"PreventionGenetics, part of Exact Sciences"[submitter] AND "MBD1"[gen - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3056934	NM_001204141.2(MBD1):c.1689C>T (p.Ser563=)	MBD1	Single nucleotide variant (3 prime UTR variant +1 more)	MBD1-related disorder	GBenign
Select item 3060893	NM_015846.4(MBD1):c.*204C>T	MBD1	Single nucleotide variant (synonymous variant +2 more)	MBD1-related disorder	GBenign
Select item 3049833	NM_015846.4(MBD1):c.*33-4G>C	MBD1	Single nucleotide variant (3 prime UTR variant +1 more)	MBD1-related disorder	GLikely benign
Select item 3024799	NM_015846.4(MBD1):c.*33-211T>G	MBD1 (I545M)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 403072	NM_015846.4(MBD1):c.1410G>A (p.Pro470=)	MBD1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 783070	NM_015846.4(MBD1):c.1353G>A (p.Pro451=)	MBD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3060114	NM_015846.4(MBD1):c.1201C>G (p.Pro401Ala)	MBD1 (P153A +26 more)	Single nucleotide variant (missense variant)	MBD1-related disorder	GBenign
Select item 3046595	NM_015846.4(MBD1):c.1161C>G (p.Pro387=)	MBD1	Single nucleotide variant (synonymous variant)	MBD1-related disorder	GLikely benign
Select item 2635503	NM_015846.4(MBD1):c.944A>C (p.Glu315Ala)	MBD1 (E146A +7 more)	Single nucleotide variant (missense variant +1 more)	MBD1-related disorder	GUncertain significance
Select item 3033289	NM_015846.4(MBD1):c.861G>A (p.Gln287=)	MBD1	Single nucleotide variant (synonymous variant)	MBD1-related disorder	GLikely benign
Select item 3053644	NM_015846.4(MBD1):c.793-131C>T	MBD1	Single nucleotide variant (synonymous variant +1 more)	MBD1-related disorder	GLikely benign
Select item 3060260	NM_015846.4(MBD1):c.792+170C>T	MBD1	Single nucleotide variant (synonymous variant +1 more)	MBD1-related disorder	GBenign
Select item 3055392	NM_015846.4(MBD1):c.664-9C>T	MBD1	Single nucleotide variant (intron variant)	MBD1-related disorder	GBenign
Select item 734848	NM_015846.4(MBD1):c.441G>A (p.Arg147=)	MBD1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign