NM_032783.5(CBR4):c.163T>G (p.Cys55Gly) |
single nucleotide variant |
not specified [RCV004106857] |
Chr4:169007736 [GRCh38] Chr4:169928887 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3087T>A (p.Phe1029Leu) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000545496]|not specified [RCV004024366] |
Chr4:168924283 [GRCh38] Chr4:169845434 [GRCh37] Chr4:4q32.3 |
likely benign|uncertain significance |
NM_001166108.2(PALLD):c.3351C>T (p.Asp1117=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000545839]|not specified [RCV004024368] |
Chr4:168925071 [GRCh38] Chr4:169846222 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2695T>A (p.Ser899Thr) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000544307]|not provided [RCV004691911]|not specified [RCV004024365] |
Chr4:168913999 [GRCh38] Chr4:169835150 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2980C>T (p.Arg994Cys) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000552177] |
Chr4:168921663 [GRCh38] Chr4:169842814 [GRCh37] Chr4:4q32.3 |
uncertain significance |
GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3 |
copy number gain |
See cases [RCV000050649] |
Chr4:162013220..189975519 [GRCh38] Chr4:162934372..190828225 [GRCh37] Chr4:163153822..191133668 [NCBI36] Chr4:4q32.2-35.2 |
pathogenic |
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 |
copy number gain |
See cases [RCV000051785] |
Chr4:118065569..190042639 [GRCh38] Chr4:118986724..190828225 [GRCh37] Chr4:119206172..191200788 [NCBI36] Chr4:4q26-35.2 |
pathogenic |
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 |
copy number gain |
See cases [RCV000051786] |
Chr4:121518223..190062270 [GRCh38] Chr4:122439378..190828225 [GRCh37] Chr4:122658828..191220419 [NCBI36] Chr4:4q27-35.2 |
pathogenic |
GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3 |
copy number gain |
See cases [RCV000051788] |
Chr4:147317283..173675559 [GRCh38] Chr4:148238435..174596710 [GRCh37] Chr4:148457885..174833285 [NCBI36] Chr4:4q31.22-34.1 |
pathogenic |
GRCh38/hg38 4q31.23-35.2(chr4:148356485-189548183)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|See cases [RCV000051789] |
Chr4:148356485..189548183 [GRCh38] Chr4:149277637..190469337 [GRCh37] Chr4:149497087..190706331 [NCBI36] Chr4:4q31.23-35.2 |
pathogenic |
GRCh38/hg38 4q32.3-35.2(chr4:167218288-189975519)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051792]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051792]|See cases [RCV000051792] |
Chr4:167218288..189975519 [GRCh38] Chr4:168139439..190828225 [GRCh37] Chr4:168376014..191133668 [NCBI36] Chr4:4q32.3-35.2 |
pathogenic |
GRCh38/hg38 4q32.1-35.2(chr4:158568335-189975660)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]|See cases [RCV000053325] |
Chr4:158568335..189975660 [GRCh38] Chr4:159489487..190828225 [GRCh37] Chr4:159708937..191133809 [NCBI36] Chr4:4q32.1-35.2 |
pathogenic |
GRCh38/hg38 4q32.2-34.1(chr4:162723818-172501433)x1 |
copy number loss |
See cases [RCV000053326] |
Chr4:162723818..172501433 [GRCh38] Chr4:163644970..173422584 [GRCh37] Chr4:163864420..173659159 [NCBI36] Chr4:4q32.2-34.1 |
pathogenic |
GRCh38/hg38 4q32.3-35.2(chr4:163651681-189975519)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053327]|See cases [RCV000053327] |
Chr4:163651681..189975519 [GRCh38] Chr4:164572833..190828225 [GRCh37] Chr4:164792283..191133668 [NCBI36] Chr4:4q32.3-35.2 |
pathogenic |
GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1 |
copy number loss |
See cases [RCV000053347] |
Chr4:164039530..189982708 [GRCh38] Chr4:164960682..190828225 [GRCh37] Chr4:165180132..191140857 [NCBI36] Chr4:4q32.3-35.2 |
pathogenic |
GRCh38/hg38 4q32.3-34.1(chr4:167851017-172200428)x1 |
copy number loss |
See cases [RCV000053348] |
Chr4:167851017..172200428 [GRCh38] Chr4:168772168..173121579 [GRCh37] Chr4:169008743..173358154 [NCBI36] Chr4:4q32.3-34.1 |
pathogenic |
NM_001166108.2(PALLD):c.2293A>T (p.Ile765Leu) |
single nucleotide variant |
not provided [RCV000116046] |
Chr4:168898535 [GRCh38] Chr4:169819686 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2356G>A (p.Val786Met) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000205580]|not provided [RCV000116047] |
Chr4:168898598 [GRCh38] Chr4:169819749 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2527A>G (p.Ile843Val) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001854560]|not provided [RCV000116048]|not specified [RCV004658968] |
Chr4:168903811 [GRCh38] Chr4:169824962 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2581G>C (p.Asp861His) |
single nucleotide variant |
not provided [RCV000116049] |
Chr4:168903865 [GRCh38] Chr4:169825016 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2651T>C (p.Met884Thr) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000531519]|not provided [RCV000116050]|not specified [RCV004019617] |
Chr4:168913955 [GRCh38] Chr4:169835106 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2905C>T (p.Arg969Cys) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001339599] |
Chr4:168921588 [GRCh38] Chr4:169842739 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3264T>G (p.Ile1088Met) |
single nucleotide variant |
not provided [RCV000116052]|not specified [RCV004019618] |
Chr4:168924984 [GRCh38] Chr4:169846135 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3301G>C (p.Val1101Leu) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001053240]|not provided [RCV000116053] |
Chr4:168925021 [GRCh38] Chr4:169846172 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2748C>T (p.Asp916=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000123162]|not provided [RCV004716989]|not specified [RCV004019705] |
Chr4:168915925 [GRCh38] Chr4:169837076 [GRCh37] Chr4:4q32.3 |
benign|likely benign |
NM_001166108.2(PALLD):c.3269G>A (p.Gly1090Glu) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000206324]|not specified [RCV004019706] |
Chr4:168924989 [GRCh38] Chr4:169846140 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3297T>C (p.Tyr1099=) |
single nucleotide variant |
PALLD-related disorder [RCV003952631]|Pancreatic adenocarcinoma [RCV000123166]|Pancreatic cancer, susceptibility to, 1 [RCV000319186]|not provided [RCV002055381]|not specified [RCV000194244] |
Chr4:168925017 [GRCh38] Chr4:169846168 [GRCh37] Chr4:4q32.3 |
benign|likely benign |
NM_001166108.2(PALLD):c.2199+8G>A |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001083018]|Pancreatic cancer, susceptibility to, 1 [RCV000310521]|not provided [RCV003389731] |
Chr4:168894685 [GRCh38] Chr4:169815836 [GRCh37] Chr4:4q32.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001166108.2(PALLD):c.2326G>C (p.Glu776Gln) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000123178]|not specified [RCV004019709] |
Chr4:168898568 [GRCh38] Chr4:169819719 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2362G>T (p.Val788Leu) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000123179] |
Chr4:168898604 [GRCh38] Chr4:169819755 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2393T>C (p.Met798Thr) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001083259]|Pancreatic cancer, susceptibility to, 1 [RCV000365201]|not provided [RCV003389732]|not specified [RCV004019710] |
Chr4:168898635 [GRCh38] Chr4:169819786 [GRCh37] Chr4:4q32.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001166108.2(PALLD):c.2414T>G (p.Ile805Ser) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000123181]|not specified [RCV004019711] |
Chr4:168898656 [GRCh38] Chr4:169819807 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2442A>G (p.Thr814=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001084926]|Pancreatic cancer, susceptibility to, 1 [RCV000398866]|not provided [RCV000119202]|not specified [RCV000160877] |
Chr4:168898684 [GRCh38] Chr4:169819835 [GRCh37] Chr4:4q32.3 |
benign|likely benign |
GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3 |
copy number gain |
See cases [RCV000135845] |
Chr4:145042668..189975519 [GRCh38] Chr4:145963820..190828225 [GRCh37] Chr4:146183270..191133668 [NCBI36] Chr4:4q31.21-35.2 |
pathogenic |
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 |
copy number gain |
See cases [RCV000136810] |
Chr4:138510532..189963195 [GRCh38] Chr4:139431686..190828225 [GRCh37] Chr4:139651136..191121344 [NCBI36] Chr4:4q31.1-35.2 |
pathogenic |
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3 |
copy number gain |
See cases [RCV000137721] |
Chr4:131985253..190095391 [GRCh38] Chr4:132906408..190828225 [GRCh37] Chr4:133125858..191250527 [NCBI36] Chr4:4q28.3-35.2 |
pathogenic|likely benign |
GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1 |
copy number loss |
See cases [RCV000137532] |
Chr4:166317587..190095391 [GRCh38] Chr4:167238739..190828225 [GRCh37] Chr4:167458189..191250527 [NCBI36] Chr4:4q32.3-35.2 |
pathogenic |
GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3 |
copy number gain |
See cases [RCV000138578] |
Chr4:125432943..185761887 [GRCh38] Chr4:126354098..186683041 [GRCh37] Chr4:126573548..186920035 [NCBI36] Chr4:4q28.1-35.1 |
pathogenic|likely benign |
GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1 |
copy number loss |
See cases [RCV000140414] |
Chr4:165281036..190018185 [GRCh38] Chr4:166202188..190939340 [GRCh37] Chr4:166421638..191176334 [NCBI36] Chr4:4q32.3-35.2 |
pathogenic |
GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3 |
copy number gain |
See cases [RCV000140982] |
Chr4:160757699..190091407 [GRCh38] Chr4:161678851..191012562 [GRCh37] Chr4:161898301..191246543 [NCBI36] Chr4:4q32.1-35.2 |
pathogenic |
GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1 |
copy number loss |
See cases [RCV000141964] |
Chr4:167373716..190036318 [GRCh38] Chr4:168294867..190957473 [GRCh37] Chr4:168531442..191194467 [NCBI36] Chr4:4q32.3-35.2 |
pathogenic |
GRCh38/hg38 4q32.1-33(chr4:155162982-170959553)x1 |
copy number loss |
See cases [RCV000141861] |
Chr4:155162982..170959553 [GRCh38] Chr4:156084134..171880704 [GRCh37] Chr4:156303584..172117279 [NCBI36] Chr4:4q32.1-33 |
pathogenic |
GRCh38/hg38 4q32.3-34.3(chr4:166630207-179820960) |
copy number loss |
See cases [RCV000141653] |
Chr4:166630207..179820960 [GRCh38] Chr4:167551358..180742113 [GRCh37] Chr4:167770808..180979107 [NCBI36] Chr4:4q32.3-34.3 |
pathogenic |
GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1 |
copy number loss |
See cases [RCV000142368] |
Chr4:168970400..186936738 [GRCh38] Chr4:169891551..187857892 [GRCh37] Chr4:170128126..188094886 [NCBI36] Chr4:4q32.3-35.2 |
pathogenic |
GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3 |
copy number gain |
See cases [RCV000143331] |
Chr4:168119317..190095391 [GRCh38] Chr4:169040468..190828225 [GRCh37] Chr4:169277043..191250527 [NCBI36] Chr4:4q32.3-35.2 |
pathogenic |
GRCh38/hg38 4q32.3-33(chr4:167469096-170889588)x3 |
copy number gain |
See cases [RCV000143231] |
Chr4:167469096..170889588 [GRCh38] Chr4:168390247..171810739 [GRCh37] Chr4:168626822..172047314 [NCBI36] Chr4:4q32.3-33 |
uncertain significance |
GRCh38/hg38 4q32.3-33(chr4:168140014-170186711)x3 |
copy number gain |
See cases [RCV000143625] |
Chr4:168140014..170186711 [GRCh38] Chr4:169061165..171107862 [GRCh37] Chr4:169297740..171344437 [NCBI36] Chr4:4q32.3-33 |
likely pathogenic |
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 |
copy number gain |
See cases [RCV000143559] |
Chr4:134935616..190036318 [GRCh38] Chr4:135856771..190957473 [GRCh37] Chr4:136076221..191194467 [NCBI36] Chr4:4q28.3-35.2 |
pathogenic |
NM_001166108.2(PALLD):c.3256C>T (p.Leu1086=) |
single nucleotide variant |
PALLD-related disorder [RCV003965182]|Pancreatic adenocarcinoma [RCV000204944]|Pancreatic cancer, susceptibility to, 1 [RCV000261555]|not specified [RCV000160878] |
Chr4:168924976 [GRCh38] Chr4:169846127 [GRCh37] Chr4:4q32.3 |
benign|likely benign |
NM_001166108.2(PALLD):c.3359-24CT[5] |
microsatellite |
Hereditary cancer-predisposing syndrome [RCV000160879] |
Chr4:168925209..168925210 [GRCh38] Chr4:169846360..169846361 [GRCh37] Chr4:4q32.3 |
benign |
NM_001166108.2(PALLD):c.*153A>G |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000168268] |
Chr4:168926333 [GRCh38] Chr4:169847484 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2353G>T (p.Asp785Tyr) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000168277]|not specified [RCV004020004] |
Chr4:168898595 [GRCh38] Chr4:169819746 [GRCh37] Chr4:4q32.3 |
uncertain significance |
GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3 |
copy number gain |
See cases [RCV000240245] |
Chr4:136912336..184253252 [GRCh37] Chr4:4q28.3-35.1 |
pathogenic |
NM_001166108.2(PALLD):c.2675G>A (p.Gly892Asp) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000196073] |
Chr4:168913979 [GRCh38] Chr4:169835130 [GRCh37] Chr4:4q32.3 |
likely pathogenic|uncertain significance |
NM_001166108.2(PALLD):c.2621A>G (p.Gln874Arg) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000196940]|not specified [RCV004020466] |
Chr4:168903905 [GRCh38] Chr4:169825056 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2197C>G (p.Gln733Glu) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000198039]|not specified [RCV004020469] |
