CREB5[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	ABCB5, ADCYAP1R1 +387 more	Copy number loss	See cases	GPathogenic
Select item 1691115	NM_182898.4(CREB5):c.76-2060G>T	CREB5	Single nucleotide variant (intron variant)	Vascular endothelial growth factor (VEGF) inhibitor response	Gassociation
Select item 3077335	NM_182898.4(CREB5):c.76C>T (p.Arg26Cys)	CREB5 (R19C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458270	NM_182898.4(CREB5):c.299C>T (p.Ser100Leu)	CREB5 (S100L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598943	NM_182898.4(CREB5):c.329C>T (p.Thr110Met)	CREB5 (T110M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404672	NM_182898.4(CREB5):c.337G>A (p.Gly113Arg)	CREB5 (G80R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550403	NM_182898.4(CREB5):c.365T>A (p.Leu122Gln)	CREB5 (L122Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473786	NM_182898.4(CREB5):c.372C>G (p.Asn124Lys)	CREB5 (N91K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077332	NM_182898.4(CREB5):c.413C>T (p.Pro138Leu)	CREB5 (P105L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077333	NM_182898.4(CREB5):c.421A>T (p.Ser141Cys)	CREB5 (S141C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077334	NM_182898.4(CREB5):c.454C>T (p.Arg152Cys)	CREB5 (R152C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393628	NM_182898.4(CREB5):c.599G>A (p.Arg200Gln)	CREB5 (R167Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482603	NM_182898.4(CREB5):c.662C>A (p.Ala221Asp)	CREB5 (A214D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617814	NM_182898.4(CREB5):c.682A>G (p.Met228Val)	CREB5 (M228V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461683	NM_182898.4(CREB5):c.754A>G (p.Met252Val)	CREB5 (M113V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382228	NM_182898.4(CREB5):c.785T>C (p.Met262Thr)	CREB5 (M255T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524105	NM_182898.4(CREB5):c.794G>A (p.Arg265Gln)	CREB5 (R126Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077336	NM_182898.4(CREB5):c.833C>T (p.Pro278Leu)	CREB5 (P139L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077337	NM_182898.4(CREB5):c.890C>T (p.Pro297Leu)	CREB5 (P158L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409882	NM_182898.4(CREB5):c.907C>A (p.Pro303Thr)	CREB5 (P270T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472619	NM_182898.4(CREB5):c.1090G>T (p.Gly364Trp)	CREB5 (G331W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334923	NM_182898.4(CREB5):c.1097G>T (p.Arg366Leu)	CREB5 (R366L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077329	NM_182898.4(CREB5):c.1192G>T (p.Val398Phe)	CREB5 (V259F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077330	NM_182898.4(CREB5):c.1295A>G (p.Lys432Arg)	CREB5 (K432R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3077331	NM_182898.4(CREB5):c.1462G>A (p.Val488Met)	CREB5 (V455M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062983	GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1	ABCB5, CBX3 +75 more	Copy number loss	not specified	GPathogenic
Select item 1809379	GRCh37/hg19 7p15.2-14.3(chr7:27133786-34466477)x1	ADCYAP1R1, AQP1 +50 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 1703687	GRCh37/hg19 7p15.3-14.3(chr7:25451740-33864069)	ADCYAP1R1, AQP1 +55 more	Copy number loss	Cyclical vomiting syndrome	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527345	GRCh37/hg19 7p15.2-14.1(chr7:27507832-39072473)	ADCYAP1R1, AMPH +53 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527336	GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	ABCB5, ADCYAP1R1 +117 more	Copy number gain	not specified	GLikely pathogenic
Select item 814949	GRCh37/hg19 7p15.1-14.3(chr7:28487175-32037495)x3	GHRHR, INMT +22 more	Copy number gain	not provided	GLikely pathogenic
Select item 814947	GRCh37/hg19 7p15.3-14.3(chr7:23877135-33139446)x1	FKBP14, HNRNPA2B1 +61 more	Copy number loss	not provided	GPathogenic
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 687309	GRCh37/hg19 7p15.2-15.1(chr7:27856093-28475166)x3	CREB5, JAZF1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 599189	NC_000007.13:g.23236782_30690453del7453672	NFE2L3, NOD1 +53 more	Deletion	Silver Russell Syndrome-related disorder	GPathogenic
Select item 443816	GRCh37/hg19 7p15.2-14.3(chr7:27720090-29219094)x3	CPVL, CREB5 +3 more	Copy number gain	See cases	GUncertain significance
Select item 443815	GRCh37/hg19 7p15.3-14.3(chr7:24344104-28879357)x1	CBX3, CREB5 +31 more	Copy number loss	See cases	GPathogenic
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 442824	GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	ABCB5, ACTB +158 more	Copy number gain	See cases	GPathogenic
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	RP9, SCIN +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395204	GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3	ABCB5, ADCYAP1R1 +119 more	Copy number gain	See cases	GPathogenic
Select item 253643	GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1	ADCYAP1R1, AQP1 +68 more	Copy number loss	See cases	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 50