102Ser)	TTBK2 (A102S)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 11	GUncertain significance
Select item 887328	NM_173500.4(TTBK2):c.571C>A (p.Arg191Ser)	TTBK2 (R191S)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 11	GUncertain significance
Select item 887327	NM_173500.4(TTBK2):c.589G>A (p.Ala197Thr)	TTBK2 (A197T)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 11	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 887210	NM_173500.4(TTBK2):c.*953A>G	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 887208	NM_173500.4(TTBK2):c.*1243C>T	TTBK2	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 11	GUncertain significance
Select item 886335	NM_173500.4(TTBK2):c.700C>A (p.Gln234Lys)	TTBK2 (Q234K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 886334	NM_173500.4(TTBK2):c.1173C>G (p.Asn391Lys)	TTBK2 (N391K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 886333	NM_173500.4(TTBK2):c.1237G>T (p.Gly413Cys)	TTBK2 (G413C)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 11	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 886271	NM_173500.4(TTBK2):c.3484C>T (p.Arg1162Cys)	TTBK2 (R1162C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	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 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 884365	NM_173500.4(TTBK2):c.-321C>A	TTBK2	Single nucleotide variant (5 prime UTR variant)	Spinocerebellar ataxia type 11	GUncertain significance
Select item 884308	NM_173500.4(TTBK2):c.1499G>T (p.Arg500Leu)	TTBK2 (R500L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 884242	NM_173500.4(TTBK2):c.*185A>G	TTBK2	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 11	GLikely benign
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 884240	NM_173500.4(TTBK2):c.*536T>C	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 805621	NM_173500.4(TTBK2):c.2980G>T (p.Asp994Tyr)	TTBK2 (D994Y)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 805613	NM_173500.4(TTBK2):c.1100A>T (p.Lys367Ile)	TTBK2 (K367I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 735667	NM_173500.4(TTBK2):c.3420A>G (p.Pro1140=)	TTBK2	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 11 +1 more	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 586781	NM_173500.4(TTBK2):c.3021A>G (p.Leu1007=)	TTBK2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely 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 316005	NM_173500.3(TTBK2):c.-413G>C	TTBK2	Single nucleotide variant (genic upstream transcript variant)	Spinocerebellar ataxia type 11	GBenign
Select item 316004	NM_173500.4(TTBK2):c.-279C>A	TTBK2	Single nucleotide variant (5 prime UTR variant)	Spinocerebellar ataxia type 11	GUncertain significance
Select item 316002	NM_173500.4(TTBK2):c.-250G>C	TTBK2	Single nucleotide variant (5 prime UTR variant)	Spinocerebellar ataxia type 11	GBenign
Select item 316001	NM_173500.4(TTBK2):c.-130G>C	TTBK2	Single nucleotide variant (5 prime UTR variant)	Spinocerebellar ataxia type 11	GUncertain significance
Select item 316000	NM_173500.4(TTBK2):c.-68+15C>G	TTBK2	Single nucleotide variant (intron variant)	Spinocerebellar ataxia type 11	GUncertain significance
Select item 315999	NM_173500.4(TTBK2):c.-51C>T	TTBK2	Single nucleotide variant (5 prime UTR variant)	Spinocerebellar ataxia type 11	GLikely benign
Select item 315998	NM_173500.4(TTBK2):c.595C>T (p.Arg199Trp)	TTBK2 (R199W)	Single nucleotide variant (missense variant)	Spastic ataxia +3 more	GConflicting classifications of pathogenicity
Select item 315997	NM_173500.4(TTBK2):c.937A>G (p.Thr313Ala)	TTBK2 (T313A)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 315996	NM_173500.4(TTBK2):c.980+8C>A	TTBK2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 315995	NM_173500.4(TTBK2):c.1059C>T (p.Ser353=)	TTBK2	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 11 +2 more	GBenign/Likely benign
Select item 315994	NM_173500.4(TTBK2):c.1360C>T (p.Arg454Cys)	TTBK2 (R454C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 315993	NM_173500.4(TTBK2):c.1499G>C (p.Arg500Pro)	TTBK2 (R500P)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 315992	NM_173500.4(TTBK2):c.1555G>C (p.Ala519Pro)	TTBK2 (A519P)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 11 +4 more	GConflicting classifications of pathogenicity
