ClinVar for MedGen (Select 1675629) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585374	NM_004380.3(CREBBP):c.6452G>A (p.Arg2151Gln)	CREBBP (R2151Q +1 more)	Single nucleotide variant (missense variant)	CREBBP-related condition +1 more	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 2578448	NM_004380.3(CREBBP):c.1108C>G (p.Arg370Gly)	CREBBP (R370G)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 1	GUncertain significance
Select item 2506388	NM_004380.3(CREBBP):c.3659C>T (p.Thr1220Ile)	CREBBP (T1182I +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +1 more	GLikely benign
Select item 2431901	NM_004380.3(CREBBP):c.5572_5592dup (p.Leu1864_Met1865insArgLeuGlnGlnAlaGlnLeu)	CREBBP	Duplication (inframe_insertion)	Menke-Hennekam syndrome 1	GUncertain significance
Select item 2429444	NM_004380.3(CREBBP):c.1677-3T>C	CREBBP	Single nucleotide variant (intron variant)	Menke-Hennekam syndrome 1	GUncertain significance
Select item 2231507	NM_004380.3(CREBBP):c.4490A>C (p.Lys1497Thr)	CREBBP (K1459T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1878429	NM_004380.3(CREBBP):c.6121T>C (p.Ser2041Pro)	CREBBP (S2003P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1803786	NM_004380.3(CREBBP):c.7156G>A (p.Gly2386Arg)	CREBBP (G2348R +1 more)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 1	GUncertain significance
Select item 1723732	NM_004380.3(CREBBP):c.3181G>A (p.Glu1061Lys)	CREBBP (E1023K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1709268	NM_004380.3(CREBBP):c.4903A>T (p.Ile1635Phe)	CREBBP (I1597F +1 more)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 1	GUncertain significance
Select item 1709029	NM_004380.3(CREBBP):c.6013C>T (p.Pro2005Ser)	CREBBP (P1967S +1 more)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 1	GLikely benign
Select item 1707599	NM_004380.3(CREBBP):c.7010C>T (p.Thr2337Met)	CREBBP (T2299M +1 more)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 1	GUncertain significance
Select item 1706589	NM_004380.3(CREBBP):c.5356C>G (p.Arg1786Gly)	CREBBP (R1748G +1 more)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 1	GLikely pathogenic
Select item 1703236	NM_004380.3(CREBBP):c.5558A>C (p.Gln1853Pro)	CREBBP (Q1815P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 1698938	NM_004380.3(CREBBP):c.4579A>G (p.Thr1527Ala)	CREBBP (T1489A +1 more)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 1	GUncertain significance
Select item 1690699	NM_004380.3(CREBBP):c.3974G>T (p.Ser1325Ile)	CREBBP (S1287I +1 more)	Single nucleotide variant (missense variant)	See cases +3 more	GUncertain significance
Select item 1686599	NM_004380.3(CREBBP):c.3485A>G (p.Asn1162Ser)	CREBBP (N1124S +1 more)	Single nucleotide variant (missense variant)	CREBBP-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1684506	NM_004380.3(CREBBP):c.6043dup (p.Ser2015fs)	CREBBP (S1977fs +1 more)	Duplication (frameshift variant)	Menke-Hennekam syndrome 1	GPathogenic
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 1654896	NM_004380.3(CREBBP):c.7116G>A (p.Ser2372=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related condition +3 more	GLikely benign
Select item 1651821	NM_004380.3(CREBBP):c.3204C>T (p.Asn1068=)	CREBBP	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 1629194	NM_004380.3(CREBBP):c.3370-17A>T	CREBBP	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +2 more	GLikely benign
Select item 1342483	NM_004380.3(CREBBP):c.5794A>G (p.Thr1932Ala)	CREBBP (T1894A +1 more)	Single nucleotide variant (missense variant)	CREBBP-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1337839	NM_004380.3(CREBBP):c.4709C>T (p.Ala1570Val)	CREBBP (A1532V +1 more)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 1 +2 more	GUncertain significance
Select item 1331246	NM_004380.3(CREBBP):c.2303G>A (p.Arg768Gln)	CREBBP (R730Q +1 more)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 1329488	NM_004380.3(CREBBP):c.5462A>G (p.Gln1821Arg)	CREBBP (Q1783R +1 more)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 1 +1 more	GUncertain significance
Select item 1327228	NM_004380.3(CREBBP):c.712G>A (p.Val238Met)	CREBBP (V238M)	Single nucleotide variant (missense variant)	CREBBP-related condition +4 more	GConflicting classifications of pathogenicity
Select item 1309057	NM_004380.3(CREBBP):c.6594GCA[3] (p.Gln2215_Gln2216del)	CREBBP	Microsatellite (inframe_deletion)	Rubinstein-Taybi syndrome +3 more	GUncertain significance
Select item 1302981	NM_004380.3(CREBBP):c.2598G>T (p.Met866Ile)	CREBBP (M828I +1 more)	Single nucleotide variant (missense variant)	CREBBP-related condition +5 more	GConflicting classifications of pathogenicity
Select item 1254785	NM_004380.3(CREBBP):c.3233C>T (p.Ser1078Leu)	CREBBP (S1040L +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +3 more	GUncertain significance
