MBD5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146076	GRCh38/hg38 2q22.3-24.1(chr2:143900149-158321624)x3	ACVR1, ACVR1C +238 more	Copy number gain	See cases	GPathogenic
Select item 152517	GRCh38/hg38 2q22.3-23.2(chr2:145471053-149582570)x1	ACVR2A, EPC2 +54 more	Copy number loss	See cases	GPathogenic
Select item 154515	GRCh38/hg38 2q22.3-24.1(chr2:146324191-156219125)x3	ACVR2A, ARL5A +146 more	Copy number gain	See cases	GPathogenic
Select item 60216	GRCh38/hg38 2q22.3-24.1(chr2:147251948-157856378)x1	ACVR1, ACVR1C +189 more	Copy number loss	See cases	GPathogenic
Select item 146065	GRCh38/hg38 2q22.3-23.2(chr2:147473194-149279840)x3	ACVR2A, EPC2 +32 more	Copy number gain	See cases	GUncertain significance
Select item 60217	GRCh38/hg38 2q22.3-23.3(chr2:147590324-153496674)x1	ACVR2A, ARL5A +119 more	Copy number loss	See cases	GPathogenic
Select item 150047	GRCh38/hg38 2q22.3-23.1(chr2:147680433-148220153)x1	ACVR2A, LOC126806366 +7 more	Copy number loss	See cases	GLikely pathogenic
Select item 57146	GRCh38/hg38 2q22.3-23.1(chr2:147713771-148177277)x1	ACVR2A, LOC126806366 +7 more	Copy number loss	See cases	GLikely pathogenic
Select item 153625	GRCh38/hg38 2q22.3-23.1(chr2:147732899-148156266)x1	ACVR2A, LOC126806366 +7 more	Copy number loss	See cases	GPathogenic
Select item 183385	NC_000002.10:g.(148432391_148447295)_(148651456_148737275)del	LOC126806366, LOC126806367 +4 more	Deletion	Intellectual disability, autosomal dominant 1	GPathogenic
Select item 154732	GRCh38/hg38 2q23.1(chr2:147969499-148102235)x3	LOC126806366, LOC129934887 +3 more	Copy number gain	See cases	GLikely benign
Select item 148360	GRCh38/hg38 2q23.1(chr2:147969499-148122112)x1	LOC126806366, LOC129934887 +3 more	Copy number loss	See cases	GLikely pathogenic
Select item 183383	NC_000002.10:g.148447496_149377297del	LOC129934890, LOC129934891 +15 more	Deletion	Intellectual disability, autosomal dominant 1	GPathogenic
Select item 154938	GRCh38/hg38 2q23.1(chr2:147986311-148198151)x1	LOC126806366, LOC129934887 +3 more	Copy number loss	See cases	GPathogenic
Select item 153814	GRCh38/hg38 2q23.1(chr2:147988713-148069129)x1	LOC126806366, LOC129934887 +3 more	Copy number loss	See cases	GLikely pathogenic
Select item 545246	NC_000002.12:g.(?_147990605)_(148350066_?)del	LOC126806366, LOC126806367 +4 more	Deletion	Schizophrenia	GPathogenic
Select item 381693	NM_018328.5(MBD5):c.-974A>G	MBD5, ORC4	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 517739	NM_018328.5(MBD5):c.-973G>A	MBD5, ORC4	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 381112	NM_018328.5(MBD5):c.-962+16C>T	MBD5, ORC4	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2651401	NM_001378120.1(MBD5):c.-1114GCTACTGCTGCTGCT[3]	MBD5, ORC4	Microsatellite (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2651402	NM_001378120.1(MBD5):c.-1114GCTACTGCTGCTGCT[1]	MBD5, ORC4	Microsatellite (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2651403	NM_001378120.1(MBD5):c.-1112_-1111insGTT	MBD5, ORC4	Insertion (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 378113	NM_001378120.1(MBD5):c.-933G>A	MBD5	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 386656	NM_001378120.1(MBD5):c.-925+18G>A	MBD5	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 148899	GRCh38/hg38 2q23.1(chr2:148029482-148303194)x1	LOC126806367, LOC129934888 +1 more	Copy number loss	See cases	GUncertain significance
Select item 154051	GRCh38/hg38 2q23.1(chr2:148052791-148429544)x3	LOC126806367, MBD5	Copy number gain	See cases	GUncertain significance
Select item 1180432	NC_000002.12:g.148082082_148203828del	MBD5	Deletion	See cases	Gnot provided
Select item 2665072	GRCh38/hg38 2q23.1(chr2:148120444-148180182)	MBD5	Copy number loss	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 545247	NC_000002.12:g.(?_148139385)_(148242336_?)del	MBD5	Deletion	Schizophrenia	GPathogenic
Select item 545248	NC_000002.12:g.(?_148157591)_(148226058_?)del	MBD5	Deletion	Autism +1 more	GPathogenic
Select item 545249	NC_000002.12:g.(?_148158424)_(148226279_?)del	MBD5	Deletion	Schizophrenia	GPathogenic
Select item 149709	GRCh38/hg38 2q23.1(chr2:148177218-148220153)x1	MBD5	Copy number loss	See cases	GLikely pathogenic
