"Revvity Omics, Revvity"[submitter] AND "L1CAM"[gene] - ClinVar - NCBI

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

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1693797	NM_001278116.2(L1CAM):c.3550G>A (p.Glu1184Lys)	L1CAM (E1175K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433279	NM_001278116.2(L1CAM):c.2854G>A (p.Val952Met)	L1CAM (V947M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2045420	NM_001278116.2(L1CAM):c.2852A>G (p.Tyr951Cys)	L1CAM (Y946C +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 2433277	NM_001278116.2(L1CAM):c.2593C>T (p.His865Tyr)	L1CAM (H860Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2433278	NM_001278116.2(L1CAM):c.2581_2589del (p.His861_Lys863del)	L1CAM	Deletion (inframe_deletion)	Spastic paraplegia +1 more	GUncertain significance
Select item 580566	NM_001278116.2(L1CAM):c.1433C>A (p.Ala478Asp)	L1CAM (A478D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1324641	NM_001278116.2(L1CAM):c.1429del (p.Tyr477fs)	L1CAM (Y472fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2433275	NM_001278116.2(L1CAM):c.1310T>C (p.Met437Thr)	L1CAM (M432T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1012674	NM_001278116.2(L1CAM):c.1180G>A (p.Val394Met)	L1CAM (V389M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441035	NM_001278116.2(L1CAM):c.1166del (p.Leu389fs)	L1CAM (L384fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1324640	NM_001278116.2(L1CAM):c.1120G>T (p.Glu374Ter)	L1CAM (E369* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2433276	NM_001278116.2(L1CAM):c.1118T>C (p.Val373Ala)	L1CAM (V368A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689340	NM_001278116.2(L1CAM):c.122C>G (p.Ser41Cys)	L1CAM (S36C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance