ClinVar for Gene (Select 1387) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362649	NM_004380.3(CREBBP):c.5629G>A (p.Val1877Met)	CREBBP (V1839M +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 3361936	NM_004380.3(CREBBP):c.5696C>T (p.Thr1899Ile)	CREBBP (T1861I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360970	NM_004380.3(CREBBP):c.4397A>G (p.Tyr1466Cys)	CREBBP (Y1428C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360599	NM_004380.3(CREBBP):c.3836+2dup	CREBBP	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 3360546	NM_004380.3(CREBBP):c.3377T>C (p.Phe1126Ser)	CREBBP (F1088S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359641	NM_004380.3(CREBBP):c.728T>C (p.Leu243Pro)	CREBBP (L243P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359582	NM_004380.3(CREBBP):c.3167A>T (p.Lys1056Ile)	CREBBP (K1018I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359581	NM_004380.3(CREBBP):c.3283A>T (p.Met1095Leu)	CREBBP (M1057L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359534	NM_004380.3(CREBBP):c.3698+5G>A	CREBBP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3358609	NM_004380.3(CREBBP):c.2618C>T (p.Thr873Ile)	CREBBP (T835I +1 more)	Single nucleotide variant (missense variant)	CREBBP-related disorder	GUncertain significance
Select item 3358453	NM_004380.3(CREBBP):c.4980C>T (p.Leu1660=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3358419	NM_004380.3(CREBBP):c.2310T>C (p.Pro770=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3358330	NM_004380.3(CREBBP):c.1654C>T (p.Pro552Ser)	CREBBP (P514S +1 more)	Single nucleotide variant (missense variant)	CREBBP-related disorder	GUncertain significance
Select item 3358309	NM_004380.3(CREBBP):c.6765C>T (p.Pro2255=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3358306	NM_004380.3(CREBBP):c.5837C>T (p.Pro1946Leu)	CREBBP (P1908L +1 more)	Single nucleotide variant (missense variant)	CREBBP-related disorder	GUncertain significance
Select item 3358270	NM_004380.3(CREBBP):c.2577T>C (p.Pro859=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3358038	NM_004380.3(CREBBP):c.5289C>T (p.Ser1763=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3357925	NM_004380.3(CREBBP):c.5965G>A (p.Gly1989Arg)	CREBBP (G1951R +1 more)	Single nucleotide variant (missense variant)	CREBBP-related disorder	GUncertain significance
Select item 3357916	NM_004380.3(CREBBP):c.1720C>G (p.Leu574Val)	CREBBP, LOC130058353 (L536V +1 more)	Single nucleotide variant (missense variant)	CREBBP-related disorder	GUncertain significance
Select item 3357874	NM_004380.3(CREBBP):c.5776C>T (p.Arg1926Trp)	CREBBP (R1888W +1 more)	Single nucleotide variant (missense variant)	CREBBP-related disorder	GUncertain significance
Select item 3357635	NM_004380.3(CREBBP):c.3698+7G>T	CREBBP	Single nucleotide variant (intron variant)	CREBBP-related disorder	GLikely benign
Select item 3357527	NM_004380.3(CREBBP):c.383C>T (p.Ser128Phe)	CREBBP (S128F)	Single nucleotide variant (missense variant)	CREBBP-related disorder	GUncertain significance
Select item 3357328	NM_004380.3(CREBBP):c.5406G>C (p.Val1802=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3357198	NM_004380.3(CREBBP):c.727C>T (p.Leu243=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3357046	NM_004380.3(CREBBP):c.4561-10del	CREBBP	Deletion (intron variant)	CREBBP-related disorder	GLikely benign
Select item 3356984	NM_004380.3(CREBBP):c.251C>G (p.Pro84Arg)	CREBBP (P84R)	Single nucleotide variant (missense variant)	CREBBP-related disorder	GUncertain significance
Select item 3356944	NM_004380.3(CREBBP):c.790A>G (p.Met264Val)	CREBBP (M264V)	Single nucleotide variant (missense variant)	CREBBP-related disorder	GUncertain significance
Select item 3356761	NM_004380.3(CREBBP):c.7248C>T (p.Ser2416=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3356718	NM_004380.3(CREBBP):c.6547G>T (p.Ala2183Ser)	CREBBP (A2145S +1 more)	Single nucleotide variant (missense variant)	CREBBP-related disorder	GUncertain significance
Select item 3356636	NM_004380.3(CREBBP):c.4749G>T (p.Lys1583Asn)	CREBBP (K1545N +1 more)	Single nucleotide variant (missense variant)	CREBBP-related disorder	GUncertain significance
Select item 3356616	NM_004380.3(CREBBP):c.5781T>G (p.Thr1927=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3356608	NM_004380.3(CREBBP):c.6869C>T (p.Ala2290Val)	CREBBP (A2252V +1 more)	Single nucleotide variant (missense variant)	CREBBP-related disorder	GUncertain significance
Select item 3356565	NM_004380.3(CREBBP):c.6747C>A (p.Arg2249=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3356517	NM_004380.3(CREBBP):c.6998A>G (p.Gln2333Arg)	CREBBP (Q2295R +1 more)	Single nucleotide variant (missense variant)	CREBBP-related disorder	GUncertain significance
Select item 3356510	NM_004380.3(CREBBP):c.6162C>G (p.Pro2054=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3356247	NM_004380.3(CREBBP):c.2455G>A (p.Val819Met)	CREBBP (V781M +1 more)	Single nucleotide variant (missense variant)	CREBBP-related disorder	GLikely benign
Select item 3356229	NM_004380.3(CREBBP):c.6630G>C (p.Gln2210His)	CREBBP (Q2172H +1 more)	Single nucleotide variant (missense variant)	CREBBP-related disorder	GLikely benign
Select item 3356206	NM_004380.3(CREBBP):c.5112C>G (p.Val1704=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3355998	NM_004380.3(CREBBP):c.237C>A (p.Gly79=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3355803	NM_004380.3(CREBBP):c.513T>C (p.Thr171=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3355690	NM_004380.3(CREBBP):c.441C>G (p.Ala147=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3355666	NM_004380.3(CREBBP):c.2733A>G (p.Gln911=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3355584	NM_004380.3(CREBBP):c.4632C>T (p.Phe1544=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3355532	NM_004380.3(CREBBP):c.2503A>G (p.Met835Val)	CREBBP (M797V +1 more)	Single nucleotide variant (missense variant)	CREBBP-related disorder	GUncertain significance
Select item 3355514	NM_004380.3(CREBBP):c.2806C>T (p.Pro936Ser)	CREBBP (P898S +1 more)	Single nucleotide variant (missense variant)	CREBBP-related disorder	GUncertain significance
Select item 3355394	NM_004380.3(CREBBP):c.6834G>T (p.Gly2278=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3355328	NM_004380.3(CREBBP):c.6066G>A (p.Gln2022=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3355319	NM_004380.3(CREBBP):c.57G>C (p.Ser19=)	CREBBP, LOC130058357	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3355275	NM_004380.3(CREBBP):c.5944C>T (p.Pro1982Ser)	CREBBP (P1944S +1 more)	Single nucleotide variant (missense variant)	CREBBP-related disorder	GUncertain significance
Select item 3355183	NM_004380.3(CREBBP):c.6348G>C (p.Gln2116His)	CREBBP (Q2078H +1 more)	Single nucleotide variant (missense variant)	CREBBP-related disorder	GUncertain significance
Select item 3355076	NM_004380.3(CREBBP):c.321G>A (p.Pro107=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3355034	NM_004380.3(CREBBP):c.7234C>T (p.Leu2412=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3355009	NM_004380.3(CREBBP):c.2775G>A (p.Gln925=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3354962	NM_004380.3(CREBBP):c.1755C>T (p.Ser585=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3354782	NM_004380.3(CREBBP):c.5301A>G (p.Ser1767=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3354720	NM_004380.3(CREBBP):c.6366G>A (p.Gln2122=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3354605	NM_004380.3(CREBBP):c.4728+6G>A	CREBBP	Single nucleotide variant (intron variant)	CREBBP-related disorder	GLikely benign
Select item 3354432	NM_004380.3(CREBBP):c.3330T>A (p.Pro1110=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3354349	NM_004380.3(CREBBP):c.2184C>T (p.Ser728=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3354348	NM_004380.3(CREBBP):c.2569C>T (p.Pro857Ser)	CREBBP (P819S +1 more)	Single nucleotide variant (missense variant)	CREBBP-related disorder	GUncertain significance
Select item 3354329	NM_004380.3(CREBBP):c.307G>C (p.Ala103Pro)	CREBBP (A103P)	Single nucleotide variant (missense variant)	CREBBP-related disorder	GUncertain significance
Select item 3354279	NM_004380.3(CREBBP):c.1563C>A (p.Leu521=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3354271	NM_004380.3(CREBBP):c.2406C>T (p.Ser802=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3354205	NM_004380.3(CREBBP):c.4614C>T (p.Pro1538=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3354155	NM_004380.3(CREBBP):c.2916C>G (p.Val972=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3354123	NM_004380.3(CREBBP):c.4890+4G>A	CREBBP	Single nucleotide variant (intron variant)	CREBBP-related disorder	GLikely benign
Select item 3354038	NM_004380.3(CREBBP):c.20A>G (p.Asp7Gly)	CREBBP (D7G)	Single nucleotide variant (missense variant)	CREBBP-related disorder	GUncertain significance
Select item 3354013	NM_004380.3(CREBBP):c.6721C>G (p.Pro2241Ala)	CREBBP (P2203A +1 more)	Single nucleotide variant (missense variant)	CREBBP-related disorder	GUncertain significance
Select item 3353846	NM_004380.3(CREBBP):c.1770A>G (p.Lys590=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3353802	NM_004380.3(CREBBP):c.4656C>T (p.Ser1552=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3353631	NM_004380.3(CREBBP):c.2708C>T (p.Pro903Leu)	CREBBP (P865L +1 more)	Single nucleotide variant (missense variant)	CREBBP-related disorder	GUncertain significance
Select item 3353595	NM_004380.3(CREBBP):c.2985G>A (p.Leu995=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3353412	NM_004380.3(CREBBP):c.4322G>A (p.Arg1441Gln)	CREBBP (R1403Q +1 more)	Single nucleotide variant (missense variant)	CREBBP-related disorder	GUncertain significance
Select item 3353399	NM_004380.3(CREBBP):c.1238G>A (p.Arg413Gln)	CREBBP (R413Q)	Single nucleotide variant (missense variant +1 more)	CREBBP-related disorder	GUncertain significance
Select item 3353284	NM_004380.3(CREBBP):c.4944C>T (p.Pro1648=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3353275	NM_004380.3(CREBBP):c.2158+10T>C	CREBBP	Single nucleotide variant (intron variant)	CREBBP-related disorder	GLikely benign
Select item 3353217	NM_004380.3(CREBBP):c.5373G>A (p.Ser1791=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3353194	NM_004380.3(CREBBP):c.6580C>T (p.Arg2194Trp)	CREBBP (R2156W +1 more)	Single nucleotide variant (missense variant)	CREBBP-related disorder	GUncertain significance
Select item 3353177	NM_004380.3(CREBBP):c.1293C>T (p.Leu431=)	CREBBP	Single nucleotide variant (synonymous variant +1 more)	CREBBP-related disorder	GLikely benign
Select item 3353144	NM_004380.3(CREBBP):c.6600GCAGCAGCAACA[3] (p.Gln2216_Gly2217insGlnGlnGlnGln)	CREBBP	Microsatellite (inframe_insertion)	CREBBP-related disorder	GUncertain significance
Select item 3353054	NM_004380.3(CREBBP):c.6608_6609insGC (p.Gln2204fs)	CREBBP (Q2166fs +1 more)	Insertion (frameshift variant)	CREBBP-related disorder	GLikely benign
Select item 3353021	NM_004380.3(CREBBP):c.2964A>G (p.Pro988=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3352954	NM_004380.3(CREBBP):c.6609_6610insG (p.Gln2204fs)	CREBBP (Q2166fs +1 more)	Insertion (frameshift variant)	CREBBP-related disorder	GLikely benign
Select item 3352167	NM_004380.3(CREBBP):c.6490C>T (p.Leu2164=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3352065	NM_004380.3(CREBBP):c.7258C>T (p.Leu2420=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3352064	NM_004380.3(CREBBP):c.6627G>A (p.Gln2209=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3352001	NM_004380.3(CREBBP):c.417C>T (p.Ser139=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3351953	NM_004380.3(CREBBP):c.7266C>T (p.Ser2422=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3351846	NM_004380.3(CREBBP):c.7269A>G (p.Glu2423=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3351808	NM_004380.3(CREBBP):c.6215G>A (p.Arg2072Gln)	CREBBP (R2034Q +1 more)	Single nucleotide variant (missense variant)	CREBBP-related disorder	GUncertain significance
Select item 3351800	NM_004380.3(CREBBP):c.2554C>G (p.Pro852Ala)	CREBBP (P814A +1 more)	Single nucleotide variant (missense variant)	CREBBP-related disorder	GUncertain significance
Select item 3351718	NM_004380.3(CREBBP):c.2331T>A (p.Gly777=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3351600	NM_004380.3(CREBBP):c.2367T>G (p.Ala789=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3351484	NM_004380.3(CREBBP):c.21C>T (p.Asp7=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3351353	NM_004380.3(CREBBP):c.4708G>A (p.Ala1570Thr)	CREBBP (A1532T +1 more)	Single nucleotide variant (missense variant)	CREBBP-related disorder	GUncertain significance
Select item 3351250	NM_004380.3(CREBBP):c.-9C>G	CREBBP, LOC130058358	Single nucleotide variant (5 prime UTR variant)	CREBBP-related disorder	GLikely benign
Select item 3351153	NM_004380.3(CREBBP):c.2075_2095del (p.Pro692_Ala698del)	CREBBP	Deletion (inframe_deletion)	CREBBP-related disorder	GUncertain significance
Select item 3350957	NM_004380.3(CREBBP):c.6369C>T (p.Ser2123=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 3350880	NM_004380.3(CREBBP):c.6011G>A (p.Arg2004Gln)	CREBBP (R1966Q +1 more)	Single nucleotide variant (missense variant)	CREBBP-related disorder	GUncertain significance
Select item 3350818	NM_004380.3(CREBBP):c.906C>T (p.Ser302=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign

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