CREB3L3[Gene Name] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 234

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC116276498, LOC121627842 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic
Select item 148645	GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3	ANKRD24, APBA3 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 145080	GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1	LOC121852974, LOC125371451 +193 more	Copy number loss	See cases	GPathogenic
Select item 60071	GRCh38/hg38 19p13.3(chr19:3554635-4690965)x1	PIP5K1C, PLIN4 +142 more	Copy number loss	See cases	GPathogenic
Select item 155547	GRCh38/hg38 19p13.3(chr19:3788727-5147354)x1	ANKRD24, ARRDC5 +150 more	Copy number loss	See cases	GLikely pathogenic
Select item 144751	GRCh38/hg38 19p13.3(chr19:3947934-5196676)x3	ANKRD24, ARRDC5 +145 more	Copy number gain	See cases	GUncertain significance
Select item 59083	GRCh38/hg38 19p13.3(chr19:4008560-4763159)x3	ANKRD24, CHAF1A +99 more	Copy number gain	See cases	GPathogenic
Select item 1228504	NC_000019.10:g.4153403A>G	CREB3L3	Single nucleotide variant	not provided	GBenign
Select item 1239511	NC_000019.10:g.4153569A>G	CREB3L3	Single nucleotide variant	not provided	GBenign
Select item 1225039	NM_032607.3(CREB3L3):c.-86G>A	CREB3L3	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2353462	NM_032607.3(CREB3L3):c.8C>T (p.Thr3Met)	CREB3L3 (T3M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2156440	NM_032607.3(CREB3L3):c.9G>A (p.Thr3=)	CREB3L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1678173	NM_032607.3(CREB3L3):c.27+2T>C	CREB3L3	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2988222	NM_032607.3(CREB3L3):c.27+17C>A	CREB3L3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1224798	NM_032607.3(CREB3L3):c.27+85T>C	CREB3L3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174301	NM_032607.3(CREB3L3):c.28-50G>A	CREB3L3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1527984	NM_032607.3(CREB3L3):c.28-9G>A	CREB3L3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1552131	NM_032607.3(CREB3L3):c.28-8C>T	CREB3L3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1619474	NM_032607.3(CREB3L3):c.28-7G>A	CREB3L3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902515	NM_032607.3(CREB3L3):c.28-4C>G	CREB3L3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2171862	NM_032607.3(CREB3L3):c.35C>T (p.Ser12Phe)	CREB3L3 (S12F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1243114	NM_032607.3(CREB3L3):c.42C>T (p.Ala14=)	CREB3L3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2482071	NM_032607.3(CREB3L3):c.49A>G (p.Met17Val)	CREB3L3 (M17V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2887219	NM_032607.3(CREB3L3):c.55C>T (p.Pro19Ser)	CREB3L3 (P19S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2186648	NM_032607.3(CREB3L3):c.60C>T (p.Ile20=)	CREB3L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2296337	NM_032607.3(CREB3L3):c.64A>C (p.Ser22Arg)	CREB3L3 (S22R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2918806	NM_032607.3(CREB3L3):c.77T>C (p.Leu26Pro)	CREB3L3 (L26P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976325	NM_032607.3(CREB3L3):c.83T>G (p.Leu28Arg)	CREB3L3 (L28R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2252477	NM_032607.3(CREB3L3):c.103G>A (p.Gly35Ser)	CREB3L3 (G35S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1907945	NM_032607.3(CREB3L3):c.118G>A (p.Val40Met)	CREB3L3 (V40M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2908635	NM_032607.3(CREB3L3):c.127G>T (p.Gly43Cys)	CREB3L3 (G43C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1943961	NM_032607.3(CREB3L3):c.130G>T (p.Glu44Ter)	CREB3L3 (E44*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2784556	NM_032607.3(CREB3L3):c.131A>G (p.Glu44Gly)	CREB3L3 (E44G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1468365	NM_032607.3(CREB3L3):c.136T>C (p.Trp46Arg)	CREB3L3 (W46R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1120264	NM_032607.3(CREB3L3):c.138G>A (p.Trp46Ter)	CREB3L3	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1591881	NM_032607.3(CREB3L3):c.153C>T (p.Asp51=)	CREB3L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1226444	NM_032607.3(CREB3L3):c.157-151G>A	CREB3L3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245604	NM_032607.3(CREB3L3):c.157-125del	CREB3L3	Deletion (intron variant)	not provided	GBenign
Select item 1230599	NM_032607.3(CREB3L3):c.157-123C>T	CREB3L3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282786	NM_032607.3(CREB3L3):c.157-111G>A	CREB3L3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263861	NM_032607.3(CREB3L3):c.157-53C>G	CREB3L3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2456985	NM_032607.3(CREB3L3):c.178T>C (p.Ser60Pro)	CREB3L3 (S59P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2416224	NM_032607.3(CREB3L3):c.183C>T (p.Asp61=)	CREB3L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1556360	NM_032607.3(CREB3L3):c.201C>T (p.Ile67=)	CREB3L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3077326	NM_032607.3(CREB3L3):c.233C>G (p.Pro78Arg)	CREB3L3 (P78R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2110424	NM_032607.3(CREB3L3):c.241del (p.Ser81fs)	CREB3L3 (S81fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2802499	NM_032607.3(CREB3L3):c.255T>C (p.Ser85=)	CREB3L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2711751	NM_032607.3(CREB3L3):c.270C>T (p.Ser90=)	CREB3L3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1638802	NM_032607.3(CREB3L3):c.270C>G (p.Ser90=)	CREB3L3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2548263	NM_032607.3(CREB3L3):c.280C>A (p.Pro94Thr)	CREB3L3 (P94T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2175338	NM_032607.3(CREB3L3):c.285C>T (p.Ser95=)	CREB3L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713691	NM_032607.3(CREB3L3):c.286G>A (p.Asp96Asn)	CREB3L3 (D96N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1494960	NM_032607.3(CREB3L3):c.294G>A (p.Gln98=)	CREB3L3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2967187	NM_032607.3(CREB3L3):c.306dup (p.Arg103fs)	CREB3L3 (R103fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2887440	NM_032607.3(CREB3L3):c.307C>T (p.Arg103Cys)	CREB3L3 (R102C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1433636	NM_032607.3(CREB3L3):c.308G>T (p.Arg103Leu)	CREB3L3 (R103L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1165837	NM_032607.3(CREB3L3):c.313G>A (p.Gly105Arg)	CREB3L3 (G104R +1 more)	Single nucleotide variant (missense variant)	Hypertriglyceridemia 2 +1 more	GBenign
Select item 2107026	NM_032607.3(CREB3L3):c.314G>A (p.Gly105Glu)	CREB3L3 (G104E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894528	NM_032607.3(CREB3L3):c.324C>G (p.Thr108=)	CREB3L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1507092	NM_032607.3(CREB3L3):c.331G>A (p.Ala111Thr)	CREB3L3 (A110T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1164184	NM_032607.3(CREB3L3):c.334G>A (p.Gly112Ser)	CREB3L3 (G111S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2078027	NM_032607.3(CREB3L3):c.341A>C (p.His114Pro)	CREB3L3 (H113P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1494744	NM_032607.3(CREB3L3):c.341A>T (p.His114Leu)	CREB3L3 (H113L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2589024	NM_032607.3(CREB3L3):c.343C>G (p.Pro115Ala)	CREB3L3 (P114A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2063424	NM_032607.3(CREB3L3):c.352C>G (p.Pro118Ala)	CREB3L3 (P117A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 845893	NM_032607.3(CREB3L3):c.352C>T (p.Pro118Ser)	CREB3L3 (P118S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1120265	NM_032607.3(CREB3L3):c.363del (p.Cys123fs)	CREB3L3 (C122fs +1 more)	Deletion (frameshift variant)	Hypertriglyceridemia 2	GPathogenic
Select item 2067214	NM_032607.3(CREB3L3):c.362G>A (p.Gly121Glu)	CREB3L3 (G121E +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1928361	NM_032607.3(CREB3L3):c.370C>T (p.Leu124Phe)	CREB3L3 (L123F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1956853	NM_032607.3(CREB3L3):c.431C>T (p.Pro144Leu)	CREB3L3 (P143L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1661509	NM_032607.3(CREB3L3):c.449T>C (p.Ile150Thr)	CREB3L3 (I149T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3077327	NM_032607.3(CREB3L3):c.455T>C (p.Leu152Pro)	CREB3L3 (L152P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1259704	NM_032607.3(CREB3L3):c.458-152C>T	CREB3L3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227063	NM_032607.3(CREB3L3):c.458-98C>G	CREB3L3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1897288	NM_032607.3(CREB3L3):c.463T>G (p.Trp155Gly)	CREB3L3 (W154G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2351208	NM_032607.3(CREB3L3):c.476G>A (p.Gly159Glu)	CREB3L3 (G158E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2138188	NM_032607.3(CREB3L3):c.497C>T (p.Pro166Leu)	CREB3L3 (P165L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2898851	NM_032607.3(CREB3L3):c.499G>A (p.Ala167Thr)	CREB3L3 (A166T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2721876	NM_032607.3(CREB3L3):c.507G>A (p.Pro169=)	CREB3L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1395266	NM_032607.3(CREB3L3):c.510G>A (p.Val170=)	CREB3L3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2731225	NM_032607.3(CREB3L3):c.511G>C (p.Asp171His)	CREB3L3 (D171H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992754	NM_032607.3(CREB3L3):c.514C>T (p.Leu172=)	CREB3L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1599163	NM_032607.3(CREB3L3):c.519C>T (p.Ser173=)	CREB3L3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1678130	NM_032607.3(CREB3L3):c.523C>T (p.Arg175Ter)	CREB3L3 (R174* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 2804468	NM_032607.3(CREB3L3):c.527G>T (p.Cys176Phe)	CREB3L3 (C175F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175624	NM_032607.3(CREB3L3):c.531T>C (p.Asn177=)	CREB3L3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1537764	NM_032607.3(CREB3L3):c.534C>T (p.Leu178=)	CREB3L3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2138189	NM_032607.3(CREB3L3):c.538G>A (p.Val180Met)	CREB3L3 (V179M +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1600091	NM_032607.3(CREB3L3):c.544G>A (p.Asp182Asn)	CREB3L3 (D181N +1 more)	Single nucleotide variant (missense variant)	Hypertriglyceridemia 2 +1 more	GBenign/Likely benign
Select item 1903376	NM_032607.3(CREB3L3):c.557C>T (p.Ser186Leu)	CREB3L3 (S186L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1442778	NM_032607.3(CREB3L3):c.573C>A (p.Asp191Glu)	CREB3L3 (D191E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2706108	NM_032607.3(CREB3L3):c.576+12del	CREB3L3	Deletion (intron variant)	not provided	GBenign
Select item 1672597	NM_032607.3(CREB3L3):c.576+17C>G	CREB3L3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2967676	NM_032607.3(CREB3L3):c.576+20C>A	CREB3L3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275930	NM_032607.3(CREB3L3):c.576+94A>G	CREB3L3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261273	NM_032607.3(CREB3L3):c.577-26C>T	CREB3L3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1930683	NM_032607.3(CREB3L3):c.577-2A>G	CREB3L3	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic

<< First< Prev

Page of 3