"PreventionGenetics, part of Exact Sciences"[submitter] AND "L1CAM"[ge - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2995235	NM_001278116.2(L1CAM):c.3763G>A (p.Ala1255Thr)	L1CAM (A1251T +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GBenign/Likely benign
Select item 1697985	NM_001278116.2(L1CAM):c.3671C>T (p.Ser1224Leu)	L1CAM (S1215L +2 more)	Single nucleotide variant (missense variant)	L1CAM-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 435683	NM_001278116.2(L1CAM):c.3642C>T (p.Ser1214=)	L1CAM	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 256048	NM_001278116.2(L1CAM):c.3458-34C>T	L1CAM	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 3050301	NM_001278116.2(L1CAM):c.3456A>C (p.Ser1152=)	L1CAM	Single nucleotide variant (synonymous variant)	L1CAM-related disorder	GUncertain significance
Select item 700193	NM_001278116.2(L1CAM):c.3327C>T (p.Arg1109=)	L1CAM	Single nucleotide variant (synonymous variant)	L1CAM-related disorder +3 more	GBenign/Likely benign
Select item 445700	NM_001278116.2(L1CAM):c.3323-24dup	L1CAM	Duplication (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 256047	NM_001278116.2(L1CAM):c.3322+19G>A	L1CAM	Single nucleotide variant (intron variant)	Spastic paraplegia +1 more	GBenign/Likely benign
Select item 167237	NM_001278116.2(L1CAM):c.3192G>T (p.Ser1064=)	L1CAM	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2631410	NM_001278116.2(L1CAM):c.3118del (p.Glu1040fs)	L1CAM (E1035fs +1 more)	Deletion (frameshift variant)	L1CAM-related disorder	GLikely pathogenic
Select item 382519	NM_001278116.2(L1CAM):c.3099C>T (p.Val1033=)	L1CAM	Single nucleotide variant (synonymous variant)	L1CAM-related disorder +2 more	GBenign/Likely benign
Select item 668994	NM_001278116.2(L1CAM):c.3081G>T (p.Ala1027=)	L1CAM	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 3044558	NM_001278116.2(L1CAM):c.2872+2T>C	L1CAM	Single nucleotide variant (splice donor variant)	L1CAM-related disorder	GLikely pathogenic
Select item 2979652	NM_001278116.2(L1CAM):c.2622C>T (p.Pro874=)	L1CAM	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GBenign/Likely benign
Select item 92925	NM_001278116.2(L1CAM):c.2307C>T (p.Ser769=)	L1CAM	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +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 3033982	NM_001278116.2(L1CAM):c.2219G>A (p.Trp740Ter)	L1CAM (W735* +1 more)	Single nucleotide variant (nonsense)	L1CAM-related disorder	GPathogenic
Select item 92923	NM_001278116.2(L1CAM):c.2209-6C>T	L1CAM	Single nucleotide variant (intron variant)	Spastic paraplegia +3 more	GBenign
Select item 2916213	NM_001278116.2(L1CAM):c.2016G>A (p.Gln672=)	L1CAM	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GLikely benign
Select item 167233	NM_001278116.2(L1CAM):c.1977T>C (p.Pro659=)	L1CAM	Single nucleotide variant (synonymous variant)	L1CAM-related disorder +5 more	GBenign/Likely benign
Select item 2634536	NM_001278116.2(L1CAM):c.1806T>G (p.Ser602Arg)	L1CAM (S597R +1 more)	Single nucleotide variant (missense variant)	L1CAM-related disorder	GUncertain significance
Select item 2864212	NM_001278116.2(L1CAM):c.1721G>A (p.Gly574Glu)	L1CAM (G569E +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GBenign/Likely benign
Select item 503684	NM_001278116.2(L1CAM):c.1704-1G>A	L1CAM	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 1121628	NM_001278116.2(L1CAM):c.1704-5C>T	L1CAM	Single nucleotide variant (intron variant)	L1CAM-related disorder +1 more	GLikely benign
Select item 92919	NM_001278116.2(L1CAM):c.1704-14C>T	L1CAM	Single nucleotide variant (intron variant)	Spastic paraplegia +2 more	GBenign
Select item 256045	NM_001278116.2(L1CAM):c.1704-34G>C	L1CAM	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 697790	NM_001278116.2(L1CAM):c.1703+10G>C	L1CAM	Single nucleotide variant (intron variant)	Spastic paraplegia +1 more	GBenign/Likely benign
Select item 2074577	NM_001278116.2(L1CAM):c.1668C>T (p.Asp556=)	L1CAM	Single nucleotide variant (synonymous variant)	L1CAM-related disorder +1 more	GLikely benign
Select item 1554578	NM_001278116.2(L1CAM):c.1547-18C>T	L1CAM	Single nucleotide variant (intron variant)	L1CAM-related disorder +2 more	GBenign/Likely benign
