Related gene-specific medical variations for Gene (Select 146057) - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2684073	NM_173500.4(TTBK2):c.934T>A (p.Ser312Thr)	TTBK2 (S312T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684072	NM_173500.4(TTBK2):c.2798T>C (p.Met933Thr)	TTBK2 (M933T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684071	NM_173500.4(TTBK2):c.2293C>G (p.Leu765Val)	TTBK2 (L765V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684070	NM_173500.4(TTBK2):c.1200T>C (p.Ala400=)	TTBK2	Single nucleotide variant (synonymous variant)	not provided	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 1807150	NM_173500.4(TTBK2):c.3471C>T (p.Ser1157=)	TTBK2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1807149	NM_173500.4(TTBK2):c.112G>A (p.Ala38Thr)	TTBK2 (A38T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807147	NM_173500.4(TTBK2):c.2120C>T (p.Pro707Leu)	TTBK2 (P707L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807146	NM_173500.4(TTBK2):c.2484A>G (p.Thr828=)	TTBK2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1807145	NM_173500.4(TTBK2):c.477T>C (p.Cys159=)	TTBK2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1807144	NM_173500.4(TTBK2):c.1973C>T (p.Ala658Val)	TTBK2 (A658V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1807143	NM_173500.4(TTBK2):c.2356T>G (p.Ser786Ala)	TTBK2 (S786A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676353	NM_173500.4(TTBK2):c.217+206C>G	TTBK2	Single nucleotide variant	not provided	GLikely benign
Select item 1676351	NM_173500.4(TTBK2):c.538-186_538-185del	TTBK2	Deletion	not provided	GLikely benign
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 1256340	NM_173500.4(TTBK2):c.822G>C (p.Gln274His)	TTBK2 (Q274H)	Single nucleotide variant (missense variant)	not provided	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 1256336	NM_173500.4(TTBK2):c.3130A>G (p.Ile1044Val)	TTBK2 (I1044V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256335	NM_173500.4(TTBK2):c.2983del (p.Leu995fs)	TTBK2 (L995fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1256334	NM_173500.4(TTBK2):c.1698A>G (p.Thr566=)	TTBK2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1256333	NM_173500.4(TTBK2):c.1439C>A (p.Ala480Glu)	TTBK2 (A480E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256332	NM_173500.4(TTBK2):c.1437T>A (p.Ser479Arg)	TTBK2 (S479R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1256330	NM_173500.4(TTBK2):c.1232dup (p.Asn412fs)	TTBK2 (N412fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 995303	NM_173500.4(TTBK2):c.3216G>A (p.Gln1072=)	TTBK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 995302	NM_173500.4(TTBK2):c.2598G>A (p.Gln866=)	TTBK2	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 995026	NM_173500.4(TTBK2):c.1261G>A (p.Gly421Arg)	TTBK2 (G421R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 807228	NM_173500.4(TTBK2):c.288G>A (p.Leu96=)	TTBK2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 807227	NM_173500.4(TTBK2):c.2060G>T (p.Gly687Val)	TTBK2 (G687V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 805623	NM_173500.4(TTBK2):c.452G>A (p.Arg151His)	TTBK2 (R151H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 805614	NM_173500.4(TTBK2):c.1271T>C (p.Ile424Thr)	TTBK2 (I424T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 448747	NM_173500.4(TTBK2):c.1319T>G (p.Val440Gly)	TTBK2 (V440G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 448745	NM_173500.4(TTBK2):c.108C>T (p.Tyr36=)	TTBK2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 448744	NM_173500.4(TTBK2):c.1060G>A (p.Asp354Asn)	TTBK2 (D354N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 448743	NM_173500.4(TTBK2):c.1051C>A (p.Gln351Lys)	TTBK2 (Q351K)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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Links from Gene

Items: 35