Chr4:168894675 [GRCh38] Chr4:169815826 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2645G>A (p.Arg882Gln) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000198832]|not specified [RCV004020467] |
Chr4:168913949 [GRCh38] Chr4:169835100 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.*108C>T |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000199118] |
Chr4:168926288 [GRCh38] Chr4:169847439 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2513G>A (p.Ser838Asn) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000199356]|not specified [RCV004658988] |
Chr4:168903797 [GRCh38] Chr4:169824948 [GRCh37] Chr4:4q32.3 |
likely benign|uncertain significance |
NM_001166108.2(PALLD):c.2784T>C (p.Pro928=) |
single nucleotide variant |
PALLD-related disorder [RCV003955200]|Pancreatic adenocarcinoma [RCV000199612]|Pancreatic cancer, susceptibility to, 1 [RCV000369325]|not specified [RCV004020441] |
Chr4:168915961 [GRCh38] Chr4:169837112 [GRCh37] Chr4:4q32.3 |
likely pathogenic|benign|likely benign |
NM_001166108.2(PALLD):c.2312G>A (p.Arg771Lys) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000199919] |
Chr4:168898554 [GRCh38] Chr4:169819705 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2541C>T (p.Leu847=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001424160]|not specified [RCV004020450] |
Chr4:168903825 [GRCh38] Chr4:169824976 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2532A>G (p.Gln844=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000200565]|not specified [RCV004020465] |
Chr4:168903816 [GRCh38] Chr4:169824967 [GRCh37] Chr4:4q32.3 |
likely benign|uncertain significance |
NM_001166108.2(PALLD):c.33-4G>A |
single nucleotide variant |
PALLD-related disorder [RCV003947654]|Pancreatic adenocarcinoma [RCV000197648]|Pancreatic cancer, susceptibility to, 1 [RCV000286156] |
Chr4:168926209 [GRCh38] Chr4:169847360 [GRCh37] Chr4:4q32.3 |
benign|likely benign |
NM_001166108.2(PALLD):c.2626C>T (p.Arg876Cys) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000204482]|not specified [RCV004020505] |
Chr4:168913930 [GRCh38] Chr4:169835081 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2347T>G (p.Tyr783Asp) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000204680]|not specified [RCV004020518] |
Chr4:168898589 [GRCh38] Chr4:169819740 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2333G>T (p.Gly778Val) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000204710]|not specified [RCV004020510] |
Chr4:168898575 [GRCh38] Chr4:169819726 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166110.1(PALLD):c.738+4delC |
deletion |
Pancreatic adenocarcinoma [RCV000204907] |
Chr4:168894681 [GRCh38] Chr4:169815832 [GRCh37] Chr4:4q32.3 |
benign |
NM_001166108.2(PALLD):c.2576C>T (p.Thr859Ile) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000205097] |
Chr4:168903860 [GRCh38] Chr4:169825011 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2520C>A (p.His840Gln) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000205622]|not specified [RCV004020515] |
Chr4:168903804 [GRCh38] Chr4:169824955 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3177T>A (p.Phe1059Leu) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000205898]|not specified [RCV004020546] |
Chr4:168924373 [GRCh38] Chr4:169845524 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2163T>G (p.Phe721Leu) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000206121]|not specified [RCV004020516] |
Chr4:168894641 [GRCh38] Chr4:169815792 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3254G>A (p.Cys1085Tyr) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000206157]|not specified [RCV004020530] |
Chr4:168924974 [GRCh38] Chr4:169846125 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3358+9C>G |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001500484] |
Chr4:168925087 [GRCh38] Chr4:169846238 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2723G>A (p.Arg908His) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000230245]|not specified [RCV004020778] |
Chr4:168915900 [GRCh38] Chr4:169837051 [GRCh37] Chr4:4q32.3 |
likely benign|uncertain significance |
NM_001166108.2(PALLD):c.2101-9G>A |
single nucleotide variant |
PALLD-related disorder [RCV003905178]|Pancreatic adenocarcinoma [RCV000123176] |
Chr4:168894570 [GRCh38] Chr4:169815721 [GRCh37] Chr4:4q32.3 |
likely benign|uncertain significance |
NM_001166108.2(PALLD):c.2199+5del |
deletion |
Pancreatic adenocarcinoma [RCV000227731] |
Chr4:168894681 [GRCh38] Chr4:169815832 [GRCh37] Chr4:4q32.3 |
benign |
NM_001166108.2(PALLD):c.2130T>C (p.Arg710=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000205872]|not specified [RCV004020536] |
Chr4:168894608 [GRCh38] Chr4:169815759 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3218G>A (p.Arg1073Gln) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000231402]|not specified [RCV004020779] |
Chr4:168924414 [GRCh38] Chr4:169845565 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2687G>A (p.Arg896Gln) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000226280]|not specified [RCV004020777] |
Chr4:168913991 [GRCh38] Chr4:169835142 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2144C>T (p.Ala715Val) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000232764] |
Chr4:168894622 [GRCh38] Chr4:169815773 [GRCh37] Chr4:4q32.3 |
uncertain significance |
GRCh37/hg19 4q32.2-34.2(chr4:162344510-177103037)x1 |
copy number loss |
See cases [RCV000239855] |
Chr4:162344510..177103037 [GRCh37] Chr4:4q32.2-34.2 |
pathogenic |
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 |
copy number gain |
See cases [RCV000240392] |
Chr4:119437495..190904301 [GRCh37] Chr4:4q26-35.2 |
pathogenic |
NM_001166108.2(PALLD):c.*1792T>A |
single nucleotide variant |
Pancreatic cancer, susceptibility to, 1 [RCV000267723] |
Chr4:168927972 [GRCh38] Chr4:169849123 [GRCh37] Chr4:4q32.3 |
likely benign|uncertain significance |
NM_001166108.2(PALLD):c.*1906G>A |
single nucleotide variant |
Pancreatic cancer, susceptibility to, 1 [RCV000271034]|not provided [RCV001675853] |
Chr4:168928086 [GRCh38] Chr4:169849237 [GRCh37] Chr4:4q32.3 |
benign |
NM_001166108.2(PALLD):c.2891A>C (p.Asp964Ala) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001226048]|Pancreatic cancer, susceptibility to, 1 [RCV000277008] |
Chr4:168921574 [GRCh38] Chr4:169842725 [GRCh37] Chr4:4q32.3 |
likely benign|uncertain significance |
NM_001166108.2(PALLD):c.*2155_*2156del |
deletion |
Carcinoma of pancreas [RCV000278358]|not provided [RCV004695784] |
Chr4:168928327..168928328 [GRCh38] Chr4:169849478..169849479 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.*333ATA[3] |
microsatellite |
Carcinoma of pancreas [RCV000289470] |
Chr4:168926511..168926512 [GRCh38] Chr4:169847662..169847663 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.*1164T>G |
single nucleotide variant |
Pancreatic cancer, susceptibility to, 1 [RCV000299921] |
Chr4:168927344 [GRCh38] Chr4:169848495 [GRCh37] Chr4:4q32.3 |
benign|likely benign |
NM_001166108.2(PALLD):c.*1786_*1787insATT |
insertion |
Carcinoma of pancreas [RCV000303576] |
Chr4:168927966..168927967 [GRCh38] Chr4:169849117..169849118 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2679A>G (p.Arg893=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000860256]|Pancreatic cancer, susceptibility to, 1 [RCV000312336]|not provided [RCV001691995]|not specified [RCV004021955] |
Chr4:168913983 [GRCh38] Chr4:169835134 [GRCh37] Chr4:4q32.3 |
benign |
NM_001166108.2(PALLD):c.3145C>T (p.Arg1049Cys) |
single nucleotide variant |
Carcinoma of pancreas [RCV000315803]|Pancreatic adenocarcinoma [RCV000700928]|not specified [RCV004021956] |
Chr4:168924341 [GRCh38] Chr4:169845492 [GRCh37] Chr4:4q32.3 |
likely benign|uncertain significance |
NM_001166108.2(PALLD):c.*325del |
deletion |
Carcinoma of pancreas [RCV000324866]|not provided [RCV001653674] |
Chr4:168926496 [GRCh38] Chr4:169847647 [GRCh37] Chr4:4q32.3 |
benign |
NM_001166108.2(PALLD):c.*1808C>T |
single nucleotide variant |
Pancreatic cancer, susceptibility to, 1 [RCV000325058] |
Chr4:168927988 [GRCh38] Chr4:169849139 [GRCh37] Chr4:4q32.3 |
likely benign|uncertain significance |
NM_001166108.2(PALLD):c.*1131T>G |
single nucleotide variant |
Pancreatic cancer, susceptibility to, 1 [RCV000334998] |
Chr4:168927311 [GRCh38] Chr4:169848462 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.*2184G>A |
single nucleotide variant |
Pancreatic cancer, susceptibility to, 1 [RCV000339397] |
Chr4:168928364 [GRCh38] Chr4:169849515 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.*492A>G |
single nucleotide variant |
Pancreatic cancer, susceptibility to, 1 [RCV000347025] |
Chr4:168926672 [GRCh38] Chr4:169847823 [GRCh37] Chr4:4q32.3 |
benign|likely benign |
NM_001166108.2(PALLD):c.*946C>A |
single nucleotide variant |
Pancreatic cancer, susceptibility to, 1 [RCV000350510]|not provided [RCV004716175] |
Chr4:168927126 [GRCh38] Chr4:169848277 [GRCh37] Chr4:4q32.3 |
benign|likely benign |
NM_001166108.2(PALLD):c.3150A>G (p.Val1050=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002057922]|Pancreatic cancer, susceptibility to, 1 [RCV000354139]|not specified [RCV004021957] |
Chr4:168924346 [GRCh38] Chr4:169845497 [GRCh37] Chr4:4q32.3 |
benign|likely benign|uncertain significance |
NM_001166108.2(PALLD):c.*1594T>C |
single nucleotide variant |
Pancreatic cancer, susceptibility to, 1 [RCV000357157] |
Chr4:168927774 [GRCh38] Chr4:169848925 [GRCh37] Chr4:4q32.3 |
benign|likely benign |
NM_001166108.2(PALLD):c.*1757T>G |
single nucleotide variant |
Pancreatic cancer, susceptibility to, 1 [RCV000264861] |
Chr4:168927937 [GRCh38] Chr4:169849088 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3359-4G>A |
single nucleotide variant |
Pancreatic cancer, susceptibility to, 1 [RCV000376121]|not provided [RCV001675852]|not specified [RCV004021958] |
Chr4:168925229 [GRCh38] Chr4:169846380 [GRCh37] Chr4:4q32.3 |
benign|likely benign |
NM_001166108.2(PALLD):c.*317A>T |
single nucleotide variant |
Pancreatic cancer, susceptibility to, 1 [RCV000381767] |
Chr4:168926497 [GRCh38] Chr4:169847648 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.*1829T>C |
single nucleotide variant |
Pancreatic cancer, susceptibility to, 1 [RCV000382024] |
Chr4:168928009 [GRCh38] Chr4:169849160 [GRCh37] Chr4:4q32.3 |
benign|likely benign |
NM_001166108.2(PALLD):c.*2058C>G |
single nucleotide variant |
Pancreatic cancer, susceptibility to, 1 [RCV000385400]|not provided [RCV001618621] |
Chr4:168928238 [GRCh38] Chr4:169849389 [GRCh37] Chr4:4q32.3 |
benign |
NM_001166108.2(PALLD):c.*2156del |
deletion |
Carcinoma of pancreas [RCV000389268] |
Chr4:168928327 [GRCh38] Chr4:169849478 [GRCh37] Chr4:4q32.3 |
benign |
NM_001166108.2(PALLD):c.*992A>G |
single nucleotide variant |
Pancreatic cancer, susceptibility to, 1 [RCV000396199] |
Chr4:168927172 [GRCh38] Chr4:169848323 [GRCh37] Chr4:4q32.3 |
benign|likely benign |
NM_001166108.2(PALLD):c.*2214C>T |
single nucleotide variant |
Pancreatic cancer, susceptibility to, 1 [RCV000396315] |
Chr4:168928394 [GRCh38] Chr4:169849545 [GRCh37] Chr4:4q32.3 |
benign|likely benign |
NM_001166108.2(PALLD):c.*1132T>C |
single nucleotide variant |
Pancreatic cancer, susceptibility to, 1 [RCV000401967] |
Chr4:168927312 [GRCh38] Chr4:169848463 [GRCh37] Chr4:4q32.3 |
benign|likely benign |
NM_001166108.2(PALLD):c.2532A>C (p.Gln844His) |
single nucleotide variant |
not specified [RCV004320470] |
Chr4:168903816 [GRCh38] Chr4:169824967 [GRCh37] Chr4:4q32.3 |
uncertain significance |
GRCh37/hg19 4q32.3-34.1(chr4:169709270-171996798)x1 |
copy number loss |
See cases [RCV003222553] |
Chr4:169709270..171996798 [GRCh37] Chr4:4q32.3-34.1 |
uncertain significance |
GRCh37/hg19 4q32.3-35.2(chr4:167779888-190957473)x1 |
copy number loss |
See cases [RCV002292706] |
Chr4:167779888..190957473 [GRCh37] Chr4:4q32.3-35.2 |
pathogenic |
NM_001166108.2(PALLD):c.*1011_*1014dup |
duplication |
Carcinoma of pancreas [RCV000315023] |
Chr4:168927189..168927190 [GRCh38] Chr4:169848340..169848341 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.*908A>G |
single nucleotide variant |
Pancreatic cancer, susceptibility to, 1 [RCV000293190] |
Chr4:168927088 [GRCh38] Chr4:169848239 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.*2070G>C |
single nucleotide variant |
Pancreatic cancer, susceptibility to, 1 [RCV000293432] |
Chr4:168928250 [GRCh38] Chr4:169849401 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.*829dup |
duplication |
Carcinoma of pancreas [RCV000385204] |
Chr4:168927001..168927002 [GRCh38] Chr4:169848152..169848153 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.*2162ATCA[2] |
microsatellite |
Carcinoma of pancreas [RCV000335736]|not provided [RCV001672639] |
Chr4:168928342..168928345 [GRCh38] Chr4:169849493..169849496 [GRCh37] Chr4:4q32.3 |
benign |
NM_001166108.2(PALLD):c.*2156dup |
duplication |
Carcinoma of pancreas [RCV000350998]|not provided [RCV004695783] |
Chr4:168928326..168928327 [GRCh38] Chr4:169849477..169849478 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.*2166A>G |
single nucleotide variant |
Pancreatic cancer, susceptibility to, 1 [RCV000396316] |
Chr4:168928346 [GRCh38] Chr4:169849497 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.*2168C>A |
