C4014414[trait identifier] AND "Mendelics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1685692	NM_021008.4(DEAF1):c.883A>G (p.Arg295Gly)	DEAF1 (R295G +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 24	GPathogenic
Select item 802645	NM_021008.4(DEAF1):c.880G>C (p.Val294Leu)	DEAF1 (V52L +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 24	GLikely pathogenic
Select item 422488	NM_021008.4(DEAF1):c.716A>G (p.Glu239Gly)	DEAF1 (E239G)	Single nucleotide variant (intron variant +2 more)	Intellectual disability, autosomal dominant 24 +1 more	GConflicting classifications of pathogenicity
Select item 1685295	NM_021008.4(DEAF1):c.682A>T (p.Ile228Phe)	DEAF1 (I228F)	Single nucleotide variant (5 prime UTR variant +2 more)	Intellectual disability, autosomal dominant 24	GLikely pathogenic
Select item 802646	NM_021008.4(DEAF1):c.84_98del (p.Ala29_Ala33del)	DEAF1	Deletion (inframe_deletion +1 more)	Intellectual disability, autosomal dominant 24	GUncertain significance
Select item 802647	NM_021008.4(DEAF1):c.34_35dup (p.Leu13fs)	DEAF1 (L13fs)	Duplication (frameshift variant +1 more)	Intellectual disability, autosomal dominant 24 +1 more	GPathogenic/Likely pathogenic

ClinVar