Select item 1253583	NM_004380.3(CREBBP):c.3641A>G (p.Tyr1214Cys)	CREBBP (Y1176C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1247643	NM_004380.3(CREBBP):c.1574-12C>T	CREBBP	Single nucleotide variant (intron variant)	Menke-Hennekam syndrome 1 +3 more	GBenign
Select item 1223831	NM_004380.3(CREBBP):c.4121G>C (p.Gly1374Ala)	CREBBP (G1336A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1211662	NM_004380.3(CREBBP):c.2846C>T (p.Pro949Leu)	CREBBP (P911L +1 more)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 1 +4 more	GBenign/Likely benign
Select item 1209412	NM_004380.3(CREBBP):c.5836C>G (p.Pro1946Ala)	CREBBP (P1908A +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1199433	NM_004380.3(CREBBP):c.2439G>A (p.Pro813=)	CREBBP	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 1184818	NM_004380.3(CREBBP):c.5609CCA[1] (p.Thr1871del)	CREBBP (T1833del +1 more)	Microsatellite (inframe_deletion)	Menke-Hennekam syndrome 1	GLikely pathogenic
Select item 1136687	NM_004380.3(CREBBP):c.2464-7C>G	CREBBP	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +3 more	GLikely benign
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 1066341	NM_004380.3(CREBBP):c.5060C>T (p.Ser1687Phe)	CREBBP (S1649F +1 more)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 1 +2 more	GLikely pathogenic
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 1030789	NM_004380.3(CREBBP):c.7251G>A (p.Arg2417=)	CREBBP	Single nucleotide variant (synonymous variant)	Menke-Hennekam syndrome 1	GUncertain significance
Select item 1030788	NM_004380.3(CREBBP):c.7184T>C (p.Ile2395Thr)	CREBBP (I2395T +1 more)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 1030787	NM_004380.3(CREBBP):c.7118C>T (p.Pro2373Leu)	CREBBP (P2335L +1 more)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 1	GUncertain significance
Select item 1029835	NM_004380.3(CREBBP):c.2170T>A (p.Phe724Ile)	CREBBP (F686I +1 more)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 1	GUncertain significance
Select item 1029834	NM_004380.3(CREBBP):c.1418C>T (p.Pro473Leu)	CREBBP (P435L +1 more)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 1	GUncertain significance
Select item 998205	NM_004380.3(CREBBP):c.2854G>A (p.Val952Met)	CREBBP (V914M +1 more)	Single nucleotide variant (missense variant)	CREBBP-related condition +3 more	GConflicting classifications of pathogenicity
Select item 997005	NM_004380.3(CREBBP):c.4050T>A (p.Asn1350Lys)	CREBBP (N1312K +1 more)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 1	GUncertain significance
Select item 977443	NM_004380.3(CREBBP):c.2417T>A (p.Met806Lys)	CREBBP (M768K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 975523	NM_004380.3(CREBBP):c.2438C>T (p.Pro813Leu)	CREBBP (P775L +1 more)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 970435	NM_004380.3(CREBBP):c.6126G>T (p.Met2042Ile)	CREBBP (M2004I +1 more)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 1 +3 more	GUncertain significance
Select item 931917	NM_004380.3(CREBBP):c.2420G>C (p.Ser807Thr)	CREBBP (S807T +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +2 more	GConflicting classifications of pathogenicity
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 772632	NM_004380.3(CREBBP):c.3982+9C>T	CREBBP	Single nucleotide variant (intron variant)	Menke-Hennekam syndrome 1 +3 more	GBenign/Likely benign
Select item 767287	NM_004380.3(CREBBP):c.3060+9C>T	CREBBP	Single nucleotide variant (intron variant)	Menke-Hennekam syndrome 1 +3 more	GLikely benign
Select item 766921	NM_004380.3(CREBBP):c.5886C>T (p.Ile1962=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related condition +5 more	GBenign/Likely benign
Select item 752851	NM_004380.3(CREBBP):c.6834G>A (p.Gly2278=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related condition +3 more	GLikely benign
Select item 752809	NM_004380.3(CREBBP):c.1143G>A (p.Ser381=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +3 more	GLikely benign
Select item 739510	NM_004380.3(CREBBP):c.6795G>A (p.Ala2265=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related condition +3 more	GLikely benign
Select item 730765	NM_004380.3(CREBBP):c.4956C>T (p.Pro1652=)	CREBBP	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 730758	NM_004380.3(CREBBP):c.2400G>A (p.Pro800=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related condition +5 more	GLikely benign
Select item 730378	NM_004380.3(CREBBP):c.2064G>A (p.Pro688=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +2 more	GLikely benign
Select item 707659	NM_004380.3(CREBBP):c.960C>T (p.Thr320=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +2 more	GLikely benign
Select item 707384	NM_004380.3(CREBBP):c.4133+9G>A	CREBBP	Single nucleotide variant (intron variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 706144	NM_004380.3(CREBBP):c.1095T>C (p.His365=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +3 more	GBenign/Likely benign
