ClinVar for MedGen (Select 374339) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024289	NM_001278116.2(L1CAM):c.2434C>G (p.Pro812Ala)	L1CAM (P807A +1 more)	Single nucleotide variant (missense variant)	X-linked hydrocephalus syndrome +2 more	GUncertain significance
Select item 2585012	NM_001278116.2(L1CAM):c.1430A>C (p.Tyr477Ser)	L1CAM (Y477S +1 more)	Single nucleotide variant (missense variant)	X-linked complicated corpus callosum dysgenesis	GUncertain significance
Select item 1709854	NM_001278116.2(L1CAM):c.3530+2T>C	L1CAM	Single nucleotide variant (splice donor variant)	X-linked complicated corpus callosum dysgenesis	GLikely pathogenic
Select item 1339568	NM_001278116.2(L1CAM):c.2920G>T (p.Glu974Ter)	L1CAM (E969* +1 more)	Single nucleotide variant (nonsense)	X-linked complicated corpus callosum dysgenesis	GPathogenic
Select item 1310665	NM_001278116.2(L1CAM):c.2516_2517delinsAT (p.Ala839Asp)	L1CAM (A834D +1 more)	Indel (missense variant)	not provided +3 more	GUncertain significance
Select item 1303645	NM_001278116.2(L1CAM):c.3118G>A (p.Glu1040Lys)	L1CAM (E1035K +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 1176609	NM_001278116.2(L1CAM):c.385C>T (p.Arg129Trp)	L1CAM (R124W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 1030783	NM_001278116.2(L1CAM):c.3754C>T (p.Pro1252Ser)	L1CAM (P1243S +2 more)	Single nucleotide variant (missense variant)	X-linked complicated corpus callosum dysgenesis	GUncertain significance
Select item 988729	NM_001278116.2(L1CAM):c.3589G>A (p.Gly1197Arg)	L1CAM (G1188R +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 838485	NM_001278116.2(L1CAM):c.925G>A (p.Glu309Lys)	L1CAM (E304K +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +4 more	GPathogenic/Likely pathogenic
Select item 689728	NM_001278116.2(L1CAM):c.604G>A (p.Asp202Asn)	L1CAM (D202N +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 589419	NM_001278116.2(L1CAM):c.649A>C (p.Arg217=)	L1CAM	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 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)	not provided +7 more	GBenign/Likely benign
Select item 438595	NM_001278116.2(L1CAM):c.3163G>A (p.Gly1055Arg)	L1CAM (G1055R +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 211339	NM_001278116.2(L1CAM):c.2278C>T (p.Arg760Ter)	L1CAM (R760* +1 more)	Single nucleotide variant (nonsense)	Hydrocephalus due to aqueductal stenosis +4 more	GPathogenic
Select item 195460	NM_001278116.2(L1CAM):c.2657G>A (p.Arg886Gln)	L1CAM (R886Q +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +4 more	GBenign/Likely benign
Select item 10001	NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu)	L1CAM (P240L +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +3 more	GPathogenic/Likely pathogenic