"Revvity Omics, Revvity"[submitter] AND "MYT1L"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2434004	NM_001303052.2(MYT1L):c.3196A>C (p.Lys1066Gln)	MYT1L (K1064Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 39	GUncertain significance
Select item 2434007	NM_001303052.2(MYT1L):c.3014T>C (p.Met1005Thr)	MYT1L (M1003T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 39	GUncertain significance
Select item 2434010	NM_001303052.2(MYT1L):c.2622G>C (p.Glu874Asp)	MYT1L (E872D +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 39	GUncertain significance
Select item 2434008	NM_001303052.2(MYT1L):c.2530T>C (p.Leu844=)	MYT1L	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 39	GUncertain significance
Select item 2434005	NM_001303052.2(MYT1L):c.2293A>G (p.Met765Val)	MYT1L (M763V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 39	GUncertain significance
Select item 1675763	NM_001303052.2(MYT1L):c.1573C>T (p.Arg525Cys)	MYT1L (R523C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 39 +1 more	GConflicting classifications of pathogenicity
Select item 2689521	NM_001303052.2(MYT1L):c.1423G>A (p.Gly475Arg)	MYT1L (G475R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 39	GUncertain significance
Select item 2434006	NM_001303052.2(MYT1L):c.1276A>G (p.Met426Val)	MYT1L (M426V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 39	GUncertain significance
Select item 2434009	NM_001303052.2(MYT1L):c.926G>A (p.Gly309Glu)	MYT1L (G309E)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 39	GUncertain significance
Select item 2389981	NM_001303052.2(MYT1L):c.21G>C (p.Glu7Asp)	MYT1L (E7D)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 39 +1 more	GConflicting classifications of pathogenicity