MBD5[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	Intellectual Disability, Dominant +2 more	GConflicting classifications of pathogenicity
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 138171	NM_001378120.1(MBD5):c.-556-8T>C	MBD5	Single nucleotide variant (intron variant)	not specified +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)	not provided +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)	not specified +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)	Inborn genetic diseases +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)	Intellectual disability, autosomal dominant 1 +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 +3 more	GConflicting classifications of pathogenicity
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)	Intellectual disability, autosomal dominant 1 +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)	not provided +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 +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)	not specified +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)	Intellectual disability, autosomal dominant 1 +1 more	GLikely benign
Select item 677680	NM_001378120.1(MBD5):c.113+166_113+167insG	MBD5	Insertion (intron variant)	not provided	GLikely benign
Select item 683131	NM_001378120.1(MBD5):c.113+221A>G	MBD5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271018	NM_001378120.1(MBD5):c.114-168T>G	MBD5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 422845	NM_001378120.1(MBD5):c.114-16dup	MBD5	Duplication (intron variant)	not specified	GLikely benign
Select item 2137236	NM_001378120.1(MBD5):c.114-20T>G	MBD5	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 1573175	NM_001378120.1(MBD5):c.114-19T>G	MBD5	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 1878736	NM_001378120.1(MBD5):c.114-9T>G	MBD5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1684875	NM_001378120.1(MBD5):c.114-3C>T	MBD5	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 658842	NM_001378120.1(MBD5):c.114-2A>T	MBD5	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal dominant 1	GLikely pathogenic
Select item 1935153	NM_001378120.1(MBD5):c.133T>A (p.Ser45Thr)	MBD5 (S45T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 1341886	NM_001378120.1(MBD5):c.136T>C (p.Cys46Arg)	MBD5 (C46R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2827419	NM_001378120.1(MBD5):c.138C>T (p.Cys46=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 1425995	NM_001378120.1(MBD5):c.143del (p.Glu48fs)	MBD5 (E48fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 1	GPathogenic
Select item 88896	NM_001378120.1(MBD5):c.150del (p.Thr52fs)	MBD5 (T52fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 1	GPathogenic
Select item 468770	NM_001378120.1(MBD5):c.156A>G (p.Thr52=)	MBD5	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 2040344	NM_001378120.1(MBD5):c.162G>C (p.Leu54=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 1313091	NM_001378120.1(MBD5):c.163C>G (p.Leu55Val)	MBD5 (L55V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1095895	NM_001378120.1(MBD5):c.171T>C (p.Asp57=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 2579891	NM_001378120.1(MBD5):c.172G>A (p.Gly58Arg)	MBD5 (G58R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1075127	NM_001378120.1(MBD5):c.180C>A (p.Cys60Ter)	MBD5 (C60*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 1 +1 more	GPathogenic
Select item 1145406	NM_001378120.1(MBD5):c.183G>A (p.Lys61=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1 +1 more	GLikely benign
Select item 2837521	NM_001378120.1(MBD5):c.188dup (p.Glu65fs)	MBD5 (E65fs)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 1	GPathogenic
Select item 1156148	NM_001378120.1(MBD5):c.189C>T (p.Gly63=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 2749766	NM_001378120.1(MBD5):c.196dup (p.Cys66fs)	MBD5 (C66fs)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 1	GPathogenic
Select item 1336912	NM_001378120.1(MBD5):c.195A>G (p.Glu65=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1 +1 more	GLikely benign
Select item 1108962	NM_001378120.1(MBD5):c.198T>C (p.Cys66=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 1800633	NM_001378120.1(MBD5):c.199C>T (p.Pro67Ser)	MBD5 (P67S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 206057	NM_001378120.1(MBD5):c.205A>G (p.Ile69Val)	MBD5 (I69V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1531580	NM_001378120.1(MBD5):c.211C>T (p.Pro71Ser)	MBD5 (P71S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GLikely benign

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