CBR4[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 772

<< First< Prev

Page of 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 153493	GRCh38/hg38 4q32.1-33(chr4:155162982-170959553)x1	AADAT, ANP32C +243 more	Copy number loss	See cases	GPathogenic
Select item 152441	GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3	AADAT, ACSL1 +553 more	Copy number gain	See cases	GPathogenic
Select item 57053	GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3	MTNR1A, NAF1 +535 more	Copy number gain	See cases	GPathogenic
Select item 59484	GRCh38/hg38 4q32.2-34.1(chr4:162723818-172501433)x1	AADAT, ANP32C +158 more	Copy number loss	See cases	GPathogenic
Select item 59505	GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1	LOC129993482, LOC129993483 +509 more	Copy number loss	See cases	GPathogenic
Select item 151716	GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1	LOC129993424, LOC129993425 +485 more	Copy number loss	See cases	GPathogenic
Select item 148458	GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1	MIR4455, MIR548T +466 more	Copy number loss	See cases	GPathogenic
Select item 153168	GRCh38/hg38 4q32.3-34.3(chr4:166630207-179820960)	AADAT, ADAM29 +178 more	Copy number loss	See cases	GPathogenic
Select item 153653	GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1	LOC129993469, LOC129993470 +455 more	Copy number loss	See cases	GPathogenic
Select item 155164	GRCh38/hg38 4q32.3-33(chr4:167469096-170889588)x3	AADAT, ANXA10 +69 more	Copy number gain	See cases	GUncertain significance
Select item 155264	GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3	LOC129993480, LOC129993481 +451 more	Copy number gain	See cases	GPathogenic
Select item 155558	GRCh38/hg38 4q32.3-33(chr4:168140014-170186711)x3	AADAT, ANXA10 +58 more	Copy number gain	See cases	GLikely pathogenic
Select item 2096261	NM_001166108.2(PALLD):c.2101-20T>G	CBR4, PALLD	Single nucleotide variant (intron variant)	Pancreatic adenocarcinoma	GLikely benign
Select item 2912553	NM_001166108.2(PALLD):c.2101-11dup	CBR4, PALLD	Duplication (intron variant)	Pancreatic adenocarcinoma	GLikely benign
Select item 1659535	NM_001166108.2(PALLD):c.2101-11_2101-10del	CBR4, PALLD	Deletion (intron variant)	Pancreatic adenocarcinoma	GLikely benign
Select item 700787	NM_001166108.2(PALLD):c.2101-10C>T	CBR4, PALLD	Single nucleotide variant (intron variant)	Pancreatic adenocarcinoma	GLikely benign
Select item 702216	NM_001166108.2(PALLD):c.2101-6_2101-4del	PALLD, CBR4	Microsatellite (intron variant)	Pancreatic adenocarcinoma	GLikely benign
Select item 136010	NM_001166108.2(PALLD):c.2101-9G>A	CBR4, PALLD	Single nucleotide variant (intron variant)	PALLD-related disorder +1 more	GLikely benign
Select item 1473795	NM_001166108.2(PALLD):c.2101-3T>C	CBR4, PALLD	Single nucleotide variant (intron variant)	Pancreatic adenocarcinoma	GUncertain significance
Select item 416231	NM_001166108.2(PALLD):c.2112C>T (p.Tyr704=)	CBR4, PALLD	Single nucleotide variant (synonymous variant +1 more)	Pancreatic adenocarcinoma +2 more	GLikely benign
Select item 1786143	NM_001166108.2(PALLD):c.2113G>A (p.Glu705Lys)	CBR4, PALLD (E323K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1786180	NM_001166108.2(PALLD):c.2116G>A (p.Glu706Lys)	CBR4, PALLD (E706K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304085	NM_001166108.2(PALLD):c.2117A>G (p.Glu706Gly)	CBR4, PALLD (E219G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2718087	NM_001166108.2(PALLD):c.2120G>C (p.Arg707Thr)	CBR4, PALLD (R325T +2 more)	Single nucleotide variant (missense variant +1 more)	Pancreatic adenocarcinoma	GUncertain significance
