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

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3033449	NM_002340.6(LSS):c.1988+9G>A	LSS	Single nucleotide variant (intron variant)	LSS-related disorder	GLikely benign
Select item 1216227	NM_002340.6(LSS):c.1988+8C>T	LSS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 3031482	NM_002340.6(LSS):c.1983C>T (p.Ala661=)	LSS	Single nucleotide variant (synonymous variant)	LSS-related disorder	GLikely benign
Select item 783884	NM_002340.6(LSS):c.1865G>A (p.Arg622Gln)	LSS (R542Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3039002	NM_002340.6(LSS):c.1740C>T (p.Ser580=)	LSS	Single nucleotide variant (synonymous variant)	LSS-related disorder	GLikely benign
Select item 746941	NM_002340.6(LSS):c.1710G>A (p.Gln570=)	LSS	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 775445	NM_002340.6(LSS):c.1548C>T (p.Asn516=)	LSS	Single nucleotide variant (synonymous variant)	LSS-related disorder +1 more	GBenign
Select item 681490	NM_002340.6(LSS):c.1138-4G>T	LSS	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 677221	NM_002340.6(LSS):c.929A>G (p.His310Arg)	LSS (H299R +2 more)	Single nucleotide variant (missense variant)	LSS-related disorder +1 more	GBenign
Select item 2721060	NM_002340.6(LSS):c.927C>G (p.Ala309=)	LSS	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1536738	NM_002340.6(LSS):c.893C>T (p.Ala298Val)	LSS (A218V +2 more)	Single nucleotide variant (missense variant)	LSS-related disorder +1 more	GBenign
Select item 677220	NM_002340.6(LSS):c.524G>A (p.Arg175Gln)	LSS (R164Q +2 more)	Single nucleotide variant (missense variant)	LSS-related disorder +1 more	GBenign
Select item 677219	NM_002340.6(LSS):c.363C>T (p.Ala121=)	LSS	Single nucleotide variant (synonymous variant)	LSS-related disorder +1 more	GBenign
Select item 2042285	NM_002340.6(LSS):c.346C>T (p.Arg116Cys)	LSS (R36C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2063100	NM_002340.6(LSS):c.339C>T (p.His113=)	LSS	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3054304	NM_002340.6(LSS):c.-10T>A	LOC130066869, LSS	Single nucleotide variant (5 prime UTR variant)	LSS-related disorder	GLikely benign