ClinVar for MedGen (Select 409857) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26277401.	NM_001378120.1(MBD5):c.4946del (p.Ser1649fs) GRCh37: Chr2:149248147 GRCh38: Chr2:148490578	MBD5	S1416fs, S1649fs	Intellectual disability, autosomal dominant 1	Pathogenic (Nov 19, 2020)	no assertion criteria provided
Select item 25850062.	NM_001378120.1(MBD5):c.316_319dup (p.Ile107fs) GRCh37: Chr2:149221405-149221406 GRCh38: Chr2:148463836-148463837	MBD5	I107fs	Intellectual disability, autosomal dominant 1	Likely pathogenic	criteria provided, single submitter
Select item 25846643.	NM_004933.3(CDH15):c.160G>T (p.Val54Leu) GRCh37: Chr16:89245941 GRCh38: Chr16:89179533	CDH15	V54L	Intellectual disability, autosomal dominant 1	Uncertain significance	criteria provided, single submitter
Select item 25065564.	GRCh37/hg19 2q23.1(chr2:149220152-149633312) GRCh37: Chr2:149220152-149633312	EPC2, MBD5		Intellectual disability, autosomal dominant 1	Likely pathogenic (May 26, 2023)	criteria provided, single submitter
Select item 24336635.	NM_001378120.1(MBD5):c.2305G>A (p.Val769Ile) GRCh37: Chr2:149227817 GRCh38: Chr2:148470248	MBD5	V769I	MBD5-related condition, Intellectual disability, autosomal dominant 1	Uncertain significance (Jan 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 24336626.	NM_001378120.1(MBD5):c.4387A>T (p.Arg1463Trp) GRCh37: Chr2:149247588 GRCh38: Chr2:148490019	MBD5	R1230W, R1463W	Intellectual disability, autosomal dominant 1	Uncertain significance (Aug 26, 2019)	criteria provided, single submitter
Select item 24336617.	NM_001378120.1(MBD5):c.2414A>T (p.Asn805Ile) GRCh37: Chr2:149227926 GRCh38: Chr2:148470357	MBD5	N805I	Intellectual disability, autosomal dominant 1	Uncertain significance (Jun 17, 2019)	criteria provided, single submitter
Select item 24336608.	NM_001378120.1(MBD5):c.4439T>C (p.Ile1480Thr) GRCh37: Chr2:149247640 GRCh38: Chr2:148490071	MBD5	I1247T, I1480T	Intellectual disability, autosomal dominant 1	Uncertain significance (Feb 2, 2021)	criteria provided, single submitter
Select item 24336599.	NM_001378120.1(MBD5):c.3718A>G (p.Asn1240Asp) GRCh37: Chr2:149243484 GRCh38: Chr2:148485915	MBD5	N1007D, N1240D	Intellectual disability, autosomal dominant 1	Uncertain significance (Nov 9, 2020)	criteria provided, single submitter
Select item 243365710.	NM_001378120.1(MBD5):c.4160A>G (p.His1387Arg) GRCh37: Chr2:149247361 GRCh38: Chr2:148489792	MBD5	H1154R, H1387R	Intellectual disability, autosomal dominant 1	Uncertain significance (Oct 24, 2019)	criteria provided, single submitter
Select item 242809411.	NM_001378120.1(MBD5):c.397+8A>G GRCh37: Chr2:149221496 GRCh38: Chr2:148463927	MBD5		Intellectual disability, autosomal dominant 1	Likely benign (Jun 4, 2022)	criteria provided, single submitter
Select item 242646112.	NC_000002.11:g.(?_149216328)_(149221508_?)dup GRCh37: Chr2:149216328-149221508	MBD5		Intellectual disability, autosomal dominant 1	Pathogenic (Feb 19, 2022)	criteria provided, single submitter