single nucleotide variant |
Pancreatic cancer, susceptibility to, 1 [RCV000300945] |
Chr4:168928348 [GRCh38] Chr4:169849499 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.*1787T>C |
single nucleotide variant |
Pancreatic cancer, susceptibility to, 1 [RCV000360071] |
Chr4:168927967 [GRCh38] Chr4:169849118 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.*2022A>G |
single nucleotide variant |
Pancreatic cancer, susceptibility to, 1 [RCV000328416] |
Chr4:168928202 [GRCh38] Chr4:169849353 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3277A>G (p.Lys1093Glu) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000537608]|not specified [RCV004024367] |
Chr4:168924997 [GRCh38] Chr4:169846148 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.*187A>G |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000558235] |
Chr4:168926367 [GRCh38] Chr4:169847518 [GRCh37] Chr4:4q32.3 |
likely benign |
GRCh37/hg19 4q32.3-35.2(chr4:167413365-190957473)x1 |
copy number loss |
See cases [RCV000446115] |
Chr4:167413365..190957473 [GRCh37] Chr4:4q32.3-35.2 |
pathogenic |
GRCh37/hg19 4q32.3-35.2(chr4:166735148-190957473)x3 |
copy number gain |
See cases [RCV000446531] |
Chr4:166735148..190957473 [GRCh37] Chr4:4q32.3-35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 |
copy number gain |
See cases [RCV000446653] |
Chr4:12440..190904441 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
NM_001166108.2(PALLD):c.2414T>C (p.Ile805Thr) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000463271] |
Chr4:168898656 [GRCh38] Chr4:169819807 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2754T>A (p.Asn918Lys) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000465884] |
Chr4:168915931 [GRCh38] Chr4:169837082 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2598T>C (p.Tyr866=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000469577]|not specified [RCV004023022] |
Chr4:168903882 [GRCh38] Chr4:169825033 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2815G>C (p.Val939Leu) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000474954]|not specified [RCV004022806] |
Chr4:168915992 [GRCh38] Chr4:169837143 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.*77C>T |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000456395] |
Chr4:168926257 [GRCh38] Chr4:169847408 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2976G>A (p.Thr992=) |
single nucleotide variant |
PALLD-related disorder [RCV003972797]|Pancreatic adenocarcinoma [RCV000468633]|not specified [RCV004023020] |
Chr4:168921659 [GRCh38] Chr4:169842810 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3321A>G (p.Ala1107=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002063684]|not specified [RCV004023023] |
Chr4:168925041 [GRCh38] Chr4:169846192 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.*163C>T |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001445639] |
Chr4:168926343 [GRCh38] Chr4:169847494 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2199+4C>T |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000470091] |
Chr4:168894681 [GRCh38] Chr4:169815832 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2112C>T (p.Tyr704=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001472301]|Pancreatic cancer, susceptibility to, 1 [RCV003316620]|not specified [RCV004023021] |
Chr4:168894590 [GRCh38] Chr4:169815741 [GRCh37] Chr4:4q32.3 |
likely benign |
GRCh37/hg19 4q32.3-35.2(chr4:166436844-190957473)x3 |
copy number gain |
See cases [RCV000510222] |
Chr4:166436844..190957473 [GRCh37] Chr4:4q32.3-35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) |
copy number gain |
See cases [RCV000510453] |
Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3 |
copy number gain |
See cases [RCV000510713] |
Chr4:153890440..190957473 [GRCh37] Chr4:4q31.3-35.2 |
pathogenic |
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 |
copy number gain |
See cases [RCV000511945] |
Chr4:109199664..189752726 [GRCh37] Chr4:4q25-35.2 |
pathogenic |
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 |
copy number gain |
See cases [RCV000510970] |
Chr4:93071152..190957473 [GRCh37] Chr4:4q22.1-35.2 |
pathogenic |
NM_001166108.2(PALLD):c.2524A>G (p.Thr842Ala) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000538211]|not specified [RCV004024364] |
Chr4:168903808 [GRCh38] Chr4:169824959 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2600C>A (p.Thr867Lys) |
single nucleotide variant |
not specified [RCV004331280] |
Chr4:168903884 [GRCh38] Chr4:169825035 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2445T>C (p.Cys815=) |
single nucleotide variant |
not specified [RCV004331287] |
Chr4:168898687 [GRCh38] Chr4:169819838 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3364C>G (p.Arg1122Gly) |
single nucleotide variant |
not specified [RCV004331298] |
Chr4:168925238 [GRCh38] Chr4:169846389 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3056C>T (p.Ala1019Val) |
single nucleotide variant |
not specified [RCV004331312] |
Chr4:168921739 [GRCh38] Chr4:169842890 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2507C>T (p.Pro836Leu) |
single nucleotide variant |
not specified [RCV004331324] |
Chr4:168903791 [GRCh38] Chr4:169824942 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3095A>G (p.Lys1032Arg) |
single nucleotide variant |
not specified [RCV004331333] |
Chr4:168924291 [GRCh38] Chr4:169845442 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2364G>A (p.Val788=) |
single nucleotide variant |
not specified [RCV004328021] |
Chr4:168898606 [GRCh38] Chr4:169819757 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2496G>C (p.Lys832Asn) |
single nucleotide variant |
not specified [RCV004331278] |
Chr4:168903780 [GRCh38] Chr4:169824931 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2437T>C (p.Phe813Leu) |
single nucleotide variant |
not specified [RCV004331281] |
Chr4:168898679 [GRCh38] Chr4:169819830 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3043G>A (p.Glu1015Lys) |
single nucleotide variant |
not specified [RCV004331313] |
Chr4:168921726 [GRCh38] Chr4:169842877 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2921A>C (p.His974Pro) |
single nucleotide variant |
not specified [RCV004331328] |
Chr4:168921604 [GRCh38] Chr4:169842755 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3183G>A (p.Lys1061=) |
single nucleotide variant |
not specified [RCV004331331] |
Chr4:168924379 [GRCh38] Chr4:169845530 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2267G>C (p.Ser756Thr) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000653471] |
Chr4:168898509 [GRCh38] Chr4:169819660 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2810T>G (p.Leu937Arg) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000653476]|not specified [RCV004025908] |
Chr4:168915987 [GRCh38] Chr4:169837138 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2635T>G (p.Cys879Gly) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000555487] |
Chr4:168913939 [GRCh38] Chr4:169835090 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2258A>G (p.Lys753Arg) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000653477]|not specified [RCV004025909] |
Chr4:168898500 [GRCh38] Chr4:169819651 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2303G>A (p.Arg768Lys) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000653478] |
Chr4:168898545 [GRCh38] Chr4:169819696 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2176C>A (p.Pro726Thr) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000653480]|not specified [RCV004025910] |
Chr4:168894654 [GRCh38] Chr4:169815805 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3146G>A (p.Arg1049His) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000653474] |
Chr4:168924342 [GRCh38] Chr4:169845493 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.*136G>A |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000653485] |
Chr4:168926316 [GRCh38] Chr4:169847467 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_032783.5(CBR4):c.56C>T (p.Ala19Val) |
single nucleotide variant |
not specified [RCV004305700] |
Chr4:169010034 [GRCh38] Chr4:169931185 [GRCh37] Chr4:4q32.3 |
uncertain significance |
GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3 |
copy number gain |
See cases [RCV000512542] |
Chr4:156465633..190957473 [GRCh37] Chr4:4q32.1-35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 |
copy number gain |
See cases [RCV000512241] |
Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4q32.2-34.3(chr4:162205710-182329883)x1 |
copy number loss |
See cases [RCV000512340] |
Chr4:162205710..182329883 [GRCh37] Chr4:4q32.2-34.3 |
pathogenic |
GRCh37/hg19 4q32.1-35.2(chr4:159492464-190957473)x3 |
copy number gain |
not provided [RCV000682478] |
Chr4:159492464..190957473 [GRCh37] Chr4:4q32.1-35.2 |
pathogenic |
GRCh37/hg19 4q32.1-35.1(chr4:157552397-183831253)x3 |
copy number gain |
not provided [RCV000682475] |
Chr4:157552397..183831253 [GRCh37] Chr4:4q32.1-35.1 |
pathogenic |
Single allele |
deletion |
not provided [RCV000677975] |
Chr4:164428194..173480785 [GRCh37] Chr4:4q32.2-34.1 |
likely pathogenic |
NM_001166108.2(PALLD):c.2749G>A (p.Glu917Lys) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002424594]|Inborn genetic diseases [RCV002547116]|PALLD-related disorder [RCV003420218]|Pancreatic adenocarcinoma [RCV000687569] |
Chr4:168915926 [GRCh38] Chr4:169837077 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.*155C>G |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000686406] |
Chr4:168926335 [GRCh38] Chr4:169847486 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2983G>C (p.Asp995His) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000707309]|not specified [RCV004026750] |
Chr4:168921666 [GRCh38] Chr4:169842817 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.*127C>G |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000695641] |
Chr4:168926307 [GRCh38] Chr4:169847458 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2902G>A (p.Val968Ile) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000695714]|not specified [RCV004025251] |
Chr4:168921585 [GRCh38] Chr4:169842736 [GRCh37] Chr4:4q32.3 |
likely benign|uncertain significance |
NM_001166108.2(PALLD):c.2693C>T (p.Pro898Leu) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000705045] |
Chr4:168913997 [GRCh38] Chr4:169835148 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2678G>A (p.Arg893Gln) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000694415]|not specified [RCV004025194] |
Chr4:168913982 [GRCh38] Chr4:169835133 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3050T>C (p.Val1017Ala) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000703507] |
Chr4:168921733 [GRCh38] Chr4:169842884 [GRCh37] Chr4:4q32.3 |
uncertain significance |
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 |
copy number gain |
not provided [RCV000743155] |
Chr4:49450..190915650 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4q32.3-34.1(chr4:166431563-174837887)x1 |
copy number loss |
not provided [RCV000744125] |
Chr4:166431563..174837887 [GRCh37] Chr4:4q32.3-34.1 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 |
copy number gain |
not provided [RCV000743156] |
Chr4:49450..190963766 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 |
copy number gain |
not provided [RCV000743147] |
Chr4:11525..191028879 [GRCh37] Chr4:4p16.3-q35.2 |
pathogenic |
NM_001166108.2(PALLD):c.2101-6_2101-4del |
microsatellite |
Pancreatic adenocarcinoma [RCV002539100] |
Chr4:168894570..168894572 [GRCh38] Chr4:169815721..169815723 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2132G>A (p.Arg711Gln) |
single nucleotide variant |
not specified [RCV004060451] |
Chr4:168894610 [GRCh38] Chr4:169815761 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2622+9G>A |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001398853] |
Chr4:168903915 [GRCh38] Chr4:169825066 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2101-10C>T |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001478088] |
Chr4:168894569 [GRCh38] Chr4:169815720 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3112G>C (p.Val1038Leu) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001041330] |
Chr4:168924308 [GRCh38] Chr4:169845459 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3349G>A (p.Asp1117Asn) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001058746] |
Chr4:168925069 [GRCh38] Chr4:169846220 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3199C>G (p.Leu1067Val) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001068641]|not specified [RCV004030683] |
Chr4:168924395 [GRCh38] Chr4:169845546 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2182G>C (p.Glu728Gln) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001042889]|not specified [RCV004031302] |
Chr4:168894660 [GRCh38] Chr4:169815811 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2801C>T (p.Pro934Leu) |
single nucleotide variant |
PALLD-related disorder [RCV003405249]|Pancreatic adenocarcinoma [RCV001048556]|not specified [RCV004031514] |
