CREB3L1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	ACCS, ACCSL +225 more	Copy number loss	See cases	GPathogenic
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +265 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +259 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +255 more	Copy number gain	See cases	GLikely pathogenic
Select item 1194168	NC_000011.10:g.46277541A>C	CREB3L1	Single nucleotide variant	not provided	GLikely benign
Select item 1252760	NM_052854.4(CREB3L1):c.-354C>G	CREB3L1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1986839	NM_052854.4(CREB3L1):c.9C>A (p.Ala3=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1983375	NM_052854.4(CREB3L1):c.20C>A (p.Pro7His)	CREB3L1 (P7H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1960966	NM_052854.4(CREB3L1):c.27G>A (p.Pro9=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2900395	NM_052854.4(CREB3L1):c.33C>T (p.Asp11=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1641005	NM_052854.4(CREB3L1):c.36G>A (p.Arg12=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002281	NM_052854.4(CREB3L1):c.45C>T (p.Pro15=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 432650	NM_052854.4(CREB3L1):c.46G>T (p.Gly16Ter)	CREB3L1 (G16*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1661868	NM_052854.4(CREB3L1):c.63C>T (p.Asp21=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2107879	NM_052854.4(CREB3L1):c.67G>C (p.Gly23Arg)	CREB3L1 (G23R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1604743	NM_052854.4(CREB3L1):c.78C>T (p.Asn26=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1551356	NM_052854.4(CREB3L1):c.102+8G>A	CREB3L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1600825	NM_052854.4(CREB3L1):c.103-3454C>G	CREB3L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232641	NM_052854.4(CREB3L1):c.103-251C>G	CREB3L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2105390	NM_052854.4(CREB3L1):c.103-18C>T	CREB3L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1990827	NM_052854.4(CREB3L1):c.104A>G (p.His35Arg)	CREB3L1 (H35R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2920975	NM_052854.4(CREB3L1):c.132G>A (p.Thr44=)	CREB3L1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 16	GLikely benign
Select item 2535383	NM_052854.4(CREB3L1):c.133G>A (p.Glu45Lys)	CREB3L1 (E45K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204891	NM_052854.4(CREB3L1):c.184C>T (p.Pro62Ser)	CREB3L1 (P62S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1519917	NM_052854.4(CREB3L1):c.211T>A (p.Leu71Met)	CREB3L1 (L71M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1417122	NM_052854.4(CREB3L1):c.236C>T (p.Thr79Met)	CREB3L1 (T79M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2613591	NM_052854.4(CREB3L1):c.238C>T (p.Pro80Ser)	CREB3L1 (P80S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1669169	NM_052854.4(CREB3L1):c.252G>A (p.Ala84=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888894	NM_052854.4(CREB3L1):c.261C>T (p.Ser87=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1925168	NM_052854.4(CREB3L1):c.272G>C (p.Ser91Thr)	CREB3L1 (S91T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1544894	NM_052854.4(CREB3L1):c.273C>T (p.Ser91=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1212034	NM_052854.4(CREB3L1):c.274G>A (p.Gly92Ser)	CREB3L1 (G92S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1391728	NM_052854.4(CREB3L1):c.276C>T (p.Gly92=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1357684	NM_052854.4(CREB3L1):c.277G>A (p.Asp93Asn)	CREB3L1 (D93N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1423517	NM_052854.4(CREB3L1):c.284C>T (p.Ala95Val)	CREB3L1 (A95V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 16 +2 more	GUncertain significance
Select item 1957711	NM_052854.4(CREB3L1):c.291G>A (p.Gln97=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723557	NM_052854.4(CREB3L1):c.294C>T (p.Ser98=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2032920	NM_052854.4(CREB3L1):c.312G>A (p.Lys104=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1641039	NM_052854.4(CREB3L1):c.331+17C>A	CREB3L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2039256	NM_052854.4(CREB3L1):c.331+18C>T	CREB3L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233212	NM_052854.4(CREB3L1):c.331+113A>C	CREB3L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1988115	NM_052854.4(CREB3L1):c.332-13C>T	CREB3L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2118415	NM_052854.4(CREB3L1):c.332-5C>A	CREB3L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1934462	NM_052854.4(CREB3L1):c.332A>T (p.Asp111Val)	CREB3L1 (D111V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1994160	NM_052854.4(CREB3L1):c.335C>T (p.Ala112Val)	CREB3L1 (A112V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2513866	NM_052854.4(CREB3L1):c.353C>T (p.Ala118Val)	CREB3L1 (A118V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2170272	NM_052854.4(CREB3L1):c.354G>A (p.Ala118=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1927577	NM_052854.4(CREB3L1):c.354G>T (p.Ala118=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 762396	NM_052854.4(CREB3L1):c.357G>A (p.Leu119=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2172740	NM_052854.4(CREB3L1):c.387G>A (p.Lys129=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1440901	NM_052854.4(CREB3L1):c.401C>G (p.Pro134Arg)	CREB3L1 (P134R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1442319	NM_052854.4(CREB3L1):c.402G>A (p.Pro134=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1656567	