"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1344425	NM_001278116.2(L1CAM):c.*383C>T	L1CAM	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 1344434	NM_001278116.2(L1CAM):c.3169G>A (p.Glu1057Lys)	L1CAM (E1052K +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1344433	NM_001278116.2(L1CAM):c.3000C>T (p.Gly1000=)	L1CAM	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1344431	NM_001278116.2(L1CAM):c.2988C>T (p.Thr996=)	L1CAM	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 92928	NM_001278116.2(L1CAM):c.2872C>G (p.Leu958Val)	L1CAM (L958V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 158794	NM_001278116.2(L1CAM):c.2537G>T (p.Arg846Leu)	L1CAM (R846L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1344430	NM_001278116.2(L1CAM):c.2413G>C (p.Gly805Arg)	L1CAM (G800R +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 92925	NM_001278116.2(L1CAM):c.2307C>T (p.Ser769=)	L1CAM	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +4 more	GBenign
Select item 92924	NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile)	L1CAM (V768I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 698150	NM_001278116.2(L1CAM):c.2232C>T (p.Asn744=)	L1CAM	Single nucleotide variant (synonymous variant)	Spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 211338	NM_001278116.2(L1CAM):c.2211G>A (p.Pro737=)	L1CAM	Single nucleotide variant (synonymous variant)	Spastic paraplegia +4 more	GBenign/Likely benign
Select item 92923	NM_001278116.2(L1CAM):c.2209-6C>T	L1CAM	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1344429	NM_001278116.2(L1CAM):c.2209-9C>T	L1CAM	Single nucleotide variant (intron variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 167233	NM_001278116.2(L1CAM):c.1977T>C (p.Pro659=)	L1CAM	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 435686	NM_001278116.2(L1CAM):c.1759G>C (p.Gly587Arg)	L1CAM (G587R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 211336	NM_001278116.2(L1CAM):c.1581A>C (p.Thr527=)	L1CAM	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 194170	NM_001278116.2(L1CAM):c.1547-4T>A	L1CAM	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 1240858	NM_001278116.2(L1CAM):c.1293G>A (p.Ala431=)	L1CAM	Single nucleotide variant (synonymous variant)	Spastic paraplegia +3 more	GBenign/Likely benign
Select item 92918	NM_001278116.2(L1CAM):c.1268-10C>T	L1CAM	Single nucleotide variant (intron variant)	Spastic paraplegia +4 more	GBenign
Select item 1344426	NM_001278116.2(L1CAM):c.1147C>T (p.Arg383Trp)	L1CAM (R378W +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 158796	NM_001278116.2(L1CAM):c.855C>T (p.Ala285=)	L1CAM	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 92934	NM_001278116.2(L1CAM):c.720G>A (p.Pro240=)	L1CAM	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 1344436	NM_001278116.2(L1CAM):c.644G>A (p.Gly215Asp)	L1CAM (G210D +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344435	NM_001278116.2(L1CAM):c.401-7C>G	L1CAM	Single nucleotide variant (intron variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1344427	NM_001278116.2(L1CAM):c.198-8G>A	L1CAM	Single nucleotide variant (intron variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1344428	NM_001278116.2(L1CAM):c.198-9C>T	L1CAM	Single nucleotide variant (intron variant)	Spastic paraplegia +1 more	GBenign/Likely benign
Select item 193094	NM_001278116.2(L1CAM):c.36C>A (p.Leu12=)	L1CAM	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign

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Items: 27