"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "MBD5"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 198891	NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu)	MBD5 (G79E)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 449658	NM_001378120.1(MBD5):c.422G>A (p.Arg141Gln)	MBD5 (R141Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 935684	NM_001378120.1(MBD5):c.515T>C (p.Ile172Thr)	MBD5 (I172T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 206067	NM_001378120.1(MBD5):c.1055C>T (p.Thr352Ile)	MBD5 (T352I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +1 more	GConflicting classifications of pathogenicity
Select item 932371	NM_001378120.1(MBD5):c.2074G>A (p.Gly692Ser)	MBD5 (G692S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2682748	NM_001378120.1(MBD5):c.2674G>C (p.Val892Leu)	MBD5 (V892L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 193912	NM_001378120.1(MBD5):c.3602C>T (p.Ser1201Leu)	MBD5 (S968L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1152961	NM_001378120.1(MBD5):c.3642A>T (p.Gln1214His)	MBD5 (Q1214H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 435826	NM_001378120.1(MBD5):c.4970C>A (p.Pro1657His)	MBD5 (P1424H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity