C0007758[trait identifier] AND "NIHR Bioresource Rare Diseases, Univer - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812756	NM_014704.4(CEP104):c.89del (p.Thr30fs)	CEP104 (T30fs)	Deletion (frameshift variant)	Cerebellar ataxia +2 more	GPathogenic
Select item 7462	NM_002241.5(KCNJ10):c.194G>C (p.Arg65Pro)	KCNJ10 (R65P)	Single nucleotide variant (missense variant)	Microcephaly +5 more	GPathogenic
Select item 7723	NM_000303.3(PMM2):c.338C>T (p.Pro113Leu)	PMM2 (P113L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 7706	NM_000303.3(PMM2):c.422G>A (p.Arg141His)	PMM2 (R141H)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation type I +4 more	GPathogenic/Likely pathogenic
Select item 812999	NM_000303.3(PMM2):c.584A>G (p.His195Arg)	PMM2 (H195R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 625205	NM_006612.6(KIF1C):c.1051_1055del (p.Asn351fs)	KIF1C (N351fs)	Deletion (frameshift variant)	Intellectual disability	GPathogenic
Select item 6196	NM_003560.4(PLA2G6):c.1634A>C (p.Lys545Thr)	PLA2G6 (K545T +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive Parkinson disease 14 +1 more	GPathogenic/Likely pathogenic
Select item 693061	NC_012920.1(MT-ATP6):m.9032T>C	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database

ClinVar