ClinVar for MedGen (Select 1385688) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1691872	NM_173602.3(DIP2B):c.3346C>T (p.Arg1116Ter)	DIP2B (R1116*)	Single nucleotide variant (nonsense)	Generalized non-motor (absence) seizure	GUncertain significance
Select item 523455	NM_001365536.1(SCN9A):c.3328T>C (p.Ser1110Pro)	SCN1A-AS1, SCN9A (S1099P +1 more)	Single nucleotide variant (missense variant)	Generalized non-motor (absence) seizure +1 more	GUncertain significance
Select item 267927	46;XY;t(4;14)(p14;q11.2)dn		Translocation	Short philtrum +28 more	GUncertain significance
Select item 206353	NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs)	PCDH19 (Y366fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 9 +12 more	GPathogenic
Select item 180223	NC_000006.11:g.(117810940_117810996)_(119417693_119417749)del	ASF1A, CEP85L +7 more	Deletion	Generalized non-motor (absence) seizure +2 more	GPathogenic
Select item 68616	NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser)	LOC102724058, SCN1A (T1163S +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +11 more	GConflicting classifications of pathogenicity
Select item 16340	NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)	FGFR3 (P250R)	Single nucleotide variant (missense variant +1 more)	Coronal craniosynostosis +26 more	GPathogenic/Likely pathogenic

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