Chr4:168915978 [GRCh38] Chr4:169837129 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2530C>A (p.Gln844Lys) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001052752] |
Chr4:168903814 [GRCh38] Chr4:169824965 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2892T>C (p.Asp964=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000864749]|not specified [RCV004027630] |
Chr4:168921575 [GRCh38] Chr4:169842726 [GRCh37] Chr4:4q32.3 |
benign|likely benign |
NM_001166108.2(PALLD):c.2175G>A (p.Glu725=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001395305]|not specified [RCV004027870] |
Chr4:168894653 [GRCh38] Chr4:169815804 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2906G>A (p.Arg969His) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000822627]|not specified [RCV004029110] |
Chr4:168921589 [GRCh38] Chr4:169842740 [GRCh37] Chr4:4q32.3 |
uncertain significance |
GRCh37/hg19 4q32.3-35.2(chr4:166623890-190957473)x1 |
copy number loss |
not provided [RCV000845722] |
Chr4:166623890..190957473 [GRCh37] Chr4:4q32.3-35.2 |
pathogenic |
NM_001166108.2(PALLD):c.2944G>A (p.Gly982Arg) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000803091]|not specified [RCV004028134] |
Chr4:168921627 [GRCh38] Chr4:169842778 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2627G>A (p.Arg876His) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000805652]|not specified [RCV004028222] |
Chr4:168913931 [GRCh38] Chr4:169835082 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2285T>C (p.Ile762Thr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003169007]|Inborn genetic diseases [RCV002537471]|Pancreatic adenocarcinoma [RCV000820456] |
Chr4:168898527 [GRCh38] Chr4:169819678 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3352G>A (p.Val1118Ile) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001858877] |
Chr4:168925072 [GRCh38] Chr4:169846223 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3301G>A (p.Val1101Met) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000816803]|not specified [RCV004028897] |
Chr4:168925021 [GRCh38] Chr4:169846172 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.*400T>C |
single nucleotide variant |
Pancreatic cancer, susceptibility to, 1 [RCV001150071] |
Chr4:168926580 [GRCh38] Chr4:169847731 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.*2171T>C |
single nucleotide variant |
Pancreatic cancer, susceptibility to, 1 [RCV001150188] |
Chr4:168928351 [GRCh38] Chr4:169849502 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.*1655A>T |
single nucleotide variant |
Pancreatic cancer, susceptibility to, 1 [RCV001145839] |
Chr4:168927835 [GRCh38] Chr4:169848986 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3090T>G (p.Ile1030Met) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000794779]|not specified [RCV004027503] |
Chr4:168924286 [GRCh38] Chr4:169845437 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3229C>T (p.His1077Tyr) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000815300]|not specified [RCV004028847] |
Chr4:168924949 [GRCh38] Chr4:169846100 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2251G>A (p.Glu751Lys) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000810794]|not specified [RCV004028708] |
Chr4:168898493 [GRCh38] Chr4:169819644 [GRCh37] Chr4:4q32.3 |
uncertain significance |
GRCh37/hg19 4q32.3-34.2(chr4:165069355-177189728)x3 |
copy number gain |
not provided [RCV000846267] |
Chr4:165069355..177189728 [GRCh37] Chr4:4q32.3-34.2 |
pathogenic |
NM_001166108.2(PALLD):c.*2027T>C |
single nucleotide variant |
Pancreatic cancer, susceptibility to, 1 [RCV001148606] |
Chr4:168928207 [GRCh38] Chr4:169849358 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.*2141A>G |
single nucleotide variant |
Pancreatic cancer, susceptibility to, 1 [RCV001148607] |
Chr4:168928321 [GRCh38] Chr4:169849472 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.*386T>C |
single nucleotide variant |
Pancreatic cancer, susceptibility to, 1 [RCV001150070] |
Chr4:168926566 [GRCh38] Chr4:169847717 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.*1713T>C |
single nucleotide variant |
Pancreatic cancer, susceptibility to, 1 [RCV001145840] |
Chr4:168927893 [GRCh38] Chr4:169849044 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2975C>T (p.Thr992Met) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003102884]|not specified [RCV004063170] |
Chr4:168921658 [GRCh38] Chr4:169842809 [GRCh37] Chr4:4q32.3 |
likely benign|uncertain significance |
GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3 |
copy number gain |
not provided [RCV000849098] |
Chr4:151174061..190957473 [GRCh37] Chr4:4q31.3-35.2 |
pathogenic |
GRCh37/hg19 4q32.3-35.2(chr4:169607746-190957473)x3 |
copy number gain |
not provided [RCV000847360] |
Chr4:169607746..190957473 [GRCh37] Chr4:4q32.3-35.2 |
pathogenic |
NM_001166108.2(PALLD):c.3005T>C (p.Ile1002Thr) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001220966] |
Chr4:168921688 [GRCh38] Chr4:169842839 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3185A>C (p.Lys1062Thr) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001221563] |
Chr4:168924381 [GRCh38] Chr4:169845532 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3144_3145delinsCT (p.Arg1049Cys) |
indel |
Pancreatic adenocarcinoma [RCV001241025] |
Chr4:168924340..168924341 [GRCh38] Chr4:169845491..169845492 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2674G>A (p.Gly892Ser) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001226144]|not specified [RCV004032563] |
Chr4:168913978 [GRCh38] Chr4:169835129 [GRCh37] Chr4:4q32.3 |
uncertain significance |
GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3 |
copy number gain |
not provided [RCV000849686] |
Chr4:124873497..185278662 [GRCh37] Chr4:4q28.1-35.1 |
pathogenic |
NM_001166108.2(PALLD):c.*439T>C |
single nucleotide variant |
Pancreatic cancer, susceptibility to, 1 [RCV001150072] |
Chr4:168926619 [GRCh38] Chr4:169847770 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.*994A>G |
single nucleotide variant |
Pancreatic cancer, susceptibility to, 1 [RCV001143947] |
Chr4:168927174 [GRCh38] Chr4:169848325 [GRCh37] Chr4:4q32.3 |
benign |
NM_001166108.2(PALLD):c.2686C>T (p.Arg896Trp) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002557181]|Pancreatic cancer, susceptibility to, 1 [RCV001148500]|not specified [RCV004032764] |
Chr4:168913990 [GRCh38] Chr4:169835141 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3058+150A>T |
single nucleotide variant |
not provided [RCV001666284] |
Chr4:168921891 [GRCh38] Chr4:169843042 [GRCh37] Chr4:4q32.3 |
benign |
NM_001166108.2(PALLD):c.2851-108dup |
duplication |
not provided [RCV001718058] |
Chr4:168921406..168921407 [GRCh38] Chr4:169842557..169842558 [GRCh37] Chr4:4q32.3 |
benign |
NM_001166108.2(PALLD):c.2251-55G>A |
single nucleotide variant |
not provided [RCV001609746] |
Chr4:168898438 [GRCh38] Chr4:169819589 [GRCh37] Chr4:4q32.3 |
benign |
NM_001166108.2(PALLD):c.3224+149C>T |
single nucleotide variant |
not provided [RCV001617162] |
Chr4:168924569 [GRCh38] Chr4:169845720 [GRCh37] Chr4:4q32.3 |
benign |
NM_001166108.2(PALLD):c.3358+7_3358+8dup |
duplication |
Pancreatic adenocarcinoma [RCV001414878] |
Chr4:168925084..168925085 [GRCh38] Chr4:169846235..169846236 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2304G>A (p.Arg768=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV000887824]|not specified [RCV004028366] |
Chr4:168898546 [GRCh38] Chr4:169819697 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3226A>G (p.Met1076Val) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001207249] |
Chr4:168924946 [GRCh38] Chr4:169846097 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2704C>A (p.Pro902Thr) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001034889] |
Chr4:168914008 [GRCh38] Chr4:169835159 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3282A>T (p.Glu1094Asp) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001036773] |
Chr4:168925002 [GRCh38] Chr4:169846153 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2199+277A>T |
single nucleotide variant |
not provided [RCV001635966] |
Chr4:168894954 [GRCh38] Chr4:169816105 [GRCh37] Chr4:4q32.3 |
benign |
NM_001166108.2(PALLD):c.3058+28C>G |
single nucleotide variant |
not provided [RCV001669548] |
Chr4:168921769 [GRCh38] Chr4:169842920 [GRCh37] Chr4:4q32.3 |
benign |
NM_001166108.2(PALLD):c.2623-30C>G |
single nucleotide variant |
not provided [RCV001686640] |
Chr4:168913897 [GRCh38] Chr4:169835048 [GRCh37] Chr4:4q32.3 |
benign |
NM_001166108.2(PALLD):c.*33-237del |
deletion |
not provided [RCV001720411] |
Chr4:168925965 [GRCh38] Chr4:169847116 [GRCh37] Chr4:4q32.3 |
benign |
NM_001166108.2(PALLD):c.*203T>A |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001066220] |
Chr4:168926383 [GRCh38] Chr4:169847534 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3058+84T>C |
single nucleotide variant |
not provided [RCV001691059] |
Chr4:168921825 [GRCh38] Chr4:169842976 [GRCh37] Chr4:4q32.3 |
benign |
NM_001166108.2(PALLD):c.2717+152T>G |
single nucleotide variant |
not provided [RCV001680884] |
Chr4:168914173 [GRCh38] Chr4:169835324 [GRCh37] Chr4:4q32.3 |
benign |
NM_001166108.2(PALLD):c.3358+26T>C |
single nucleotide variant |
not provided [RCV001681034] |
Chr4:168925104 [GRCh38] Chr4:169846255 [GRCh37] Chr4:4q32.3 |
benign |
NM_001166108.2(PALLD):c.2851-108del |
deletion |
not provided [RCV001696298] |
Chr4:168921407 [GRCh38] Chr4:169842558 [GRCh37] Chr4:4q32.3 |
benign |
NM_001166108.2(PALLD):c.2867C>T (p.Thr956Ile) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001209825]|Pancreatic cancer, susceptibility to, 1 [RCV001148501] |
Chr4:168921550 [GRCh38] Chr4:169842701 [GRCh37] Chr4:4q32.3 |
likely benign|uncertain significance |
NM_001166108.2(PALLD):c.2884C>G (p.Gln962Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002436832]|Inborn genetic diseases [RCV002561921]|Pancreatic adenocarcinoma [RCV001217304] |
Chr4:168921567 [GRCh38] Chr4:169842718 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.*110G>C |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001207631] |
Chr4:168926290 [GRCh38] Chr4:169847441 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.*461G>A |
single nucleotide variant |
Pancreatic cancer, susceptibility to, 1 [RCV001150073] |
Chr4:168926641 [GRCh38] Chr4:169847792 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2761A>G (p.Ile921Val) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001907591]|not specified [RCV004039772] |
Chr4:168915938 [GRCh38] Chr4:169837089 [GRCh37] Chr4:4q32.3 |
uncertain significance |
GRCh37/hg19 4q32.3-35.2(chr4:165010461-190957473)x1 |
copy number loss |
not provided [RCV001005612] |
Chr4:165010461..190957473 [GRCh37] Chr4:4q32.3-35.2 |
pathogenic |
NM_001166108.2(PALLD):c.*194G>C |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001064251] |
Chr4:168926374 [GRCh38] Chr4:169847525 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3076C>A (p.Pro1026Thr) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001230673]|not specified [RCV004033096] |
Chr4:168924272 [GRCh38] Chr4:169845423 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2899C>T (p.Pro967Ser) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001041385]|not specified [RCV004031247] |
Chr4:168921582 [GRCh38] Chr4:169842733 [GRCh37] Chr4:4q32.3 |
uncertain significance |
GRCh37/hg19 4q32.3(chr4:169723708-169979856)x3 |
copy number gain |
not provided [RCV001259882] |
Chr4:169723708..169979856 [GRCh37] Chr4:4q32.3 |
uncertain significance |
GRCh37/hg19 4q32.3-35.1(chr4:169108358-184425536)x1 |
copy number loss |
See cases [RCV001263167] |
Chr4:169108358..184425536 [GRCh37] Chr4:4q32.3-35.1 |
pathogenic |
NM_001166108.2(PALLD):c.2542G>A (p.Asp848Asn) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001296212]|not specified [RCV004036025] |
Chr4:168903826 [GRCh38] Chr4:169824977 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2340A>C (p.Glu780Asp) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001341456]|not specified [RCV004035965] |
Chr4:168898582 [GRCh38] Chr4:169819733 [GRCh37] Chr4:4q32.3 |
likely benign|uncertain significance |
NM_001166108.2(PALLD):c.3046C>T (p.Leu1016Phe) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001314396] |
Chr4:168921729 [GRCh38] Chr4:169842880 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2264C>A (p.Ser755Tyr) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001327339] |
Chr4:168898506 [GRCh38] Chr4:169819657 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2999C>T (p.Thr1000Ile) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001351329] |
Chr4:168921682 [GRCh38] Chr4:169842833 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.*135C>T |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001343122] |
Chr4:168926315 [GRCh38] Chr4:169847466 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3059-6del |
deletion |
PALLD-related disorder [RCV003946004]|Pancreatic adenocarcinoma [RCV001342644] |
Chr4:168924246 [GRCh38] Chr4:169845397 [GRCh37] Chr4:4q32.3 |
likely benign|uncertain significance |
NM_001166108.2(PALLD):c.*40G>C |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001372320] |
