MBD4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	LOC129937518, LOC129937519 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 2878139	NM_001276270.2(MBD4):c.1716T>G (p.Ser572Arg)	MBD4 (S572R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2700985	NM_001276270.2(MBD4):c.1704T>C (p.His568=)	MBD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2901762	NM_001276270.2(MBD4):c.1703A>G (p.His568Arg)	MBD4 (H574R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1700256	NM_001276270.2(MBD4):c.1688G>A (p.Trp563Ter)	MBD4 (W251* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2868672	NM_001276270.2(MBD4):c.1686C>T (p.Asp562=)	MBD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 218624	NM_001276270.2(MBD4):c.1684G>C (p.Asp562His)	MBD4 (D568H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2778045	NM_001276270.2(MBD4):c.1682A>G (p.His561Arg)	MBD4 (H249R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2830574	NM_001276270.2(MBD4):c.1681C>T (p.His561Tyr)	MBD4 (H249Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2713871	NM_001276270.2(MBD4):c.1679A>G (p.Tyr560Cys)	MBD4 (Y248C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2870365	NM_001276270.2(MBD4):c.1677A>G (p.Lys559=)	MBD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1700254	NM_001276270.2(MBD4):c.1670T>A (p.Leu557Ter)	MBD4 (L563* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2871151	NM_001276270.2(MBD4):c.1667A>G (p.Lys556Arg)	MBD4 (K244R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2702360	NM_001276270.2(MBD4):c.1648-10T>C	MBD4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2867570	NM_001276270.2(MBD4):c.1648-12T>C	MBD4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2872041	NM_001276270.2(MBD4):c.1648-17T>G	MBD4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2702000	NM_001276270.2(MBD4):c.1648-18A>G	MBD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2703857	NM_001276270.2(MBD4):c.1648-20G>C	MBD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277442	NM_001276270.2(MBD4):c.1648-173T>G	MBD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3053265	NM_001276270.2(MBD4):c.1647+60C>T	MBD4	Single nucleotide variant (3 prime UTR variant +1 more)	MBD4-related disorder	GLikely benign
Select item 2776969	NM_001276270.2(MBD4):c.1647+20A>G	MBD4 (H562R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2003981	NM_001276270.2(MBD4):c.1647+16A>G	MBD4 (I561V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1976601	NM_001276270.2(MBD4):c.1647+13C>G	MBD4 (P560A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2795603	NM_001276270.2(MBD4):c.1647+11C>T	MBD4 (T559I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3017227	NM_001276270.2(MBD4):c.1647+3G>A	MBD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2782900	NM_001276270.2(MBD4):c.1637A>T (p.Glu546Val)	MBD4 (E234V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2712037	NM_001276270.2(MBD4):c.1636G>A (p.Glu546Lys)	MBD4 (E234K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2698769	NM_001276270.2(MBD4):c.1635T>C (p.Asn545=)	MBD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2718750	NM_001276270.2(MBD4):c.1634A>G (p.Asn545Ser)	MBD4 (N551S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2250702	NM_001276270.2(MBD4):c.1625T>C (p.Phe542Ser)	MBD4 (F548S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2884000	NM_001276270.2(MBD4):c.1618C>T (p.Arg540Ter)	MBD4 (R546* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2904096	NM_001276270.2(MBD4):c.1614T>C (p.Ser538=)	MBD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2783026	NM_001276270.2(MBD4):c.1611C>T (p.Asp537=)	MBD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2902094	NM_001276270.2(MBD4):c.1602T>C (p.Tyr534=)	MBD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 722362	NM_001276270.2(MBD4):c.1590G>A (p.Gly530=)	MBD4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2791345	NM_001276270.2(MBD4):c.1586A>G (p.His529Arg)	MBD4 (H529R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2700030	NM_001276270.2(MBD4):c.1577T>C (p.Ile526Thr)	MBD4 (I214T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2766065	NM_001276270.2(MBD4):c.1576A>G (p.Ile526Val)	MBD4 (I532V +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2376351	NM_001276270.2(MBD4):c.1574C>T (p.Pro525Leu)	MBD4 (P525L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2702154	NM_001276270.2(MBD4):c.1569G>C (p.Lys523Asn)	MBD4 (K529N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3293507	NM_001276270.2(MBD4):c.1568A>C (p.Lys523Thr)	MBD4 (K523T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985782	NM_001276270.2(MBD4):c.1555A>C (p.Thr519Pro)	MBD4 (T207P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2784606	NM_001276270.2(MBD4):c.1545T>A (p.Asp515Glu)	MBD4 (D203E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700251	NM_001276270.2(MBD4):c.1544-1G>T	MBD4	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2706319	NM_001276270.2(MBD4):c.1544-6C>T	MBD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870523	NM_001276270.2(MBD4):c.1544-7T>C	MBD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870380	NM_001276270.2(MBD4):c.1544-17G>C	MBD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257690	NM_001276270.2(MBD4):c.1544-218T>C	MBD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2871327	NM_001276270.2(MBD4):c.1543+17C>G	MBD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236364	NM_001276270.2(MBD4):c.1543+14C>T	