"Ambry Genetics"[submitter] AND "MBD5"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2230959	NM_001378120.1(MBD5):c.40G>A (p.Gly14Arg)	MBD5 (G14R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 386565	NM_001378120.1(MBD5):c.60A>G (p.Gln20=)	MBD5	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 198228	NM_001378120.1(MBD5):c.69G>A (p.Val23=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1 +3 more	GConflicting classifications of pathogenicity
Select item 1758745	NM_001378120.1(MBD5):c.74_83del (p.Trp25fs)	MBD5 (W25fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 521204	NM_001378120.1(MBD5):c.75G>A (p.Trp25Ter)	MBD5 (W25*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
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 198891	NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu)	MBD5 (G79E)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 211437	NM_001378120.1(MBD5):c.267T>C (p.Asp89=)	MBD5	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 331331	NM_001378120.1(MBD5):c.274G>A (p.Ala92Thr)	MBD5 (A92T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 138172	NM_001378120.1(MBD5):c.297A>G (p.Leu99=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1 +4 more	GBenign
Select item 3124053	NM_001378120.1(MBD5):c.316A>T (p.Ile106Phe)	MBD5 (I106F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 643400	NM_001378120.1(MBD5):c.385G>A (p.Gly129Arg)	MBD5 (G129R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +1 more	GLikely benign
Select item 449658	NM_001378120.1(MBD5):c.422G>A (p.Arg141Gln)	MBD5 (R141Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +2 more	GConflicting classifications of pathogenicity
Select item 2335722	NM_001378120.1(MBD5):c.433C>G (p.Pro145Ala)	MBD5 (P145A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 378114	NM_001378120.1(MBD5):c.471A>G (p.Thr157=)	MBD5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 589251	NM_001378120.1(MBD5):c.557T>C (p.Leu186Pro)	MBD5 (L186P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1075828	NM_001378120.1(MBD5):c.598C>T (p.Arg200Ter)	MBD5 (R200*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 199148	NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln)	MBD5 (R200Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 261023	NM_001378120.1(MBD5):c.675G>A (p.Ala225=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1 +2 more	GLikely benign
Select item 199149	NM_001378120.1(MBD5):c.692T>C (p.Ile231Thr)	MBD5 (I231T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +4 more	GConflicting classifications of pathogenicity
Select item 1639029	NM_001378120.1(MBD5):c.707C>T (p.Ser236Leu)	MBD5 (S236L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +1 more	GLikely benign
Select item 440935	NM_001378120.1(MBD5):c.709A>G (p.Ile237Val)	MBD5 (I237V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 468785	NM_001378120.1(MBD5):c.718A>G (p.Arg240Gly)	MBD5 (R240G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2256158	NM_001378120.1(MBD5):c.719G>T (p.Arg240Met)	MBD5 (R240M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 654882	NM_001378120.1(MBD5):c.742G>C (p.Asp248His)	MBD5 (D248H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +1 more	GUncertain significance
Select item 536670	NM_001378120.1(MBD5):c.763C>T (p.Pro255Ser)	MBD5 (P255S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 199147	NM_001378120.1(MBD5):c.796A>G (p.Ile266Val)	MBD5 (I266V)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1024455	NM_001378120.1(MBD5):c.817C>G (p.Leu273Val)	MBD5 (L273V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 985965	NM_001378120.1(MBD5):c.832G>A (p.Val278Ile)	MBD5 (V278I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569390	NM_001378120.1(MBD5):c.853G>A (p.Val285Ile)	MBD5 (V285I)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 985179	NM_001378120.1(MBD5):c.877G>A (p.Gly293Arg)	MBD5 (G293R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2280365	NM_001378120.1(MBD5):c.880A>G (p.Arg294Gly)	MBD5 (R294G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 206064	NM_001378120.1(MBD5):c.884C>G (p.Thr295Ser)	MBD5 (T295S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +2 more	GConflicting classifications of pathogenicity
