C1843140[trait identifier] AND "Mayo Clinic Laboratories, Mayo Clinic" - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 985353	NM_001040142.2(SCN2A):c.408G>A (p.Met136Ile)	SCN2A (M136I)	Single nucleotide variant (missense variant)	SCN2A-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 933619	NM_001040142.2(SCN2A):c.466A>C (p.Lys156Gln)	SCN2A (K156Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 562197	NM_001040142.2(SCN2A):c.709_711delinsTTG (p.Ile237Leu)	SCN2A (I237L)	Indel (missense variant)	Seizures, benign familial infantile, 3 +1 more	GUncertain significance
Select item 562198	NM_001040142.2(SCN2A):c.746C>T (p.Ser249Phe)	SCN2A (S249F)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +1 more	GUncertain significance
Select item 432605	NM_001040142.2(SCN2A):c.811A>G (p.Met271Val)	SCN2A (M271V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 978936	NM_001040142.2(SCN2A):c.1831_1832del (p.Leu611fs)	SCN2A (L611fs)	Microsatellite (frameshift variant)	Inborn genetic diseases +4 more	GPathogenic
Select item 533487	NM_001040142.2(SCN2A):c.2177C>T (p.Pro726Leu)	SCN2A (P726L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1162930	NM_001040142.2(SCN2A):c.2620A>G (p.Ile874Val)	SCN2A (I874V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +2 more	GConflicting classifications of pathogenicity
Select item 206984	NM_001040142.2(SCN2A):c.3259G>A (p.Val1087Met)	SCN2A (V1087M)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +2 more	GUncertain significance
Select item 206992	NM_001040142.2(SCN2A):c.3971G>A (p.Arg1324Lys)	SCN2A (R1324K)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +2 more	GUncertain significance
Select item 860579	NM_001040142.2(SCN2A):c.5668A>G (p.Lys1890Glu)	SCN2A (K1890E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 944261	NM_001040142.2(SCN2A):c.5704C>T (p.Arg1902Cys)	SCN2A (R1902C)	Single nucleotide variant (missense variant)	Autism +5 more	GUncertain significance