Related gene-specific medical variations for Gene (Select 120977013) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1703351	NM_001040142.2(SCN2A):c.-51-1737_-51-1735del	SCN2A, LOC120977013	Deletion (intron variant)	not provided	GLikely benign
Select item 1245138	NM_001040142.2(SCN2A):c.-51-1983G>C	LOC120977013, SCN2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 894300	NM_001040142.2(SCN2A):c.-51-1758A>C	LOC120977013, SCN2A	Single nucleotide variant (intron variant)	Seizures, benign familial infantile, 3	GUncertain significance
Select item 894299	NM_001040142.2(SCN2A):c.-51-1762A>T	LOC120977013, SCN2A	Single nucleotide variant (intron variant)	Seizures, benign familial infantile, 3	GUncertain significance
Select item 331709	NM_001040142.2(SCN2A):c.-51-1736_-51-1735del	LOC120977013, SCN2A	Deletion (intron variant)	Seizures, benign familial infantile, 3 +2 more	GConflicting classifications of pathogenicity
Select item 331708	NM_001040142.2(SCN2A):c.-51-1735del	LOC120977013, SCN2A	Deletion (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 331707	NM_001040142.2(SCN2A):c.-51-1737_-51-1735dup	LOC120977013, SCN2A	Duplication (intron variant)	Seizures, benign familial infantile, 3 +1 more	GUncertain significance
Select item 331706	NM_001040142.2(SCN2A):c.-51-1736_-51-1735dup	LOC120977013, SCN2A	Duplication (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 331705	NM_001040142.2(SCN2A):c.-51-1914C>T	LOC120977013, SCN2A	Single nucleotide variant (intron variant)	Seizures, benign familial infantile, 3	GUncertain significance
Select item 331704	NM_001040142.2(SCN2A):c.-51-1925G>A	LOC120977013, SCN2A	Single nucleotide variant (intron variant)	Seizures, benign familial infantile, 3	GUncertain significance