"Athena Diagnostics"[submitter] AND "L1CAM"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 548001	NM_001278116.2(L1CAM):c.3654G>C (p.Gln1218His)	L1CAM (Q1218H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 586124	NM_001278116.2(L1CAM):c.3326G>A (p.Arg1109His)	L1CAM (R1109H +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 92932	NM_001278116.2(L1CAM):c.3081G>A (p.Ala1027=)	L1CAM	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 695506	NM_001278116.2(L1CAM):c.3057T>G (p.Asp1019Glu)	L1CAM (D1014E +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 2684259	NM_001278116.2(L1CAM):c.2739C>T (p.Thr913=)	L1CAM	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 447678	NM_001278116.2(L1CAM):c.2698G>A (p.Gly900Arg)	L1CAM (G900R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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)	Hereditary spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 167233	NM_001278116.2(L1CAM):c.1977T>C (p.Pro659=)	L1CAM	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 447677	NM_001278116.2(L1CAM):c.1304C>T (p.Thr435Met)	L1CAM (T435M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 92918	NM_001278116.2(L1CAM):c.1268-10C>T	L1CAM	Single nucleotide variant (intron variant)	Spastic paraplegia +4 more	GBenign
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 158796	NM_001278116.2(L1CAM):c.855C>T (p.Ala285=)	L1CAM	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 1807347	NM_001278116.2(L1CAM):c.707T>C (p.Ile236Thr)	L1CAM (I231T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 197139	NM_001278116.2(L1CAM):c.396C>T (p.Ala132=)	L1CAM	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 699379	NM_001278116.2(L1CAM):c.367G>A (p.Ala123Thr)	L1CAM (A123T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2684258	NM_001278116.2(L1CAM):c.124C>T (p.Pro42Ser)	L1CAM (P37S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 92930	NM_001278116.2(L1CAM):c.28C>T (p.Pro10Ser)	L1CAM (P10S)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign