"GeneDx"[submitter] AND "LOC126862611"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3373323	NM_006852.6(TLK2):c.916G>A (p.Ala306Thr)	LOC126862611, TLK2 (A157T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 524042	NM_006852.6(TLK2):c.947del (p.Tyr316fs)	LOC126862611, TLK2 (Y316fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3252781	NM_006852.6(TLK2):c.950C>T (p.Ala317Val)	LOC126862611, TLK2 (A168V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444583	NM_006852.6(TLK2):c.968+1G>T	LOC126862611, TLK2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1315249	NM_006852.6(TLK2):c.968+6T>C	TLK2, LOC126862611	Single nucleotide variant (intron variant)	not provided	GUncertain significance

ClinVar