Chr4:168926220 [GRCh38] Chr4:169847371 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2764C>G (p.Gln922Glu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV003169803]|Inborn genetic diseases [RCV002550019]|Pancreatic adenocarcinoma [RCV001361603] |
Chr4:168915941 [GRCh38] Chr4:169837092 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2477A>C (p.Tyr826Ser) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001350870] |
Chr4:168903761 [GRCh38] Chr4:169824912 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2804G>T (p.Gly935Val) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001369123] |
Chr4:168915981 [GRCh38] Chr4:169837132 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2914A>G (p.Ser972Gly) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001304398]|not specified [RCV004036309] |
Chr4:168921597 [GRCh38] Chr4:169842748 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2873A>C (p.Asp958Ala) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001370110] |
Chr4:168921556 [GRCh38] Chr4:169842707 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3133C>T (p.Arg1045Trp) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001373548]|not specified [RCV004037575] |
Chr4:168924329 [GRCh38] Chr4:169845480 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2294T>C (p.Ile765Thr) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001313062] |
Chr4:168898536 [GRCh38] Chr4:169819687 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2549C>A (p.Thr850Asn) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001296723]|not specified [RCV004036044] |
Chr4:168903833 [GRCh38] Chr4:169824984 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2688G>T (p.Arg896=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001422508]|not specified [RCV004038202] |
Chr4:168913992 [GRCh38] Chr4:169835143 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3254G>C (p.Cys1085Ser) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001317781]|not specified [RCV004034433] |
Chr4:168924974 [GRCh38] Chr4:169846125 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2812A>T (p.Thr938Ser) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001344226] |
Chr4:168915989 [GRCh38] Chr4:169837140 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.*185G>T |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001345231] |
Chr4:168926365 [GRCh38] Chr4:169847516 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.*161C>T |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001347595] |
Chr4:168926341 [GRCh38] Chr4:169847492 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2864C>T (p.Pro955Leu) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001372752]|not specified [RCV004037541] |
Chr4:168921547 [GRCh38] Chr4:169842698 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2158G>A (p.Val720Ile) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001313284]|not specified [RCV004034281] |
Chr4:168894636 [GRCh38] Chr4:169815787 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2935C>T (p.Arg979Cys) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001321186]|not specified [RCV004035026] |
Chr4:168921618 [GRCh38] Chr4:169842769 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2790C>A (p.Phe930Leu) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001323682]|not specified [RCV004035106] |
Chr4:168915967 [GRCh38] Chr4:169837118 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2399T>C (p.Leu800Pro) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001307259] |
Chr4:168898641 [GRCh38] Chr4:169819792 [GRCh37] Chr4:4q32.3 |
uncertain significance |
GRCh37/hg19 4q32.1-34.1(chr4:157771352-172496278) |
copy number loss |
Autism with high cognitive abilities [RCV001352663] |
Chr4:157771352..172496278 [GRCh37] Chr4:4q32.1-34.1 |
pathogenic |
NM_001166108.2(PALLD):c.2584G>C (p.Asp862His) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001366138] |
Chr4:168903868 [GRCh38] Chr4:169825019 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.*33C>A |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001359033] |
Chr4:168926213 [GRCh38] Chr4:169847364 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2625C>T (p.Gly875=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001412747]|not specified [RCV004038096] |
Chr4:168913929 [GRCh38] Chr4:169835080 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2275C>G (p.Gln759Glu) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001365430] |
Chr4:168898517 [GRCh38] Chr4:169819668 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3335G>C (p.Cys1112Ser) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001370569]|not specified [RCV004037475] |
Chr4:168925055 [GRCh38] Chr4:169846206 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3069A>G (p.Ala1023=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001461568] |
Chr4:168924265 [GRCh38] Chr4:169845416 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2169T>A (p.Ile723=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001457478] |
Chr4:168894647 [GRCh38] Chr4:169815798 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.*109G>A |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001492232] |
Chr4:168926289 [GRCh38] Chr4:169847440 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3066A>G (p.Glu1022=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001438514]|not specified [RCV004038367] |
Chr4:168924262 [GRCh38] Chr4:169845413 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2988C>T (p.Ala996=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001435470]|not specified [RCV004038337] |
Chr4:168921671 [GRCh38] Chr4:169842822 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2550C>G (p.Thr850=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001473402] |
Chr4:168903834 [GRCh38] Chr4:169824985 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2586T>C (p.Asp862=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001491725]|not specified [RCV004037317] |
Chr4:168903870 [GRCh38] Chr4:169825021 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2901C>T (p.Pro967=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001463895]|not specified [RCV004038626] |
Chr4:168921584 [GRCh38] Chr4:169842735 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3258G>A (p.Leu1086=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001403180]|not specified [RCV004037985] |
Chr4:168924978 [GRCh38] Chr4:169846129 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2851-10T>C |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001446912] |
Chr4:168921524 [GRCh38] Chr4:169842675 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3177T>C (p.Phe1059=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001426899]|not provided [RCV003438790]|not specified [RCV004038242] |
Chr4:168924373 [GRCh38] Chr4:169845524 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2133A>G (p.Arg711=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001434992] |
Chr4:168894611 [GRCh38] Chr4:169815762 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2851-6A>G |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001454755] |
Chr4:168921528 [GRCh38] Chr4:169842679 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2961C>T (p.Ile987=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001457711] |
Chr4:168921644 [GRCh38] Chr4:169842795 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2718-85T>C |
single nucleotide variant |
not provided [RCV001667460] |
Chr4:168915810 [GRCh38] Chr4:169836961 [GRCh37] Chr4:4q32.3 |
benign |
NM_001166108.2(PALLD):c.2862A>G (p.Leu954=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001472820]|not specified [RCV004037133] |
Chr4:168921545 [GRCh38] Chr4:169842696 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3016C>A (p.Arg1006=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001439859]|not specified [RCV004038376] |
Chr4:168921699 [GRCh38] Chr4:169842850 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2319T>C (p.Pro773=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001495981]|not specified [RCV004037357] |
Chr4:168898561 [GRCh38] Chr4:169819712 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3243C>T (p.His1081=) |
single nucleotide variant |
PALLD-related disorder [RCV003938814]|Pancreatic adenocarcinoma [RCV001453291]|not specified [RCV004038520] |
Chr4:168924963 [GRCh38] Chr4:169846114 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2268C>T (p.Ser756=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001423285]|not specified [RCV004038210] |
Chr4:168898510 [GRCh38] Chr4:169819661 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2922C>T (p.His974=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001430207]|not specified [RCV004038282] |
Chr4:168921605 [GRCh38] Chr4:169842756 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2916T>C (p.Ser972=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001461667] |
Chr4:168921599 [GRCh38] Chr4:169842750 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2482T>C (p.Phe828Leu) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002044770] |
Chr4:168903766 [GRCh38] Chr4:169824917 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2156C>T (p.Thr719Ile) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001988442]|not specified [RCV004045249] |
Chr4:168894634 [GRCh38] Chr4:169815785 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3139G>A (p.Glu1047Lys) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002025261] |
Chr4:168924335 [GRCh38] Chr4:169845486 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2810T>A (p.Leu937Gln) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001874855]|not specified [RCV004040567] |
Chr4:168915987 [GRCh38] Chr4:169837138 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.*41C>T |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001895149] |
Chr4:168926221 [GRCh38] Chr4:169847372 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3244G>A (p.Gly1082Ser) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001913887] |
Chr4:168924964 [GRCh38] Chr4:169846115 [GRCh37] Chr4:4q32.3 |
uncertain significance |
GRCh37/hg19 4q32.1-35.2(chr4:159755174-190225765) |
copy number gain |
not specified [RCV002053465] |
Chr4:159755174..190225765 [GRCh37] Chr4:4q32.1-35.2 |
pathogenic |
NM_001166108.2(PALLD):c.*71A>G |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001946551] |
Chr4:168926251 [GRCh38] Chr4:169847402 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.*33C>T |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001911931] |
Chr4:168926213 [GRCh38] Chr4:169847364 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2723G>C (p.Arg908Pro) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002043997] |
Chr4:168915900 [GRCh38] Chr4:169837051 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2923A>G (p.Lys975Glu) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001912049]|not specified [RCV004041077] |
Chr4:168921606 [GRCh38] Chr4:169842757 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2535A>T (p.Arg845Ser) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001964654]|not specified [RCV004041805] |
Chr4:168903819 [GRCh38] Chr4:169824970 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3089T>C (p.Ile1030Thr) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001986355] |
Chr4:168924285 [GRCh38] Chr4:169845436 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3224+14A>G |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001871401] |
Chr4:168924434 [GRCh38] Chr4:169845585 [GRCh37] Chr4:4q32.3 |
likely benign|uncertain significance |
NM_001166108.2(PALLD):c.2987C>T (p.Ala996Val) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001926636]|not specified [RCV004044272] |
Chr4:168921670 [GRCh38] Chr4:169842821 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2101-3T>C |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001969617] |
Chr4:168894576 [GRCh38] Chr4:169815727 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2771G>A (p.Arg924Gln) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001947272]|not specified [RCV004040393] |
Chr4:168915948 [GRCh38] Chr4:169837099 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2722C>T (p.Arg908Cys) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001919181]|not specified [RCV004043378] |
Chr4:168915899 [GRCh38] Chr4:169837050 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2890G>C (p.Asp964His) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001886698] |
Chr4:168921573 [GRCh38] Chr4:169842724 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2719C>G (p.Pro907Ala) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001880716] |
Chr4:168915896 [GRCh38] Chr4:169837047 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2275C>A (p.Gln759Lys) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001944305] |
Chr4:168898517 [GRCh38] Chr4:169819668 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2858G>A (p.Gly953Glu) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002038729]|not specified [RCV004044805] |
