ClinVar for MedGen (Select 1639327) - 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 3066176	NM_004380.3(CREBBP):c.3374_3377dup (p.Phe1126fs)	CREBBP (F1088fs +1 more)	Duplication (frameshift variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely pathogenic
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 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 2683988	NM_004380.3(CREBBP):c.4090A>G (p.Ser1364Gly)	CREBBP (S1326G +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome +1 more	GUncertain significance
Select item 2664784	NM_004380.3(CREBBP):c.3068del (p.Glu1023fs)	CREBBP (E1023fs +1 more)	Deletion (frameshift variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GPathogenic
Select item 2628332	NM_004380.3(CREBBP):c.5991del (p.Pro1997_Val1998insTer)	CREBBP	Deletion (frameshift variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GPathogenic
Select item 2627538	NM_004380.3(CREBBP):c.1824-1G>C	CREBBP	Single nucleotide variant (splice acceptor variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely pathogenic
Select item 2585494	NM_004380.3(CREBBP):c.719C>T (p.Ala240Val)	CREBBP (A240V)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 2584926	NM_004380.3(CREBBP):c.1655C>T (p.Pro552Leu)	CREBBP (P552L +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
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 2579185	GRCh38/hg38 16p13.3(chr16:3818098-3858843)x1	CREBBP	Copy number loss	Rubinstein-Taybi syndrome due to CREBBP mutations	GPathogenic
Select item 2578513	NM_004380.3(CREBBP):c.4208A>G (p.Asp1403Gly)	CREBBP (D1365G +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely benign
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 2572396	NM_004380.3(CREBBP):c.2113+1G>C	CREBBP	Single nucleotide variant (splice donor variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely pathogenic
Select item 2506949	NM_004380.3(CREBBP):c.4571A>G (p.Lys1524Arg)	CREBBP (K1486R +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	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 2446424	NM_004380.3(CREBBP):c.1068del (p.Gln356fs)	CREBBP (Q356fs)	Deletion (frameshift variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GPathogenic
Select item 2445209	Single allele	CREBBP, TRAP1	Deletion	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely pathogenic
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 2430129	NM_004380.3(CREBBP):c.1867_1874del (p.Asp623fs)	CREBBP (D585fs +1 more)	Deletion (frameshift variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GPathogenic
Select item 2429846	NM_001429.4(EP300):c.2893C>T (p.Gln965Ter)	EP300, LOC126863158 (Q939* +1 more)	Single nucleotide variant (nonsense)	Rubinstein-Taybi syndrome due to CREBBP mutations	GPathogenic
Select item 2412743	NM_004380.3(CREBBP):c.4567_4568del (p.Phe1523fs)	CREBBP (F1485fs +1 more)	Deletion (frameshift variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GPathogenic
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 2046719	NM_004380.3(CREBBP):c.6732G>A (p.Met2244Ile)	CREBBP (M2206I +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GBenign
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 1878648	NM_004380.3(CREBBP):c.189del (p.Ala64fs)	CREBBP (A64fs)	Deletion (frameshift variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely pathogenic
Select item 1878627	NM_004380.3(CREBBP):c.3504_3527del (p.Asn1168_Tyr1175del)	CREBBP	Deletion (inframe_deletion)	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely pathogenic
Select item 1878542	NM_004380.3(CREBBP):c.875G>A (p.Gly292Glu)	CREBBP (G292E)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 1805907	NM_004380.3(CREBBP):c.5683C>T (p.Gln1895Ter)	CREBBP (Q1857* +1 more)	Single nucleotide variant (nonsense)	Rubinstein-Taybi syndrome due to CREBBP mutations	GPathogenic
Select item 1805595	NM_004380.3(CREBBP):c.3163G>T (p.Val1055Leu)	CREBBP (V1017L +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 1805543	NM_004380.3(CREBBP):c.1090G>C (p.Ala364Pro)	CREBBP (A364P)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely benign
Select item 1805452	NM_004380.3(CREBBP):c.6005_6006del (p.Val2002fs)	CREBBP (V1964fs +1 more)	Microsatellite (frameshift variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GPathogenic
Select item 1805228	NM_004380.3(CREBBP):c.4251C>G (p.Tyr1417Ter)	CREBBP (Y1379* +1 more)	Single nucleotide variant (nonsense)	Rubinstein-Taybi syndrome due to CREBBP mutations	GPathogenic
Select item 1805175	NM_004380.3(CREBBP):c.3749C>A (p.Thr1250Asn)	CREBBP (T1212N +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 1803131	NM_004380.3(CREBBP):c.1776G>C (p.Trp592Cys)	CREBBP (W554C +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	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 1716165	NM_004380.3(CREBBP):c.5242G>T (p.Gly1748Cys)	CREBBP (G1710C +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +1 more	GUncertain significance
Select item 1708068	NM_004380.3(CREBBP):c.4067_4071del (p.Glu1356fs)	CREBBP (E1318fs +1 more)	Deletion (frameshift variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely pathogenic
Select item 1705280	NM_004380.3(CREBBP):c.851del (p.Gly284fs)	CREBBP (G284fs)	Deletion (frameshift variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GPathogenic