Select item 1765910	NM_001378120.1(MBD5):c.912T>A (p.Thr304=)	MBD5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1766731	NM_001378120.1(MBD5):c.937C>A (p.Pro313Thr)	MBD5 (P313T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +1 more	GUncertain significance
Select item 206065	NM_001378120.1(MBD5):c.961A>G (p.Met321Val)	MBD5 (M321V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +2 more	GConflicting classifications of pathogenicity
Select item 521004	NM_001378120.1(MBD5):c.973C>T (p.Arg325Ter)	MBD5 (R325*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 2619742	NM_001378120.1(MBD5):c.991A>G (p.Lys331Glu)	MBD5 (K331E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 206068	NM_001378120.1(MBD5):c.1111C>G (p.Gln371Glu)	MBD5 (Q371E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 536675	NM_001378120.1(MBD5):c.1198G>A (p.Val400Ile)	MBD5 (V400I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 420374	NM_001378120.1(MBD5):c.1234G>A (p.Val412Ile)	MBD5 (V412I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1757143	NM_001378120.1(MBD5):c.1237A>G (p.Lys413Glu)	MBD5 (K413E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 647451	NM_001378120.1(MBD5):c.1249A>G (p.Met417Val)	MBD5 (M417V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +1 more	GConflicting classifications of pathogenicity
Select item 1760975	NM_001378120.1(MBD5):c.1252A>T (p.Asn418Tyr)	MBD5 (N418Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2543275	NM_001378120.1(MBD5):c.1266T>G (p.His422Gln)	MBD5 (H422Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 468769	NM_001378120.1(MBD5):c.1304C>T (p.Ser435Phe)	MBD5 (S435F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 138174	NM_001378120.1(MBD5):c.1368G>T (p.Ser456=)	MBD5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 206112	NM_001378120.1(MBD5):c.1382G>A (p.Arg461His)	MBD5 (R461H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2275015	NM_001378120.1(MBD5):c.1402G>C (p.Asp468His)	MBD5 (D468H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 199150	NM_001378120.1(MBD5):c.1406A>G (p.His469Arg)	MBD5 (H469R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +2 more	GUncertain significance
Select item 206072	NM_001378120.1(MBD5):c.1535C>T (p.Ser512Phe)	MBD5 (S512F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 468771	NM_001378120.1(MBD5):c.1589G>A (p.Ser530Asn)	MBD5 (S530N)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 206073	NM_001378120.1(MBD5):c.1591A>G (p.Asn531Asp)	MBD5 (N531D)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +3 more	GLikely benign
Select item 3124047	NM_001378120.1(MBD5):c.1592A>T (p.Asn531Ile)	MBD5 (N531I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124048	NM_001378120.1(MBD5):c.1594G>T (p.Val532Leu)	MBD5 (V532L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 138175	NM_001378120.1(MBD5):c.1596A>G (p.Val532=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1 +3 more	GBenign
Select item 1776345	NM_001378120.1(MBD5):c.1609A>G (p.Ser537Gly)	MBD5 (S537G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 199151	NM_001378120.1(MBD5):c.1638C>T (p.Ala546=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1 +3 more	GBenign/Likely benign
Select item 1061752	NM_001378120.1(MBD5):c.1828G>A (p.Gly610Ser)	MBD5 (G610S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2321759	NM_001378120.1(MBD5):c.1859T>C (p.Leu620Ser)	MBD5 (L620S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +1 more	GUncertain significance
Select item 521153	NM_001378120.1(MBD5):c.1895T>C (p.Leu632Pro)	MBD5 (L632P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 384481	NM_001378120.1(MBD5):c.1911G>T (p.Gly637=)	MBD5	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 2323546	NM_001378120.1(MBD5):c.1928C>T (p.Ala643Val)	MBD5 (A643V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 942726	NM_001378120.1(MBD5):c.1969C>T (p.Arg657Trp)	MBD5 (R657W)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +1 more	GConflicting classifications of pathogenicity
Select item 588487	NM_001378120.1(MBD5):c.1971G>A (p.Arg657=)	MBD5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 834115	NM_001378120.1(MBD5):c.1985C>A (p.Pro662Gln)	MBD5 (P662Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 287556	NM_001378120.1(MBD5):c.2010C>G (p.Leu670=)	MBD5	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 576869	NM_001378120.1(MBD5):c.2011A>G (p.Arg671Gly)	MBD5 (R671G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +2 more	GConflicting classifications of pathogenicity
