C5393299[trait identifier] AND "Broad Center for Mendelian Genomics, B - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 129814	NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu)	NPHP1 (R5L)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign/Likely benign
Select item 2579274	GRCh38/hg38 Xp11.4(chrX:41333187-42099271)x1	CASK, DDX3X +19 more	Copy number loss	Intellectual disability, X-linked 102 +1 more	GPathogenic
Select item 803981	NM_001356.5(DDX3X):c.173C>G (p.Ser58Ter)	DDX3X (S58* +1 more)	Single nucleotide variant (nonsense +2 more)	Intellectual disability, X-linked 102	GPathogenic/Likely pathogenic
Select item 1703239	NM_001356.5(DDX3X):c.599A>G (p.Tyr200Cys)	DDX3X (Y14C +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 1703241	NM_001356.5(DDX3X):c.894C>A (p.Cys298Ter)	DDX3X (C112* +2 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, X-linked 102	GPathogenic
Select item 421724	NM_001356.5(DDX3X):c.1582C>T (p.Arg528Cys)	DDX3X (R528C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 280514	NM_001356.5(DDX3X):c.1807C>T (p.Arg603Ter)	DDX3X (R603* +3 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability +2 more	GPathogenic

ClinVar