Select item 1704330	NM_004380.3(CREBBP):c.4650_4654del (p.Glu1551fs)	CREBBP (E1513fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
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 1699489	NM_004380.3(CREBBP):c.6557A>T (p.Asn2186Ile)	CREBBP (N2148I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1698976	NM_004380.3(CREBBP):c.5804C>T (p.Thr1935Ile)	CREBBP (T1897I +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +1 more	GUncertain significance
Select item 1696547	NM_004380.3(CREBBP):c.4419C>T (p.Ala1473=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome +1 more	GConflicting classifications of pathogenicity
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 1687581	NM_004380.3(CREBBP):c.3907C>T (p.Pro1303Ser)	CREBBP (P1265S +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 1687250	NM_004380.3(CREBBP):c.3983-1G>C	CREBBP	Single nucleotide variant (splice acceptor variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely pathogenic
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 1685673	NM_004380.3(CREBBP):c.5169C>G (p.Cys1723Trp)	CREBBP (C1685W +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GPathogenic
Select item 1685672	NM_004380.3(CREBBP):c.5555_5575del (p.Gln1852_Arg1858del)	CREBBP	Deletion (inframe_deletion)	Rubinstein-Taybi syndrome due to CREBBP mutations	GPathogenic
Select item 1684276	NM_004380.3(CREBBP):c.2436_2437insGCTG (p.Pro813fs)	CREBBP (P775fs +1 more)	Insertion (frameshift variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GPathogenic
Select item 1683620	NM_004380.3(CREBBP):c.4804C>A (p.Arg1602Ser)	CREBBP (R1564S +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 1679399	NM_004380.3(CREBBP):c.4305T>G (p.Asp1435Glu)	CREBBP (D1397E +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely pathogenic
Select item 1679393	NM_004380.3(CREBBP):c.5710C>T (p.Gln1904Ter)	CREBBP (Q1866* +1 more)	Single nucleotide variant (nonsense)	Rubinstein-Taybi syndrome due to CREBBP mutations	GPathogenic
Select item 1679239	NM_004380.3(CREBBP):c.3832G>C (p.Glu1278Gln)	CREBBP (E1240Q +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely pathogenic
Select item 1677248	NM_004380.3(CREBBP):c.1911del (p.Asp639fs)	CREBBP (D601fs +1 more)	Deletion (frameshift variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	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 1675191	NM_004380.3(CREBBP):c.3252C>T (p.Ile1084=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related condition +3 more	GLikely benign
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 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 1350847	NM_001429.4(EP300):c.454G>A (p.Gly152Ser)	EP300 (G152S)	Single nucleotide variant (missense variant)	EP300-related condition +5 more	GConflicting classifications of pathogenicity
Select item 1342894	NM_004380.3(CREBBP):c.4991G>T (p.Arg1664Leu)	CREBBP (R1626L +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely pathogenic
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 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 1339050	NM_004380.3(CREBBP):c.3571C>A (p.Pro1191Thr)	CREBBP (P1153T +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
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 1334702	NM_004380.3(CREBBP):c.3940A>T (p.Lys1314Ter)	CREBBP (K1276* +1 more)	Single nucleotide variant (nonsense)	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely pathogenic
Select item 1333441	NM_004380.3(CREBBP):c.3418del (p.Arg1140fs)	CREBBP (R1102fs +1 more)	Deletion (frameshift variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely pathogenic
Select item 1333271	NM_004380.3(CREBBP):c.3370-2A>G	CREBBP	Single nucleotide variant (splice acceptor variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely pathogenic
Select item 1333260	NM_004380.3(CREBBP):c.4013T>G (p.Leu1338Trp)	CREBBP (L1300W +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	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 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 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 1308633	NM_004380.3(CREBBP):c.6324C>G (p.Tyr2108Ter)	CREBBP (Y2070* +1 more)	Single nucleotide variant (nonsense)	Rubinstein-Taybi syndrome due to CREBBP mutations	GPathogenic
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 1299666	NM_004380.3(CREBBP):c.1676+2_1676+5del	CREBBP	Deletion (splice donor variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GPathogenic
Select item 1275744	NM_004380.3(CREBBP):c.6007C>T (p.Pro2003Ser)	CREBBP (P1965S +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
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 1221123	NM_001429.4(EP300):c.2380-18T>C	EP300	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
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 1199203	NM_004380.3(CREBBP):c.6388C>T (p.Gln2130Ter)	CREBBP (Q2092* +1 more)	Single nucleotide variant (nonsense)	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely pathogenic
Select item 1172536	NM_004380.3(CREBBP):c.3699-1469_3836+1579del	CREBBP	Deletion (splice acceptor variant +1 more)	Rubinstein-Taybi syndrome due to CREBBP mutations	GPathogenic

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