Select item 241741913.	NM_001378120.1(MBD5):c.3714T>C (p.Ala1238=) GRCh37: Chr2:149243480 GRCh38: Chr2:148485911	MBD5		Intellectual disability, autosomal dominant 1	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 241512714.	NM_001378120.1(MBD5):c.3719A>G (p.Asn1240Ser) GRCh37: Chr2:149243485 GRCh38: Chr2:148485916	MBD5	N1007S, N1240S	Intellectual disability, autosomal dominant 1	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 241505515.	NM_001378120.1(MBD5):c.5154dup (p.Lys1719fs) GRCh37: Chr2:149270474-149270475 GRCh38: Chr2:148512905-148512906	MBD5	K1486fs, K1719fs	Intellectual disability, autosomal dominant 1	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 241459916.	NM_001378120.1(MBD5):c.4651T>C (p.Ser1551Pro) GRCh37: Chr2:149247852 GRCh38: Chr2:148490283	MBD5	S1318P, S1551P	Intellectual disability, autosomal dominant 1	Uncertain significance (Jun 25, 2022)	criteria provided, single submitter
Select item 220297617.	NM_001378120.1(MBD5):c.2859C>A (p.Ile953=) GRCh37: Chr2:149241019 GRCh38: Chr2:148483450	MBD5		Intellectual disability, autosomal dominant 1	Benign (Mar 1, 2022)	criteria provided, single submitter
Select item 219878918.	NM_001378120.1(MBD5):c.2824C>T (p.Leu942Phe) GRCh37: Chr2:149240984 GRCh38: Chr2:148483415	MBD5	L942F	Intellectual disability, autosomal dominant 1	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 219878819.	NM_001378120.1(MBD5):c.1963G>T (p.Ala655Ser) GRCh37: Chr2:149227475 GRCh38: Chr2:148469906	MBD5	A655S	Intellectual disability, autosomal dominant 1	Uncertain significance (Oct 30, 2022)	criteria provided, single submitter
Select item 219763720.	NM_001378120.1(MBD5):c.4483G>A (p.Glu1495Lys) GRCh37: Chr2:149247684 GRCh38: Chr2:148490115	MBD5	E1262K, E1495K	Intellectual disability, autosomal dominant 1	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 219509421.	NM_001378120.1(MBD5):c.1356G>A (p.Arg452=) GRCh37: Chr2:149226868 GRCh38: Chr2:148469299	MBD5		Intellectual disability, autosomal dominant 1	Likely benign (Apr 20, 2022)	criteria provided, single submitter
Select item 219344522.	NM_001378120.1(MBD5):c.1637C>A (p.Ala546Asp) GRCh37: Chr2:149227149 GRCh38: Chr2:148469580	MBD5	A546D	Intellectual disability, autosomal dominant 1	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 219336323.	NM_001378120.1(MBD5):c.4471A>G (p.Lys1491Glu) GRCh37: Chr2:149247672 GRCh38: Chr2:148490103	MBD5	K1258E, K1491E	Inborn genetic diseases, Intellectual disability, autosomal dominant 1	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 219152524.	NM_001378120.1(MBD5):c.623A>G (p.His208Arg) GRCh37: Chr2:149226135 GRCh38: Chr2:148468566	MBD5	H208R	Intellectual disability, autosomal dominant 1	Uncertain significance (Jun 26, 2022)	criteria provided, single submitter
Select item 219044625.	NM_001378120.1(MBD5):c.4878C>T (p.Ile1626=) GRCh37: Chr2:149248079 GRCh38: Chr2:148490510	MBD5		Intellectual disability, autosomal dominant 1	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 219032826.	NM_001378120.1(MBD5):c.18G>A (p.Glu6=) GRCh37: Chr2:149216345 GRCh38: Chr2:148458776	MBD5		Intellectual disability, autosomal dominant 1	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 218910427.	NM_001378120.1(MBD5):c.603G>A (p.Gln201=) GRCh37: Chr2:149226115 GRCh38: Chr2:148468546	MBD5		Intellectual disability, autosomal dominant 1	Likely benign (Mar 31, 2022)	criteria provided, single submitter
Select item 218910328.	NM_001378120.1(MBD5):c.443T>C (p.Val148Ala) GRCh37: Chr2:149225955 GRCh38: Chr2:148468386	MBD5	V148A	Intellectual disability, autosomal dominant 1	Uncertain significance (Jun 3, 2022)	criteria provided, single submitter
