C4225296[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 617493	NM_001303052.2(MYT1L):c.1678C>T (p.His560Tyr)	MYT1L (H560Y +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 975966	NM_001303052.2(MYT1L):c.1672C>T (p.Arg558Cys)	MYT1L (R556C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 39	GLikely pathogenic
Select item 1697307	NM_001303052.2(MYT1L):c.1538G>T (p.Gly513Val)	MYT1L (G511V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 39	GLikely pathogenic
Select item 983127	NM_001303052.2(MYT1L):c.569A>G (p.Asn190Ser)	MYT1L (N190S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 39	GUncertain significance
Select item 1330210	GRCh37/hg19 2p25.3(chr2:10501-2386917)x1	PXDN, ACP1 +7 more	Copy number loss	Intellectual disability, autosomal dominant 39	GPathogenic
Select item 975985	NC_000002.12:g.1852253_1943384dup	MYT1L	Duplication	Intellectual disability, autosomal dominant 39	GUncertain significance

ClinVar