ClinVar for MedGen (Select 57822) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812745	NM_000435.3(NOTCH3):c.634T>C (p.Cys212Arg)	NOTCH3 (C212R)	Single nucleotide variant (missense variant)	Ischemic stroke +6 more	GPathogenic
Select item 812744	NM_000435.3(NOTCH3):c.1136G>C (p.Cys379Ser)	NOTCH3 (C379S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 812743	NM_000435.3(NOTCH3):c.1162T>C (p.Cys388Arg)	NOTCH3 (C388R)	Single nucleotide variant (missense variant)	Abnormal cerebral white matter morphology +1 more	GLikely pathogenic
Select item 523554	NM_080916.3(DGUOK):c.65C>T (p.Pro22Leu)	DGUOK, LOC129934096 (P22L)	Single nucleotide variant (missense variant +2 more)	Migraine with aura +8 more	GUncertain significance
Select item 523553	NM_080916.3(DGUOK):c.278G>A (p.Gly93Glu)	DGUOK (G93E)	Single nucleotide variant (missense variant +2 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +7 more	GUncertain significance
Select item 523301	GRCh37/hg19 Xq28(chrX:153588672-153609996)	FLNA, EMD	Copy number gain	Migraine with aura	GPathogenic
Select item 523300	GRCh37/hg19 Xq28(chrX:153575976-153586768)	FLNA	Copy number loss	Migraine with aura	GPathogenic

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