Chr4:168921541 [GRCh38] Chr4:169842692 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3158T>C (p.Val1053Ala) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002037991]|not specified [RCV004043240] |
Chr4:168924354 [GRCh38] Chr4:169845505 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2740A>G (p.Ser914Gly) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001904275]|not specified [RCV004039672] |
Chr4:168915917 [GRCh38] Chr4:169837068 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2797G>A (p.Ala933Thr) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002014127]|not specified [RCV004046682] |
Chr4:168915974 [GRCh38] Chr4:169837125 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2901C>G (p.Pro967=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001979299] |
Chr4:168921584 [GRCh38] Chr4:169842735 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.*69A>T |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002051031] |
Chr4:168926249 [GRCh38] Chr4:169847400 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2704C>T (p.Pro902Ser) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001879539] |
Chr4:168914008 [GRCh38] Chr4:169835159 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2338G>C (p.Glu780Gln) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001977712] |
Chr4:168898580 [GRCh38] Chr4:169819731 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3107C>T (p.Thr1036Ile) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001882082] |
Chr4:168924303 [GRCh38] Chr4:169845454 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3358+17C>T |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001934884] |
Chr4:168925095 [GRCh38] Chr4:169846246 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3357C>T (p.Tyr1119=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001937890]|not specified [RCV004042757] |
Chr4:168925077 [GRCh38] Chr4:169846228 [GRCh37] Chr4:4q32.3 |
likely benign|uncertain significance |
NM_001166108.2(PALLD):c.2507C>G (p.Pro836Arg) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001957772] |
Chr4:168903791 [GRCh38] Chr4:169824942 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2803G>A (p.Gly935Arg) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001902456] |
Chr4:168915980 [GRCh38] Chr4:169837131 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2701C>T (p.His901Tyr) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001976303] |
Chr4:168914005 [GRCh38] Chr4:169835156 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2894G>A (p.Gly965Glu) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001916234]|not specified [RCV004042864] |
Chr4:168921577 [GRCh38] Chr4:169842728 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2438T>G (p.Phe813Cys) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001960064]|not specified [RCV004042086] |
Chr4:168898680 [GRCh38] Chr4:169819831 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3134G>A (p.Arg1045Gln) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002019553]|not specified [RCV004045904] |
Chr4:168924330 [GRCh38] Chr4:169845481 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3238A>C (p.Asn1080His) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002014042]|not specified [RCV004046678] |
Chr4:168924958 [GRCh38] Chr4:169846109 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2981G>A (p.Arg994His) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002050788]|not specified [RCV004038795] |
Chr4:168921664 [GRCh38] Chr4:169842815 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2125G>A (p.Ala709Thr) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV001957114] |
Chr4:168894603 [GRCh38] Chr4:169815754 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NC_000004.11:g.(?_169799043)_(170523781_?)dup |
duplication |
Short-rib thoracic dysplasia 6 with or without polydactyly [RCV002030112] |
Chr4:169799043..170523781 [GRCh37] Chr4:4q32.3-33 |
uncertain significance |
NM_001166108.2(PALLD):c.2148C>T (p.Asp716=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002090473]|not specified [RCV004045736] |
Chr4:168894626 [GRCh38] Chr4:169815777 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2850+15T>C |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002087455] |
Chr4:168916042 [GRCh38] Chr4:169837193 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.*43T>C |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002168753] |
Chr4:168926223 [GRCh38] Chr4:169847374 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.*124C>T |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002205245] |
Chr4:168926304 [GRCh38] Chr4:169847455 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.*172G>A |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002091462] |
Chr4:168926352 [GRCh38] Chr4:169847503 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2473-4A>G |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002184983] |
Chr4:168903753 [GRCh38] Chr4:169824904 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2466G>A (p.Lys822=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002191797]|not specified [RCV004047132] |
Chr4:168898708 [GRCh38] Chr4:169819859 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3288T>C (p.Ala1096=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002129472]|not specified [RCV004046303] |
Chr4:168925008 [GRCh38] Chr4:169846159 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2517T>C (p.Asp839=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002169620]|not specified [RCV004044989] |
Chr4:168903801 [GRCh38] Chr4:169824952 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2745A>G (p.Gly915=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002114502]|not specified [RCV004046523] |
Chr4:168915922 [GRCh38] Chr4:169837073 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.*67A>G |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002104812] |
Chr4:168926247 [GRCh38] Chr4:169847398 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2472+13A>G |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002160830] |
Chr4:168898727 [GRCh38] Chr4:169819878 [GRCh37] Chr4:4q32.3 |
benign |
NM_001166108.2(PALLD):c.2101-11_2101-10del |
deletion |
Pancreatic adenocarcinoma [RCV002178638] |
Chr4:168894568..168894569 [GRCh38] Chr4:169815719..169815720 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2874T>C (p.Asp958=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002177890]|not specified [RCV004045072] |
Chr4:168921557 [GRCh38] Chr4:169842708 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2382A>G (p.Pro794=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002139371]|not specified [RCV004046351] |
Chr4:168898624 [GRCh38] Chr4:169819775 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.*100A>G |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002121439] |
Chr4:168926280 [GRCh38] Chr4:169847431 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2623-8T>C |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002182899] |
Chr4:168913919 [GRCh38] Chr4:169835070 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2622+8A>G |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002183271] |
Chr4:168903914 [GRCh38] Chr4:169825065 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2850+8T>G |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002139769] |
Chr4:168916035 [GRCh38] Chr4:169837186 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2904A>G (p.Val968=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002138188]|not specified [RCV004046596] |
Chr4:168921587 [GRCh38] Chr4:169842738 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.*33-14C>G |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002219697] |
Chr4:168926199 [GRCh38] Chr4:169847350 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.*196G>A |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002178793] |
Chr4:168926376 [GRCh38] Chr4:169847527 [GRCh37] Chr4:4q32.3 |
likely benign |
NC_000004.11:g.(?_169433478)_(170523781_?)del |
deletion |
Short-rib thoracic dysplasia 6 with or without polydactyly [RCV003116571] |
Chr4:169433478..170523781 [GRCh37] Chr4:4q32.3-33 |
pathogenic |
NM_001166108.2(PALLD):c.2361T>C (p.Pro787=) |
single nucleotide variant |
not specified [RCV004328016] |
Chr4:168898603 [GRCh38] Chr4:169819754 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3318A>C (p.Glu1106Asp) |
single nucleotide variant |
not specified [RCV004328018] |
Chr4:168925038 [GRCh38] Chr4:169846189 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2301C>T (p.Tyr767=) |
single nucleotide variant |
not specified [RCV004328019] |
Chr4:168898543 [GRCh38] Chr4:169819694 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2875C>A (p.Leu959Ile) |
single nucleotide variant |
not specified [RCV004062331] |
Chr4:168921558 [GRCh38] Chr4:169842709 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2887C>G (p.Leu963Val) |
single nucleotide variant |
not specified [RCV004062368] |
Chr4:168921570 [GRCh38] Chr4:169842721 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2891A>T (p.Asp964Val) |
single nucleotide variant |
not specified [RCV004062386] |
Chr4:168921574 [GRCh38] Chr4:169842725 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2898G>C (p.Lys966Asn) |
single nucleotide variant |
not specified [RCV004062405] |
Chr4:168921581 [GRCh38] Chr4:169842732 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2559C>G (p.Leu853=) |
single nucleotide variant |
not specified [RCV004062044] |
Chr4:168903843 [GRCh38] Chr4:169824994 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2873A>G (p.Asp958Gly) |
single nucleotide variant |
not specified [RCV004062322] |
Chr4:168921556 [GRCh38] Chr4:169842707 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3048T>C (p.Leu1016=) |
single nucleotide variant |
not specified [RCV004065468] |
Chr4:168921731 [GRCh38] Chr4:169842882 [GRCh37] Chr4:4q32.3 |
likely benign |
GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1 |
copy number loss |
See cases [RCV002292401] |
Chr4:159174483..190957473 [GRCh37] Chr4:4q32.1-35.2 |
pathogenic |
NM_001166108.2(PALLD):c.2714G>C (p.Arg905Thr) |
single nucleotide variant |
not specified [RCV004063572] |
Chr4:168914018 [GRCh38] Chr4:169835169 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3065A>C (p.Glu1022Ala) |
single nucleotide variant |
not specified [RCV004065515] |
Chr4:168924261 [GRCh38] Chr4:169845412 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2891A>G (p.Asp964Gly) |
single nucleotide variant |
not specified [RCV004062385] |
Chr4:168921574 [GRCh38] Chr4:169842725 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3070C>T (p.His1024Tyr) |
single nucleotide variant |
not specified [RCV004065526] |
Chr4:168924266 [GRCh38] Chr4:169845417 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2790C>T (p.Phe930=) |
single nucleotide variant |
not specified [RCV004064059] |
Chr4:168915967 [GRCh38] Chr4:169837118 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2945G>A (p.Gly982Glu) |
single nucleotide variant |
not specified [RCV004063075] |
Chr4:168921628 [GRCh38] Chr4:169842779 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2287A>G (p.Ser763Gly) |
single nucleotide variant |
not specified [RCV004061861] |
Chr4:168898529 [GRCh38] Chr4:169819680 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2289T>C (p.Ser763=) |
single nucleotide variant |
not specified [RCV004061869] |
Chr4:168898531 [GRCh38] Chr4:169819682 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2952C>T (p.His984=) |
single nucleotide variant |
not specified [RCV004063105] |
Chr4:168921635 [GRCh38] Chr4:169842786 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3077C>G (p.Pro1026Arg) |
single nucleotide variant |
not specified [RCV004599410] |
Chr4:168924273 [GRCh38] Chr4:169845424 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2295A>G (p.Ile765Met) |
single nucleotide variant |
not specified [RCV004061891] |
Chr4:168898537 [GRCh38] Chr4:169819688 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2928G>A (p.Met976Ile) |
single nucleotide variant |
not specified [RCV004063010] |
Chr4:168921611 [GRCh38] Chr4:169842762 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2661T>C (p.Ala887=) |
single nucleotide variant |
not specified [RCV004062929] |
Chr4:168913965 [GRCh38] Chr4:169835116 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2669A>G (p.Gln890Arg) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003585274]|not specified [RCV004062950] |
Chr4:168913973 [GRCh38] Chr4:169835124 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2659G>A (p.Ala887Thr) |
single nucleotide variant |
not specified [RCV004062915] |
Chr4:168913963 [GRCh38] Chr4:169835114 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2640T>C (p.Thr880=) |
single nucleotide variant |
not specified [RCV004062839] |
Chr4:168913944 [GRCh38] Chr4:169835095 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2685C>G (p.Pro895=) |
single nucleotide variant |
not specified [RCV004063008] |
Chr4:168913989 [GRCh38] Chr4:169835140 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3067G>A (p.Ala1023Thr) |
single nucleotide variant |
