"SIB Swiss Institute of Bioinformatics"[submitter] AND "TLK2"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 617935	NM_006852.6(TLK2):c.37C>T (p.Gln13Ter)	TLK2 (Q13* +1 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal dominant 57	GPathogenic
Select item 617928	NM_006852.6(TLK2):c.181C>T (p.Arg61Ter)	TLK2 (R61* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 617923	NM_006852.6(TLK2):c.202G>T (p.Glu68Ter)	TLK2 (E68* +1 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal dominant 57	GPathogenic
Select item 617921	NM_006852.6(TLK2):c.777C>A (p.Tyr259Ter)	TLK2 (Y110* +3 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 57 +1 more	GPathogenic/Likely pathogenic
Select item 617919	NM_006852.6(TLK2):c.784C>T (p.Arg262Ter)	TLK2 (R113* +3 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 57 +1 more	GPathogenic
Select item 548937	NM_006852.6(TLK2):c.890G>A (p.Gly297Asp)	TLK2 (G297D +3 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 57	GConflicting classifications of pathogenicity
Select item 617933	NM_006852.6(TLK2):c.907C>T (p.Arg303Ter)	LOC126862611, TLK2 (R154* +3 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 548935	NM_006852.6(TLK2):c.989C>A (p.Ser330Ter)	TLK2 (S330* +3 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 57	GPathogenic
Select item 617926	NM_006852.6(TLK2):c.1015C>T (p.Arg339Trp)	TLK2 (R190W +3 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 57 +1 more	GConflicting classifications of pathogenicity
Select item 617916	NM_006852.6(TLK2):c.1016G>A (p.Arg339Gln)	TLK2 (R190Q +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 617932	NM_006852.6(TLK2):c.1273G>A (p.Glu425Lys)	TLK2 (E276K +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 57	GUncertain significance
Select item 617910	NM_006852.6(TLK2):c.1412A>G (p.His471Arg)	TLK2 (H322R +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 57	GLikely pathogenic
Select item 617930	NM_006852.6(TLK2):c.1487A>G (p.His496Arg)	TLK2 (H347R +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 57	GLikely pathogenic
Select item 617931	NM_006852.6(TLK2):c.1636C>T (p.Arg546Trp)	TLK2 (R397W +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 57 +1 more	GPathogenic/Likely pathogenic
Select item 617937	NM_006852.6(TLK2):c.1651C>T (p.Gln551Ter)	TLK2 (Q402* +4 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 57	GPathogenic
Select item 617906	NM_006852.6(TLK2):c.1819G>A (p.Asp607Asn)	TLK2 (D458N +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 57	GLikely pathogenic
Select item 617915	NM_006852.6(TLK2):c.1973C>G (p.Pro658Arg)	TLK2 (P509R +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 57	GLikely pathogenic
Select item 489247	NM_006852.6(TLK2):c.2092C>T (p.Arg698Ter)	TLK2 (R698* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 617922	NM_006852.6(TLK2):c.2170C>T (p.Arg724Ter)	TLK2 (R575* +4 more)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 57 +1 more	GConflicting classifications of pathogenicity