Select item 218772729.	NM_001378120.1(MBD5):c.1041G>A (p.Gln347=) GRCh37: Chr2:149226553 GRCh38: Chr2:148468984	MBD5		Intellectual disability, autosomal dominant 1	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 218578530.	NM_001378120.1(MBD5):c.5049A>C (p.Leu1683=) GRCh37: Chr2:149267641 GRCh38: Chr2:148510072	MBD5		Intellectual disability, autosomal dominant 1	Likely benign (Apr 23, 2022)	criteria provided, single submitter
Select item 218550831.	NM_001378120.1(MBD5):c.2038G>T (p.Val680Phe) GRCh37: Chr2:149227550 GRCh38: Chr2:148469981	MBD5	V680F	Intellectual disability, autosomal dominant 1	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 217781732.	NM_001378120.1(MBD5):c.540G>C (p.Arg180Ser) GRCh37: Chr2:149226052 GRCh38: Chr2:148468483	MBD5	R180S	Intellectual disability, autosomal dominant 1	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 216680033.	NM_001378120.1(MBD5):c.2519-10T>C GRCh37: Chr2:149240669 GRCh38: Chr2:148483100	MBD5		Intellectual disability, autosomal dominant 1	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 216354934.	NM_001378120.1(MBD5):c.1150A>G (p.Asn384Asp) GRCh37: Chr2:149226662 GRCh38: Chr2:148469093	MBD5	N384D	Intellectual disability, autosomal dominant 1	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 216113935.	NM_001378120.1(MBD5):c.651C>G (p.Ser217Arg) GRCh37: Chr2:149226163 GRCh38: Chr2:148468594	MBD5	S217R	Intellectual disability, autosomal dominant 1	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 216080436.	NM_001378120.1(MBD5):c.4230C>T (p.Asn1410=) GRCh37: Chr2:149247431 GRCh38: Chr2:148489862	MBD5		Intellectual disability, autosomal dominant 1	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 215978237.	NM_001378120.1(MBD5):c.2147G>A (p.Ser716Asn) GRCh37: Chr2:149227659 GRCh38: Chr2:148470090	MBD5	S716N	Intellectual disability, autosomal dominant 1	Uncertain significance (Sep 29, 2022)	criteria provided, single submitter
Select item 215730438.	NM_001378120.1(MBD5):c.1975A>G (p.Arg659Gly) GRCh37: Chr2:149227487 GRCh38: Chr2:148469918	MBD5	R659G	Intellectual disability, autosomal dominant 1	Uncertain significance (Mar 31, 2022)	criteria provided, single submitter
Select item 215380839.	NM_001378120.1(MBD5):c.1255C>T (p.His419Tyr) GRCh37: Chr2:149226767 GRCh38: Chr2:148469198	MBD5	H419Y	Intellectual disability, autosomal dominant 1	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 215309340.	NM_001378120.1(MBD5):c.577G>C (p.Glu193Gln) GRCh37: Chr2:149226089 GRCh38: Chr2:148468520	MBD5	E193Q	Intellectual disability, autosomal dominant 1	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 215296641.	NM_001378120.1(MBD5):c.5113-18C>T GRCh37: Chr2:149270421 GRCh38: Chr2:148512852	MBD5		Intellectual disability, autosomal dominant 1	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 214573542.	NM_001378120.1(MBD5):c.2686C>A (p.His896Asn) GRCh37: Chr2:149240846 GRCh38: Chr2:148483277	MBD5	H896N	Intellectual disability, autosomal dominant 1	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 213820243.	