Select item 2633713	NM_001278116.2(L1CAM):c.1528del (p.Ala510fs)	L1CAM (A505fs +1 more)	Deletion (frameshift variant)	L1CAM-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 2752152	NM_001278116.2(L1CAM):c.1297A>C (p.Asn433His)	L1CAM (N428H +1 more)	Single nucleotide variant (missense variant)	L1CAM-related disorder +1 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 1592012	NM_001278116.2(L1CAM):c.1261G>A (p.Val421Ile)	L1CAM (V416I +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GBenign/Likely benign
Select item 568459	NM_001278116.2(L1CAM):c.1219C>T (p.Arg407Cys)	L1CAM (R407C +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GLikely benign
Select item 2630671	NM_001278116.2(L1CAM):c.1187C>T (p.Pro396Leu)	L1CAM (P391L +1 more)	Single nucleotide variant (missense variant)	L1CAM-related disorder	GUncertain significance
Select item 199019	NM_001278116.2(L1CAM):c.1002C>T (p.Tyr334=)	L1CAM	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 256049	NM_001278116.2(L1CAM):c.992-32C>T	L1CAM	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2633025	NM_001278116.2(L1CAM):c.991+1G>A	L1CAM	Single nucleotide variant (splice donor variant)	L1CAM-related disorder	GPathogenic
Select item 287142	NM_001278116.2(L1CAM):c.963C>T (p.Ala321=)	L1CAM	Single nucleotide variant (synonymous variant)	L1CAM-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 198728	NM_001278116.2(L1CAM):c.924C>T (p.Gly308=)	L1CAM	Single nucleotide variant (synonymous variant)	L1CAM-related disorder +1 more	GLikely pathogenic
Select item 2634619	NM_001278116.2(L1CAM):c.892C>G (p.Gln298Glu)	L1CAM (Q293E +1 more)	Single nucleotide variant (missense variant)	L1CAM-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 92935	NM_001278116.2(L1CAM):c.860G>A (p.Arg287His)	L1CAM (R287H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 158796	NM_001278116.2(L1CAM):c.855C>T (p.Ala285=)	L1CAM	Single nucleotide variant (synonymous variant)	Spastic paraplegia +4 more	GBenign
Select item 2632923	NM_001278116.2(L1CAM):c.827G>T (p.Trp276Leu)	L1CAM (W271L +1 more)	Single nucleotide variant (missense variant)	L1CAM-related disorder	GUncertain significance
Select item 3050537	NM_001278116.2(L1CAM):c.754del (p.Leu252fs)	L1CAM (L247fs +1 more)	Deletion (frameshift variant)	L1CAM-related disorder	GLikely pathogenic
Select item 2721322	NM_001278116.2(L1CAM):c.735C>T (p.Pro245=)	L1CAM	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GLikely benign
Select item 92934	NM_001278116.2(L1CAM):c.720G>A (p.Pro240=)	L1CAM	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 1600037	NM_001278116.2(L1CAM):c.436G>A (p.Val146Met)	L1CAM (V141M +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 2721081	NM_001278116.2(L1CAM):c.351C>T (p.Ser117=)	L1CAM	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 458213	NM_001278116.2(L1CAM):c.338G>A (p.Arg113His)	L1CAM (R113H +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 256046	NM_001278116.2(L1CAM):c.294G>A (p.Thr98=)	L1CAM	Single nucleotide variant (synonymous variant)	Spastic paraplegia +3 more	GBenign/Likely benign
Select item 2632236	NM_001278116.2(L1CAM):c.247G>C (p.Gly83Arg)	L1CAM (G78R +1 more)	Single nucleotide variant (missense variant)	L1CAM-related disorder	GUncertain significance
Select item 996248	NM_001278116.2(L1CAM):c.198-9C>A	L1CAM	Single nucleotide variant (intron variant)	L1CAM-related disorder +1 more	GUncertain significance
Select item 92921	NM_001278116.2(L1CAM):c.197+17G>A	L1CAM	Single nucleotide variant (intron variant)	Spastic paraplegia +2 more	GBenign
Select item 2148562	NM_001278116.2(L1CAM):c.147C>T (p.Pro49=)	L1CAM	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GBenign/Likely benign
Select item 458210	NM_001278116.2(L1CAM):c.113C>T (p.Thr38Met)	L1CAM (T38M +1 more)	Single nucleotide variant (missense variant)	X-linked complicated corpus callosum dysgenesis +7 more	GBenign/Likely benign
Select item 2713416	NM_001278116.2(L1CAM):c.108C>T (p.Val36=)	L1CAM	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GBenign/Likely benign

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Items: 57