"PreventionGenetics, part of Exact Sciences"[submitter] AND "TBCK"[gen - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1925237	NM_001163435.3(TBCK):c.2572-5del	TBCK	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1298968	NM_001163435.3(TBCK):c.2468C>T (p.Thr823Ile)	TBCK (T651I +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 734374	NM_001163435.3(TBCK):c.2421T>C (p.Arg807=)	TBCK	Single nucleotide variant (synonymous variant)	TBCK-related disorder +1 more	GLikely benign
Select item 1597915	NM_001163435.3(TBCK):c.2236-4del	TBCK	Deletion (intron variant)	not provided +1 more	GBenign
Select item 594992	NM_001163435.3(TBCK):c.2146C>T (p.Pro716Ser)	TBCK (P716S +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3029242	NM_001163435.3(TBCK):c.2060-9del	TBCK	Deletion (intron variant)	TBCK-related disorder	GLikely benign
Select item 741484	NM_001163435.3(TBCK):c.1898-10C>T	TBCK	Single nucleotide variant (intron variant)	TBCK-related disorder +1 more	GLikely benign
Select item 756920	NM_001163435.3(TBCK):c.1872C>T (p.Ile624=)	TBCK	Single nucleotide variant (synonymous variant)	TBCK-related disorder +1 more	GLikely benign
Select item 745102	NM_001163435.3(TBCK):c.1725C>T (p.Pro575=)	TBCK	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1166224	NM_001163435.3(TBCK):c.1707T>C (p.Cys569=)	TBCK	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2636491	NM_001163435.3(TBCK):c.1475dup (p.Ile493fs)	TBCK (I321fs +3 more)	Duplication (frameshift variant)	TBCK-related disorder	GLikely pathogenic
Select item 225236	NM_001163435.3(TBCK):c.1363A>T (p.Lys455Ter)	TBCK (K455* +3 more)	Single nucleotide variant (nonsense)	TBCK-related disorder +1 more	GPathogenic
Select item 729493	NM_001163435.3(TBCK):c.1275G>A (p.Thr425=)	TBCK	Single nucleotide variant (synonymous variant)	TBCK-related disorder +1 more	GBenign/Likely benign
Select item 392187	NM_001163435.3(TBCK):c.1130A>T (p.Asp377Val)	TBCK (D377V +3 more)	Single nucleotide variant (missense variant)	TBCK-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 732178	NM_001163435.3(TBCK):c.974T>C (p.Val325Ala)	TBCK (V153A +3 more)	Single nucleotide variant (missense variant)	TBCK-related disorder +2 more	GBenign/Likely benign
Select item 1416228	NM_001163435.3(TBCK):c.941A>G (p.Asn314Ser)	TBCK (N251S +3 more)	Single nucleotide variant (missense variant)	TBCK-related disorder +1 more	GLikely benign
Select item 1623351	NM_001163435.3(TBCK):c.873A>T (p.Ser291=)	TBCK	Single nucleotide variant (synonymous variant)	TBCK-related disorder +1 more	GLikely benign
Select item 1608332	NM_001163435.3(TBCK):c.658+10G>A	TBCK	Single nucleotide variant (intron variant)	TBCK-related disorder +1 more	GLikely benign
Select item 1165201	NM_001163435.3(TBCK):c.658+9C>G	TBCK	Single nucleotide variant (intron variant)	TBCK-related disorder +1 more	GBenign/Likely benign
Select item 1672475	NM_001163435.3(TBCK):c.465G>A (p.Ser155=)	TBCK	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1598179	NM_001163435.3(TBCK):c.351G>A (p.Leu117=)	TBCK	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 1488156	NM_001163435.3(TBCK):c.290C>T (p.Ala97Val)	TBCK (A97V)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 3054428	NM_001163435.3(TBCK):c.266+10A>G	TBCK	Single nucleotide variant (intron variant)	TBCK-related disorder	GLikely benign
Select item 3043986	NM_001163435.3(TBCK):c.194-6T>G	TBCK	Single nucleotide variant (intron variant)	TBCK-related disorder	GLikely benign
Select item 1548721	NM_001163435.3(TBCK):c.180T>A (p.Ser60=)	TBCK	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1502725	NM_001163435.3(TBCK):c.155G>C (p.Arg52Thr)	TBCK (R52T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1156871	NM_001163435.3(TBCK):c.151C>G (p.Pro51Ala)	TBCK (P51A)	Single nucleotide variant (missense variant +1 more)	TBCK-related disorder +1 more	GLikely benign
Select item 1123237	NM_001163435.3(TBCK):c.18C>T (p.Asp6=)	TBCK	Single nucleotide variant (synonymous variant +1 more)	TBCK-related disorder +1 more	GLikely benign
Select item 3034702	NM_001142416.2(AIMP1):c.-34C>T	AIMP1, LOC129992924 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	AIMP1-related disorder	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 29