ClinVar for MedGen (Select 893410) - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 978935	NM_004519.4(KCNQ3):c.1657G>A (p.Gly553Arg)	KCNQ3 (G433R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 476244	NM_001127222.2(CACNA1A):c.2904_2929del (p.Pro969fs)	CACNA1A (P969fs +2 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 391229	NM_001127222.2(CACNA1A):c.546G>A (p.Leu182=)	CACNA1A	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 369312	NM_001040142.1(SCN2A):c.*2490G>A	SCN2A	Single nucleotide variant	Seizures, benign familial infantile, 3 +1 more	GLikely benign
Select item 365181	NM_001130438.3(SPTAN1):c.7160+10_7160+13del	SPTAN1	Microsatellite (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 365177	NM_001130438.3(SPTAN1):c.6654C>T (p.His2218=)	SPTAN1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 5 +4 more	GConflicting classifications of pathogenicity
Select item 365061	NM_001032221.6(STXBP1):c.812_815del	STXBP1	Deletion (3 prime UTR variant +1 more)	Early Infantile Epileptic Encephalopathy, Autosomal Dominant	GLikely benign
Select item 331760	NM_001040142.2(SCN2A):c.*1825A>G	SCN2A	Single nucleotide variant (3 prime UTR variant)	Early Infantile Epileptic Encephalopathy, Autosomal Dominant +1 more	GUncertain significance
Select item 331759	NM_001040142.2(SCN2A):c.*1778A>C	SCN2A	Single nucleotide variant (3 prime UTR variant)	Early Infantile Epileptic Encephalopathy, Autosomal Dominant +1 more	GUncertain significance
Select item 331733	NM_001040142.2(SCN2A):c.3735T>C (p.Ala1245=)	SCN2A	Single nucleotide variant (synonymous variant)	Seizures, benign familial infantile, 3 +3 more	GLikely benign
Select item 331724	NM_001040142.2(SCN2A):c.-51-1721_-51-1720dup	SCN2A	Duplication (intron variant)	not provided +2 more	GUncertain significance
Select item 331723	NM_001040142.2(SCN2A):c.-51-1720dup	SCN2A	Duplication (intron variant)	not provided +2 more	GUncertain significance
Select item 331722	NM_001040142.2(SCN2A):c.-51-1733_-51-1732insGATT	SCN2A	Insertion (intron variant)	Seizures, benign familial infantile, 3 +1 more	GUncertain significance
Select item 331721	NM_001040142.2(SCN2A):c.-51-1733_-51-1732insGAT	SCN2A	Insertion (intron variant)	Seizures, benign familial infantile, 3 +1 more	GUncertain significance
Select item 331720	NM_001040142.2(SCN2A):c.-51-1733_-51-1732insAGATT	SCN2A	Insertion (intron variant)	Early Infantile Epileptic Encephalopathy, Autosomal Dominant +1 more	GUncertain significance
Select item 331719	NM_001040142.2(SCN2A):c.-51-1733_-51-1732insAATTT	SCN2A	Insertion (intron variant)	Seizures, benign familial infantile, 3 +1 more	GUncertain significance
Select item 331718	NM_001040142.2(SCN2A):c.-51-1733_-51-1732insAATT	SCN2A	Insertion (intron variant)	Seizures, benign familial infantile, 3 +1 more	GUncertain significance
Select item 331717	NM_001040142.2(SCN2A):c.-51-1733_-51-1732insAAT	SCN2A	Insertion (intron variant)	Seizures, benign familial infantile, 3 +1 more	GUncertain significance
Select item 331716	NM_001040142.2(SCN2A):c.-51-1733_-51-1732insAAAT	SCN2A	Insertion (intron variant)	Seizures, benign familial infantile, 3 +1 more	GUncertain significance
Select item 331715	NM_001040142.2(SCN2A):c.-51-1733_-51-1732insAA	SCN2A	Insertion (intron variant)	Seizures, benign familial infantile, 3 +1 more	GUncertain significance
Select item 331714	NM_001040142.2(SCN2A):c.-51-1733_-51-1732dup	SCN2A	Duplication (intron variant)	Seizures, benign familial infantile, 3 +1 more	GUncertain significance
Select item 331712	NM_001040142.2(SCN2A):c.-51-1734del	SCN2A	Deletion (intron variant)	Seizures, benign familial infantile, 3 +1 more	GUncertain significance
Select item 331711	NM_001040142.2(SCN2A):c.-51-1734_-51-1733del	SCN2A	Deletion (intron variant)	Seizures, benign familial infantile, 3 +1 more	GUncertain significance
Select item 331710	NM_001040142.2(SCN2A):c.-51-1735_-51-1733del	SCN2A	Deletion (intron variant)	Seizures, benign familial infantile, 3 +1 more	GUncertain significance
Select item 331709	NM_001040142.2(SCN2A):c.-51-1736_-51-1735del	LOC120977013, SCN2A	Deletion (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 331708	NM_001040142.2(SCN2A):c.-51-1735del	LOC120977013, SCN2A	Deletion (intron variant)	Seizures, benign familial infantile, 3 +2 more	GConflicting classifications of pathogenicity
Select item 331707	NM_001040142.2(SCN2A):c.-51-1737_-51-1735dup	LOC120977013, SCN2A	Duplication (intron variant)	not provided +2 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 309431	NM_001330260.2(SCN8A):c.*4785TG[7]	SCN8A	Microsatellite (3 prime UTR variant)	Early Infantile Epileptic Encephalopathy, Autosomal Dominant	GUncertain significance
Select item 309430	NM_001330260.2(SCN8A):c.*4785TG[8]	SCN8A	Microsatellite (3 prime UTR variant)	Early Infantile Epileptic Encephalopathy, Autosomal Dominant	GUncertain significance
Select item 309429	NM_001330260.2(SCN8A):c.*4785TG[11]	SCN8A	Microsatellite (3 prime UTR variant)	Early Infantile Epileptic Encephalopathy, Autosomal Dominant	GUncertain significance
Select item 309428	NM_001330260.2(SCN8A):c.*4785TG[10]	SCN8A	Microsatellite (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 309416	NM_001330260.2(SCN8A):c.3914_3917dup	SCN8A	Duplication (3 prime UTR variant)	Early Infantile Epileptic Encephalopathy, Autosomal Dominant	GLikely benign
Select item 309411	NM_001330260.2(SCN8A):c.*3706del	SCN8A	Deletion (3 prime UTR variant)	Early Infantile Epileptic Encephalopathy, Autosomal Dominant	GLikely benign
Select item 309395	NM_001330260.2(SCN8A):c.2235_2236del	SCN8A	Deletion (3 prime UTR variant)	Early Infantile Epileptic Encephalopathy, Autosomal Dominant	GLikely benign
Select item 309354	NM_001330260.2(SCN8A):c.2432A>G (p.Tyr811Cys)	SCN8A (Y811C)	Single nucleotide variant (missense variant)	Early Infantile Epileptic Encephalopathy, Autosomal Dominant	GUncertain significance
Select item 207309	NM_001130438.3(SPTAN1):c.7309-12_7309-11del	SPTAN1	Microsatellite (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 196030	NM_001330260.2(SCN8A):c.5943GAG[1] (p.Ter1981=)	SCN8A	Microsatellite (no sequence alteration)	Inborn genetic diseases +4 more	GBenign/Likely benign

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Items: 38