Related gene-specific medical variations for Gene (Select 4661) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 975612	NM_004535.3(MYT1):c.2460C>A (p.Ser820Arg)	MYT1 (S820R)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 975611	NM_004535.3(MYT1):c.346G>A (p.Glu116Lys)	MYT1 (E116K)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 975610	NM_004535.3(MYT1):c.655G>C (p.Glu219Gln)	MYT1 (E219Q)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 685509	GRCh37/hg19 20q13.33(chr20:62770505-62825339)x1	MYT1	Copy number loss	not provided	GUncertain significance

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