NM_052854.4(CREB3L1):c.411C>T (p.Pro137=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3077311	NM_052854.4(CREB3L1):c.418C>T (p.Pro140Ser)	CREB3L1 (P138S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1650183	NM_052854.4(CREB3L1):c.429C>T (p.Ala143=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2365147	NM_052854.4(CREB3L1):c.434C>T (p.Ser145Leu)	CREB3L1 (S145L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1204971	NM_052854.4(CREB3L1):c.435G>A (p.Ser145=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2404798	NM_052854.4(CREB3L1):c.440T>A (p.Met147Lys)	CREB3L1 (M147K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3056852	NM_052854.4(CREB3L1):c.444T>G (p.Ala148=)	CREB3L1	Single nucleotide variant (synonymous variant)	CREB3L1-related disorder	GLikely benign
Select item 2326596	NM_052854.4(CREB3L1):c.445G>C (p.Ala149Pro)	CREB3L1 (A149P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212248	NM_052854.4(CREB3L1):c.446C>A (p.Ala149Asp)	CREB3L1 (A149D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2193150	NM_052854.4(CREB3L1):c.447C>T (p.Ala149=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1396967	NM_052854.4(CREB3L1):c.448G>A (p.Ala150Thr)	CREB3L1 (A150T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2470577	NM_052854.4(CREB3L1):c.449C>T (p.Ala150Val)	CREB3L1 (A150V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1541243	NM_052854.4(CREB3L1):c.450G>A (p.Ala150=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3269446	NM_052854.4(CREB3L1):c.451G>T (p.Ala151Ser)	CREB3L1 (A151S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582893	NM_052854.4(CREB3L1):c.453C>A (p.Ala151=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1933822	NM_052854.4(CREB3L1):c.453C>T (p.Ala151=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1206040	NM_052854.4(CREB3L1):c.454G>A (p.Ala152Thr)	CREB3L1 (A152T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2083658	NM_052854.4(CREB3L1):c.457A>T (p.Met153Leu)	CREB3L1 (M153L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2359216	NM_052854.4(CREB3L1):c.458T>G (p.Met153Arg)	CREB3L1 (M153R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1569640	NM_052854.4(CREB3L1):c.463A>C (p.Thr155Pro)	CREB3L1 (T155P)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 2106793	NM_052854.4(CREB3L1):c.465C>T (p.Thr155=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1440939	NM_052854.4(CREB3L1):c.472C>G (p.Leu158Val)	CREB3L1 (L158V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3077313	NM_052854.4(CREB3L1):c.486C>A (p.Ser162Arg)	CREB3L1 (S160R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242053	NM_052854.4(CREB3L1):c.488C>T (p.Pro163Leu)	CREB3L1 (P163L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 432652	NM_052854.4(CREB3L1):c.488C>G (p.Pro163Arg)	CREB3L1 (P163R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 16 +1 more	GUncertain significance
Select item 1409945	NM_052854.4(CREB3L1):c.494C>T (p.Ser165Phe)	CREB3L1 (S165F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2747511	NM_052854.4(CREB3L1):c.501G>A (p.Leu167=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1377680	NM_052854.4(CREB3L1):c.506T>C (p.Ile169Thr)	CREB3L1 (I169T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2559118	NM_052854.4(CREB3L1):c.508C>T (p.Pro170Ser)	CREB3L1 (P170S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1351439	NM_052854.4(CREB3L1):c.512A>C (p.His171Pro)	CREB3L1 (H171P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3052174	NM_052854.4(CREB3L1):c.516+4A>G	CREB3L1	Single nucleotide variant (intron variant)	CREB3L1-related disorder	GLikely benign
Select item 723525	NM_052854.4(CREB3L1):c.516+9G>A	CREB3L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231593	NM_052854.4(CREB3L1):c.516+197G>A	CREB3L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206703	NM_052854.4(CREB3L1):c.516+234C>T	CREB3L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245927	NM_052854.4(CREB3L1):c.516+284A>G	CREB3L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212203	NM_052854.4(CREB3L1):c.516+287A>G	CREB3L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234722	NM_052854.4(CREB3L1):c.517-178G>T	CREB3L1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2018673	NM_052854.4(CREB3L1):c.517-17G>A	CREB3L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2413462	NM_052854.4(CREB3L1):c.517-3C>T	CREB3L1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1407134	NM_052854.4(CREB3L1):c.521C>T (p.Pro174Leu)	CREB3L1 (P174L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2148278	NM_052854.4(CREB3L1):c.522G>A (p.Pro174=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2581496	NM_052854.4(CREB3L1):c.523G>A (p.Gly175Arg)	CREB3L1 (G175R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2181904	NM_052854.4(CREB3L1):c.526G>A (p.Glu176Lys)	CREB3L1 (E176K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1366867	NM_052854.4(CREB3L1):c.532A>G (p.Thr178Ala)	CREB3L1 (T178A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1384575	NM_052854.4(CREB3L1):c.565G>A (p.Glu189Lys)	CREB3L1 (E189K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1574569	NM_052854.4(CREB3L1):c.595+13A>G	CREB3L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203517	NM_052854.4(CREB3L1):c.595+180T>G	CREB3L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242688	NM_052854.4(CREB3L1):c.595+189TTTG[7]	CREB3L1	Microsatellite (intron variant)	not provided	GBenign

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