"GeneDx"[submitter] AND "MBD5"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 146065	GRCh38/hg38 2q22.3-23.2(chr2:147473194-149279840)x3	ACVR2A, EPC2 +32 more	Copy number gain	See cases	GUncertain significance
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	ORC4, MBD5	Single nucleotide variant (intron variant)	not specified	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 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 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 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 provided +1 more	GBenign
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 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 516380	NM_001378120.1(MBD5):c.46C>A (p.Leu16Ile)	MBD5 (L16I)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
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 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 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 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 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 669032	NM_001378120.1(MBD5):c.113+14A>G	MBD5	Single nucleotide variant (intron variant)	not provided +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 1878736	NM_001378120.1(MBD5):c.114-9T>G	MBD5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 2579891	NM_001378120.1(MBD5):c.172G>A (p.Gly58Arg)	MBD5 (G58R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3376096	NM_001378120.1(MBD5):c.179G>T (p.Cys60Phe)	MBD5 (C60F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1145406	NM_001378120.1(MBD5):c.183G>A (p.Lys61=)	MBD5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3364996	NM_001378120.1(MBD5):c.196T>C (p.Cys66Arg)	MBD5 (C66R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 387500	NM_001378120.1(MBD5):c.216+15A>G	MBD5	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 1 +1 more	GLikely benign
Select item 1264294	NM_001378120.1(MBD5):c.216+48T>A	MBD5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 206050	NM_001378120.1(MBD5):c.217-16G>C	MBD5	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
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 2663234	NM_001378120.1(MBD5):c.266A>G (p.Asp89Gly)	MBD5 (D89G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 211437	NM_001378120.1(MBD5):c.267T>C (p.Asp89=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1 +3 more	GLikely benign
Select item 1313274	NM_001378120.1(MBD5):c.275C>G (p.Ala92Gly)	MBD5 (A92G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 447708	NM_001378120.1(MBD5):c.276A>G (p.Ala92=)	MBD5	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 138172	NM_001378120.1(MBD5):c.297A>G (p.Leu99=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1 +3 more	GBenign
Select item 1313758	NM_001378120.1(MBD5):c.322G>A (p.Ala108Thr)	MBD5 (A108T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 382529	NM_001378120.1(MBD5):c.327G>A (p.Val109=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1 +1 more	GLikely benign
Select item 451107	NM_001378120.1(MBD5):c.328G>A (p.Ala110Thr)	MBD5 (A110T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1040069	NM_001378120.1(MBD5):c.353C>A (p.Ala118Asp)	MBD5 (A118D)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +1 more	GConflicting classifications of pathogenicity
Select item 515603	NM_001378120.1(MBD5):c.354C>T (p.Ala118=)	MBD5	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 503821	NM_001378120.1(MBD5):c.361_362del (p.Pro121fs)	MBD5 (P121fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2429638	NM_001378120.1(MBD5):c.392G>A (p.Gly131Glu)	MBD5 (G131E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 384958	NM_001378120.1(MBD5):c.397+20G>A	MBD5	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1211572	NM_001378120.1(MBD5):c.397+150G>A	MBD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1188689	NM_001378120.1(MBD5):c.397+172T>C	MBD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239382	NM_001378120.1(MBD5):c.398-286C>T	MBD5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186656	NM_001378120.1(MBD5):c.398-22C>A	MBD5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 138173	NM_001378120.1(MBD5):c.398-12C>T	MBD5	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 1 +1 more	GBenign
Select item 432737	NM_001378120.1(MBD5):c.409G>A (p.Val137Ile)	MBD5 (V137I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 586136	NM_001378120.1(MBD5):c.415C>T (p.Pro139Ser)	MBD5 (P139S)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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 267726	NM_001378120.1(MBD5):c.440C>G (p.Ser147Ter)	MBD5 (S147*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2662467	NM_001378120.1(MBD5):c.464G>T (p.Gly155Val)	MBD5 (G155V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 378114	NM_001378120.1(MBD5):c.471A>G (p.Thr157=)	MBD5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 206058	NM_001378120.1(MBD5):c.488A>G (p.Glu163Gly)	MBD5 (E163G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 206059	NM_001378120.1(MBD5):c.520T>A (p.Ser174Thr)	MBD5 (S174T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +1 more	GConflicting classifications of pathogenicity
Select item 2502590	NM_001378120.1(MBD5):c.523T>C (p.Ser175Pro)	MBD5 (S175P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 620331	NM_001378120.1(MBD5):c.546T>G (p.Tyr182Ter)	MBD5 (Y182*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 508918	NM_001378120.1(MBD5):c.558G>T (p.Leu186=)	MBD5	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 516530	NM_001378120.1(MBD5):c.573A>G (p.Gln191=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1 +1 more	GLikely benign
Select item 385747	NM_001378120.1(MBD5):c.588T>C (p.Pro196=)	MBD5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 620346	NM_001378120.1(MBD5):c.601C>T (p.Gln201Ter)	MBD5 (Q201*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 206060	NM_001378120.1(MBD5):c.644G>A (p.Arg215His)	MBD5 (R215H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +2 more	GConflicting classifications of pathogenicity
Select item 261023	NM_001378120.1(MBD5):c.675G>A (p.Ala225=)	MBD5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 388174	NM_001378120.1(MBD5):c.678A>T (p.Ser226=)	MBD5	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 426936	NM_001378120.1(MBD5):c.688C>T (p.Gln230Ter)	MBD5 (Q230*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 199149	NM_001378120.1(MBD5):c.692T>C (p.Ile231Thr)	MBD5 (I231T)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 3364886	NM_001378120.1(MBD5):c.695A>C (p.Tyr232Ser)	MBD5 (Y232S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 440935	NM_001378120.1(MBD5):c.709A>G (p.Ile237Val)	MBD5 (I237V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +2 more	GConflicting classifications of pathogenicity
Select item 206061	NM_001378120.1(MBD5):c.740C>T (p.Pro247Leu)	MBD5 (P247L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571085	NM_001378120.1(MBD5):c.753AAG[1] (p.Arg252del)	MBD5 (R252del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3363961	NM_001378120.1(MBD5):c.782C>T (p.Pro261Leu)	MBD5 (P261L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 199147	NM_001378120.1(MBD5):c.796A>G (p.Ile266Val)	MBD5 (I266V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1703998	NM_001378120.1(MBD5):c.799C>T (p.His267Tyr)	MBD5 (H267Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 431841	NM_001378120.1(MBD5):c.801C>G (p.His267Gln)	MBD5 (H267Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 972297	NM_001378120.1(MBD5):c.805A>T (p.Asn269Tyr)	MBD5 (N269Y)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1 +1 more	GConflicting classifications of pathogenicity
Select item 1803492	NM_001378120.1(MBD5):c.814C>T (p.Pro272Ser)	MBD5 (P272S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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