C4310728[trait identifier] AND "New York Genome Center"[submitter] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 205963	NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys)	KCNQ3 (R230C +1 more)	Single nucleotide variant (missense variant)	KCNQ3-related developmental disability +8 more	GPathogenic/Likely pathogenic
Select item 1679749	NM_001330260.2(SCN8A):c.1264C>A (p.Leu422Met)	SCN8A (L422M)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 5 +3 more	GUncertain significance
Select item 1342316	NM_001330260.2(SCN8A):c.2901+2T>C	SCN8A	Single nucleotide variant (splice donor variant)	Seizures, benign familial infantile, 5 +1 more	GPathogenic
Select item 207142	NM_001330260.2(SCN8A):c.3148G>A (p.Gly1050Ser)	SCN8A (G1050S)	Single nucleotide variant (missense variant)	SCN8A-related condition +4 more	GConflicting classifications of pathogenicity
Select item 1696571	NM_001330260.2(SCN8A):c.3245A>T (p.Asp1082Val)	SCN8A (D1082V)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 5 +2 more	GUncertain significance
Select item 530412	NM_001330260.2(SCN8A):c.3367A>C (p.Lys1123Gln)	SCN8A (K1123Q)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 5 +3 more	GUncertain significance
Select item 1213776	NM_001330260.2(SCN8A):c.5613G>C (p.Glu1871Asp)	SCN8A (E1830D +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 578492	NM_001330260.2(SCN8A):c.5924T>C (p.Val1975Ala)	SCN8A (V1975A +1 more)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 5 +1 more	GUncertain significance