ClinVar for PubMed (Select 25262651) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2825827	NM_020988.3(GNAO1):c.807_808delinsAC (p.Asn270His)	GNAO1 (N270H)	Indel (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 2772188	NM_005660.3(SLC35A2):c.68dup (p.Leu23fs)	SLC35A2 (L23fs)	Duplication (frameshift variant +1 more)	SLC35A2-congenital disorder of glycosylation	GPathogenic
Select item 2138573	NM_001029896.2(WDR45):c.879_880del (p.Gln294fs)	WDR45 (Q294fs +1 more)	Microsatellite (frameshift variant)	Neurodegeneration with brain iron accumulation 5 +1 more	GPathogenic
Select item 1691275	NM_005458.8(GABBR2):c.2084G>A (p.Ser695Asn)	GABBR2 (S695N)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with poor language and loss of hand skills +1 more	GLikely pathogenic
Select item 1457955	NM_005660.3(SLC35A2):c.136C>T (p.Gln46Ter)	SLC35A2 (Q74* +3 more)	Single nucleotide variant (nonsense +1 more)	SLC35A2-congenital disorder of glycosylation	GPathogenic
Select item 1072618	NM_005660.3(SLC35A2):c.327T>G (p.Tyr109Ter)	SLC35A2 (Y109* +4 more)	Single nucleotide variant (nonsense)	SLC35A2-congenital disorder of glycosylation	GPathogenic
Select item 965819	NM_152309.3(PIK3AP1):c.1258G>A (p.Glu420Lys)	PIK3AP1 (E420K)	Single nucleotide variant (missense variant)	Infantile spasms	GUncertain significance
Select item 804957	NM_172107.4(KCNQ2):c.1742G>C (p.Arg581Pro)	KCNQ2 (R563P +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 531051	NM_001036.6(RYR3):c.14104G>A (p.Asp4702Asn)	AVEN, RYR3 (D4702N +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 520737	NM_004408.4(DNM1):c.1075G>A (p.Gly359Arg)	DNM1 (G359R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 496590	NM_005458.8(GABBR2):c.2114T>A (p.Ile705Asn)	GABBR2 (I705N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 59	GPathogenic
Select item 496589	NM_005458.8(GABBR2):c.2084G>T (p.Ser695Ile)	GABBR2 (S695I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 59	GPathogenic
Select item 474387	NM_001271.4(CHD2):c.390C>T (p.Ser130=)	CHD2	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy 94	GLikely pathogenic
Select item 441272	NM_000944.5(PPP3CA):c.275A>G (p.His92Arg)	PPP3CA (H92R)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GPathogenic
Select item 280148	NM_004408.4(DNM1):c.709C>T (p.Arg237Trp)	DNM1 (R237W)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31A +2 more	GPathogenic
Select item 265380	NM_172107.4(KCNQ2):c.1741C>G (p.Arg581Gly)	KCNQ2 (R581G +3 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 156559	NM_004408.4(DNM1):c.1076G>C (p.Gly359Ala)	DNM1 (G359A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31A	GLikely pathogenic
Select item 156558	NM_004408.4(DNM1):c.618G>C (p.Lys206Asn)	DNM1 (K206N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31A	GPathogenic
Select item 156557	NM_004408.4(DNM1):c.529G>C (p.Ala177Pro)	LOC113839516, DNM1 (A177P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31A	GPathogenic
Select item 21769	NM_172107.4(KCNQ2):c.1742G>A (p.Arg581Gln)	KCNQ2 (R581Q +3 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +4 more	GPathogenic/Likely pathogenic

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Items: 20