C5231391[trait identifier] AND "NIHR Bioresource Rare Diseases, Univer - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 48481	NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn)	USH2A (D656N)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely benign FDA Recognized database
Select item 204593	NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)	KIAA0586 (R131fs +3 more)	Deletion (frameshift variant)	Retinal dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 204596	NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs)	KIAA0586 (Q150fs +5 more)	Deletion (frameshift variant)	Joubert syndrome 23 +3 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 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 812931	NC_000023.11:g.41506506_41542250del	CASK	Deletion	Congenital cerebellar hypoplasia +4 more	GLikely pathogenic

ClinVar