"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "MYT1"[gene - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 779474	NM_004535.3(MYT1):c.315G>A (p.Ser105=)	MYT1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 717277	NM_004535.3(MYT1):c.384C>T (p.Pro128=)	MYT1	Single nucleotide variant (synonymous variant)	MYT1-related condition +1 more	GLikely benign
Select item 2652567	NM_004535.3(MYT1):c.817G>A (p.Glu273Lys)	MYT1 (E273K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2652568	NM_004535.3(MYT1):c.873A>G (p.Glu291=)	MYT1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 780194	NM_004535.3(MYT1):c.2649C>T (p.Asp883=)	MYT1	Single nucleotide variant (synonymous variant)	MYT1-related condition +1 more	GBenign/Likely benign
Select item 715432	NM_004535.3(MYT1):c.2760C>T (p.Ala920=)	MYT1	Single nucleotide variant (synonymous variant)	MYT1-related condition +1 more	GBenign/Likely benign
Select item 425532	GRCh37/hg19 20q13.33(chr20:61337529-62904501)x1	COL9A3, DIDO1 +46 more	Copy number loss	not provided	GLikely pathogenic

ClinVar