C1843140[trait identifier] AND "Mendelics"[submitter] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1685435	NM_001040142.2(SCN2A):c.121C>T (p.Arg41Cys)	SCN2A (R41C)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +1 more	GConflicting classifications of pathogenicity
Select item 801775	NM_001040142.2(SCN2A):c.507del (p.Glu169fs)	SCN2A (E169fs)	Deletion (frameshift variant)	Seizures, benign familial infantile, 3	GPathogenic
Select item 1686160	NM_001040142.2(SCN2A):c.634A>G (p.Asn212Asp)	SCN2A (N212D)	Single nucleotide variant (missense variant +1 more)	Seizures, benign familial infantile, 3	GPathogenic
Select item 801776	NM_001040142.2(SCN2A):c.638T>C (p.Val213Ala)	SCN2A (V213A)	Single nucleotide variant (missense variant +1 more)	Seizures, benign familial infantile, 3 +1 more	GPathogenic/Likely pathogenic
Select item 29888	NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val)	SCN2A (A263V)	Single nucleotide variant (missense variant)	SCN2A-related disorder +5 more	GPathogenic
Select item 206961	NM_001040142.2(SCN2A):c.982T>G (p.Phe328Val)	SCN2A (F328V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 207052	NM_001040142.2(SCN2A):c.1267G>C (p.Val423Leu)	SCN2A (V423L)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +2 more	GPathogenic/Likely pathogenic
Select item 1686161	NM_001040142.2(SCN2A):c.1271T>G (p.Val424Gly)	SCN2A (V424G)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3	GPathogenic
Select item 801777	NM_001040142.2(SCN2A):c.1384-2A>G	SCN2A	Single nucleotide variant (splice acceptor variant)	Episodic ataxia, type 9 +1 more	GLikely pathogenic
Select item 436662	NM_001040142.2(SCN2A):c.2566C>T (p.Arg856Ter)	SCN2A (R856*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 11 +2 more	GPathogenic/Likely pathogenic
Select item 689785	NM_001040142.2(SCN2A):c.2638G>A (p.Ala880Thr)	SCN2A (A880T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GPathogenic/Likely pathogenic
Select item 801778	NM_001040142.2(SCN2A):c.2659G>C (p.Val887Leu)	SCN2A (V887L)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +1 more	GPathogenic/Likely pathogenic
Select item 130219	NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg)	SCN2A (K908R)	Single nucleotide variant (missense variant)	Episodic ataxia, type 9 +5 more	GBenign/Likely benign
Select item 801779	NM_001040142.2(SCN2A):c.2725G>A (p.Glu909Lys)	SCN2A (E909K)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3	GUncertain significance
Select item 1686162	NM_001040142.2(SCN2A):c.2854G>T (p.Glu952Ter)	SCN2A (E952*)	Single nucleotide variant (nonsense)	Seizures, benign familial infantile, 3	GPathogenic
Select item 1686163	NM_001040142.2(SCN2A):c.3209dup (p.Asp1070fs)	SCN2A (D1070fs)	Duplication (frameshift variant)	Seizures, benign familial infantile, 3	GPathogenic
Select item 1686164	NM_001040142.2(SCN2A):c.3399+1del	SCN2A	Deletion (splice donor variant)	Seizures, benign familial infantile, 3	GPathogenic
Select item 801780	NM_001040142.2(SCN2A):c.3461G>A (p.Gly1154Glu)	SCN2A (G1154E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 801781	NM_001040142.2(SCN2A):c.3664A>C (p.Ser1222Arg)	SCN2A (S1222R)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3	GLikely pathogenic
Select item 1686165	NM_001040142.2(SCN2A):c.3997G>T (p.Ala1333Ser)	SCN2A (A1333S)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3	GPathogenic
Select item 801782	NM_001040142.2(SCN2A):c.4243C>A (p.Leu1415Ile)	SCN2A (L1415I)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3	GLikely pathogenic
Select item 1686166	NM_001040142.2(SCN2A):c.4316T>G (p.Leu1439Ter)	SCN2A (L1439*)	Single nucleotide variant (nonsense)	Seizures, benign familial infantile, 3	GPathogenic
Select item 1686169	NM_001040142.2(SCN2A):c.4517C>G (p.Ser1506Ter)	SCN2A (S1506*)	Single nucleotide variant (nonsense)	Seizures, benign familial infantile, 3	GPathogenic
Select item 130214	NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala)	SCN2A (G1522A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 801784	NM_001040142.2(SCN2A):c.4635G>T (p.Met1545Ile)	SCN2A (M1545I)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3	GLikely pathogenic
Select item 801783	NM_001040142.2(SCN2A):c.4635G>C (p.Met1545Ile)	SCN2A (M1545I)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3	GLikely pathogenic
Select item 801785	NM_001040142.2(SCN2A):c.4688T>G (p.Leu1563Arg)	SCN2A (L1563R)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3	GLikely pathogenic
Select item 207019	NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)	SCN2A (R1629H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 1344839	NM_001040142.2(SCN2A):c.4913G>C (p.Arg1638Pro)	SCN2A (R1638P)	Single nucleotide variant (missense variant)	SCN2A-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 801786	NM_001040142.2(SCN2A):c.5113A>C (p.Ile1705Leu)	SCN2A (I1705L)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3	GUncertain significance
Select item 801787	NM_001040142.2(SCN2A):c.5333A>T (p.Asn1778Ile)	SCN2A (N1778I)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3	GLikely pathogenic
Select item 801788	NM_001040142.2(SCN2A):c.5918C>G (p.Pro1973Arg)	SCN2A (P1973R)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 32