Related gene-specific medical variations for Gene (Select 1387) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068070	NM_004380.3(CREBBP):c.7028T>G (p.Val2343Gly)	CREBBP (V2305G +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 3065423	NM_004380.3(CREBBP):c.5238G>T (p.Gly1746=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 3065360	NM_004380.3(CREBBP):c.4471C>A (p.Gln1491Lys)	CREBBP (Q1453K +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely pathogenic
Select item 3065282	NM_004380.3(CREBBP):c.2170T>C (p.Phe724Leu)	CREBBP (F686L +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely benign
Select item 3065156	NM_004380.3(CREBBP):c.5352G>T (p.Gln1784His)	CREBBP (Q1746H +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 3063428	GRCh37/hg19 16p13.3(chr16:3905233-3962938)x1	CREBBP	Copy number loss	not specified	GPathogenic
Select item 3062240	NM_004380.3(CREBBP):c.3270dup (p.Arg1091fs)	CREBBP (R1053fs +1 more)	Duplication (frameshift variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely pathogenic
Select item 3054326	NM_004380.3(CREBBP):c.1730T>C (p.Ile577Thr)	CREBBP, LOC130058353 (I539T +1 more)	Single nucleotide variant (missense variant)	CREBBP-related condition	GUncertain significance
Select item 3035931	NM_004380.3(CREBBP):c.57G>T (p.Ser19=)	CREBBP, LOC130058357	Single nucleotide variant (synonymous variant)	CREBBP-related condition	GLikely benign
Select item 3035434	NM_004380.3(CREBBP):c.39A>G (p.Lys13=)	CREBBP, LOC130058357	Single nucleotide variant (synonymous variant)	CREBBP-related condition	GLikely benign
Select item 3031976	NM_004380.3(CREBBP):c.84A>T (p.Thr28=)	CREBBP, LOC130058357	Single nucleotide variant (synonymous variant)	CREBBP-related condition	GLikely benign
Select item 2962984	NM_004380.3(CREBBP):c.45C>G (p.Ala15=)	CREBBP, LOC130058357	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome	GBenign
Select item 2815334	NM_004380.3(CREBBP):c.61G>A (p.Gly21Ser)	CREBBP, LOC130058357 (G21S)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GUncertain significance
Select item 2734234	NM_004380.3(CREBBP):c.1735A>G (p.Thr579Ala)	CREBBP, LOC130058353 (T541A +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GBenign
Select item 2698270	NM_004380.3(CREBBP):c.70G>A (p.Ala24Thr)	CREBBP, LOC130058357 (A24T)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GUncertain significance
Select item 2688868	NM_004380.3(CREBBP):c.6365A>C (p.Gln2122Pro)	CREBBP (Q2084P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2687858	NM_004380.3(CREBBP):c.2464-2A>G	CREBBP	Single nucleotide variant (splice acceptor variant)	not specified	GLikely pathogenic
Select item 2685545	GRCh37/hg19 16p13.3(chr16:3788869-3849208)x1	CREBBP	Copy number loss	not provided	GPathogenic
Select item 2632086	NM_004380.3(CREBBP):c.1723A>G (p.Ser575Gly)	CREBBP, LOC130058353 (S537G +1 more)	Single nucleotide variant (missense variant)	CREBBP-related condition	GUncertain significance
Select item 2582704	NM_004380.3(CREBBP):c.5168G>T (p.Cys1723Phe)	CREBBP (C1685F +1 more)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 1	GLikely pathogenic
Select item 2582438	NM_004380.3(CREBBP):c.3839T>A (p.Phe1280Tyr)	CREBBP (F1242Y +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 2582106	NM_004380.3(CREBBP):c.79A>T (p.Ser27Cys)	CREBBP, LOC130058357 (S27C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575956	NM_004380.3(CREBBP):c.2085del (p.Pro696fs)	CREBBP (P658fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2574670	NM_004380.3(CREBBP):c.6587_6588dup (p.Leu2197fs)	CREBBP (L2159fs +1 more)	Duplication	Rubinstein-Taybi syndrome due to CREBBP mutations	GPathogenic
Select item 2573091	NM_004380.3(CREBBP):c.1094A>C (p.His365Pro)	CREBBP (H365P)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely pathogenic
Select item 2545882	NM_004380.3(CREBBP):c.1727C>T (p.Thr576Ile)	CREBBP, LOC130058353 (T538I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446424	NM_004380.3(CREBBP):c.1068del (p.Gln356fs)	CREBBP (Q356fs)	Deletion (frameshift variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GPathogenic
Select item 2442183	NM_004380.3(CREBBP):c.6169C>T (p.Gln2057Ter)	CREBBP (Q2019* +1 more)	Single nucleotide variant (nonsense)	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely pathogenic