Select item 2448500	NM_001166108.2(PALLD):c.2123T>A (p.Met708Lys)	CBR4, PALLD (M1K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1424163	NM_001166108.2(PALLD):c.2125G>A (p.Ala709Thr)	CBR4, PALLD (A709T +3 more)	Single nucleotide variant (missense variant)	Pancreatic adenocarcinoma	GUncertain significance
Select item 1786345	NM_001166108.2(PALLD):c.2128C>T (p.Arg710Cys)	CBR4, PALLD (R3C +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1786357	NM_001166108.2(PALLD):c.2129G>A (p.Arg710His)	CBR4, PALLD (R223H +3 more)	Single nucleotide variant (missense variant)	Pancreatic adenocarcinoma +1 more	GUncertain significance
Select item 1786401	NM_001166108.2(PALLD):c.2130T>A (p.Arg710=)	CBR4, PALLD	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 220716	NM_001166108.2(PALLD):c.2130T>C (p.Arg710=)	CBR4, PALLD	Single nucleotide variant (synonymous variant)	Pancreatic adenocarcinoma +1 more	GLikely benign
Select item 3304056	NM_001166108.2(PALLD):c.2132G>T (p.Arg711Leu)	CBR4, PALLD (R329L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1786431	NM_001166108.2(PALLD):c.2132G>A (p.Arg711Gln)	CBR4, PALLD (R224Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2625547	NM_001166108.2(PALLD):c.2133A>C (p.Arg711=)	CBR4, PALLD	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1109211	NM_001166108.2(PALLD):c.2133A>G (p.Arg711=)	CBR4, PALLD	Single nucleotide variant (synonymous variant)	Pancreatic adenocarcinoma	GLikely benign
Select item 1786481	NM_001166108.2(PALLD):c.2136G>A (p.Leu712=)	CBR4, PALLD	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 238614	NM_001166108.2(PALLD):c.2144C>T (p.Ala715Val)	PALLD, CBR4 (A228V +3 more)	Single nucleotide variant (missense variant)	Pancreatic adenocarcinoma	GUncertain significance
Select item 2782155	NM_001166108.2(PALLD):c.2147A>T (p.Asp716Val)	CBR4, PALLD (D229V +3 more)	Single nucleotide variant (missense variant)	Pancreatic adenocarcinoma	GUncertain significance
Select item 1578191	NM_001166108.2(PALLD):c.2148C>T (p.Asp716=)	CBR4, PALLD	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1786768	NM_001166108.2(PALLD):c.2151T>G (p.Ser717Arg)	CBR4, PALLD (S717R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1786778	NM_001166108.2(PALLD):c.2152G>A (p.Ala718Thr)	CBR4, PALLD (A336T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1786784	NM_001166108.2(PALLD):c.2153C>T (p.Ala718Val)	CBR4, PALLD (A718V +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1488166	NM_001166108.2(PALLD):c.2156C>T (p.Thr719Ile)	CBR4, PALLD (T12I +3 more)	Single nucleotide variant (missense variant)	Pancreatic adenocarcinoma +1 more	GUncertain significance
Select item 3304082	NM_001166108.2(PALLD):c.2157T>G (p.Thr719=)	CBR4, PALLD	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2625541	NM_001166108.2(PALLD):c.2157T>C (p.Thr719=)	CBR4, PALLD	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1014538	NM_001166108.2(PALLD):c.2158G>A (p.Val720Ile)	CBR4, PALLD (V13I +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3226767	NM_001166108.2(PALLD):c.2159T>C (p.Val720Ala)	CBR4, PALLD (V13A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 219960	NM_001166108.2(PALLD):c.2163T>G (p.Phe721Leu)	CBR4, PALLD (F721L +3 more)	Single nucleotide variant (missense variant)	Pancreatic adenocarcinoma +1 more	GUncertain significance