MBD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2880780	NM_001276270.2(MBD4):c.1543+11A>G	MBD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2845732	NM_001276270.2(MBD4):c.1543+10T>A	MBD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2903065	NM_001276270.2(MBD4):c.1543+5T>C	MBD4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1973471	NM_001276270.2(MBD4):c.1535A>G (p.Lys512Arg)	MBD4 (K200R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894015	NM_001276270.2(MBD4):c.1533C>G (p.Val511=)	MBD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796124	NM_001276270.2(MBD4):c.1526C>T (p.Thr509Ile)	MBD4 (T515I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875830	NM_001276270.2(MBD4):c.1518G>A (p.Arg506=)	MBD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1699401	NM_001276270.2(MBD4):c.1517G>A (p.Arg506Gln)	MBD4 (R194Q +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3019651	NM_001276270.2(MBD4):c.1516C>T (p.Arg506Trp)	MBD4 (R512W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2803531	NM_001276270.2(MBD4):c.1516C>G (p.Arg506Gly)	MBD4 (R194G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2320140	NM_001276270.2(MBD4):c.1510G>C (p.Asp504His)	MBD4 (D192H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2783577	NM_001276270.2(MBD4):c.1509C>T (p.Tyr503=)	MBD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3124043	NM_001276270.2(MBD4):c.1508A>G (p.Tyr503Cys)	MBD4 (Y503C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2702401	NM_001276270.2(MBD4):c.1501G>C (p.Gly501Arg)	MBD4 (G501R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2876208	NM_001276270.2(MBD4):c.1495C>A (p.Pro499Thr)	MBD4 (P499T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2776926	NM_001276270.2(MBD4):c.1494A>G (p.Lys498=)	MBD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902826	NM_001276270.2(MBD4):c.1479G>A (p.Val493=)	MBD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2172042	NM_001276270.2(MBD4):c.1478T>C (p.Val493Ala)	MBD4 (V499A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2969122	NM_001276270.2(MBD4):c.1472G>T (p.Arg491Ile)	MBD4 (R491I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2705994	NM_001276270.2(MBD4):c.1472G>C (p.Arg491Thr)	MBD4 (R179T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3029610	NM_001276270.2(MBD4):c.1469G>A (p.Trp490Ter)	MBD4 (W178* +2 more)	Single nucleotide variant (nonsense)	MBD4-related disorder	GUncertain significance
Select item 3019052	NM_001276270.2(MBD4):c.1462G>A (p.Ala488Thr)	MBD4 (A176T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1998467	NM_001276270.2(MBD4):c.1462G>T (p.Ala488Ser)	MBD4 (A488S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2860829	NM_001276270.2(MBD4):c.1461C>T (p.Thr487=)	MBD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3053345	NM_001276270.2(MBD4):c.1456A>C (p.Arg486=)	MBD4	Single nucleotide variant (synonymous variant)	MBD4-related disorder	GLikely benign
Select item 2274349	NM_001276270.2(MBD4):c.1451T>C (p.Val484Ala)	MBD4 (V172A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2706994	NM_001276270.2(MBD4):c.1447G>T (p.Glu483Ter)	MBD4 (E171* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2771397	NM_001276270.2(MBD4):c.1435T>G (p.Tyr479Asp)	MBD4 (Y479D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2725154	NM_001276270.2(MBD4):c.1425del (p.Leu476fs)	MBD4 (L164fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2494765	NM_001276270.2(MBD4):c.1424T>A (p.Phe475Tyr)	MBD4 (F481Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2709769	NM_001276270.2(MBD4):c.1421A>C (p.Lys474Thr)	MBD4 (K474T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2705676	NM_001276270.2(MBD4):c.1420A>C (p.Lys474Gln)	MBD4 (K474Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014185	NM_001276270.2(MBD4):c.1413G>A (p.Val471=)	MBD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1262431	NM_001276270.2(MBD4):c.1395C>T (p.Gly465=)	MBD4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2825834	NM_001276270.2(MBD4):c.1394-1_1394insA	MBD4	Insertion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2806676	NM_001276270.2(MBD4):c.1394-15A>C	MBD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289898	NM_001276270.2(MBD4):c.1394-54A>G	MBD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294890	NM_001276270.2(MBD4):c.1394-140G>A	MBD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283624	NM_001276270.2(MBD4):c.1393+109G>A	MBD4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2745202	NM_001276270.2(MBD4):c.1393+20C>A	MBD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2705192	NM_001276270.2(MBD4):c.1393+18A>G	MBD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875636	NM_001276270.2(MBD4):c.1393+17C>G	MBD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869314	NM_001276270.2(MBD4):c.1393+2T>C	MBD4	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 985558	NM_001276270.2(MBD4):c.1387A>G (p.Thr463Ala)	MBD4 (T151A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1700257	NM_001276270.2(MBD4):c.1384C>T (p.Arg462Trp)	MBD4 (R150W +1 more)	Single nucleotide variant (missense variant)	Melanoma, uveal, susceptibility to, 1	Grisk factor
Select item 1336001	NM_001276270.2(MBD4):c.1382A>G (p.Asn461Ser)	MBD4 (N149S +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1338043	NM_001276270.2(MBD4):c.1372A>G (p.Ile458Val)	MBD4 (I146V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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