NM_001378120.1(MBD5):c.3917A>T (p.Asp1306Val) GRCh37: Chr2:149247118 GRCh38: Chr2:148489549	MBD5	D1073V, D1306V	Intellectual disability, autosomal dominant 1	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 213723644.	NM_001378120.1(MBD5):c.114-20T>G GRCh37: Chr2:149220131 GRCh38: Chr2:148462562	MBD5		Intellectual disability, autosomal dominant 1	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 213519545.	NM_001378120.1(MBD5):c.2268G>A (p.Gly756=) GRCh37: Chr2:149227780 GRCh38: Chr2:148470211	MBD5		Intellectual disability, autosomal dominant 1	Likely benign (May 7, 2022)	criteria provided, single submitter
Select item 213508146.	NM_001378120.1(MBD5):c.2546C>T (p.Ala849Val) GRCh37: Chr2:149240706 GRCh38: Chr2:148483137	MBD5	A849V	Intellectual disability, autosomal dominant 1	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 213319547.	NM_001378120.1(MBD5):c.113+8C>T GRCh37: Chr2:149216448 GRCh38: Chr2:148458879	MBD5		Intellectual disability, autosomal dominant 1	Likely benign (Sep 5, 2022)	criteria provided, single submitter
Select item 213216748.	NM_001378120.1(MBD5):c.1151A>G (p.Asn384Ser) GRCh37: Chr2:149226663 GRCh38: Chr2:148469094	MBD5	N384S	Intellectual disability, autosomal dominant 1	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 213168349.	NM_001378120.1(MBD5):c.2527G>A (p.Gly843Arg) GRCh37: Chr2:149240687 GRCh38: Chr2:148483118	MBD5	G843R	Intellectual disability, autosomal dominant 1	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 213149550.	NM_001378120.1(MBD5):c.244G>T (p.Val82Leu) GRCh37: Chr2:149221335 GRCh38: Chr2:148463766	MBD5	V82L	Intellectual disability, autosomal dominant 1	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 212923251.	NM_001378120.1(MBD5):c.3974T>A (p.Val1325Asp) GRCh37: Chr2:149247175 GRCh38: Chr2:148489606	MBD5	V1325D, V1092D	Intellectual disability, autosomal dominant 1	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 212815352.	NM_001378120.1(MBD5):c.416C>G (p.Pro139Arg) GRCh37: Chr2:149225928 GRCh38: Chr2:148468359	MBD5	P139R	Intellectual disability, autosomal dominant 1	Uncertain significance (Nov 3, 2022)	criteria provided, single submitter
Select item 212803153.	NM_001378120.1(MBD5):c.1240C>A (p.Pro414Thr) GRCh37: Chr2:149226752 GRCh38: Chr2:148469183	MBD5	P414T	Intellectual disability, autosomal dominant 1	Uncertain significance (May 13, 2022)	criteria provided, single submitter
Select item 212499854.	NM_001378120.1(MBD5):c.1697T>G (p.Leu566Trp) GRCh37: Chr2:149227209 GRCh38: Chr2:148469640	MBD5	L566W	Intellectual disability, autosomal dominant 1	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 212421155.	NM_001378120.1(MBD5):c.2646G>A (p.Gln882=) GRCh37: Chr2:149240806 GRCh38: Chr2:148483237	MBD5		Intellectual disability, autosomal dominant 1	Likely benign (Apr 10, 2022)	criteria provided, single submitter
Select item 212388956.	NM_001378120.1(MBD5):c.1042A>G (p.Lys348Glu) GRCh37: Chr2:149226554 GRCh38: Chr2:148468985	MBD5	K348E	Intellectual disability, autosomal dominant 1	Uncertain significance (Apr 9, 2022)	criteria provided, single submitter