not specified [RCV004065520] |
Chr4:168924263 [GRCh38] Chr4:169845414 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2735G>C (p.Arg912Thr) |
single nucleotide variant |
not specified [RCV004063634] |
Chr4:168915912 [GRCh38] Chr4:169837063 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2946G>A (p.Gly982=) |
single nucleotide variant |
not specified [RCV004063077] |
Chr4:168921629 [GRCh38] Chr4:169842780 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3349G>T (p.Asp1117Tyr) |
single nucleotide variant |
not specified [RCV004049484] |
Chr4:168925069 [GRCh38] Chr4:169846220 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2758C>T (p.Pro920Ser) |
single nucleotide variant |
not specified [RCV004063705] |
Chr4:168915935 [GRCh38] Chr4:169837086 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3365G>A (p.Arg1122Gln) |
single nucleotide variant |
PALLD-related disorder [RCV003960997]|not specified [RCV004049532] |
Chr4:168925239 [GRCh38] Chr4:169846390 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2687G>C (p.Arg896Pro) |
single nucleotide variant |
not specified [RCV004063487] |
Chr4:168913991 [GRCh38] Chr4:169835142 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2687G>T (p.Arg896Leu) |
single nucleotide variant |
not specified [RCV004063488] |
Chr4:168913991 [GRCh38] Chr4:169835142 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2781A>G (p.Arg927=) |
single nucleotide variant |
not specified [RCV004064030] |
Chr4:168915958 [GRCh38] Chr4:169837109 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2936G>A (p.Arg979His) |
single nucleotide variant |
not specified [RCV004063044] |
Chr4:168921619 [GRCh38] Chr4:169842770 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2943C>T (p.Asn981=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003102843]|not specified [RCV004063071] |
Chr4:168921626 [GRCh38] Chr4:169842777 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2787C>G (p.His929Gln) |
single nucleotide variant |
not specified [RCV004599401] |
Chr4:168915964 [GRCh38] Chr4:169837115 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2951A>G (p.His984Arg) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003102856]|not specified [RCV004063102] |
Chr4:168921634 [GRCh38] Chr4:169842785 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3344G>A (p.Arg1115Lys) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003099369]|not specified [RCV004049476] |
Chr4:168925064 [GRCh38] Chr4:169846215 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3057T>C (p.Ala1019=) |
single nucleotide variant |
not specified [RCV004065494] |
Chr4:168921740 [GRCh38] Chr4:169842891 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2179G>A (p.Glu727Lys) |
single nucleotide variant |
not specified [RCV004331305] |
Chr4:168894657 [GRCh38] Chr4:169815808 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3345G>A (p.Arg1115=) |
single nucleotide variant |
not specified [RCV004331334] |
Chr4:168925065 [GRCh38] Chr4:169846216 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2113G>A (p.Glu705Lys) |
single nucleotide variant |
not specified [RCV004060376] |
Chr4:168894591 [GRCh38] Chr4:169815742 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2116G>A (p.Glu706Lys) |
single nucleotide variant |
not specified [RCV004060383] |
Chr4:168894594 [GRCh38] Chr4:169815745 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2171A>T (p.Gln724Leu) |
single nucleotide variant |
not specified [RCV004061111] |
Chr4:168894649 [GRCh38] Chr4:169815800 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2538T>C (p.Asp846=) |
single nucleotide variant |
not specified [RCV004328012] |
Chr4:168903822 [GRCh38] Chr4:169824973 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2323G>A (p.Asp775Asn) |
single nucleotide variant |
not specified [RCV004062509] |
Chr4:168898565 [GRCh38] Chr4:169819716 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2128C>T (p.Arg710Cys) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003585269]|not specified [RCV004060431] |
Chr4:168894606 [GRCh38] Chr4:169815757 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2129G>A (p.Arg710His) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003775106]|not specified [RCV004599380] |
Chr4:168894607 [GRCh38] Chr4:169815758 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2644C>A (p.Arg882=) |
single nucleotide variant |
not specified [RCV004062856] |
Chr4:168913948 [GRCh38] Chr4:169835099 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2130T>A (p.Arg710=) |
single nucleotide variant |
not specified [RCV004060445] |
Chr4:168894608 [GRCh38] Chr4:169815759 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2136G>A (p.Leu712=) |
single nucleotide variant |
not specified [RCV004060466] |
Chr4:168894614 [GRCh38] Chr4:169815765 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3195A>G (p.Glu1065=) |
single nucleotide variant |
not specified [RCV004048457] |
Chr4:168924391 [GRCh38] Chr4:169845542 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2473A>G (p.Ile825Val) |
single nucleotide variant |
not specified [RCV004063741] |
Chr4:168903757 [GRCh38] Chr4:169824908 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2593A>T (p.Asn865Tyr) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002455797]|Inborn genetic diseases [RCV003101948] |
Chr4:168903877 [GRCh38] Chr4:169825028 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2580A>G (p.Leu860=) |
single nucleotide variant |
not specified [RCV004062104] |
Chr4:168903864 [GRCh38] Chr4:169825015 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3338C>T (p.Thr1113Ile) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003585250]|not specified [RCV004049455] |
Chr4:168925058 [GRCh38] Chr4:169846209 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2541C>G (p.Leu847=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003585273]|not specified [RCV004063995] |
Chr4:168903825 [GRCh38] Chr4:169824976 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2270G>C (p.Cys757Ser) |
single nucleotide variant |
not specified [RCV004061793] |
Chr4:168898512 [GRCh38] Chr4:169819663 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3222G>C (p.Val1074=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003102320]|not specified [RCV004048829] |
Chr4:168924418 [GRCh38] Chr4:169845569 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3223A>C (p.Ser1075Arg) |
single nucleotide variant |
not specified [RCV004048830] |
Chr4:168924419 [GRCh38] Chr4:169845570 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3151T>C (p.Leu1051=) |
single nucleotide variant |
not specified [RCV004048339] |
Chr4:168924347 [GRCh38] Chr4:169845498 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2405A>C (p.His802Pro) |
single nucleotide variant |
not specified [RCV004063258] |
Chr4:168898647 [GRCh38] Chr4:169819798 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2188A>C (p.Thr730Pro) |
single nucleotide variant |
not specified [RCV004061166] |
Chr4:168894666 [GRCh38] Chr4:169815817 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3015C>G (p.Asn1005Lys) |
single nucleotide variant |
not specified [RCV004065371] |
Chr4:168921698 [GRCh38] Chr4:169842849 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3320C>T (p.Ala1107Val) |
single nucleotide variant |
not specified [RCV004049400] |
Chr4:168925040 [GRCh38] Chr4:169846191 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2153C>T (p.Ala718Val) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003585270]|not specified [RCV004061042] |
Chr4:168894631 [GRCh38] Chr4:169815782 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3017G>C (p.Arg1006Pro) |
single nucleotide variant |
not specified [RCV004065382] |
Chr4:168921700 [GRCh38] Chr4:169842851 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2349T>C (p.Tyr783=) |
single nucleotide variant |
not specified [RCV004062596] |
Chr4:168898591 [GRCh38] Chr4:169819742 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2831T>A (p.Leu944His) |
single nucleotide variant |
not specified [RCV004064202] |
Chr4:168916008 [GRCh38] Chr4:169837159 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2746G>A (p.Asp916Asn) |
single nucleotide variant |
not specified [RCV004063671] |
Chr4:168915923 [GRCh38] Chr4:169837074 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2502C>G (p.Ile834Met) |
single nucleotide variant |
not specified [RCV004063868] |
Chr4:168903786 [GRCh38] Chr4:169824937 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2354A>C (p.Asp785Ala) |
single nucleotide variant |
not specified [RCV004062625] |
Chr4:168898596 [GRCh38] Chr4:169819747 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3130G>A (p.Val1044Met) |
single nucleotide variant |
not specified [RCV004048259] |
Chr4:168924326 [GRCh38] Chr4:169845477 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3099C>A (p.Leu1033=) |
single nucleotide variant |
not specified [RCV004066375] |
Chr4:168924295 [GRCh38] Chr4:169845446 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2758C>A (p.Pro920Thr) |
single nucleotide variant |
not specified [RCV004063703] |
Chr4:168915935 [GRCh38] Chr4:169837086 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2538T>A (p.Asp846Glu) |
single nucleotide variant |
not specified [RCV004063988] |
Chr4:168903822 [GRCh38] Chr4:169824973 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2556C>G (p.Ser852=) |
single nucleotide variant |
not specified [RCV004062035] |
Chr4:168903840 [GRCh38] Chr4:169824991 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2181A>G (p.Glu727=) |
single nucleotide variant |
not specified [RCV004061146] |
Chr4:168894659 [GRCh38] Chr4:169815810 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2370T>C (p.Asn790=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003585272]|not specified [RCV004062675] |
Chr4:168898612 [GRCh38] Chr4:169819763 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2563A>T (p.Thr855Ser) |
single nucleotide variant |
not specified [RCV004062061] |
Chr4:168903847 [GRCh38] Chr4:169824998 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3108A>G (p.Thr1036=) |
single nucleotide variant |
not specified [RCV004066399] |
Chr4:168924304 [GRCh38] Chr4:169845455 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2171A>G (p.Gln724Arg) |
single nucleotide variant |
not specified [RCV004061110] |
Chr4:168894649 [GRCh38] Chr4:169815800 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2552G>T (p.Cys851Phe) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003101897]|not specified [RCV004062027] |
Chr4:168903836 [GRCh38] Chr4:169824987 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2372G>T (p.Gly791Val) |
single nucleotide variant |
not specified [RCV004062680] |
Chr4:168898614 [GRCh38] Chr4:169819765 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3189A>G (p.Glu1063=) |
single nucleotide variant |
not specified [RCV004048437] |
Chr4:168924385 [GRCh38] Chr4:169845536 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3229C>A (p.His1077Asn) |
single nucleotide variant |
not specified [RCV004048842] |
Chr4:168924949 [GRCh38] Chr4:169846100 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2336A>G (p.Asp779Gly) |
single nucleotide variant |
not specified [RCV004062549] |
Chr4:168898578 [GRCh38] Chr4:169819729 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2176C>G (p.Pro726Ala) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003746644]|not specified [RCV004061127] |
Chr4:168894654 [GRCh38] Chr4:169815805 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2575A>G (p.Thr859Ala) |
single nucleotide variant |
not specified [RCV004062092] |
Chr4:168903859 [GRCh38] Chr4:169825010 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2395A>G (p.Lys799Glu) |
single nucleotide variant |
not specified [RCV004063229] |
Chr4:168898637 [GRCh38] Chr4:169819788 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2681G>C (p.Ser894Thr) |
single nucleotide variant |
not specified [RCV004062995] |
Chr4:168913985 [GRCh38] Chr4:169835136 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2383T>C (p.Phe795Leu) |
single nucleotide variant |
not specified [RCV004062716] |
Chr4:168898625 [GRCh38] Chr4:169819776 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2266A>G (p.Ser756Gly) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003098721]|not specified [RCV004061779] |
Chr4:168898508 [GRCh38] Chr4:169819659 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2619T>C (p.Pro873=) |
single nucleotide variant |
not specified [RCV004062765] |
Chr4:168903903 [GRCh38] Chr4:169825054 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3167C>T (p.Pro1056Leu) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003099211]|not specified [RCV004048381] |
Chr4:168924363 [GRCh38] Chr4:169845514 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2271T>C (p.Cys757=) |
single nucleotide variant |
not specified [RCV004061804] |
Chr4:168898513 [GRCh38] Chr4:169819664 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2814T>C (p.Thr938=) |
single nucleotide variant |
not specified [RCV004064156] |