Select item 1125674	NM_001166108.2(PALLD):c.2169T>A (p.Ile723=)	CBR4, PALLD	Single nucleotide variant (synonymous variant)	Pancreatic adenocarcinoma	GLikely benign
Select item 1787104	NM_001166108.2(PALLD):c.2171A>T (p.Gln724Leu)	CBR4, PALLD (Q342L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1787102	NM_001166108.2(PALLD):c.2171A>G (p.Gln724Arg)	CBR4, PALLD (Q17R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 705659	NM_001166108.2(PALLD):c.2175G>A (p.Glu725=)	CBR4, PALLD	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1787184	NM_001166108.2(PALLD):c.2176C>G (p.Pro726Ala)	CBR4, PALLD (P239A +3 more)	Single nucleotide variant (missense variant)	Pancreatic adenocarcinoma +1 more	GUncertain significance
Select item 542939	NM_001166108.2(PALLD):c.2176C>A (p.Pro726Thr)	CBR4, PALLD (P726T +3 more)	Single nucleotide variant (missense variant)	Pancreatic adenocarcinoma +1 more	GUncertain significance
Select item 2563406	NM_001166108.2(PALLD):c.2179G>A (p.Glu727Lys)	CBR4, PALLD (E20K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1787271	NM_001166108.2(PALLD):c.2181A>G (p.Glu727=)	CBR4, PALLD	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 840800	NM_001166108.2(PALLD):c.2182G>C (p.Glu728Gln)	PALLD, CBR4 (E241Q +3 more)	Single nucleotide variant (missense variant)	Pancreatic adenocarcinoma +1 more	GUncertain significance
Select item 3304059	NM_001166108.2(PALLD):c.2183A>G (p.Glu728Gly)	CBR4, PALLD (E21G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2448475	NM_001166108.2(PALLD):c.2183A>T (p.Glu728Val)	CBR4, PALLD (E241V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1787310	NM_001166108.2(PALLD):c.2184G>C (p.Glu728Asp)	CBR4, PALLD (E21D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1787360	NM_001166108.2(PALLD):c.2188A>C (p.Thr730Pro)	CBR4, PALLD (T243P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304057	NM_001166108.2(PALLD):c.2191G>A (p.Ala731Thr)	CBR4, PALLD (A24T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 216539	NM_001166108.2(PALLD):c.2197C>G (p.Gln733Glu)	CBR4, PALLD (Q246E +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 410609	NM_001166108.2(PALLD):c.2199+4C>T	CBR4, PALLD	Single nucleotide variant (intron variant)	Pancreatic adenocarcinoma	GUncertain significance
Select item 238615	NM_001166108.2(PALLD):c.2199+5del	CBR4, PALLD	Deletion (intron variant)	Pancreatic adenocarcinoma	GBenign
Select item 136011	NM_001166108.2(PALLD):c.2199+8G>A	PALLD, CBR4	Single nucleotide variant (intron variant)	Pancreatic cancer, susceptibility to, 1 +2 more	GBenign/Likely benign
Select item 1951010	NM_001166108.2(PALLD):c.2199+16G>A	CBR4, PALLD	Single nucleotide variant (intron variant)	Pancreatic adenocarcinoma	GLikely benign
Select item 2136412	NM_001166108.2(PALLD):c.2199+18A>G	CBR4, PALLD	Single nucleotide variant (intron variant)	Pancreatic adenocarcinoma	GLikely benign
Select item 1237474	NM_001166108.2(PALLD):c.2199+277A>T	CBR4, PALLD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2370673	NM_001166108.2(PALLD):c.2225T>C (p.Val742Ala)	CBR4, PALLD (V35A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3058626	NM_001166108.2(PALLD):c.2242G>C (p.Gly748Arg)	CBR4, PALLD (G41R +1 more)	Single nucleotide variant (missense variant +1 more)	PALLD-related disorder	GUncertain significance