Select item 705723	NM_004380.3(CREBBP):c.7236G>A (p.Leu2412=)	CREBBP	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 704784	NM_004380.3(CREBBP):c.4119C>T (p.Pro1373=)	CREBBP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 703156	NM_004380.3(CREBBP):c.4992C>T (p.Arg1664=)	CREBBP	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 702718	NM_004380.3(CREBBP):c.6138G>A (p.Ala2046=)	CREBBP	Single nucleotide variant (synonymous variant)	Menke-Hennekam syndrome 1 +3 more	GBenign/Likely benign
Select item 694755	NM_004380.3(CREBBP):c.772A>G (p.Thr258Ala)	CREBBP (T258A)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +2 more	GUncertain significance
Select item 689704	NM_004380.3(CREBBP):c.1585A>G (p.Met529Val)	CREBBP (M491V +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +2 more	GUncertain significance
Select item 619094	NM_004380.3(CREBBP):c.5170G>A (p.Glu1724Lys)	CREBBP (E1724K +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 619090	NM_004380.3(CREBBP):c.5128T>C (p.Cys1710Arg)	CREBBP (C1710R +1 more)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 1	GPathogenic
Select item 596217	NM_004380.3(CREBBP):c.2860G>A (p.Ala954Thr)	CREBBP (A954T +1 more)	Single nucleotide variant (missense variant)	CREBBP-related condition +3 more	GUncertain significance
Select item 596156	NM_004380.3(CREBBP):c.1520A>G (p.Gln507Arg)	CREBBP (Q507R +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +3 more	GConflicting classifications of pathogenicity
Select item 591453	NM_004380.3(CREBBP):c.5344G>A (p.Ala1782Thr)	CREBBP (A1782T +1 more)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 1	GLikely pathogenic
Select item 589698	NM_004380.3(CREBBP):c.5241G>T (p.Leu1747=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome +3 more	GLikely benign
Select item 589696	NM_004380.3(CREBBP):c.3465C>T (p.Asp1155=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome +3 more	GLikely benign
Select item 589622	NM_004380.3(CREBBP):c.4251C>T (p.Tyr1417=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome +4 more	GLikely benign
Select item 589405	NM_004380.3(CREBBP):c.6450G>A (p.Pro2150=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome +4 more	GLikely benign
Select item 589290	NM_004380.3(CREBBP):c.2118A>G (p.Gly706=)	CREBBP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GLikely benign
Select item 589114	NM_004380.3(CREBBP):c.3021G>C (p.Glu1007Asp)	CREBBP (E1007D +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome +6 more	GBenign/Likely benign
Select item 589088	NM_004380.3(CREBBP):c.2482G>T (p.Ala828Ser)	CREBBP (A828S +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome +5 more	GBenign/Likely benign
Select item 588775	NM_004380.3(CREBBP):c.681T>C (p.Pro227=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +5 more	GBenign/Likely benign
Select item 588642	NM_004380.3(CREBBP):c.6684C>T (p.His2228=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +5 more	GBenign/Likely benign
Select item 588271	NM_004380.3(CREBBP):c.435C>T (p.Pro145=)	CREBBP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GLikely benign
Select item 588008	NM_004380.3(CREBBP):c.5271C>T (p.Gly1757=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +5 more	GBenign/Likely benign
Select item 587874	NM_004380.3(CREBBP):c.6195C>T (p.Ser2065=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +5 more	GBenign/Likely benign
Select item 587612	NM_004380.3(CREBBP):c.5740G>A (p.Val1914Met)	CREBBP (V1914M +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +2 more	GConflicting classifications of pathogenicity
Select item 579872	NM_004380.3(CREBBP):c.4890+6C>T	CREBBP	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +2 more	GUncertain significance
Select item 577675	NM_004380.3(CREBBP):c.5837C>A (p.Pro1946Gln)	CREBBP (P1946Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 521543	NM_004380.3(CREBBP):c.5366A>G (p.Asn1789Ser)	CREBBP (N1789S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 521159	NM_004380.3(CREBBP):c.4894TTC[1] (p.Phe1633del)	CREBBP (F1633del +1 more)	Microsatellite (inframe_deletion)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 501384	NM_004380.3(CREBBP):c.2409C>T (p.Ser803=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +5 more	GBenign/Likely benign
Select item 498863	NM_004380.3(CREBBP):c.6849C>T (p.Ser2283=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +5 more	GBenign/Likely benign
Select item 497411	NM_004380.3(CREBBP):c.1633T>C (p.Leu545=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +6 more	GLikely benign
Select item 458206	NM_004380.3(CREBBP):c.879G>A (p.Val293=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +5 more	GBenign/Likely benign
Select item 458204	NM_004380.3(CREBBP):c.6071C>T (p.Ala2024Val)	CREBBP (A2024V +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome +4 more	GConflicting classifications of pathogenicity
Select item 444357	NM_004380.3(CREBBP):c.7125C>T (p.His2375=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome +3 more	GConflicting classifications of pathogenicity

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