ClinVar for MedGen (Select 315948) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1297468	NM_001145250.2(SP9):c.1216del (p.His406fs)	SP9 (H406fs)	Deletion (frameshift variant)	Convulsive status epilepticus +5 more	GPathogenic
Select item 1047899	GRCh37/hg19 20q13.33(chr20:61510452-62315381)	ARFGAP1, BHLHE23 +20 more	Copy number loss	Epileptic spasm	GPathogenic
Select item 523260	GRCh37/hg19 17p13.3(chr17:1361431-2573023)	MIR212, MIR22 +25 more	Copy number loss	Abnormal facial shape +2 more	GPathogenic
Select item 268040	46;XY;t(1;3)(p32.1;p25)		Translocation	Absent speech +6 more	GUncertain significance
Select item 203540	NM_000016.6(ACADM):c.797A>G (p.Asp266Gly)	ACADM (D266G +4 more)	Single nucleotide variant (missense variant)	Epileptic spasm +3 more	GPathogenic/Likely pathogenic
Select item 3586	NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)	ACADM (K329E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GPathogenic/Likely pathogenic

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