ClinVar for MedGen (Select 409857) - ClinVar - NCBI

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	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 3359097	NM_020791.4(TAOK1):c.518C>T (p.Ala173Val)	TAOK1 (A173V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 3358946	NM_001386298.1(CIC):c.5903-1G>A	CIC	Single nucleotide variant (splice acceptor variant)	Intellectual disability, autosomal dominant 45 +1 more	GLikely pathogenic
Select item 3237206	GRCh38/hg38 2q23.1(chr2:148198092-148263296)x1	LOC126806367, MBD5	Copy number loss	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 3235983	NM_001378120.1(MBD5):c.346dup (p.Met116fs)	MBD5 (M116fs)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 1	GLikely pathogenic
Select item 3233313	NM_001370100.5(ZMYND11):c.950G>A (p.Arg317Lys)	ZMYND11 (R160K +14 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 3021171	NM_001378120.1(MBD5):c.2045A>G (p.Lys682Arg)	MBD5 (K682R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 3019435	NM_001378120.1(MBD5):c.3617A>G (p.Asn1206Ser)	MBD5 (N973S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 3018037	NM_001378120.1(MBD5):c.754A>G (p.Arg252Gly)	MBD5 (R252G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 3017486	NM_001378120.1(MBD5):c.1603A>G (p.Thr535Ala)	MBD5 (T535A)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 3017387	NM_001378120.1(MBD5):c.3753+11C>A	MBD5	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 3012587	NM_001378120.1(MBD5):c.695A>G (p.Tyr232Cys)	MBD5 (Y232C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 3008664	NM_001378120.1(MBD5):c.2015A>G (p.Gln672Arg)	MBD5 (Q672R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 3007052	NM_001378120.1(MBD5):c.1115A>G (p.Asn372Ser)	MBD5 (N372S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 3006453	NM_001378120.1(MBD5):c.1811A>G (p.Asn604Ser)	MBD5 (N604S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 3005271	NM_001378120.1(MBD5):c.1093C>G (p.Pro365Ala)	MBD5 (P365A)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 3005051	NM_001378120.1(MBD5):c.2617A>G (p.Thr873Ala)	MBD5 (T873A)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 3004520	NM_001378120.1(MBD5):c.2373G>C (p.Gly791=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 3001837	NM_001378120.1(MBD5):c.1507T>A (p.Ser503Thr)	MBD5 (S503T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2998203	NM_001378120.1(MBD5):c.3677A>G (p.Gln1226Arg)	MBD5 (Q1226R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2993588	NM_001378120.1(MBD5):c.3555A>G (p.Ser1185=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 2988813	NM_001378120.1(MBD5):c.4293C>G (p.Asp1431Glu)	MBD5 (D1431E +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2988085	NM_001378120.1(MBD5):c.5086A>G (p.Ser1696Gly)	MBD5 (S1696G +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2987107	NM_001378120.1(MBD5):c.2518+6G>A	MBD5	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2986165	NM_001378120.1(MBD5):c.2439G>A (p.Gln813=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 2979495	NM_001378120.1(MBD5):c.543A>G (p.Leu181=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 2979477	NM_001378120.1(MBD5):c.516T>C (p.Ile172=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 2978967	NM_001378120.1(MBD5):c.1318A>G (p.Thr440Ala)	MBD5 (T440A)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2978486	NM_001378120.1(MBD5):c.2752C>T (p.Leu918Phe)	MBD5 (L918F)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2971445	NM_001378120.1(MBD5):c.3894A>C (p.Pro1298=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 2970594	NM_001378120.1(MBD5):c.2234A>G (p.Asn745Ser)	MBD5 (N745S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2970077	NM_001378120.1(MBD5):c.3931G>T (p.Gly1311Cys)	MBD5 (G1078C +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2969157	NM_001378120.1(MBD5):c.1369C>T (p.Pro457Ser)	MBD5 (P457S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2964847	NM_001378120.1(MBD5):c.4142A>G (p.Asn1381Ser)	MBD5 (N1381S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
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 2963718	NM_001378120.1(MBD5):c.398-11T>C	MBD5	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 2957149	NM_001378120.1(MBD5):c.1223C>T (p.Pro408Leu)	MBD5 (P408L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2956972	NM_001378120.1(MBD5):c.1185C>T (p.Ser395=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 2916796	NM_001378120.1(MBD5):c.4071T>A (p.Ser1357Arg)	MBD5 (S1124R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2916011	NM_001378120.1(MBD5):c.3754-20T>C	MBD5	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 2915593	NM_001378120.1(MBD5):c.4317G>T (p.Glu1439Asp)	MBD5 (E1206D +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2915080	NM_001378120.1(MBD5):c.4087A>G (p.Ile1363Val)	MBD5 (I1363V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2915073	NM_001378120.1(MBD5):c.398-5A>G	MBD5	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 2915031	NM_001378120.1(MBD5):c.1772A>G (p.Gln591Arg)	MBD5 (Q591R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2913692	NM_001378120.1(MBD5):c.4141A>G (p.Asn1381Asp)	MBD5 (N1381D +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2913278	NM_001378120.1(MBD5):c.1503G>A (p.Arg501=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 2913277	NM_001378120.1(MBD5):c.1344T>C (p.Thr448=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 2912805	NM_001378120.1(MBD5):c.4265G>A (p.Ser1422Asn)	MBD5 (S1189N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2904977	NM_001378120.1(MBD5):c.4521G>T (p.Met1507Ile)	MBD5 (M1507I +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2903416	NM_001378120.1(MBD5):c.1877C>T (p.Pro626Leu)	MBD5 (P626L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2899526	NM_001378120.1(MBD5):c.774T>C (p.His258=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1	GLikely benign
