C0948163[trait identifier] AND "NIHR Bioresource Rare Diseases, Univer - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812988	NC_000002.12:g.201705201del	ALS2	Deletion (genic downstream transcript variant)	Limb dystonia +5 more	GLikely pathogenic
Select item 402130	NM_138615.3(DHX30):c.1685A>G (p.His562Arg)	DHX30 (H562R +2 more)	Single nucleotide variant (missense variant)	Sleep abnormality +6 more	GPathogenic
Select item 812775	NM_002150.3(HPD):c.1049T>C (p.Val350Ala)	HPD (V350A +1 more)	Single nucleotide variant (missense variant)	Limb dystonia +5 more	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 812745	NM_000435.3(NOTCH3):c.634T>C (p.Cys212Arg)	NOTCH3 (C212R)	Single nucleotide variant (missense variant)	Ischemic stroke +6 more	GPathogenic
Select item 812791	NM_001372044.2(SHANK3):c.1797C>A (p.Cys599Ter)	SHANK3 (C599*)	Single nucleotide variant (nonsense)	Abnormal cerebral white matter morphology +3 more	GLikely pathogenic

ClinVar