ClinVar for Gene (Select 90993) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359262	NM_052854.4(CREB3L1):c.1259-7_1267del	CREB3L1	Deletion (splice acceptor variant)	Osteogenesis imperfecta type 16	GLikely pathogenic
Select item 3269447	NM_052854.4(CREB3L1):c.1040T>C (p.Leu347Pro)	CREB3L1 (L347P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3269445	NM_052854.4(CREB3L1):c.1187A>G (p.Glu396Gly)	CREB3L1 (E396G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251716	NM_052854.4(CREB3L1):c.903+11C>A	CREB3L1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3251573	NM_052854.4(CREB3L1):c.1467C>T (p.Asp489=)	CREB3L1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3077314	NM_052854.4(CREB3L1):c.831C>G (p.Ile277Met)	CREB3L1 (I189M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 3077310	NM_052854.4(CREB3L1):c.1198G>A (p.Gly400Ser)	CREB3L1 (G312S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3077309	NM_052854.4(CREB3L1):c.1186G>A (p.Glu396Lys)	CREB3L1 (E308K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057475	NM_052854.4(CREB3L1):c.1284C>T (p.Tyr428=)	CREB3L1	Single nucleotide variant (synonymous variant)	CREB3L1-related disorder	GLikely benign
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 3052174	NM_052854.4(CREB3L1):c.516+4A>G	CREB3L1	Single nucleotide variant (intron variant)	CREB3L1-related disorder	GLikely benign
Select item 3016909	NM_052854.4(CREB3L1):c.1446G>A (p.Leu482=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010247	NM_052854.4(CREB3L1):c.1002G>A (p.Lys334=)	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 2987830	NM_052854.4(CREB3L1):c.1224C>T (p.Pro408=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967545	NM_052854.4(CREB3L1):c.924T>G (p.Arg308=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962360	NM_052854.4(CREB3L1):c.802C>T (p.Arg268Trp)	CREB3L1 (R266W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956968	NM_052854.4(CREB3L1):c.1170C>T (p.Leu390=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956810	NM_052854.4(CREB3L1):c.969G>A (p.Glu323=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2908289	NM_052854.4(CREB3L1):c.1032-4T>G	CREB3L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2900882	NM_052854.4(CREB3L1):c.1258+10C>T	CREB3L1	Single nucleotide variant (intron 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 2896370	NM_052854.4(CREB3L1):c.735A>G (p.Pro245=)	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 2857894	NM_052854.4(CREB3L1):c.1226del (p.Leu409fs)	CREB3L1 (L409fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2853849	NM_052854.4(CREB3L1):c.753+14G>C	CREB3L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2832700	NM_052854.4(CREB3L1):c.1131+18C>A	CREB3L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788702	NM_052854.4(CREB3L1):c.904-7C>T	CREB3L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2747511	NM_052854.4(CREB3L1):c.501G>A (p.Leu167=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2717610	NM_052854.4(CREB3L1):c.1524-17C>T	CREB3L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2711412	NM_052854.4(CREB3L1):c.753+14G>A	CREB3L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2629659	NM_052854.4(CREB3L1):c.749del (p.Pro250fs)	CREB3L1 (P250fs)	Deletion (frameshift variant)	CREB3L1-related disorder	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 2582893	NM_052854.4(CREB3L1):c.453C>A (p.Ala151=)	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 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 2535383	NM_052854.4(CREB3L1):c.133G>A (p.Glu45Lys)	CREB3L1 (E45K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2494846	NM_052854.4(CREB3L1):c.652G>A (p.Gly218Ser)	CREB3L1 (G218S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2440540	NM_052854.4(CREB3L1):c.627del (p.Ser210fs)	CREB3L1 (S210fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type 16	GUncertain significance
Select item 2427144	NC_000011.9:g.(?_46299663)_(46342296_?)dup	CREB3L1	Duplication	not provided	GUncertain significance
Select item 2426467	NC_000011.9:g.(?_45827353)_(47804770_?)del	ACP2, AGBL2 +40 more	Deletion	Leukocyte adhesion deficiency type II	GPathogenic
Select item 2421408	NM_052854.4(CREB3L1):c.912C>T (p.Ala304=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2420996	NM_052854.4(CREB3L1):c.1171G>A (p.Val391Met)	CREB3L1 (V391M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414353	NM_052854.4(CREB3L1):c.1110C>G (p.Thr370=)	CREB3L1	Single nucleotide variant (synonymous 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 2404798	NM_052854.4(CREB3L1):c.440T>A (p.Met147Lys)	CREB3L1 (M147K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390497	NM_052854.4(CREB3L1):c.1205A>G (p.Gln402Arg)	CREB3L1 (Q402R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389668	NM_052854.4(CREB3L1):c.1504A>C (p.Lys502Gln)	CREB3L1 (K502Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385280	NM_052854.4(CREB3L1):c.635A>G (p.His212Arg)	CREB3L1 (H212R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 16 +1 more	GConflicting classifications of pathogenicity
