"TLK2-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2628909	NM_006852.6(TLK2):c.392T>A (p.Leu131Ter)	TLK2 (L131* +2 more)	Single nucleotide variant (nonsense +1 more)	TLK2-related disorder	GLikely pathogenic
Select item 1801109	NM_006852.6(TLK2):c.578A>T (p.His193Leu)	TLK2 (H161L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1098360	NM_006852.6(TLK2):c.754C>T (p.Gln252Ter)	TLK2 (Q103* +3 more)	Single nucleotide variant (nonsense)	See cases +1 more	GLikely pathogenic
Select item 2633135	NM_006852.6(TLK2):c.1964G>C (p.Gly655Ala)	TLK2 (G506A +5 more)	Single nucleotide variant (missense variant)	TLK2-related disorder	GUncertain significance
Select item 2633183	NM_006852.6(TLK2):c.1973C>T (p.Pro658Leu)	TLK2 (P509L +5 more)	Single nucleotide variant (missense variant)	TLK2-related disorder	GUncertain significance
Select item 3051641	NM_006852.6(TLK2):c.2080-9C>T	TLK2	Single nucleotide variant (intron variant)	TLK2-related disorder	GLikely benign

ClinVar