Select item 1229506	NM_001166108.2(PALLD):c.2251-55G>A	CBR4, PALLD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2069431	NM_001166108.2(PALLD):c.2251-12T>C	CBR4, PALLD	Single nucleotide variant (intron variant)	Pancreatic adenocarcinoma	GLikely benign
Select item 654773	NM_001166108.2(PALLD):c.2251G>A (p.Glu751Lys)	PALLD, CBR4 (E27K +5 more)	Single nucleotide variant (missense variant)	Pancreatic adenocarcinoma +1 more	GUncertain significance
Select item 2960067	NM_001166108.2(PALLD):c.2254T>C (p.Tyr752His)	CBR4, PALLD (Y752H +5 more)	Single nucleotide variant (missense variant)	Pancreatic adenocarcinoma	GUncertain significance
Select item 1787671	NM_001166108.2(PALLD):c.2255A>T (p.Tyr752Phe)	CBR4, PALLD (Y735F +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 542936	NM_001166108.2(PALLD):c.2258A>G (p.Lys753Arg)	PALLD, CBR4 (K249R +5 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2991700	NM_001166108.2(PALLD):c.2260G>A (p.Val754Ile)	CBR4, PALLD (V47I +5 more)	Single nucleotide variant (missense variant)	Pancreatic adenocarcinoma	GUncertain significance
Select item 3226768	NM_001166108.2(PALLD):c.2261T>C (p.Val754Ala)	CBR4, PALLD (V250A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623043	NM_001166108.2(PALLD):c.2261T>A (p.Val754Asp)	CBR4, PALLD (V250D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1026834	NM_001166108.2(PALLD):c.2264C>A (p.Ser755Tyr)	CBR4, PALLD (S251Y +5 more)	Single nucleotide variant (missense variant)	Pancreatic adenocarcinoma	GUncertain significance
Select item 2625546	NM_001166108.2(PALLD):c.2266A>T (p.Ser756Cys)	CBR4, PALLD (S32C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1787819	NM_001166108.2(PALLD):c.2266A>G (p.Ser756Gly)	CBR4, PALLD (S252G +5 more)	Single nucleotide variant (missense variant)	Pancreatic adenocarcinoma +1 more	GUncertain significance
Select item 542930	NM_001166108.2(PALLD):c.2267G>C (p.Ser756Thr)	CBR4, PALLD (S252T +5 more)	Single nucleotide variant (missense variant)	Pancreatic adenocarcinoma	GUncertain significance
Select item 1100630	NM_001166108.2(PALLD):c.2268C>T (p.Ser756=)	CBR4, PALLD	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1787890	NM_001166108.2(PALLD):c.2270G>C (p.Cys757Ser)	CBR4, PALLD (C358S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1787929	NM_001166108.2(PALLD):c.2271T>C (p.Cys757=)	CBR4, PALLD	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2448502	NM_001166108.2(PALLD):c.2274A>C (p.Glu758Asp)	CBR4, PALLD (E741D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2128091	NM_001166108.2(PALLD):c.2274A>G (p.Glu758=)	CBR4, PALLD	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1433201	NM_001166108.2(PALLD):c.2275C>A (p.Gln759Lys)	CBR4, PALLD (Q35K +5 more)	Single nucleotide variant (missense variant)	Pancreatic adenocarcinoma	GUncertain significance
Select item 1056577	NM_001166108.2(PALLD):c.2275C>G (p.Gln759Glu)	CBR4, PALLD (Q255E +5 more)	Single nucleotide variant (missense variant)	Pancreatic adenocarcinoma	GUncertain significance
Select item 1788135	NM_001166108.2(PALLD):c.2283C>T (p.Leu761=)	CBR4, PALLD	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 662736	NM_001166108.2(PALLD):c.2285T>C (p.Ile762Thr)	CBR4, PALLD (I258T +5 more)	Single nucleotide variant (missense variant)	Pancreatic adenocarcinoma +2 more	GUncertain significance

<< First< Prev

Page of 8