Select item 95899	NM_001378120.1(MBD5):c.2030G>A (p.Ser677Asn)	MBD5 (S677N)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 2282570	NM_001378120.1(MBD5):c.2093T>C (p.Ile698Thr)	MBD5 (I698T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 206080	NM_001378120.1(MBD5):c.2162C>T (p.Pro721Leu)	MBD5 (P721L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +3 more	GBenign/Likely benign
Select item 2260463	NM_001378120.1(MBD5):c.2219C>G (p.Thr740Arg)	MBD5 (T740R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 378115	NM_001378120.1(MBD5):c.2254A>G (p.Ile752Val)	MBD5 (I752V)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 3124049	NM_001378120.1(MBD5):c.2265A>T (p.Arg755Ser)	MBD5 (R755S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 199146	NM_001378120.1(MBD5):c.2279A>G (p.His760Arg)	MBD5 (H760R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +3 more	GConflicting classifications of pathogenicity
Select item 3124050	NM_001378120.1(MBD5):c.2305G>T (p.Val769Phe)	MBD5 (V769F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2433663	NM_001378120.1(MBD5):c.2305G>A (p.Val769Ile)	MBD5 (V769I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +2 more	GConflicting classifications of pathogenicity
Select item 2598085	NM_001378120.1(MBD5):c.2312G>A (p.Ser771Asn)	MBD5 (S771N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1789774	NM_001378120.1(MBD5):c.2336A>G (p.His779Arg)	MBD5 (H779R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 589643	NM_001378120.1(MBD5):c.2399G>C (p.Gly800Ala)	MBD5 (G800A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 206084	NM_001378120.1(MBD5):c.2399G>A (p.Gly800Asp)	MBD5 (G800D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1617783	NM_001378120.1(MBD5):c.2429A>G (p.Asn810Ser)	MBD5 (N810S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +1 more	GConflicting classifications of pathogenicity
Select item 646236	NM_001378120.1(MBD5):c.2521G>A (p.Gly841Ser)	MBD5 (G841S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +1 more	GBenign/Likely benign
Select item 658811	NM_001378120.1(MBD5):c.2543T>G (p.Ile848Arg)	MBD5 (I848R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1010056	NM_001378120.1(MBD5):c.2558C>T (p.Thr853Ile)	MBD5 (T853I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1515806	NM_001378120.1(MBD5):c.2565C>G (p.His855Gln)	MBD5 (H855Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 95901	NM_001378120.1(MBD5):c.2605G>A (p.Val869Ile)	MBD5 (V869I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +3 more	GBenign/Likely benign
Select item 1794047	NM_001378120.1(MBD5):c.2630A>G (p.Asn877Ser)	MBD5 (N877S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3124051	NM_001378120.1(MBD5):c.2651C>T (p.Pro884Leu)	MBD5 (P884L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 468776	NM_001378120.1(MBD5):c.2689G>A (p.Ala897Thr)	MBD5 (A897T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 206089	NM_001378120.1(MBD5):c.2689G>T (p.Ala897Ser)	MBD5 (A897S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +1 more	GLikely benign
Select item 654202	NM_001378120.1(MBD5):c.3590C>T (p.Thr1197Ile)	MBD5 (T964I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 241285	NM_001378120.1(MBD5):c.3677A>C (p.Gln1226Pro)	MBD5 (Q993P +1 more)	Single nucleotide variant (missense variant)	MBD5-related condition +3 more	GBenign/Likely benign
Select item 206115	NM_001378120.1(MBD5):c.3678G>C (p.Gln1226His)	MBD5 (Q993H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +4 more	GConflicting classifications of pathogenicity
Select item 193911	NM_001378120.1(MBD5):c.3743A>G (p.Gln1248Arg)	MBD5 (Q1015R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +4 more	GBenign/Likely benign
Select item 1047665	NM_001378120.1(MBD5):c.3758G>A (p.Arg1253Lys)	MBD5 (R1020K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3124052	NM_001378120.1(MBD5):c.3775G>A (p.Ala1259Thr)	MBD5 (A1259T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign

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