"PreventionGenetics, part of Exact Sciences"[submitter] AND "LCK"[gene - ClinVar - NCBI

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

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 785762	NM_005356.5(LCK):c.281G>A (p.Ser94Asn)	LCK (S94N)	Single nucleotide variant (missense variant)	LCK-related disorder +1 more	GLikely benign
Select item 793112	NM_005356.5(LCK):c.378-10C>T	LCK	Single nucleotide variant (intron variant)	LCK-related disorder +1 more	GLikely benign
Select item 2712338	NM_005356.5(LCK):c.486G>A (p.Ser162=)	LCK	Single nucleotide variant (synonymous variant)	LCK-related disorder +1 more	GLikely benign
Select item 1495680	NM_005356.5(LCK):c.504G>A (p.Arg168=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency +1 more	GConflicting classifications of pathogenicity
Select item 569666	NM_005356.5(LCK):c.601G>A (p.Gly201Ser)	LCK (G201S)	Single nucleotide variant (missense variant)	LCK-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 798021	NM_005356.5(LCK):c.785-5C>T	LCK	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to LCK deficiency +1 more	GLikely benign
Select item 1429509	NM_005356.5(LCK):c.1293G>A (p.Thr431=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency +1 more	GLikely benign
Select item 1149766	NM_005356.5(LCK):c.1464C>T (p.Asp488=)	LCK	Single nucleotide variant (synonymous variant)	Severe combined immunodeficiency due to LCK deficiency +1 more	GLikely benign
Select item 2637146	NM_005356.5(LCK):c.1506G>C (p.Glu502Asp)	LCK (E451D +1 more)	Single nucleotide variant (missense variant)	LCK-related disorder	GUncertain significance