CREB3L2[gene] - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	TRBC2, TRBD1 +455 more	Copy number loss	See cases	GPathogenic
Select item 60297	GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1	ADCK2, AGK +373 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 60298	GRCh38/hg38 7q33-34(chr7:137741740-139688885)x1	AKR1D1, ATP6V0A4 +88 more	Copy number loss	See cases	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 3077319	NM_194071.4(CREB3L2):c.1492A>G (p.Ser498Gly)	CREB3L2 (S435G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388918	NM_194071.4(CREB3L2):c.1490T>A (p.Val497Asp)	CREB3L2 (V434D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077318	NM_194071.4(CREB3L2):c.1441G>A (p.Glu481Lys)	CREB3L2 (E418K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077317	NM_194071.4(CREB3L2):c.1406C>T (p.Pro469Leu)	CREB3L2 (P406L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528722	NM_194071.4(CREB3L2):c.1354G>A (p.Gly452Ser)	CREB3L2 (G389S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517991	NM_194071.4(CREB3L2):c.1331C>T (p.Pro444Leu)	CREB3L2 (P381L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357532	NM_194071.4(CREB3L2):c.1313C>T (p.Pro438Leu)	CREB3L2 (P375L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2281377	NM_194071.4(CREB3L2):c.1312C>A (p.Pro438Thr)	CREB3L2 (P438T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306321	NM_194071.4(CREB3L2):c.1304A>G (p.His435Arg)	CREB3L2 (H372R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611615	NM_194071.4(CREB3L2):c.1267G>A (p.Val423Met)	CREB3L2 (V360M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224394	NM_194071.4(CREB3L2):c.1193A>G (p.Tyr398Cys)	CREB3L2 (Y335C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269452	NM_194071.4(CREB3L2):c.1174G>A (p.Gly392Ser)	CREB3L2 (G329S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277564	NM_194071.4(CREB3L2):c.1165G>A (p.Val389Ile)	CREB3L2 (V326I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255418	NM_194071.4(CREB3L2):c.1103C>T (p.Thr368Ile)	CREB3L2 (T368I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077316	NM_194071.4(CREB3L2):c.1067A>G (p.Lys356Arg)	CREB3L2 (K356R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546470	NM_194071.4(CREB3L2):c.1044G>C (p.Arg348Ser)	CREB3L2 (R285S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269453	NM_194071.4(CREB3L2):c.911A>G (p.Asn304Ser)	CREB3L2 (N241S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269454	NM_194071.4(CREB3L2):c.896G>A (p.Arg299Gln)	CREB3L2 (R236Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077324	NM_194071.4(CREB3L2):c.758C>T (p.Thr253Met)	CREB3L2 (T190M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516286	NM_194071.4(CREB3L2):c.722G>A (p.Arg241Gln)	CREB3L2 (R178Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341966	NM_194071.4(CREB3L2):c.707C>G (p.Ser236Cys)	CREB3L2 (S236C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269448	NM_194071.4(CREB3L2):c.673C>T (p.His225Tyr)	CREB3L2 (H225Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229772	NM_194071.4(CREB3L2):c.620C>T (p.Pro207Leu)	CREB3L2 (P144L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269451	NM_194071.4(CREB3L2):c.593A>G (p.Asp198Gly)	CREB3L2 (D135G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351529	NM_194071.4(CREB3L2):c.452C>A (p.Thr151Asn)	CREB3L2 (T88N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250066	NM_194071.4(CREB3L2):c.415G>A (p.Val139Ile)	CREB3L2 (V139I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077322	NM_194071.4(CREB3L2):c.325G>A (p.Val109Met)	CREB3L2 (V46M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077321	NM_194071.4(CREB3L2):c.290A>G (p.His97Arg)	CREB3L2 (H34R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478895	NM_194071.4(CREB3L2):c.278C>G (p.Ser93Trp)	CREB3L2 (S30W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077320	NM_194071.4(CREB3L2):c.269G>A (p.Arg90Gln)	CREB3L2 (R90Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591339	NM_194071.4(CREB3L2):c.268C>T (p.Arg90Trp)	CREB3L2 (R27W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367787	NM_194071.4(CREB3L2):c.92T>A (p.Met31Lys)	CREB3L2 (M31K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269450	NM_194071.4(CREB3L2):c.49A>G (p.Lys17Glu)	CREB3L2 (K17E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062992	GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1	AASS, AGBL3 +100 more	Copy number loss	not specified	GPathogenic
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	CTAGE6, CTAGE8 +141 more	Deletion	not provided	GPathogenic
Select item 1807754	GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1	RAB19, RNY1 +123 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527403	GRCh37/hg19 7q33(chr7:136876370-137804126)	AKR1D1, CREB3L2 +2 more	Copy number loss	not specified	GUncertain significance
Select item 1527395	GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)	CHCHD3, CHRM2 +88 more	Copy number loss	not specified	GPathogenic
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1340568	GRCh37/hg19 7q33-34(chr7:137633442-138213453)x3	AKR1D1, CREB3L2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1330183	GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1	EPHA1, EPHB6 +105 more	Copy number loss	Hypertelorism +7 more	GPathogenic
Select item 979800	GRCh37/hg19 7q33(chr7:137179553-137624697)x3	DGKI, CREB3L2	Copy number gain	not provided	GUncertain significance
Select item 979796	GRCh37/hg19 7q33(chr7:137658677-137982831)x3	AKR1D1, CREB3L2	Copy number gain	not provided	GUncertain significance
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815042	GRCh37/hg19 7q33-34(chr7:135677938-139810886)x1	TRIM24, PARP12 +20 more	Copy number loss	not provided	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 689118	GRCh37/hg19 7q33(chr7:134648448-137942208)x1	AGBL3, AKR1D1 +16 more	Copy number loss	not provided	GUncertain significance
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	GPathogenic
Select item 688753	GRCh37/hg19 7q33(chr7:137183506-137611567)x3	CREB3L2, DGKI	Copy number gain	not provided	GUncertain significance
Select item 688112	GRCh37/hg19 7q33(chr7:137180374-137611567)x3	CREB3L2, DGKI	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 685702	GRCh37/hg19 7q33-34(chr7:137675423-139084024)x1	AKR1D1, ATP6V0A4 +12 more	Copy number loss	not provided	GUncertain significance
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 617479	Single allele	DGKI, SVOPL +74 more	Complex	Renal transitional cell carcinoma	GLikely pathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563417	GRCh37/hg19 7q33(chr7:133230189-137972605)x1	AKR1B10, STRA8 +24 more	Copy number loss	not provided	GPathogenic
Select item 443705	GRCh37/hg19 7q33-34(chr7:137434852-140349546)x3	AKR1D1, ATP6V0A4 +22 more	Copy number gain	See cases	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 441751	GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3	DGKI, DNAJB6 +166 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395363	GRCh37/hg19 7q32.3-34(chr7:131642114-139107211)x1	AGBL3, AKR1B1 +38 more	Copy number loss	See cases	GPathogenic

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Items: 83