"PreventionGenetics, part of Exact Sciences"[submitter] AND "MBD4"[gen - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3053265	NM_001276270.2(MBD4):c.1647+60C>T	MBD4	Single nucleotide variant (3 prime UTR variant +1 more)	MBD4-related disorder	GLikely benign
Select item 722362	NM_001276270.2(MBD4):c.1590G>A (p.Gly530=)	MBD4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3029610	NM_001276270.2(MBD4):c.1469G>A (p.Trp490Ter)	MBD4 (W178* +2 more)	Single nucleotide variant (nonsense)	MBD4-related disorder	GUncertain significance
Select item 3053345	NM_001276270.2(MBD4):c.1456A>C (p.Arg486=)	MBD4	Single nucleotide variant (synonymous variant)	MBD4-related disorder	GLikely benign
Select item 1336001	NM_001276270.2(MBD4):c.1382A>G (p.Asn461Ser)	MBD4 (N149S +2 more)	Single nucleotide variant (missense variant)	MBD4-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2084666	NM_001276270.2(MBD4):c.1350A>G (p.Pro450=)	MBD4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1299953	NM_001276270.2(MBD4):c.1073T>C (p.Ile358Thr)	MBD4 (I358T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 1268570	NM_001276270.2(MBD4):c.1024T>C (p.Ser342Pro)	MBD4 (S342P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 2807074	NM_001276270.2(MBD4):c.939del (p.Glu314fs)	MBD4 (E314fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1981097	NM_001276270.2(MBD4):c.494C>G (p.Ser165Cys)	MBD4 (S165C)	Single nucleotide variant (missense variant +1 more)	MBD4-related disorder +1 more	GUncertain significance
Select item 2713242	NM_001276270.2(MBD4):c.347T>G (p.Leu116Arg)	MBD4 (L116R)	Single nucleotide variant (missense variant +1 more)	MBD4-related disorder +2 more	GUncertain significance
Select item 2038734	NM_001276270.2(MBD4):c.336C>T (p.Ser112=)	MBD4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1336002	NM_001276270.2(MBD4):c.181T>C (p.Cys61Arg)	MBD4 (C61R)	Single nucleotide variant (missense variant)	MBD4-related disorder +2 more	GLikely benign
Select item 2753201	NM_001276270.2(MBD4):c.99C>A (p.Asp33Glu)	MBD4 (D33E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1337923	NM_001276270.2(MBD4):c.31C>T (p.Leu11=)	LOC129937550, MBD4	Single nucleotide variant (synonymous variant)	MBD4-related disorder +2 more	GLikely benign