C1969562[trait identifier] AND "Invitae"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 583570	NC_000002.11:g.(?_149216308)_(149270530_?)dup	MBD5	Duplication	Intellectual disability, autosomal dominant 1	GUncertain significance
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 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)	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)	not provided +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 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 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)	not specified +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 198228	NM_001378120.1(MBD5):c.69G>A (p.Val23=)	MBD5	Single nucleotide variant (synonymous variant)	MBD5-related condition +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 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 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	GUncertain significance
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 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 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 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 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 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 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 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 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
Select item 387500	NM_001378120.1(MBD5):c.216+15A>G	MBD5	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
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 1502101	NM_001378120.1(MBD5):c.224A>G (p.Asn75Ser)	MBD5 (N75S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2844126	NM_001378120.1(MBD5):c.236G>T (p.Gly79Val)	MBD5 (G79V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 198891	NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu)	MBD5 (G79E)	Single nucleotide variant (missense variant)	MBD5-related condition +4 more	GBenign/Likely benign
Select item 2131495	NM_001378120.1(MBD5):c.244G>T (p.Val82Leu)	MBD5 (V82L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 566254	NM_001378120.1(MBD5):c.247A>G (p.Lys83Glu)	MBD5 (K83E)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2017862	NM_001378120.1(MBD5):c.253A>C (p.Arg85=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 283003	NM_001378120.1(MBD5):c.258C>T (p.Thr86=)	MBD5	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1429501	NM_001378120.1(MBD5):c.259G>A (p.Ala87Thr)	MBD5 (A87T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 702589	NM_001378120.1(MBD5):c.264A>G (p.Glu88=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1	GLikely 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 536666	NM_001378120.1(MBD5):c.268G>A (p.Val90Ile)	MBD5 (V90I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 331331	NM_001378120.1(MBD5):c.274G>A (p.Ala92Thr)	MBD5 (A92T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 447708	NM_001378120.1(MBD5):c.276A>G (p.Ala92=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1 +2 more	GConflicting classifications of pathogenicity
Select item 1375031	NM_001378120.1(MBD5):c.290C>T (p.Thr97Ile)	MBD5 (T97I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 138172	NM_001378120.1(MBD5):c.297A>G (p.Leu99=)	MBD5	Single nucleotide variant (synonymous variant)	MBD5-related condition +4 more	GBenign
Select item 566765	NM_001378120.1(MBD5):c.302T>C (p.Ile101Thr)	MBD5 (I101T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2779145	NM_001378120.1(MBD5):c.308A>G (p.Lys103Arg)	MBD5 (K103R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 468780	NM_001378120.1(MBD5):c.321T>G (p.Ile107Met)	MBD5 (I107M)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 382529	NM_001378120.1(MBD5):c.327G>A (p.Val109=)	MBD5	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1010646	NM_001378120.1(MBD5):c.332C>T (p.Thr111Ile)	MBD5 (T111I)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 2789823	NM_001378120.1(MBD5):c.337C>A (p.His113Asn)	MBD5 (H113N)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2693601	NM_001378120.1(MBD5):c.337C>T (p.His113Tyr)	MBD5 (H113Y)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 1040069	NM_001378120.1(MBD5):c.353C>A (p.Ala118Asp)	MBD5 (A118D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2734281	NM_001378120.1(MBD5):c.365C>T (p.Ser122Phe)	MBD5 (S122F)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 1009459	NM_001378120.1(MBD5):c.370G>C (p.Val124Leu)	MBD5 (V124L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 1379371	NM_001378120.1(MBD5):c.379A>C (p.Ser127Arg)	MBD5 (S127R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 536672	NM_001378120.1(MBD5):c.379del (p.Ser127fs)	MBD5 (S127fs)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 1	GPathogenic
Select item 536681	NM_001378120.1(MBD5):c.384C>T (p.Pro128=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 643400	NM_001378120.1(MBD5):c.385G>A (p.Gly129Arg)	MBD5 (G129R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 847428	NM_001378120.1(MBD5):c.394A>G (p.Thr132Ala)	MBD5 (T132A)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 860405	NM_001378120.1(MBD5):c.396A>G (p.Thr132=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1	GBenign
Select item 536667	NM_001378120.1(MBD5):c.397+1G>A	MBD5	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal dominant 1 +1 more	GPathogenic
Select item 1804006	NM_001378120.1(MBD5):c.397+2T>C	MBD5	Single nucleotide variant (splice donor variant)	Intellectual disability, autosomal dominant 1	GPathogenic
Select item 2428094	NM_001378120.1(MBD5):c.397+8A>G	MBD5	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 1649327	NM_001378120.1(MBD5):c.397+10A>T	MBD5	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 1648651	NM_001378120.1(MBD5):c.397+14T>G	MBD5	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 384958	NM_001378120.1(MBD5):c.397+20G>A	MBD5	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 1 +1 more	GLikely benign
Select item 2065105	NM_001378120.1(MBD5):c.398-18T>C	MBD5	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 138173	NM_001378120.1(MBD5):c.398-12C>T	MBD5	Single nucleotide variant (intron variant)	not specified +1 more	GBenign

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