Select item 1262738	NM_001378120.1(MBD5):c.-924-89A>C	MBD5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682419	NM_001378120.1(MBD5):c.-924-3T>C	MBD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 206049	NM_001378120.1(MBD5):c.-831+9dup	MBD5	Duplication (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3237206	GRCh38/hg38 2q23.1(chr2:148198092-148263296)x1	LOC126806367, MBD5	Copy number loss	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 545250	NC_000002.12:g.(?_148211972)_(148423169_?)del	LOC126806367, MBD5	Deletion	Schizophrenia	GPathogenic
Select item 1265319	NM_001378120.1(MBD5):c.-829A>G	MBD5	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 511202	NM_001378120.1(MBD5):c.-826A>G	MBD5	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 390534	NM_001378120.1(MBD5):c.-693A>G	MBD5	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 331321	NM_001378120.1(MBD5):c.-663C>T	MBD5	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1273852	NM_001378120.1(MBD5):c.-660A>T	MBD5	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 507022	NM_001378120.1(MBD5):c.-660A>C	MBD5	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 331323	NM_001378120.1(MBD5):c.-591dup	MBD5	Duplication (5 prime UTR variant)	Intellectual Disability, Dominant	GUncertain significance
Select item 511860	NM_001378120.1(MBD5):c.-557+6C>A	MBD5	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1700716	NM_001378120.1(MBD5):c.-557+104G>A	MBD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243796	NM_001378120.1(MBD5):c.-557+197A>T	MBD5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295206	NM_001378120.1(MBD5):c.-557+247T>C	MBD5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 150817	GRCh38/hg38 2q23.1-23.2(chr2:148440874-149091788)x1	EPC2, KIF5C +21 more	Copy number loss	See cases	GPathogenic
Select item 148618	GRCh38/hg38 2q23.1(chr2:148440874-148677035)x3	EPC2, LOC129934889 +7 more	Copy number gain	See cases	GUncertain significance
Select item 138171	NM_001378120.1(MBD5):c.-556-8T>C	MBD5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 583570	NC_000002.11:g.(?_149216308)_(149270530_?)dup	MBD5	Duplication	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 813806	NM_001378120.1(MBD5):c.1A>G (p.Met1Val)	MBD5 (M1V)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 1	GLikely pathogenic
Select item 198229	NM_001378120.1(MBD5):c.8G>T (p.Gly3Val)	MBD5 (G3V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +1 more	GUncertain significance
Select item 1705638	NM_001378120.1(MBD5):c.14_15del (p.Lys5fs)	MBD5 (K5fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 1	GPathogenic
Select item 1721982	NM_001378120.1(MBD5):c.16G>C (p.Glu6Gln)	MBD5 (E6Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2190328	NM_001378120.1(MBD5):c.18G>A (p.Glu6=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 662420	NM_001378120.1(MBD5):c.19T>C (p.Cys7Arg)	MBD5 (C7R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +1 more	GUncertain significance
Select item 373711	NM_001378120.1(MBD5):c.19T>A (p.Cys7Ser)	MBD5 (C7S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +1 more	GConflicting classifications of pathogenicity
Select item 1124406	NM_001378120.1(MBD5):c.24C>T (p.Asp8=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1 +1 more	GLikely benign
Select item 1378142	NM_001378120.1(MBD5):c.25G>A (p.Gly9Arg)	MBD5 (G9R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +1 more	GConflicting classifications of pathogenicity
Select item 579901	NM_001378120.1(MBD5):c.25G>C (p.Gly9Arg)	MBD5 (G9R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +2 more	GConflicting classifications of pathogenicity
Select item 2815965	NM_001378120.1(MBD5):c.27A>T (p.Gly9=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 859055	NM_001378120.1(MBD5):c.28G>A (p.Gly10Arg)	MBD5 (G10R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2801859	NM_001378120.1(MBD5):c.30G>A (p.Gly10=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 2038483	NM_001378120.1(MBD5):c.32A>G (p.Asp11Gly)	MBD5 (D11G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2230959	NM_001378120.1(MBD5):c.40G>A (p.Gly14Arg)	MBD5 (G14R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 516380	NM_001378120.1(MBD5):c.46C>A (p.Leu16Ile)	MBD5 (L16I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +1 more	GLikely benign
