Related gene-specific medical variations for Gene (Select 55777) - ClinVar

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Links from Gene

Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362683	NM_001378120.1(MBD5):c.829T>G (p.Ser277Ala)	MBD5 (S277A)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 3362168	NM_001378120.1(MBD5):c.1952A>C (p.Gln651Pro)	MBD5 (Q651P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361196	NM_001378120.1(MBD5):c.2126G>T (p.Ser709Ile)	MBD5 (S709I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360339	NM_001378120.1(MBD5):c.308A>C (p.Lys103Thr)	MBD5 (K103T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3062605	GRCh37/hg19 2q23.1(chr2:148901160-148979973)x1	MBD5	Copy number loss	not specified	GPathogenic
Select item 2684775	GRCh37/hg19 2q23.1(chr2:149059294-149118330)x1	MBD5	Copy number loss	not provided	GUncertain significance
Select item 2684764	GRCh37/hg19 2q23.1(chr2:148862629-148922187)x1	MBD5	Copy number loss	not provided	GUncertain significance
Select item 2684753	GRCh37/hg19 2q23.1(chr2:148851964-148954778)x1	MBD5	Copy number loss	not provided	GUncertain significance
Select item 2651403	NM_001378120.1(MBD5):c.-1112_-1111insGTT	ORC4, MBD5	Insertion (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 2651401	NM_001378120.1(MBD5):c.-1114GCTACTGCTGCTGCT[3]	MBD5, ORC4	Microsatellite (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2637444	NM_018328.5:c.(-925+1_-924-1)_(-831+1_-830-1)del	MBD5	Deletion	not specified	GUncertain significance
Select item 2576161	NM_001378120.1(MBD5):c.1855A>G (p.Thr619Ala)	MBD5 (T619A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433662	NM_001378120.1(MBD5):c.4387A>T (p.Arg1463Trp)	MBD5 (R1230W +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2433661	NM_001378120.1(MBD5):c.2414A>T (p.Asn805Ile)	MBD5 (N805I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2433660	NM_001378120.1(MBD5):c.4439T>C (p.Ile1480Thr)	MBD5 (I1247T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2433659	NM_001378120.1(MBD5):c.3718A>G (p.Asn1240Asp)	MBD5 (N1007D +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2433657	NM_001378120.1(MBD5):c.4160A>G (p.His1387Arg)	MBD5 (H1154R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 1810413	NM_018328.4:c.-925+35305_-557+13791del	MBD5	Deletion	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 1809292	GRCh37/hg19 2q23.1(chr2:148893783-149050963)x1	MBD5	Copy number loss	not provided	GUncertain significance
Select item 1809198	GRCh37/hg19 2q23.1(chr2:148954841-149100457)x3	MBD5	Copy number gain	not provided	GUncertain significance
Select item 1809048	GRCh37/hg19 2q23.1(chr2:148825739-148914178)x1	MBD5	Copy number loss	not provided	GUncertain significance
Select item 1808516	GRCh37/hg19 2q23.1(chr2:148932571-148969209)x1	MBD5	Copy number loss	not provided	GUncertain significance
Select item 1808098	GRCh37/hg19 2q23.1(chr2:148820550-148914178)x1	MBD5	Copy number loss	not provided	GUncertain significance
Select item 1807661	GRCh37/hg19 2q23.1(chr2:148995224-149294556)x3	MBD5	Copy number gain	not provided	GUncertain significance
Select item 1807072	NM_001378120.1(MBD5):c.4073C>T (p.Ala1358Val)	MBD5 (A1125V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803048	NM_001378120.1(MBD5):c.1756G>A (p.Ala586Thr)	MBD5 (A586T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GLikely pathogenic
Select item 1676459	NM_018328.5(MBD5):c.1851T>C (p.His617=)	MBD5	Single nucleotide variant	not provided	GUncertain significance
Select item 1526919	GRCh37/hg19 2q23.1(chr2:149201266-149239392)	MBD5	Copy number gain	not specified	GPathogenic
Select item 1526916	GRCh37/hg19 2q23.1(chr2:148897424-148979973)	MBD5	Copy number loss	not specified	GPathogenic
Select item 1526914	GRCh37/hg19 2q23.1(chr2:148894900-148979973)	MBD5	Copy number loss	not specified	GPathogenic
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 1341095	GRCh37/hg19 2q23.1(chr2:148840142-148963444)x1	MBD5	Copy number loss	not provided	GUncertain significance
Select item 1341019	GRCh37/hg19 2q23.1(chr2:148789732-148901245)x1	MBD5	Copy number loss	not provided	GUncertain significance
Select item 1047874	GRCh37/hg19 2q23.1(chr2:149254120-149273345)	MBD5	Copy number loss	Global developmental delay +1 more	GLikely pathogenic
Select item 986900	NM_001378120.1(MBD5):c.254_255del (p.Arg85fs)	MBD5 (R85fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 980596	GRCh37/hg19 2q23.1(chr2:148913951-148963444)x1	MBD5	Copy number loss	not provided	GUncertain significance
Select item 980595	GRCh37/hg19 2q23.1(chr2:149166807-149366862)x3	MBD5	Copy number gain	not provided	GUncertain significance
