"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC130068 - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1558003	NM_006014.5(LAGE3):c.188+10C>G	LAGE3, LOC130068876	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 789503	NM_006014.5(LAGE3):c.179C>T (p.Pro60Leu)	LAGE3, LOC130068876 (P60L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2637107	NM_006014.5(LAGE3):c.169C>T (p.Arg57Ter)	LAGE3, LOC130068876 (R57*)	Single nucleotide variant (nonsense)	LAGE3-related disorder	GUncertain significance
Select item 2629511	NM_006014.5(LAGE3):c.109G>A (p.Ala37Thr)	LAGE3, LOC130068876 (A37T)	Single nucleotide variant (missense variant)	LAGE3-related disorder	GUncertain significance
Select item 2637333	NM_006014.5(LAGE3):c.95C>T (p.Ala32Val)	LAGE3, LOC130068876 (A32V)	Single nucleotide variant (missense variant)	LAGE3-related disorder	GUncertain significance
Select item 741350	NM_006014.5(LAGE3):c.91G>A (p.Ala31Thr)	LAGE3, LOC130068876 (A31T)	Single nucleotide variant (missense variant)	LAGE3-related disorder +1 more	GBenign
Select item 3058085	NM_006014.5(LAGE3):c.54G>C (p.Arg18=)	LAGE3, LOC130068876	Single nucleotide variant (synonymous variant)	LAGE3-related disorder	GLikely benign
Select item 3058093	NM_006014.5(LAGE3):c.52C>A (p.Arg18=)	LAGE3, LOC130068876	Single nucleotide variant (synonymous variant)	LAGE3-related disorder	GLikely benign
Select item 2144225	NM_006014.5(LAGE3):c.28G>A (p.Gly10Arg)	LAGE3, LOC130068876 (G10R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1422711	NM_006014.5(LAGE3):c.27C>T (p.Gly9=)	LAGE3, LOC130068876	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign