1387[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 58620	GRCh38/hg38 16p13.3(chr16:2717952-4041020)x3	ADCY9, BICDL2 +180 more	Copy number gain	See cases	GPathogenic
Select item 59428	GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1	ADCY9, ALG1 +262 more	Copy number loss	See cases	GPathogenic
Select item 149298	GRCh38/hg38 16p13.3(chr16:3303551-3965374)x3	ADCY9, C16orf90 +50 more	Copy number gain	See cases	GLikely pathogenic
Select item 58621	GRCh38/hg38 16p13.3(chr16:3493167-3993345)x3	ADCY9, C16orf90 +29 more	Copy number gain	See cases	GPathogenic
Select item 2499642	GRCh38/hg38 16p13.3(chr16:3499966-3774794)	CLUAP1, CREBBP +18 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 152247	GRCh38/hg38 16p13.3(chr16:3515534-3749385)x3	CLUAP1, CREBBP +15 more	Copy number gain	See cases	GUncertain significance
Select item 148879	GRCh38/hg38 16p13.3(chr16:3560564-4266796)x1	ADCY9, CREBBP +35 more	Copy number loss	See cases	GPathogenic
Select item 59429	GRCh38/hg38 16p13.3(chr16:3607087-3877320)x1	CREBBP, DNASE1 +13 more	Copy number loss	See cases	GPathogenic
Select item 1684659	NC_000016.10:g.3619617_4448281del	LOC125146386, LOC130058361 +40 more	Deletion	See cases	GPathogenic
Select item 154933	GRCh38/hg38 16p13.3(chr16:3666023-3759065)x3	CREBBP, LOC130058351 +2 more	Copy number gain	See cases	GPathogenic
Select item 148040	GRCh38/hg38 16p13.3(chr16:3666035-3767968)x1	CREBBP, LOC130058351 +2 more	Copy number loss	See cases	GPathogenic
Select item 148021	GRCh38/hg38 16p13.3(chr16:3666035-3738579)x1	CREBBP, LOC130058351 +2 more	Copy number loss	See cases	GPathogenic
Select item 58622	GRCh38/hg38 16p13.3(chr16:3680455-3741327)x3	CREBBP, LOC130058351 +2 more	Copy number gain	See cases	GPathogenic
Select item 155672	GRCh38/hg38 16p13.3(chr16:3700606-3810717)x1	CREBBP, LOC130058351 +5 more	Copy number loss	See cases	GPathogenic
Select item 57281	GRCh38/hg38 16p13.3(chr16:3710449-4644951)x3	ADCY9, C16orf96 +54 more	Copy number gain	See cases	GUncertain significance
Select item 375635	NG_009873.1:g.(?_5000)_(160068_?)del	LOC130058355, LOC130058356 +7 more	Deletion	Rubinstein-Taybi syndrome due to CREBBP mutations	GPathogenic
Select item 154437	GRCh38/hg38 16p13.3(chr16:3726702-4644961)x3	ADCY9, C16orf96 +51 more	Copy number gain	See cases	GPathogenic
Select item 145541	GRCh38/hg38 16p13.3(chr16:3726714-3759009)x1	CREBBP	Copy number loss	See cases	GPathogenic
Select item 2440542	NM_004380.3(CREBBP):c.*929A>G	CREBBP	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 522462	NM_004380.3(CREBBP):c.7261_*247delinsC (p.Ser2421_Ter2443delinsXaa)	CREBBP	Indel (stop lost)	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely pathogenic
Select item 1300180	GRCh38/hg38 16p13.3(chr16:3727580-3851110)x1	CREBBP, LOC130058353 +2 more	Copy number loss	Rubinstein-Taybi syndrome	GPathogenic
Select item 1292986	NM_004380.3(CREBBP):c.*28del	CREBBP	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1268812	NM_004380.3(CREBBP):c.*25dup	CREBBP	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1230148	NM_004380.3(CREBBP):c.*22T>C	CREBBP	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 657383	NC_000016.10:g.(?_3727698)_(4802591_?)del	LOC130058360, LOC130058361 +66 more	Deletion	Rubinstein-Taybi syndrome	GPathogenic
Select item 3347787	NM_004380.3(CREBBP):c.*7G>A	CREBBP	Single nucleotide variant (3 prime UTR variant)	CREBBP-related disorder	GLikely benign
Select item 2144842	NM_004380.3(CREBBP):c.7326G>A (p.Leu2442=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome	GBenign
Select item 1758278	NM_004380.3(CREBBP):c.7314T>C (p.Phe2438=)	CREBBP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 592092	NM_004380.3(CREBBP):c.7311G>T (p.Lys2437Asn)	CREBBP (K2437N +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 2820012	NM_004380.3(CREBBP):c.7290_7301dup (p.Thr2434_Leu2435insThrGlyAspThr)	CREBBP	Duplication (inframe_insertion)	Rubinstein-Taybi syndrome	GUncertain significance
Select item 166960	NM_004380.3(CREBBP):c.7302G>A (p.Thr2434=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome +3 more	GBenign/Likely benign
Select item 2825802	NM_004380.3(CREBBP):c.7300A>G (p.Thr2434Ala)	CREBBP (T2434A +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GUncertain significance
Select item 158401	NM_004380.3(CREBBP):c.7293G>A (p.Thr2431=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome +1 more	GLikely benign
Select item 2848185	NM_004380.3(CREBBP):c.7292C>T (p.Thr2431Met)	CREBBP (T2393M +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GLikely benign
Select item 749933	NM_004380.3(CREBBP):c.7290C>A (p.Thr2430=)	CREBBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1210051	NM_004380.3(CREBBP):c.7282G>C (p.Gly2428Arg)	CREBBP (G2390R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1980627	NM_004380.3(CREBBP):c.7281C>T (p.Val2427=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome	GBenign
Select item 1806520	NM_004380.3(CREBBP):c.7277T>A (p.Leu2426Gln)	CREBBP (L2388Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1205034	NM_004380.3(CREBBP):c.7272G>T (p.Leu2424=)	CREBBP	Single nucleotide variant (synonymous variant)	not provided +1 more	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 3351953	NM_004380.3(CREBBP):c.7266C>T (p.Ser2422=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 2863456	NM_004380.3(CREBBP):c.7266C>G (p.Ser2422Arg)	CREBBP (S2422R +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GUncertain significance
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 2141461	NM_004380.3(CREBBP):c.7257G>A (p.Ala2419=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome	GLikely benign
Select item 2066079	NM_004380.3(CREBBP):c.7256C>T (p.Ala2419Val)	CREBBP (A2419V +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome +1 more	GBenign/Likely benign
Select item 2169145	NM_004380.3(CREBBP):c.7255G>A (p.Ala2419Thr)	CREBBP (A2381T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
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 3356761	NM_004380.3(CREBBP):c.7248C>T (p.Ser2416=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 458205	NM_004380.3(CREBBP):c.7245C>T (p.Pro2415=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome	GLikely benign
Select item 2148603	NM_004380.3(CREBBP):c.7243C>T (p.Pro2415Ser)	CREBBP (P2377S +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GUncertain significance
Select item 1541782	NM_004380.3(CREBBP):c.7239C>T (p.Asn2413=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome	GLikely benign
Select item 3347288	NM_004380.3(CREBBP):c.7238A>G (p.Asn2413Ser)	CREBBP (N2375S +1 more)	Single nucleotide variant (missense variant)	CREBBP-related disorder	GUncertain significance
Select item 705723	NM_004380.3(CREBBP):c.7236G>A (p.Leu2412=)	CREBBP	Single nucleotide variant (synonymous variant)	not provided +3 more	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 3054670	NM_004380.3(CREBBP):c.7227C>T (p.Leu2409=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 2630101	NM_004380.3(CREBBP):c.7221_7225del (p.Met2408fs)	CREBBP (M2370fs +1 more)	Deletion (frameshift variant)	CREBBP-related disorder	GUncertain significance
Select item 3028935	NM_004380.3(CREBBP):c.7224G>A (p.Met2408Ile)	CREBBP (M2370I +1 more)	Single nucleotide variant (missense variant)	CREBBP-related disorder	GUncertain significance
Select item 2231442	NM_004380.3(CREBBP):c.7222A>C (p.Met2408Leu)	CREBBP (M2408L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1337141	NM_004380.3(CREBBP):c.7222A>G (p.Met2408Val)	CREBBP (M2370V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3369971	NM_004380.3(CREBBP):c.7217G>A (p.Ser2406Asn)	CREBBP (S2368N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315059	NM_004380.3(CREBBP):c.7213C>G (p.Gln2405Glu)	CREBBP (Q2367E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 95067	NM_004380.3(CREBBP):c.7212A>G (p.Glu2404=)	CREBBP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 190267	NM_004380.3(CREBBP):c.7210G>A (p.Glu2404Lys)	CREBBP (E2404K +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +2 more	GUncertain significance
Select item 1757698	NM_004380.3(CREBBP):c.7209C>T (p.Pro2403=)	CREBBP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2026319	NM_004380.3(CREBBP):c.7207C>G (p.Pro2403Ala)	CREBBP (P2365A +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GBenign
Select item 1704088	NM_004380.3(CREBBP):c.7204A>G (p.Asn2402Asp)	CREBBP (N2364D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1930123	NM_004380.3(CREBBP):c.7203G>T (p.Gly2401=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome	GLikely benign
Select item 2159137	NM_004380.3(CREBBP):c.7198T>C (p.Leu2400=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome	GBenign
Select item 1335203	NM_004380.3(CREBBP):c.7197C>T (p.His2399=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome +1 more	GLikely benign
Select item 2662465	NM_004380.3(CREBBP):c.7195C>A (p.His2399Asn)	CREBBP (H2361N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175015	NM_004380.3(CREBBP):c.7195C>T (p.His2399Tyr)	CREBBP (H2361Y +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GLikely benign
Select item 778803	NM_004380.3(CREBBP):c.7194A>G (p.Gly2398=)	CREBBP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1030788	NM_004380.3(CREBBP):c.7184T>C (p.Ile2395Thr)	CREBBP (I2395T +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +2 more	GConflicting classifications of pathogenicity
Select item 1310842	NM_004380.3(CREBBP):c.7182C>T (p.Ser2394=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome +1 more	GConflicting classifications of pathogenicity
Select item 861595	NM_004380.3(CREBBP):c.7178G>C (p.Ser2393Thr)	CREBBP (S2393T +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GUncertain significance
Select item 1810599	NM_004380.3(CREBBP):c.7177A>G (p.Ser2393Gly)	CREBBP (S2393G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3077354	NM_004380.3(CREBBP):c.7171A>G (p.Met2391Val)	CREBBP (M2391V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3029835	NM_004380.3(CREBBP):c.7164A>G (p.Ala2388=)	CREBBP	Single nucleotide variant (synonymous variant)	CREBBP-related disorder	GLikely benign
Select item 587495	NM_004380.3(CREBBP):c.7162G>A (p.Ala2388Thr)	CREBBP (A2388T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2805083	NM_004380.3(CREBBP):c.7161C>G (p.Leu2387=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome	GLikely benign
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 746434	NM_004380.3(CREBBP):c.7155C>T (p.Pro2385=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome	GLikely benign
Select item 2699575	NM_004380.3(CREBBP):c.7149C>A (p.Pro2383=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome	GLikely benign
Select item 2884202	NM_004380.3(CREBBP):c.7146C>T (p.Ser2382=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome	GLikely benign
Select item 2505618	NM_004380.3(CREBBP):c.7142G>T (p.Gly2381Val)	CREBBP (G2343V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2050465	NM_004380.3(CREBBP):c.7136A>C (p.Gln2379Pro)	CREBBP (Q2341P +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GUncertain significance
Select item 3032053	NM_004380.3(CREBBP):c.7126G>A (p.Val2376Ile)	CREBBP (V2338I +1 more)	Single nucleotide variant (missense variant)	CREBBP-related disorder	GUncertain significance
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
Select item 2916643	NM_004380.3(CREBBP):c.7123C>T (p.His2375Tyr)	CREBBP (H2375Y +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GUncertain significance
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 1654896	NM_004380.3(CREBBP):c.7116G>A (p.Ser2372=)	CREBBP	Single nucleotide variant (synonymous variant)	Menke-Hennekam syndrome 1 +2 more	GLikely benign
Select item 2614852	NM_004380.3(CREBBP):c.7115C>T (p.Ser2372Leu)	CREBBP (S2372L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2910741	NM_004380.3(CREBBP):c.7111C>A (p.Pro2371Thr)	CREBBP (P2371T +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GUncertain significance
Select item 1313688	NM_004380.3(CREBBP):c.7110G>T (p.Gln2370His)	CREBBP (Q2332H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2845916	NM_004380.3(CREBBP):c.7107C>G (p.Pro2369=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome	GLikely benign

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