Select item 2442144	NM_004380.3(CREBBP):c.2701C>T (p.Pro901Ser)	CREBBP (P863S +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 2442128	NM_004380.3(CREBBP):c.3699-11C>A	CREBBP	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 2440557	NM_004380.3(CREBBP):c.5245C>G (p.Leu1749Val)	CREBBP (L1711V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440556	NM_004380.3(CREBBP):c.1756A>G (p.Thr586Ala)	CREBBP (T548A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440555	NM_004380.3(CREBBP):c.6949C>G (p.Gln2317Glu)	CREBBP (Q2279E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440554	NM_004380.3(CREBBP):c.2290A>G (p.Ile764Val)	CREBBP (I726V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440552	NM_004380.3(CREBBP):c.3052A>G (p.Arg1018Gly)	CREBBP (R1018G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440551	NM_004380.3(CREBBP):c.349G>T (p.Ala117Ser)	CREBBP (A117S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440550	NM_004380.3(CREBBP):c.4232G>T (p.Gly1411Val)	CREBBP (G1373V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440549	NM_004380.3(CREBBP):c.5831C>T (p.Ala1944Val)	CREBBP (A1906V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440548	NM_004380.3(CREBBP):c.7098_7102dup (p.Gln2368fs)	CREBBP (Q2330fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2440547	NM_004380.3(CREBBP):c.67T>C (p.Ser23Pro)	CREBBP, LOC130058357 (S23P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440545	NM_004380.3(CREBBP):c.4960C>T (p.Pro1654Ser)	CREBBP (P1616S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440543	NM_004380.3(CREBBP):c.787G>A (p.Gly263Ser)	CREBBP (G263S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440542	NM_004380.3(CREBBP):c.*929A>G	CREBBP	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 2440541	NM_004380.3(CREBBP):c.5134C>G (p.His1712Asp)	CREBBP (H1674D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2310340	NM_004380.3(CREBBP):c.1717A>G (p.Thr573Ala)	CREBBP, LOC130058353 (T535A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295154	NM_004380.3(CREBBP):c.1690G>A (p.Asp564Asn)	CREBBP, LOC130058353 (D526N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2198856	NM_004380.3(CREBBP):c.1725C>T (p.Ser575=)	CREBBP, LOC130058353	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome	GBenign
Select item 2036234	NM_004380.3(CREBBP):c.59C>T (p.Pro20Leu)	CREBBP, LOC130058357 (P20L)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GLikely benign
Select item 1992379	NM_004380.3(CREBBP):c.4666C>G (p.Leu1556Val)	CREBBP (L1556V +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 1809748	NM_004380.3(CREBBP):c.6572A>G (p.Glu2191Gly)	CREBBP (E2153G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1741026	NM_004380.3(CREBBP):c.44C>G (p.Ala15Gly)	CREBBP, LOC130058357 (A15G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1701667	NM_004380.3(CREBBP):c.6559C>T (p.Pro2187Ser)	CREBBP (P2149S +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 1701645	NM_004380.3(CREBBP):c.1941+8G>A	CREBBP	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 1676554	NM_004380.3(CREBBP):c.3219G>C (p.Gln1073His)	CREBBP (Q1035H +1 more)	Single nucleotide variant	not provided	GUncertain significance
Select item 1676444	NM_004380.3(CREBBP):c.5961_5981delinsGCAT (p.Met1988fs)	CREBBP (M1950fs +1 more)	Indel	Rubinstein-Taybi syndrome due to CREBBP mutations +1 more	GLikely pathogenic
Select item 1676347	NM_004380.3(CREBBP):c.199C>G (p.His67Asp)	CREBBP (H67D)	Single nucleotide variant	not provided	GUncertain significance
Select item 1527909	NM_004380.3(CREBBP):c.1930G>C (p.Ala644Pro)	CREBBP (A606P +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely pathogenic
Select item 1342324	NM_004380.3(CREBBP):c.5844_5846dup (p.Ala1949dup)	CREBBP	Duplication (inframe_insertion)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 1341722	NM_004380.3(CREBBP):c.878T>A (p.Val293Glu)	CREBBP (V293E)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 1330223	NM_004380.3(CREBBP):c.3249A>T (p.Lys1083Asn)	CREBBP (K1045N +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 1324171	NM_004380.3(CREBBP):c.4269del (p.Pro1424fs)	CREBBP (P1386fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1322161	NM_004380.3(CREBBP):c.4606_4607del (p.Glu1536fs)	CREBBP (E1498fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1305562	NM_004380.3(CREBBP):c.38A>G (p.Lys13Arg)	CREBBP, LOC130058357 (K13R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1231837	NM_004380.3(CREBBP):c.-26G>A	CREBBP, LOC130058358	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1224416	NM_004380.3(CREBBP):c.1625_1649del (p.Pro542fs)	CREBBP (P504fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1224415	NM_004380.3(CREBBP):c.785G>A (p.Gly262Glu)	CREBBP (G262E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1224316	NM_004380.3(CREBBP):c.1733dup (p.Thr579fs)	CREBBP, LOC130058353 (T541fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1208491	NM_004380.3(CREBBP):c.-24G>A	CREBBP, LOC130058358	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1098668	NM_004380.3(CREBBP):c.2036T>C (p.Leu679Ser)	CREBBP (L641S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1098627	NM_004380.3(CREBBP):c.4141G>A (p.Asp1381Asn)	CREBBP (D1343N +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +1 more	GUncertain significance
