C0004352[trait identifier] AND "NIHR Bioresource Rare Diseases, Univer - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812758	NM_000329.3(RPE65):c.1084C>T (p.Gln362Ter)	RPE65 (Q362*)	Single nucleotide variant (nonsense)	RPE65-related recessive retinopathy	GPathogenic FDA Recognized database
Select item 68559	NM_001165963.4(SCN1A):c.4970G>A (p.Arg1657His)	LOC102724058, SCN1A (R1646H +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 197187	NM_001165963.4(SCN1A):c.602+1G>A	SCN1A	Single nucleotide variant (splice donor variant)	Early infantile epileptic encephalopathy with suppression bursts +7 more	GPathogenic
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 96125	NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter)	SRD5A3 (W19*)	Single nucleotide variant (nonsense)	SRD5A3-congenital disorder of glycosylation +3 more	GPathogenic
Select item 207418	NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln)	STXBP1 (R190Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 812770	NM_001032221.6(STXBP1):c.1359+1G>T	STXBP1	Single nucleotide variant (splice donor variant)	Autism +1 more	GPathogenic
Select item 813006	NM_001029896.2(WDR45):c.225dup (p.Glu76fs)	LOC126863256, WDR45 (E76fs)	Duplication (frameshift variant)	Autism +2 more	GLikely pathogenic

ClinVar