ClinVar for Gene (Select 8930) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3365789	NC_000003.12:g.129439794G>A	IFT122, LOC129937550 +1 more (R14C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3293508	NM_001276270.2(MBD4):c.770T>C (p.Phe257Ser)	MBD4 (F257S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
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 3246992	NC_000003.11:g.(?_129150344)_(129158676_?)del	MBD4	Deletion	not provided	GPathogenic
Select item 3124045	NM_001276270.2(MBD4):c.23G>T (p.Ser8Ile)	LOC129937550, MBD4 (S8I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124044	NM_001276270.2(MBD4):c.220T>C (p.Phe74Leu)	MBD4 (F74L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3124042	NM_001276270.2(MBD4):c.115G>A (p.Val39Ile)	MBD4 (V39I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124041	NM_001276270.2(MBD4):c.1085T>G (p.Val362Gly)	MBD4 (V362G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3067652	NM_001276270.2(MBD4):c.336-1G>A	MBD4	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
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 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 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 3022937	NM_001276270.2(MBD4):c.1214G>A (p.Arg405Lys)	MBD4 (R411K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022384	NM_001276270.2(MBD4):c.1053C>T (p.Thr351=)	MBD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 3017227	NM_001276270.2(MBD4):c.1647+3G>A	MBD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3016353	NM_001276270.2(MBD4):c.1259-7T>G	MBD4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3014927	NM_001276270.2(MBD4):c.10A>G (p.Thr4Ala)	LOC129937550, MBD4 (T4A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014703	NM_001276270.2(MBD4):c.403T>G (p.Ser135Ala)	MBD4 (S135A)	Single nucleotide variant (missense variant +1 more)	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 2975195	NM_001276270.2(MBD4):c.342A>G (p.Gln114=)	MBD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2973762	NM_001276270.2(MBD4):c.683T>A (p.Val228Asp)	MBD4 (V228D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2970971	NM_001276270.2(MBD4):c.549G>A (p.Lys183=)	MBD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2962535	NM_001276270.2(MBD4):c.110A>T (p.Glu37Val)	MBD4 (E37V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959327	NM_001276270.2(MBD4):c.886T>C (p.Cys296Arg)	MBD4 (C296R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2956130	NM_001276270.2(MBD4):c.451A>G (p.Ile151Val)	MBD4 (I151V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2913777	NM_001276270.2(MBD4):c.22A>G (p.Ser8Gly)	LOC129937550, MBD4 (S8G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2910176	NM_001276270.2(MBD4):c.335+1G>A	MBD4	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 2910175	NM_001276270.2(MBD4):c.1277G>A (p.Arg426His)	MBD4 (R114H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907906	NM_001276270.2(MBD4):c.1033_1035del (p.Asn345del)	MBD4 (N345del)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2907676	NM_001276270.2(MBD4):c.1019A>G (p.Lys340Arg)	MBD4 (K340R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2904168	NM_001276270.2(MBD4):c.106A>G (p.Lys36Glu)	MBD4 (K36E)	Single nucleotide variant (missense variant)	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 2903065	NM_001276270.2(MBD4):c.1543+5T>C	MBD4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2902826	NM_001276270.2(MBD4):c.1479G>A (p.Val493=)	MBD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2902408	NM_001276270.2(MBD4):c.885A>G (p.Ala295=)	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 2902085	NM_001276270.2(MBD4):c.104+5G>A	MBD4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 2900708	NM_001276270.2(MBD4):c.665A>T (p.Asp222Val)	MBD4 (D222V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2900451	NM_001276270.2(MBD4):c.1339T>C (p.Phe447Leu)	MBD4 (F135L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900112	NM_001276270.2(MBD4):c.335G>A (p.Ser112Asn)	MBD4 (S112N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2895145	NM_001276270.2(MBD4):c.68G>A (p.Ser23Asn)	MBD4 (S23N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894305	NM_001276270.2(MBD4):c.233C>G (p.Ala78Gly)	MBD4 (A78G)	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 2891386	NM_001276270.2(MBD4):c.1229T>C (p.Leu410Pro)	MBD4 (L410P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2891059	NM_001276270.2(MBD4):c.1206G>A (p.Gln402=)	MBD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888153	NM_001276270.2(MBD4):c.201A>T (p.Glu67Asp)	MBD4 (E67D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2884001	NM_001276270.2(MBD4):c.1273C>T (p.Arg425Ter)	MBD4 (R431* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 2883611	NM_001276270.2(MBD4):c.167_169del (p.Lys56del)	MBD4 (K56del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2880780	NM_001276270.2(MBD4):c.1543+11A>G	MBD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880704	NM_001276270.2(MBD4):c.1274G>T (p.Arg425Leu)	MBD4 (R113L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880663	NM_001276270.2(MBD4):c.1258+3A>G	MBD4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2879676	NM_001276270.2(MBD4):c.37G>A (p.Asp13Asn)	LOC129937550, MBD4 (D13N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2878853	NM_001276270.2(MBD4):c.249dup (p.Lys84Ter)	MBD4 (K84*)	Duplication (nonsense +1 more)	not provided	GPathogenic
Select item 2878375	NM_001276270.2(MBD4):c.1249A>G (p.Asn417Asp)	MBD4 (N105D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2877777	NM_001276270.2(MBD4):c.105-16G>A	MBD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877668	NM_001276270.2(MBD4):c.105-15A>T	MBD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876542	NM_001276270.2(MBD4):c.783T>C (p.Asp261=)	MBD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2876210	NM_001276270.2(MBD4):c.387C>A (p.His129Gln)	MBD4 (H129Q)	Single nucleotide variant (missense variant +1 more)	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 2875830	NM_001276270.2(MBD4):c.1518G>A (p.Arg506=)	MBD4	Single nucleotide variant (synonymous 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 2873962	NM_001276270.2(MBD4):c.573G>A (p.Pro191=)	MBD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2873655	NM_001276270.2(MBD4):c.1035C>T (p.Asn345=)	MBD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2872797	NM_001276270.2(MBD4):c.262T>C (p.Cys88Arg)	MBD4 (C88R)	Single nucleotide variant (missense variant +1 more)	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 2871982	NM_001276270.2(MBD4):c.1306C>T (p.Arg436Trp)	MBD4 (R436W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871662	NM_001276270.2(MBD4):c.139G>A (p.Gly47Arg)	MBD4 (G47R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871419	NM_001276270.2(MBD4):c.25_26del (p.Leu9fs)	LOC129937550, MBD4 (L9fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2871327	NM_001276270.2(MBD4):c.1543+17C>G	MBD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871203	NM_001276270.2(MBD4):c.1259-15A>C	MBD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2870945	NM_001276270.2(MBD4):c.105-19T>G	MBD4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870877	NM_001276270.2(MBD4):c.555A>G (p.Lys185=)	MBD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2870694	NM_001276270.2(MBD4):c.840A>G (p.Gln280=)	MBD4	Single nucleotide variant (synonymous variant +1 more)	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 2870385	NM_001276270.2(MBD4):c.849G>A (p.Gln283=)	MBD4	Single nucleotide variant (synonymous variant +1 more)	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 2870365	NM_001276270.2(MBD4):c.1677A>G (p.Lys559=)	MBD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2870055	NM_001276270.2(MBD4):c.282G>A (p.Val94=)	MBD4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2869960	NM_001276270.2(MBD4):c.596A>G (p.Gln199Arg)	MBD4 (Q199R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2869748	NM_001276270.2(MBD4):c.570G>A (p.Met190Ile)	MBD4 (M190I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2869314	NM_001276270.2(MBD4):c.1393+2T>C	MBD4	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2869192	NM_001276270.2(MBD4):c.1060G>A (p.Glu354Lys)	MBD4 (E354K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2869091	NM_001276270.2(MBD4):c.1365C>T (p.Ile455=)	MBD4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2868830	NM_001276270.2(MBD4):c.953G>A (p.Ser318Asn)	MBD4 (S318N)	Single nucleotide variant (missense variant +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 2868668	NM_001276270.2(MBD4):c.521C>T (p.Ser174Leu)	MBD4 (S174L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2868166	NM_001276270.2(MBD4):c.1195C>T (p.Pro399Ser)	MBD4 (P399S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868103	NM_001276270.2(MBD4):c.890G>C (p.Gly297Ala)	MBD4 (G297A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2867695	NM_001276270.2(MBD4):c.1274G>A (p.Arg425Gln)	MBD4 (R431Q +2 more)	Single nucleotide variant (missense 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 2867248	NM_001276270.2(MBD4):c.1362C>T (p.Leu454=)	MBD4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2863491	NM_001276270.2(MBD4):c.159GAT[1] (p.Met54del)	MBD4 (M54del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance

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