Select item 2376329	NM_052854.4(CREB3L1):c.667C>T (p.Arg223Cys)	CREB3L1 (R223C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 16 +2 more	GUncertain significance
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 2359216	NM_052854.4(CREB3L1):c.458T>G (p.Met153Arg)	CREB3L1 (M153R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2287227	NM_052854.4(CREB3L1):c.1268G>A (p.Arg423Gln)	CREB3L1 (R423Q)	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 2236532	NM_052854.4(CREB3L1):c.1394A>C (p.Asp465Ala)	CREB3L1 (D465A)	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 2204891	NM_052854.4(CREB3L1):c.184C>T (p.Pro62Ser)	CREB3L1 (P62S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2194302	NM_052854.4(CREB3L1):c.1161G>A (p.Leu387=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2193150	NM_052854.4(CREB3L1):c.447C>T (p.Ala149=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2191126	NM_052854.4(CREB3L1):c.1506G>A (p.Lys502=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2189006	NM_052854.4(CREB3L1):c.1150G>T (p.Val384Phe)	CREB3L1 (V384F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2187384	NM_052854.4(CREB3L1):c.1373C>T (p.Pro458Leu)	CREB3L1 (P458L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2183187	NM_052854.4(CREB3L1):c.602T>C (p.Leu201Pro)	CREB3L1 (L201P)	Single nucleotide variant (missense variant)	not provided	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 2172786	NM_052854.4(CREB3L1):c.1388C>T (p.Pro463Leu)	CREB3L1 (P463L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2172740	NM_052854.4(CREB3L1):c.387G>A (p.Lys129=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2172536	NM_052854.4(CREB3L1):c.1334T>C (p.Met445Thr)	CREB3L1 (M445T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170272	NM_052854.4(CREB3L1):c.354G>A (p.Ala118=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2148278	NM_052854.4(CREB3L1):c.522G>A (p.Pro174=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2126429	NM_052854.4(CREB3L1):c.899A>G (p.Asn300Ser)	CREB3L1 (N300S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2118415	NM_052854.4(CREB3L1):c.332-5C>A	CREB3L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2111037	NM_052854.4(CREB3L1):c.1076A>G (p.Asn359Ser)	CREB3L1 (N359S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2109058	NM_052854.4(CREB3L1):c.903+14C>T	CREB3L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2108864	NM_052854.4(CREB3L1):c.1259-34_1259-16del	CREB3L1	Deletion (intron variant)	not provided	GUncertain significance
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 2107475	NM_052854.4(CREB3L1):c.621G>T (p.Thr207=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2106904	NM_052854.4(CREB3L1):c.1523+13G>A	CREB3L1	Single nucleotide variant (intron variant)	not provided	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 2105390	NM_052854.4(CREB3L1):c.103-18C>T	CREB3L1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2101206	NM_052854.4(CREB3L1):c.820G>T (p.Gly274Cys)	CREB3L1 (G274C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2098607	NM_052854.4(CREB3L1):c.923G>T (p.Arg308Leu)	CREB3L1 (R308L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2095312	NM_052854.4(CREB3L1):c.1370G>C (p.Gly457Ala)	CREB3L1 (G457A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2091227	NM_052854.4(CREB3L1):c.640A>T (p.Ser214Cys)	CREB3L1 (S214C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2083014	NM_052854.4(CREB3L1):c.621G>A (p.Thr207=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2076962	NM_052854.4(CREB3L1):c.1239C>G (p.Gly413=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2071160	NM_052854.4(CREB3L1):c.1452G>C (p.Glu484Asp)	CREB3L1 (E484D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2069246	NM_052854.4(CREB3L1):c.1551A>G (p.Lys517=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2068663	NM_052854.4(CREB3L1):c.1317C>T (p.Arg439=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2064313	NM_052854.4(CREB3L1):c.617C>T (p.Pro206Leu)	CREB3L1 (P206L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2061431	NM_052854.4(CREB3L1):c.1466A>G (p.Asp489Gly)	CREB3L1 (D489G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2060080	NM_052854.4(CREB3L1):c.1477G>A (p.Gly493Ser)	CREB3L1 (G493S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2039256	NM_052854.4(CREB3L1):c.331+18C>T	CREB3L1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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