Select item 315991	NM_173500.4(TTBK2):c.1930G>C (p.Ala644Pro)	TTBK2 (A644P)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 11	GUncertain significance
Select item 315990	NM_173500.4(TTBK2):c.2133C>A (p.Phe711Leu)	TTBK2 (F711L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 315989	NM_173500.4(TTBK2):c.2171G>A (p.Gly724Glu)	TTBK2 (G724E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 315988	NM_173500.4(TTBK2):c.2210T>C (p.Ile737Thr)	TTBK2 (I737T)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 315987	NM_173500.4(TTBK2):c.2278C>T (p.Pro760Ser)	TTBK2 (P760S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 315986	NM_173500.4(TTBK2):c.2291G>A (p.Arg764Lys)	TTBK2 (R764K)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 11	GUncertain significance
Select item 315985	NM_173500.4(TTBK2):c.2295G>T (p.Leu765=)	TTBK2	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 11	GUncertain significance
Select item 315984	NM_173500.4(TTBK2):c.2418A>G (p.Pro806=)	TTBK2	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia type 11 +1 more	GBenign
Select item 315983	NM_173500.4(TTBK2):c.2525A>G (p.Glu842Gly)	TTBK2 (E842G)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 11 +1 more	GBenign/Likely benign
Select item 315982	NM_173500.4(TTBK2):c.2831G>A (p.Arg944Gln)	TTBK2 (R944Q)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 11	GLikely benign
Select item 315981	NM_173500.4(TTBK2):c.2941C>G (p.Leu981Val)	TTBK2 (L981V)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 11 +3 more	GBenign/Likely benign
Select item 315980	NM_173500.4(TTBK2):c.3185C>T (p.Thr1062Ile)	TTBK2 (T1062I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 315979	NM_173500.4(TTBK2):c.3251C>T (p.Thr1084Met)	TTBK2 (T1084M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 315978	NM_173500.4(TTBK2):c.3331C>G (p.Leu1111Val)	TTBK2 (L1111V)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 315977	NM_173500.4(TTBK2):c.3418C>T (p.Pro1140Ser)	TTBK2 (P1140S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 315976	NM_173500.4(TTBK2):c.3427A>G (p.Ser1143Gly)	TTBK2 (S1143G)	Single nucleotide variant (missense variant)	not provided +1 more	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 315974	NM_173500.4(TTBK2):c.3669C>T (p.His1223=)	TTBK2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 315973	NM_173500.4(TTBK2):c.*482C>G	TTBK2	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 11	GLikely benign
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 315971	NM_173500.4(TTBK2):c.*580T>A	TTBK2	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 11	GUncertain significance
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 315969	NM_173500.4(TTBK2):c.*583A>T	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 315967	NM_173500.4(TTBK2):c.*678A>G	TTBK2	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 11	GLikely benign
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 315964	NM_173500.4(TTBK2):c.*847T>C	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 315962	NM_173500.4(TTBK2):c.*967G>A	TTBK2	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 11	GUncertain significance
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 315960	NM_173500.4(TTBK2):c.*1311G>A	TTBK2	Single nucleotide variant (3 prime UTR variant)	Spinocerebellar ataxia type 11	GLikely benign
Select item 283506	NM_173500.4(TTBK2):c.-8G>A	TTBK2	Single nucleotide variant (5 prime UTR variant)	not provided +3 more	GBenign
Select item 130647	NM_173500.4(TTBK2):c.2592A>G (p.Glu864=)	TTBK2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 130646	NM_173500.4(TTBK2):c.23T>C (p.Leu8Pro)	TTBK2 (L8P)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 71891	NM_173500.4(TTBK2):c.3329G>A (p.Arg1110His)	TTBK2 (R1110H)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia type 11 +3 more	GConflicting classifications of pathogenicity
Select item 41375	NM_173500.4(TTBK2):c.1306_1307del (p.Asp436fs)	TTBK2 (D436fs)	Microsatellite (frameshift variant)	Spinocerebellar ataxia type 11	GPathogenic
Select item 848	NM_173500.4(TTBK2):c.1287_1288del (p.Glu429fs)	TTBK2 (E429fs)	Microsatellite (frameshift variant)	Spinocerebellar ataxia type 11	GPathogenic
Select item 847	NM_173500.4(TTBK2):c.1329dup (p.Arg444fs)	TTBK2 (R444fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic

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Items: 96