Select item 1098576	NM_004380.3(CREBBP):c.3893A>G (p.Tyr1298Cys)	CREBBP (Y1260C +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 1048115	NM_004380.3(CREBBP):c.69G>A (p.Ser23=)	CREBBP, LOC130058357	Single nucleotide variant (synonymous variant)	Tip-toe gait +3 more	GConflicting classifications of pathogenicity
Select item 1047867	GRCh37/hg19 16p13.3(chr16:3784414-3821324)	CREBBP	Copy number loss	Corpus callosum, agenesis of +4 more	GPathogenic
Select item 1029838	NM_004380.3(CREBBP):c.47_48delinsT (p.Lys16fs)	CREBBP, LOC130058357 (K16fs)	Indel (frameshift variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GPathogenic
Select item 980572	GRCh37/hg19 16p13.3(chr16:3776170-3807064)x1	CREBBP	Copy number loss	not provided	GPathogenic
Select item 977430	NM_004380.3(CREBBP):c.6195C>A (p.Ser2065Arg)	CREBBP (S2027R +1 more)	Single nucleotide variant (missense variant)	Global developmental delay +1 more	GUncertain significance
Select item 975527	NM_004380.3(CREBBP):c.6104del (p.Leu2035fs)	CREBBP (L1997fs +1 more)	Deletion (frameshift variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GPathogenic
Select item 975526	NM_004380.3(CREBBP):c.3442C>G (p.Gln1148Glu)	CREBBP (Q1110E +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 975525	NM_004380.3(CREBBP):c.4134-4T>A	CREBBP	Single nucleotide variant (intron variant)	Intellectual disability	GUncertain significance
Select item 975524	NM_004380.3(CREBBP):c.3779+1G>C	CREBBP	Single nucleotide variant (splice donor variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely pathogenic
Select item 975521	NM_004380.3(CREBBP):c.7002G>C (p.Gln2334His)	CREBBP (Q2296H +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 975519	NM_004380.3(CREBBP):c.3836+7A>T	CREBBP	Single nucleotide variant (intron variant)	Intellectual disability	GLikely benign
Select item 960417	NM_004380.3(CREBBP):c.36del (p.Arg14fs)	CREBBP, LOC130058357 (R14fs)	Deletion (frameshift variant)	Rubinstein-Taybi syndrome	GPathogenic
Select item 949434	NM_004380.3(CREBBP):c.37A>C (p.Lys13Gln)	CREBBP, LOC130058357 (K13Q)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GUncertain significance
Select item 932109	NM_004380.3(CREBBP):c.2505G>A (p.Met835Ile)	CREBBP (M835I +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 931686	NM_004380.3(CREBBP):c.62G>A (p.Gly21Asp)	CREBBP, LOC130058357 (G21D)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome +1 more	GConflicting classifications of pathogenicity
Select item 931510	NM_004380.3(CREBBP):c.5611A>C (p.Thr1871Pro)	CREBBP (T1833P +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 931159	NM_004380.3(CREBBP):c.2505G>T (p.Met835Ile)	CREBBP (M835I +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +1 more	GUncertain significance
Select item 930913	NM_004380.3(CREBBP):c.3892T>C (p.Tyr1298His)	CREBBP (Y1298H +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 930619	NM_004380.3(CREBBP):c.668G>C (p.Gly223Ala)	CREBBP (G223A)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 871517	NM_004380.3(CREBBP):c.3701A>G (p.Tyr1234Cys)	CREBBP (Y1196C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 869444	NM_004380.3(CREBBP):c.5186G>C (p.Cys1729Ser)	CREBBP (C1691S +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely pathogenic
Select item 859497	NM_004380.3(CREBBP):c.49del (p.Leu17fs)	CREBBP, LOC130058357 (L17fs)	Deletion (frameshift variant)	Rubinstein-Taybi syndrome	GPathogenic
Select item 807982	NM_004380.3(CREBBP):c.84A>C (p.Thr28=)	CREBBP, LOC130058357	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 803205	NM_004380.3(CREBBP):c.1694del (p.Gly565fs)	CREBBP, LOC130058353 (G527fs +1 more)	Deletion (frameshift variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GPathogenic
Select item 591293	NM_004380.3(CREBBP):c.6594GCA[4] (p.Gln2216del)	CREBBP (Q2216del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 591194	NM_004380.3(CREBBP):c.6329C>A (p.Ala2110Asp)	CREBBP (A2110D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 589590	NM_004380.3(CREBBP):c.1743T>G (p.Ala581=)	CREBBP, LOC130058353	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome +2 more	GBenign/Likely benign
Select item 562316	NM_004380.3(CREBBP):c.5830dup (p.Ala1944fs)	CREBBP (A1906fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 560708	NM_004380.3(CREBBP):c.1562_1563del (p.Leu521fs)	CREBBP (L483fs +1 more)	Microsatellite (frameshift variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GPathogenic

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