Select item 211949057.	NM_001378120.1(MBD5):c.2596C>G (p.Gln866Glu) GRCh37: Chr2:149240756 GRCh38: Chr2:148483187	MBD5	Q866E	Intellectual disability, autosomal dominant 1	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 211881858.	NM_001378120.1(MBD5):c.4372A>G (p.Ser1458Gly) GRCh37: Chr2:149247573 GRCh38: Chr2:148490004	MBD5	S1225G, S1458G	Intellectual disability, autosomal dominant 1	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 211761259.	NM_001378120.1(MBD5):c.2839G>A (p.Gly947Arg) GRCh37: Chr2:149240999 GRCh38: Chr2:148483430	MBD5	G947R	Intellectual disability, autosomal dominant 1	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 211735260.	NM_001378120.1(MBD5):c.2738C>T (p.Pro913Leu) GRCh37: Chr2:149240898 GRCh38: Chr2:148483329	MBD5	P913L	Intellectual disability, autosomal dominant 1	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 210679261.	NM_001378120.1(MBD5):c.2003G>A (p.Ser668Asn) GRCh37: Chr2:149227515 GRCh38: Chr2:148469946	MBD5	S668N	Intellectual disability, autosomal dominant 1	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 210389462.	NM_001378120.1(MBD5):c.4868G>A (p.Trp1623Ter) GRCh37: Chr2:149248069 GRCh38: Chr2:148490500	MBD5	W1390, W1623	Intellectual disability, autosomal dominant 1	Pathogenic (Feb 27, 2022)	criteria provided, single submitter
Select item 210125363.	NM_001378120.1(MBD5):c.629A>G (p.Gln210Arg) GRCh37: Chr2:149226141 GRCh38: Chr2:148468572	MBD5	Q210R	Intellectual disability, autosomal dominant 1	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 209998764.	NM_001378120.1(MBD5):c.1453G>A (p.Gly485Ser) GRCh37: Chr2:149226965 GRCh38: Chr2:148469396	MBD5	G485S	Intellectual disability, autosomal dominant 1	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 209863565.	NM_001378120.1(MBD5):c.4880A>G (p.Lys1627Arg) GRCh37: Chr2:149248081 GRCh38: Chr2:148490512	MBD5	K1394R, K1627R	Intellectual disability, autosomal dominant 1	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 209784466.	NM_001378120.1(MBD5):c.1250T>G (p.Met417Arg) GRCh37: Chr2:149226762 GRCh38: Chr2:148469193	MBD5	M417R	Intellectual disability, autosomal dominant 1	Likely pathogenic (Mar 14, 2022)	criteria provided, single submitter
Select item 209773967.	NM_001378120.1(MBD5):c.4096C>T (p.Pro1366Ser) GRCh37: Chr2:149247297 GRCh38: Chr2:148489728	MBD5	P1133S, P1366S	Intellectual disability, autosomal dominant 1	Uncertain significance (Feb 15, 2022)	criteria provided, single submitter
Select item 209461868.	NM_001378120.1(MBD5):c.4523G>A (p.Ser1508Asn) GRCh37: Chr2:149247724 GRCh38: Chr2:148490155	MBD5	S1508N, S1275N	Intellectual disability, autosomal dominant 1	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 209346569.	NM_001378120.1(MBD5):c.4765_4766insGGCACACACA (p.Lys1589fs) GRCh37: Chr2:149247965-149247966 GRCh38: Chr2:148490396-148490397	MBD5	K1356fs, K1589fs	Intellectual disability, autosomal dominant 1	Pathogenic (Feb 5, 2022)	criteria provided, single submitter
Select item 209235470.	NM_001378120.1(MBD5):c.1676G>A (p.Gly559Glu) GRCh37: Chr2:149227188 GRCh38: Chr2:148469619	MBD5	G559E	Intellectual disability, autosomal dominant 1	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 208733071.	NM_001378120.1(MBD5):c.2359A>T (p.Ile787Phe) GRCh37: Chr2:149227871 GRCh38: Chr2:148470302	MBD5	I787F	Intellectual disability, autosomal dominant 1	Uncertain significance (Jan 17, 2022)	criteria provided, single submitter