Select item 975285	NM_001378120.1(MBD5):c.998C>A (p.Pro333His)	MBD5 (P333H)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 975284	NM_001378120.1(MBD5):c.323C>T (p.Ala108Val)	MBD5 (A108V)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 973599	GRCh37/hg19 2q23.1(chr2:149093832-149198502)x1	MBD5	Copy number loss	Intellectual disability	GUncertain significance
Select item 931316	NM_001378120.1(MBD5):c.830C>G (p.Ser277Ter)	MBD5 (S277*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal dominant 1	GLikely pathogenic
Select item 930565	NM_001378120.1(MBD5):c.4333T>G (p.Tyr1445Asp)	MBD5 (Y1445D +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 814322	GRCh37/hg19 2q23.1(chr2:148938816-149039696)x1	MBD5	Copy number loss	not provided	GUncertain significance
Select item 814321	GRCh37/hg19 2q23.1(chr2:148883626-149209179)x1	MBD5	Copy number loss	not provided	GPathogenic
Select item 814320	GRCh37/hg19 2q23.1(chr2:148826079-148959158)x1	MBD5	Copy number loss	not provided	GUncertain significance
Select item 814319	GRCh37/hg19 2q23.1(chr2:148815797-148859188)x1	MBD5	Copy number loss	not provided	GUncertain significance
Select item 814318	GRCh37/hg19 2q23.1(chr2:148789732-148965615)x1	MBD5	Copy number loss	not provided	GLikely pathogenic
Select item 686375	GRCh37/hg19 2q23.1(chr2:148781910-148929896)x1	MBD5	Copy number loss	not provided	GUncertain significance
Select item 635919	Single allele	MBD5	Deletion	Neurodevelopmental disorder	GLikely pathogenic
Select item 562537	GRCh37/hg19 2q23.1(chr2:148815797-148997388)x3	MBD5	Copy number gain	not provided	GLikely pathogenic
Select item 562501	GRCh37/hg19 2q23.1(chr2:148851963-148929896)x1	MBD5	Copy number loss	not provided	GUncertain significance
Select item 562499	GRCh37/hg19 2q23.1(chr2:149094014-149166807)x1	MBD5	Copy number loss	not provided	GPathogenic
Select item 562479	GRCh37/hg19 2q23.1(chr2:148984799-149022674)x1	MBD5	Copy number loss	not provided	GPathogenic
Select item 560712	NM_001378120.1(MBD5):c.1249_1263del (p.Met417_Ser421del)	MBD5	Deletion (inframe_deletion)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 549480	NM_001378120.1(MBD5):c.431C>T (p.Thr144Ile)	MBD5 (T144I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 548982	GRCh37/hg19 2q23.1(chr2:148942537-149035397)x1	MBD5	Copy number loss	See cases	GLikely pathogenic
Select item 545249	NC_000002.12:g.(?_148158424)_(148226279_?)del	MBD5	Deletion	Schizophrenia	GPathogenic
Select item 545248	NC_000002.12:g.(?_148157591)_(148226058_?)del	MBD5	Deletion	Autism +1 more	GPathogenic
Select item 545247	NC_000002.12:g.(?_148139385)_(148242336_?)del	MBD5	Deletion	Schizophrenia	GPathogenic
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 493285	NM_001378120.1(MBD5):c.4975A>T (p.Lys1659Ter)	MBD5 (K1426* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 443679	GRCh37/hg19 2q23.1(chr2:148815797-149201267)x3	MBD5	Copy number gain	See cases	GLikely benign
Select item 443495	GRCh37/hg19 2q23.1(chr2:148859098-148990429)x1	MBD5	Copy number loss	See cases	GUncertain significance
Select item 441777	GRCh37/hg19 2q23.1(chr2:148938816-149039696)x1	MBD5	Copy number loss	See cases	GUncertain significance
Select item 403690	Single allele	ACVR2A, MBD5 +1 more	Deletion	MBD5 associated neurodevelopmental disorder	GPathogenic
Select item 403687	Single allele	ACVR2A, MBD5 +1 more	Deletion	MBD5 associated neurodevelopmental disorder	GPathogenic
Select item 403686	Single allele	ACVR2A, MBD5 +1 more	Deletion	MBD5 associated neurodevelopmental disorder	GPathogenic
Select item 394494	GRCh37/hg19 2q23.1(chr2:148957572-149100105)x1	MBD5	Copy number loss	See cases	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 381112	NM_018328.5(MBD5):c.-962+16C>T	ORC4, MBD5	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 253335	GRCh37/hg19 2q23.1(chr2:148957572-149027461)x1	MBD5	Copy number loss	See cases	GLikely pathogenic
Select item 226141	GRCh37/hg19 2q23.1(chr2:149089645-149192958)	MBD5	Copy number loss	Abnormal esophagus morphology	GLikely benign
Select item 149709	GRCh38/hg38 2q23.1(chr2:148177218-148220153)x1	MBD5	Copy number loss	See cases	GLikely pathogenic
Select item 100871	NM_001378120.1(MBD5):c.904A>G (p.Thr302Ala)	MBD5 (T302A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 60718	MBD5, THR157GLNFSTER4	MBD5	Variation	Intellectual disability, autosomal dominant 1	GPathogenic
Select item 921	NG_017003.3:g.262835_474705del	MBD5	Deletion	Intellectual disability, autosomal dominant 1	GPathogenic

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Links from Gene

Items: 77