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 2892761	NM_001378120.1(MBD5):c.4691A>G (p.Lys1564Arg)	MBD5 (K1564R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2892690	NM_001378120.1(MBD5):c.398-3C>T	MBD5	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2892299	NM_001378120.1(MBD5):c.2252A>G (p.Asn751Ser)	MBD5 (N751S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2890434	NM_001378120.1(MBD5):c.524C>T (p.Ser175Leu)	MBD5 (S175L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2889661	NM_001378120.1(MBD5):c.4644G>A (p.Glu1548=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 2889660	NM_001378120.1(MBD5):c.1966T>C (p.Leu656=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 2889142	NM_001378120.1(MBD5):c.3761T>G (p.Met1254Arg)	MBD5 (M1021R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2884640	NM_001378120.1(MBD5):c.82C>T (p.Arg28Cys)	MBD5 (R28C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2883517	NM_001378120.1(MBD5):c.1544A>G (p.His515Arg)	MBD5 (H515R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2882639	NM_001378120.1(MBD5):c.1867A>G (p.Met623Val)	MBD5 (M623V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2882226	NM_001378120.1(MBD5):c.5149C>T (p.Pro1717Ser)	MBD5 (P1484S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2874905	NM_001378120.1(MBD5):c.3902G>A (p.Gly1301Asp)	MBD5 (G1301D +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2874580	NM_001378120.1(MBD5):c.4094A>G (p.Asp1365Gly)	MBD5 (D1132G +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2873090	NM_001378120.1(MBD5):c.1773A>G (p.Gln591=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 2871953	NM_001378120.1(MBD5):c.1961A>G (p.Asp654Gly)	MBD5 (D654G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2870238	NM_001378120.1(MBD5):c.1365A>G (p.Ala455=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 2868330	NM_001378120.1(MBD5):c.5109G>A (p.Gly1703=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 2868267	NM_001378120.1(MBD5):c.4296G>A (p.Gly1432=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 2864426	NM_001378120.1(MBD5):c.4275A>C (p.Thr1425=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 2863733	NM_001378120.1(MBD5):c.1278T>C (p.Val426=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 2862105	NM_001378120.1(MBD5):c.4116T>C (p.Ala1372=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 2860942	NM_001378120.1(MBD5):c.4002G>A (p.Gln1334=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 2859770	NM_001378120.1(MBD5):c.4520T>C (p.Met1507Thr)	MBD5 (M1274T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2858306	NM_001378120.1(MBD5):c.1927G>T (p.Ala643Ser)	MBD5 (A643S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2857886	NM_001378120.1(MBD5):c.4669A>G (p.Ser1557Gly)	MBD5 (S1324G +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2857706	NM_001378120.1(MBD5):c.4654C>T (p.Pro1552Ser)	MBD5 (P1319S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2857064	NM_001378120.1(MBD5):c.3935_3936delinsTT (p.Gly1312Val)	MBD5 (G1312V +1 more)	Indel (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2856268	NM_001378120.1(MBD5):c.4219A>G (p.Lys1407Glu)	MBD5 (K1174E +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2855209	NM_001378120.1(MBD5):c.3726_3729dup (p.Ala1244fs)	MBD5 (A1011fs +1 more)	Duplication (frameshift variant)	Intellectual disability, autosomal dominant 1	GPathogenic
Select item 2853662	NM_001378120.1(MBD5):c.788C>G (p.Ser263Cys)	MBD5 (S263C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2852720	NM_001378120.1(MBD5):c.440C>T (p.Ser147Leu)	MBD5 (S147L)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2852031	NM_001378120.1(MBD5):c.2728C>G (p.Leu910Val)	MBD5 (L910V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2851186	NM_001378120.1(MBD5):c.826C>G (p.Pro276Ala)	MBD5 (P276A)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2851045	NM_001378120.1(MBD5):c.4293C>T (p.Asp1431=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 2850766	NM_001378120.1(MBD5):c.4848C>G (p.Phe1616Leu)	MBD5 (F1383L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2850741	NM_001378120.1(MBD5):c.1168C>T (p.Pro390Ser)	MBD5 (P390S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2850737	NM_001378120.1(MBD5):c.4991C>G (p.Thr1664Arg)	MBD5 (T1431R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2849164	NM_001378120.1(MBD5):c.1053A>G (p.Leu351=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 2847889	NM_001378120.1(MBD5):c.4704T>A (p.His1568Gln)	MBD5 (H1568Q +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2847790	NM_001378120.1(MBD5):c.2750G>C (p.Ser917Thr)	MBD5 (S917T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2847141	NM_001378120.1(MBD5):c.923C>A (p.Pro308Gln)	MBD5 (P308Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2845772	NM_001378120.1(MBD5):c.3692A>C (p.Gln1231Pro)	MBD5 (Q998P +1 more)	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 2843048	NM_001378120.1(MBD5):c.4387A>G (p.Arg1463Gly)	MBD5 (R1463G +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2840579	NM_001378120.1(MBD5):c.1677A>G (p.Gly559=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1	GLikely benign
Select item 2839690	NM_001378120.1(MBD5):c.4618A>T (p.Thr1540Ser)	MBD5 (T1307S +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GUncertain significance
Select item 2839682	NM_001378120.1(MBD5):c.4890T>C (p.Thr1630=)	MBD5	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 1	GLikely benign

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