ClinVar (all) for Orgtrack (Select 507052) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1690314	NM_001165963.4(SCN1A):c.352A>G (p.Arg118Gly)	SCN1A (R118G)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 1184443	NM_003042.4(SLC6A1):c.179A>C (p.Tyr60Ser)	SLC6A1, SLC6A1-AS1 (Y60S)	Single nucleotide variant (missense variant +1 more)	Myoclonic-astatic epilepsy	GLikely pathogenic
Select item 1184258	NM_001029896.2(WDR45):c.755T>C (p.Leu252Pro)	WDR45 (L252P +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 5	GLikely pathogenic
Select item 997693	NM_001127644.2(GABRA1):c.1015A>G (p.Lys339Glu)	GABRA1 (K339E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 19	GPathogenic
Select item 997678	NM_001032221.6(STXBP1):c.1570A>T (p.Lys524Ter)	STXBP1 (K488* +3 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 997449	NM_001127222.2(CACNA1A):c.2134G>T (p.Ala712Ser)	CACNA1A (A712S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42	GPathogenic
Select item 997445	NM_001110792.2(MECP2):c.1153_1235del (p.Ser385fs)	MECP2 (S150fs +3 more)	Deletion (frameshift variant)	Rett syndrome	GPathogenic
Select item 635277	NM_002294.3(LAMP2):c.190_191del (p.Val64fs)	LAMP2 (V64fs)	Deletion (frameshift variant)	Danon disease	GPathogenic
Select item 254268	NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)	CACNA1A (A713T +1 more)	Single nucleotide variant (missense variant)	Abnormality of the nervous system +7 more	GPathogenic/Likely pathogenic