Select item 208704972.	NM_001378120.1(MBD5):c.1413T>C (p.Asn471=) GRCh37: Chr2:149226925 GRCh38: Chr2:148469356	MBD5		Intellectual disability, autosomal dominant 1	Likely benign (Jan 17, 2022)	criteria provided, single submitter
Select item 208621073.	NM_001378120.1(MBD5):c.5073T>A (p.Ile1691=) GRCh37: Chr2:149267665 GRCh38: Chr2:148510096	MBD5		Intellectual disability, autosomal dominant 1	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 208595374.	NM_001378120.1(MBD5):c.2038G>A (p.Val680Ile) GRCh37: Chr2:149227550 GRCh38: Chr2:148469981	MBD5	V680I	Intellectual disability, autosomal dominant 1	Uncertain significance (Feb 12, 2022)	criteria provided, single submitter
Select item 207962875.	NM_001378120.1(MBD5):c.3579C>A (p.Asn1193Lys) GRCh37: Chr2:149243345 GRCh38: Chr2:148485776	MBD5	N960K, N1193K	Intellectual disability, autosomal dominant 1	Uncertain significance (Aug 29, 2022)	criteria provided, single submitter
Select item 207759776.	NM_001378120.1(MBD5):c.2025G>C (p.Met675Ile) GRCh37: Chr2:149227537 GRCh38: Chr2:148469968	MBD5	M675I	Intellectual disability, autosomal dominant 1	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 207712677.	NM_001378120.1(MBD5):c.759T>G (p.Ser253Arg) GRCh37: Chr2:149226271 GRCh38: Chr2:148468702	MBD5	S253R	Intellectual disability, autosomal dominant 1	Uncertain significance (Jan 7, 2022)	criteria provided, single submitter
Select item 207315878.	NM_001378120.1(MBD5):c.503T>C (p.Phe168Ser) GRCh37: Chr2:149226015 GRCh38: Chr2:148468446	MBD5	F168S	Intellectual disability, autosomal dominant 1	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 207256079.	NM_001378120.1(MBD5):c.942G>A (p.Met314Ile) GRCh37: Chr2:149226454 GRCh38: Chr2:148468885	MBD5	M314I	Intellectual disability, autosomal dominant 1	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 207143180.	NM_001378120.1(MBD5):c.3673C>A (p.Leu1225Ile) GRCh37: Chr2:149243439 GRCh38: Chr2:148485870	MBD5	L992I, L1225I	Intellectual disability, autosomal dominant 1	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 207049881.	NM_001378120.1(MBD5):c.1170T>C (p.Pro390=) GRCh37: Chr2:149226682 GRCh38: Chr2:148469113	MBD5		Intellectual disability, autosomal dominant 1	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 206510582.	NM_001378120.1(MBD5):c.398-18T>C GRCh37: Chr2:149225892 GRCh38: Chr2:148468323	MBD5		Intellectual disability, autosomal dominant 1	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 206206583.	NM_001378120.1(MBD5):c.2453C>T (p.Thr818Met) GRCh37: Chr2:149227965 GRCh38: Chr2:148470396	MBD5	T818M	Intellectual disability, autosomal dominant 1	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 205631684.	NM_001378120.1(MBD5):c.4645G>A (p.Glu1549Lys) GRCh37: Chr2:149247846 GRCh38: Chr2:148490277	MBD5	E1316K, E1549K	Intellectual disability, autosomal dominant 1	Uncertain significance (Dec 23, 2021)	criteria provided, single submitter
Select item 205141585.	NM_001378120.1(MBD5):c.4441C>T (p.Leu1481=) GRCh37: Chr2:149247642 GRCh38: Chr2:148490073	MBD5		Intellectual disability, autosomal dominant 1	Likely benign (Aug 31, 2022)	criteria provided, single submitter
