List of variants in gene TTBK2 reported as uncertain significance for cerebellar degeneration

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 47

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HGVS	dbSNP	gnomAD frequency
NM_173500.4(TTBK2):c.*1153G>A	rs781080005	0.00093
NM_173500.4(TTBK2):c.-321C>A	rs760435890	0.00070
NM_173500.4(TTBK2):c.*580T>A	rs544516599	0.00061
NM_173500.4(TTBK2):c.*744G>A	rs769283772	0.00058
NM_173500.4(TTBK2):c.-279C>A	rs866690514	0.00038
NM_173500.4(TTBK2):c.-130G>C	rs886051164	0.00035
NM_173500.4(TTBK2):c.*967G>A	rs569220743	0.00019
NM_173500.4(TTBK2):c.*536T>C	rs902865683	0.00013
NM_173500.4(TTBK2):c.3722A>C (p.Lys1241Thr)	rs36104367	0.00011
NM_173500.4(TTBK2):c.-68+15C>G	rs886051163	0.00010
NM_173500.4(TTBK2):c.*847T>C	rs567667407	0.00006
NM_173500.4(TTBK2):c.3484C>T (p.Arg1162Cys)	rs200437800	0.00005
NM_173500.4(TTBK2):c.*598G>A	rs774535951	0.00003
NM_173500.4(TTBK2):c.2291G>A (p.Arg764Lys)	rs767399781	0.00003
NM_173500.4(TTBK2):c.2295G>T (p.Leu765=)	rs751381521	0.00003
NM_173500.4(TTBK2):c.3418C>T (p.Pro1140Ser)	rs576737530	0.00003
NM_173500.4(TTBK2):c.3539G>A (p.Ser1180Asn)	rs200469913	0.00003
NM_173500.4(TTBK2):c.-282A>C	rs949605219	0.00002
NM_173500.4(TTBK2):c.*1243C>T	rs1182692526	0.00001
NM_173500.4(TTBK2):c.-184G>C	rs1439973590	0.00001
NM_173500.4(TTBK2):c.1173C>G (p.Asn391Lys)	rs759246710	0.00001
NM_173500.4(TTBK2):c.1360C>T (p.Arg454Cys)	rs758352842	0.00001
NM_173500.4(TTBK2):c.1930G>C (p.Ala644Pro)	rs756629999	0.00001
NM_173500.4(TTBK2):c.2344A>G (p.Ile782Val)	rs749726502	0.00001
NM_173500.4(TTBK2):c.304G>T (p.Ala102Ser)	rs201683789	0.00001
NM_173500.4(TTBK2):c.3336C>G (p.Ala1112=)	rs769037057	0.00001
NM_173500.4(TTBK2):c.3427A>G (p.Ser1143Gly)	rs777159553	0.00001
NM_173500.4(TTBK2):c.589G>A (p.Ala197Thr)	rs367612243	0.00001
NM_173500.4(TTBK2):c.*507T>G	rs886051162
NM_173500.4(TTBK2):c.*548C>T	rs1782579071
NM_173500.4(TTBK2):c.*604T>C	rs886051161
NM_173500.4(TTBK2):c.*690dup	rs886051160
NM_173500.4(TTBK2):c.*953A>G	rs934539405
NM_173500.4(TTBK2):c.-125C>G	rs1428784964
NM_173500.4(TTBK2):c.1237G>T (p.Gly413Cys)	rs1889967626
NM_173500.4(TTBK2):c.1498C>A (p.Arg500Ser)	rs577577749
NM_173500.4(TTBK2):c.2107G>A (p.Glu703Lys)
NM_173500.4(TTBK2):c.2476A>G (p.Thr826Ala)
NM_173500.4(TTBK2):c.2720A>G (p.Glu907Gly)	rs1476451255
NM_173500.4(TTBK2):c.2928A>T (p.Pro976=)	rs1567000293
NM_173500.4(TTBK2):c.331G>A (p.Gly111Ser)
NM_173500.4(TTBK2):c.3329G>T (p.Arg1110Leu)	rs146279300
NM_173500.4(TTBK2):c.3432A>G (p.Pro1144=)	rs2061791617
NM_173500.4(TTBK2):c.3584_3601del (p.Ser1195_Arg1201delinsTrp)	rs1566996154
NM_173500.4(TTBK2):c.571C>A (p.Arg191Ser)	rs563297091
NM_173500.4(TTBK2):c.700C>A (p.Gln234Lys)	rs933067569
NM_173500.4(TTBK2):c.820C>A (p.Gln274Lys)

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