C0751122[trait identifier] AND "MGZ Medical Genetics Center"[submitter - ClinVar - NCBI

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

Search results

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1709397	NM_001165963.4(SCN1A):c.5177G>A (p.Trp1726Ter)	LOC102724058, SCN1A (W1697* +5 more)	Single nucleotide variant (nonsense +1 more)	Severe myoclonic epilepsy in infancy +1 more	GPathogenic/Likely pathogenic
Select item 1710072	NM_001165963.4(SCN1A):c.4972_4973delinsTA (p.Thr1658Ter)	LOC102724058, SCN1A (T1629* +5 more)	Indel (nonsense +1 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 1709473	NM_001165963.4(SCN1A):c.4876G>C (p.Glu1626Gln)	LOC102724058, SCN1A (E1597Q +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 488727	NM_001165963.4(SCN1A):c.4853-1G>C	LOC102724058, SCN1A	Single nucleotide variant (splice acceptor variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic
Select item 448255	NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His)	LOC102724058, SCN1A (R1585H +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GConflicting classifications of pathogenicity
Select item 571229	NM_001165963.4(SCN1A):c.4581+5G>C	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy +1 more	GPathogenic/Likely pathogenic
Select item 961360	NM_001165963.4(SCN1A):c.4581+1G>A	LOC102724058, SCN1A	Single nucleotide variant (splice donor variant)	Severe myoclonic epilepsy in infancy +2 more	GPathogenic
Select item 1709925	NM_001165963.4(SCN1A):c.4493T>C (p.Ile1498Thr)	LOC102724058, SCN1A (I1469T +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GLikely pathogenic
Select item 1709119	NM_001165963.4(SCN1A):c.4460A>G (p.Asn1487Ser)	LOC102724058, SCN1A (N1458S +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GUncertain significance
Select item 68533	NM_001165963.4(SCN1A):c.3734G>A (p.Arg1245Gln)	LOC102724058, SCN1A (R1234Q +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +5 more	GPathogenic/Likely pathogenic
Select item 1709253	NM_001165963.4(SCN1A):c.2815del (p.His939fs)	SCN1A (H125fs +5 more)	Deletion (frameshift variant +1 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 189938	NM_001165963.4(SCN1A):c.2589+3A>T	SCN1A	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy +5 more	GPathogenic
Select item 190225	NM_001165963.4(SCN1A):c.2214G>A (p.Trp738Ter)	SCN1A (W727* +4 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic
Select item 189848	NM_001165963.4(SCN1A):c.1624C>T (p.Arg542Ter)	SCN1A (R542* +1 more)	Single nucleotide variant (nonsense +2 more)	Severe myoclonic epilepsy in infancy +4 more	GPathogenic
Select item 217242	NM_001165963.4(SCN1A):c.264+5G>A	SCN1A	Single nucleotide variant (intron variant)	Autosomal dominant epilepsy +3 more	GPathogenic/Likely pathogenic