Select item 205081886.	NM_001378120.1(MBD5):c.1991C>T (p.Thr664Met) GRCh37: Chr2:149227503 GRCh38: Chr2:148469934	MBD5	T664M	Intellectual disability, autosomal dominant 1	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 204981487.	NM_001378120.1(MBD5):c.3881C>A (p.Pro1294Gln) GRCh37: Chr2:149247082 GRCh38: Chr2:148489513	MBD5	P1061Q, P1294Q	Intellectual disability, autosomal dominant 1	Uncertain significance (Dec 20, 2021)	criteria provided, single submitter
Select item 204917288.	NM_001378120.1(MBD5):c.3590C>A (p.Thr1197Asn) GRCh37: Chr2:149243356 GRCh38: Chr2:148485787	MBD5	T1197N, T964N	Intellectual disability, autosomal dominant 1	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 204136589.	NM_001378120.1(MBD5):c.3679G>A (p.Ala1227Thr) GRCh37: Chr2:149243445 GRCh38: Chr2:148485876	MBD5	A1227T, A994T	Intellectual disability, autosomal dominant 1	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 204034490.	NM_001378120.1(MBD5):c.162G>C (p.Leu54=) GRCh37: Chr2:149220199 GRCh38: Chr2:148462630	MBD5		Intellectual disability, autosomal dominant 1	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 203848391.	NM_001378120.1(MBD5):c.32A>G (p.Asp11Gly) GRCh37: Chr2:149216359 GRCh38: Chr2:148458790	MBD5	D11G	Intellectual disability, autosomal dominant 1	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 203731792.	NM_001378120.1(MBD5):c.825A>G (p.Pro275=) GRCh37: Chr2:149226337 GRCh38: Chr2:148468768	MBD5		Intellectual disability, autosomal dominant 1	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 203557693.	NM_001378120.1(MBD5):c.971C>G (p.Pro324Arg) GRCh37: Chr2:149226483 GRCh38: Chr2:148468914	MBD5	P324R	Intellectual disability, autosomal dominant 1	Uncertain significance (Dec 6, 2021)	criteria provided, single submitter
Select item 203519894.	NM_001378120.1(MBD5):c.2519-16T>G GRCh37: Chr2:149240663 GRCh38: Chr2:148483094	MBD5		Intellectual disability, autosomal dominant 1	Likely benign (Oct 12, 2022)	criteria provided, single submitter
Select item 203459395.	NM_001378120.1(MBD5):c.1706A>G (p.His569Arg) GRCh37: Chr2:149227218 GRCh38: Chr2:148469649	MBD5	H569R	Intellectual disability, autosomal dominant 1	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 203031796.	NM_001378120.1(MBD5):c.2124_2125delinsTT (p.Met708_Ser709delinsIleCys) GRCh37: Chr2:149227636-149227637 GRCh38: Chr2:148470067-148470068	MBD5		Intellectual disability, autosomal dominant 1	Uncertain significance (Sep 14, 2022)	criteria provided, single submitter
Select item 202858897.	NM_001378120.1(MBD5):c.5104_5107del (p.Ser1702fs) GRCh37: Chr2:149267694-149267697 GRCh38: Chr2:148510125-148510128	MBD5	S1469fs, S1702fs	Intellectual disability, autosomal dominant 1	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 202719598.	NM_001378120.1(MBD5):c.696T>C (p.Tyr232=) GRCh37: Chr2:149226208 GRCh38: Chr2:148468639	MBD5		Intellectual disability, autosomal dominant 1	Likely benign (Aug 26, 2022)	criteria provided, single submitter
Select item 202713199.	NM_001378120.1(MBD5):c.3864A>C (p.Thr1288=) GRCh37: Chr2:149247065 GRCh38: Chr2:148489496	MBD5		Intellectual disability, autosomal dominant 1	Likely benign (Aug 25, 2022)	criteria provided, single submitter
Select item 2026059100.	NM_001378120.1(MBD5):c.1023A>C (p.Pro341=) GRCh37: Chr2:149226535 GRCh38: Chr2:148468966	MBD5		Intellectual disability, autosomal dominant 1	Likely benign (Oct 19, 2022)	criteria provided, single submitter

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