"L1CAM-related disorders"[Disease/phenotype] AND "Baylor Genetics"[sub - ClinVar

Format

Sort by

Choose Destination

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3238809	NM_001278116.2(L1CAM):c.3366G>T (p.Trp1122Cys)	L1CAM (W1117C +1 more)	Single nucleotide variant (missense variant)	L1CAM-related disorders	GUncertain significance
Select item 503684	NM_001278116.2(L1CAM):c.1704-1G>A	L1CAM	Single nucleotide variant (splice acceptor variant)	L1CAM-related disorders +2 more	GPathogenic
Select item 9995	NM_001278116.2(L1CAM):c.1108G>A (p.Gly370Arg)	L1CAM (G370R +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +3 more	GPathogenic

Format

Sort by

Choose Destination

ClinVar