Select item 2763152	NM_001378120.1(MBD5):c.50C>A (p.Pro17Gln)	MBD5 (P17Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 1043734	NM_001378120.1(MBD5):c.50C>T (p.Pro17Leu)	MBD5 (P17L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 570971	NM_001378120.1(MBD5):c.55A>G (p.Ile19Val)	MBD5 (I19V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 1050948	NM_001378120.1(MBD5):c.57A>G (p.Ile19Met)	MBD5 (I19M)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 386565	NM_001378120.1(MBD5):c.60A>G (p.Gln20=)	MBD5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1715681	NM_001378120.1(MBD5):c.64C>T (p.Pro22Ser)	MBD5 (P22S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2893068	NM_001378120.1(MBD5):c.66T>C (p.Pro22=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 1675792	NM_001378120.1(MBD5):c.68del (p.Val23fs)	MBD5 (V23fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 198228	NM_001378120.1(MBD5):c.69G>A (p.Val23=)	MBD5	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3369986	NM_001378120.1(MBD5):c.70G>C (p.Gly24Arg)	MBD5 (G24R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305903	NM_001378120.1(MBD5):c.70G>T (p.Gly24Cys)	MBD5 (G24C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +1 more	GUncertain significance
Select item 1758745	NM_001378120.1(MBD5):c.74_83del (p.Trp25fs)	MBD5 (W25fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1709796	NM_001378120.1(MBD5):c.74G>A (p.Trp25Ter)	MBD5 (W25*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 1	GPathogenic/Likely pathogenic
Select item 521204	NM_001378120.1(MBD5):c.75G>A (p.Trp25Ter)	MBD5 (W25*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2744900	NM_001378120.1(MBD5):c.76C>T (p.Gln26Ter)	MBD5 (Q26*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 1	GPathogenic
Select item 858515	NM_001378120.1(MBD5):c.80G>A (p.Arg27His)	MBD5 (R27H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +1 more	GConflicting classifications of pathogenicity
Select item 1081081	NM_001378120.1(MBD5):c.81T>G (p.Arg27=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 796809	NM_001378120.1(MBD5):c.81T>C (p.Arg27=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 2884640	NM_001378120.1(MBD5):c.82C>T (p.Arg28Cys)	MBD5 (R28C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1057905	NM_001378120.1(MBD5):c.83G>A (p.Arg28His)	MBD5 (R28H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 385757	NM_001378120.1(MBD5):c.102G>T (p.Val34=)	MBD5	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1008731	NM_001378120.1(MBD5):c.103C>T (p.Leu35Phe)	MBD5 (L35F)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +1 more	GUncertain significance
Select item 943776	NM_001378120.1(MBD5):c.103C>A (p.Leu35Ile)	MBD5 (L35I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant +1 more	GUncertain significance
Select item 1599198	NM_001378120.1(MBD5):c.109G>A (p.Val37Ile)	MBD5 (V37I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GBenign
Select item 516167	NM_001378120.1(MBD5):c.113+4A>G	MBD5	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 1 +1 more	GLikely benign
Select item 2754732	NM_001378120.1(MBD5):c.113+5G>A	MBD5	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2133195	NM_001378120.1(MBD5):c.113+8C>T	MBD5	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 331330	NM_001378120.1(MBD5):c.113+8C>A	MBD5	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 2964832	NM_001378120.1(MBD5):c.113+9T>C	MBD5	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 2758868	NM_001378120.1(MBD5):c.113+9TTA[2]	MBD5	Microsatellite (intron variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 1110008	NM_001378120.1(MBD5):c.113+9T>G	MBD5	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 669032	NM_001378120.1(MBD5):c.113+14A>G	MBD5	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign

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