C2677903[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 161271	NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)	LDLR (G592E +3 more)	Single nucleotide variant (missense variant)	Hypercholesterolemia, familial, 1	GPathogenic FDA Recognized database
Select item 2582326	NM_001367721.1(CASK):c.1690_1691del (p.Thr564fs)	CASK (T558fs +1 more)	Deletion (frameshift variant)	Syndromic X-linked intellectual disability Najm type	GLikely pathogenic
Select item 689749	NM_001367721.1(CASK):c.913_914dup (p.Gly306fs)	CASK (G306fs)	Duplication (frameshift variant)	FG syndrome 4 +1 more	GPathogenic
Select item 833988	NM_001367721.1(CASK):c.709-3C>T	CASK	Single nucleotide variant (intron variant)	Intellectual disability, CASK-related, X-linked +1 more	GConflicting classifications of pathogenicity
Select item 2441639	NM_001367721.1(CASK):c.589G>T (p.Gly197Ter)	CASK (G197*)	Single nucleotide variant (nonsense)	Syndromic X-linked intellectual disability Najm type	GPathogenic
Select item 195200	NM_001367721.1(CASK):c.79C>T (p.Arg27Ter)	CASK (R27*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1030696	NM_001367721.1(CASK):c.56G>A (p.Gly19Glu)	CASK (G19E)	Single nucleotide variant (missense variant)	Syndromic X-linked intellectual disability Najm type	GUncertain significance

ClinVar