Chr4:168915991 [GRCh38] Chr4:169837142 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2427G>A (p.Met809Ile) |
single nucleotide variant |
not specified [RCV004063339] |
Chr4:168898669 [GRCh38] Chr4:169819820 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2429C>A (p.Pro810Gln) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003746645]|not specified [RCV004063346] |
Chr4:168898671 [GRCh38] Chr4:169819822 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2832C>T (p.Leu944=) |
single nucleotide variant |
not specified [RCV004064205] |
Chr4:168916009 [GRCh38] Chr4:169837160 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3268G>C (p.Gly1090Arg) |
single nucleotide variant |
not specified [RCV004048991] |
Chr4:168924988 [GRCh38] Chr4:169846139 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2359C>T (p.Pro787Ser) |
single nucleotide variant |
not specified [RCV004062637] |
Chr4:168898601 [GRCh38] Chr4:169819752 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2955T>G (p.Ser985=) |
single nucleotide variant |
not specified [RCV004063113] |
Chr4:168921638 [GRCh38] Chr4:169842789 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2959A>T (p.Ile987Phe) |
single nucleotide variant |
not specified [RCV004063125] |
Chr4:168921642 [GRCh38] Chr4:169842793 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3212C>A (p.Thr1071Asn) |
single nucleotide variant |
not specified [RCV004048507] |
Chr4:168924408 [GRCh38] Chr4:169845559 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2490T>C (p.Asp830=) |
single nucleotide variant |
not specified [RCV004063811] |
Chr4:168903774 [GRCh38] Chr4:169824925 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3000A>G (p.Thr1000=) |
single nucleotide variant |
not specified [RCV004065313] |
Chr4:168921683 [GRCh38] Chr4:169842834 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2635T>A (p.Cys879Ser) |
single nucleotide variant |
not specified [RCV004062822] |
Chr4:168913939 [GRCh38] Chr4:169835090 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3215A>C (p.Asp1072Ala) |
single nucleotide variant |
not specified [RCV004048805] |
Chr4:168924411 [GRCh38] Chr4:169845562 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2302A>C (p.Arg768=) |
single nucleotide variant |
not specified [RCV004061912] |
Chr4:168898544 [GRCh38] Chr4:169819695 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2707C>T (p.His903Tyr) |
single nucleotide variant |
not specified [RCV004063551] |
Chr4:168914011 [GRCh38] Chr4:169835162 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2493G>A (p.Gly831=) |
single nucleotide variant |
not specified [RCV004063830] |
Chr4:168903777 [GRCh38] Chr4:169824928 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3148G>A (p.Val1050Ile) |
single nucleotide variant |
not specified [RCV004048307] |
Chr4:168924344 [GRCh38] Chr4:169845495 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3150A>T (p.Val1050=) |
single nucleotide variant |
not specified [RCV004048311] |
Chr4:168924346 [GRCh38] Chr4:169845497 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2988C>G (p.Ala996=) |
single nucleotide variant |
not specified [RCV004063196] |
Chr4:168921671 [GRCh38] Chr4:169842822 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2867C>A (p.Thr956Asn) |
single nucleotide variant |
not specified [RCV004062304] |
Chr4:168921550 [GRCh38] Chr4:169842701 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2346G>A (p.Gln782=) |
single nucleotide variant |
not specified [RCV004062589] |
Chr4:168898588 [GRCh38] Chr4:169819739 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3003T>C (p.Cys1001=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003585277]|not specified [RCV004065334] |
Chr4:168921686 [GRCh38] Chr4:169842837 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2311A>C (p.Arg771=) |
single nucleotide variant |
not specified [RCV004061950] |
Chr4:168898553 [GRCh38] Chr4:169819704 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3310A>G (p.Lys1104Glu) |
single nucleotide variant |
not specified [RCV004049374] |
Chr4:168925030 [GRCh38] Chr4:169846181 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3203C>A (p.Thr1068Asn) |
single nucleotide variant |
not specified [RCV004048478] |
Chr4:168924399 [GRCh38] Chr4:169845550 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3239A>G (p.Asn1080Ser) |
single nucleotide variant |
not specified [RCV004048874] |
Chr4:168924959 [GRCh38] Chr4:169846110 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3267G>C (p.Gln1089His) |
single nucleotide variant |
not specified [RCV004048986] |
Chr4:168924987 [GRCh38] Chr4:169846138 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3163C>T (p.Pro1055Ser) |
single nucleotide variant |
not specified [RCV004048370] |
Chr4:168924359 [GRCh38] Chr4:169845510 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2404C>T (p.His802Tyr) |
single nucleotide variant |
not specified [RCV004063257] |
Chr4:168898646 [GRCh38] Chr4:169819797 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3015C>T (p.Asn1005=) |
single nucleotide variant |
not specified [RCV004065372] |
Chr4:168921698 [GRCh38] Chr4:169842849 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3314A>G (p.Asn1105Ser) |
single nucleotide variant |
not specified [RCV004049391] |
Chr4:168925034 [GRCh38] Chr4:169846185 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2151T>G (p.Ser717Arg) |
single nucleotide variant |
not specified [RCV004061036] |
Chr4:168894629 [GRCh38] Chr4:169815780 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2451G>C (p.Val817=) |
single nucleotide variant |
not specified [RCV004063414] |
Chr4:168898693 [GRCh38] Chr4:169819844 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2612C>A (p.Ala871Glu) |
single nucleotide variant |
not specified [RCV004062228] |
Chr4:168903896 [GRCh38] Chr4:169825047 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2424A>G (p.Gly808=) |
single nucleotide variant |
not specified [RCV004063326] |
Chr4:168898666 [GRCh38] Chr4:169819817 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2696C>T (p.Ser899Leu) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003102062]|not specified [RCV004063518] |
Chr4:168914000 [GRCh38] Chr4:169835151 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3248A>G (p.Tyr1083Cys) |
single nucleotide variant |
not specified [RCV004048908] |
Chr4:168924968 [GRCh38] Chr4:169846119 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3367C>T (p.His1123Tyr) |
single nucleotide variant |
not specified [RCV004049537] |
Chr4:168925241 [GRCh38] Chr4:169846392 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2412G>C (p.Lys804Asn) |
single nucleotide variant |
not specified [RCV004063297] |
Chr4:168898654 [GRCh38] Chr4:169819805 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2591G>A (p.Gly864Glu) |
single nucleotide variant |
not specified [RCV004062154] |
Chr4:168903875 [GRCh38] Chr4:169825026 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2792T>C (p.Leu931Ser) |
single nucleotide variant |
not specified [RCV004064083] |
Chr4:168915969 [GRCh38] Chr4:169837120 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3333C>T (p.Ser1111=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003585249]|not specified [RCV004049448] |
Chr4:168925053 [GRCh38] Chr4:169846204 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2446A>G (p.Arg816Gly) |
single nucleotide variant |
not specified [RCV004063388] |
Chr4:168898688 [GRCh38] Chr4:169819839 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2814T>A (p.Thr938=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003102192]|not specified [RCV004064155] |
Chr4:168915991 [GRCh38] Chr4:169837142 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2829A>G (p.Lys943=) |
single nucleotide variant |
not specified [RCV004064192] |
Chr4:168916006 [GRCh38] Chr4:169837157 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3104A>C (p.Asn1035Thr) |
single nucleotide variant |
not specified [RCV004066394] |
Chr4:168924300 [GRCh38] Chr4:169845451 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2807A>C (p.Asp936Ala) |
single nucleotide variant |
not specified [RCV004064123] |
Chr4:168915984 [GRCh38] Chr4:169837135 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2453C>T (p.Ala818Val) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003775229]|not specified [RCV004063418] |
Chr4:168898695 [GRCh38] Chr4:169819846 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2454T>C (p.Ala818=) |
single nucleotide variant |
not specified [RCV004063424] |
Chr4:168898696 [GRCh38] Chr4:169819847 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2960T>A (p.Ile987Asn) |
single nucleotide variant |
not specified [RCV004063129] |
Chr4:168921643 [GRCh38] Chr4:169842794 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2574C>T (p.Ser858=) |
single nucleotide variant |
not specified [RCV004062091] |
Chr4:168903858 [GRCh38] Chr4:169825009 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2535A>G (p.Arg845=) |
single nucleotide variant |
not specified [RCV004063974] |
Chr4:168903819 [GRCh38] Chr4:169824970 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2539C>G (p.Leu847Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002430880]|Inborn genetic diseases [RCV003101876]|Pancreatic adenocarcinoma [RCV003775268] |
Chr4:168903823 [GRCh38] Chr4:169824974 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2992A>G (p.Ile998Val) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002440170]|Inborn genetic diseases [RCV003289511] |
Chr4:168921675 [GRCh38] Chr4:169842826 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2999C>G (p.Thr1000Arg) |
single nucleotide variant |
not specified [RCV004065311] |
Chr4:168921682 [GRCh38] Chr4:169842833 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2989G>A (p.Gly997Ser) |
single nucleotide variant |
not specified [RCV004599404] |
Chr4:168921672 [GRCh38] Chr4:169842823 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2771G>C (p.Arg924Pro) |
single nucleotide variant |
not specified [RCV004064010] |
Chr4:168915948 [GRCh38] Chr4:169837099 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2283C>T (p.Leu761=) |
single nucleotide variant |
not specified [RCV004061839] |
Chr4:168898525 [GRCh38] Chr4:169819676 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3135G>A (p.Arg1045=) |
single nucleotide variant |
not specified [RCV004048273] |
Chr4:168924331 [GRCh38] Chr4:169845482 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3114T>C (p.Val1038=) |
single nucleotide variant |
not specified [RCV004066419] |
Chr4:168924310 [GRCh38] Chr4:169845461 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2436T>C (p.Thr812=) |
single nucleotide variant |
not specified [RCV004063368] |
Chr4:168898678 [GRCh38] Chr4:169819829 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2354A>T (p.Asp785Val) |
single nucleotide variant |
not specified [RCV004062626] |
Chr4:168898596 [GRCh38] Chr4:169819747 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3216C>T (p.Asp1072=) |
single nucleotide variant |
not specified [RCV004048809] |
Chr4:168924412 [GRCh38] Chr4:169845563 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3217C>A (p.Arg1073=) |
single nucleotide variant |
not specified [RCV004048814] |
Chr4:168924413 [GRCh38] Chr4:169845564 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2366A>G (p.Glu789Gly) |
single nucleotide variant |
not specified [RCV004062664] |
Chr4:168898608 [GRCh38] Chr4:169819759 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2418T>G (p.Phe806Leu) |
single nucleotide variant |
not specified [RCV004063308] |
Chr4:168898660 [GRCh38] Chr4:169819811 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3273C>T (p.Ala1091=) |
single nucleotide variant |
not specified [RCV004049018] |
Chr4:168924993 [GRCh38] Chr4:169846144 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2409C>T (p.Tyr803=) |
single nucleotide variant |
not specified [RCV004063277] |
Chr4:168898651 [GRCh38] Chr4:169819802 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3241C>T (p.His1081Tyr) |
single nucleotide variant |
not specified [RCV004048889] |
Chr4:168924961 [GRCh38] Chr4:169846112 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2778C>T (p.Phe926=) |
single nucleotide variant |
not specified [RCV004064024] |
Chr4:168915955 [GRCh38] Chr4:169837106 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3286G>T (p.Ala1096Ser) |
single nucleotide variant |
not specified [RCV004049048] |
Chr4:168925006 [GRCh38] Chr4:169846157 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3361T>C (p.Ser1121Pro) |
single nucleotide variant |
not specified [RCV004049523] |
Chr4:168925235 [GRCh38] Chr4:169846386 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3283G>C (p.Asp1095His) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003099319]|not specified [RCV004049043] |
Chr4:168925003 [GRCh38] Chr4:169846154 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3237C>T (p.Asp1079=) |
single nucleotide variant |
not specified [RCV004048867] |
Chr4:168924957 [GRCh38] Chr4:169846108 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2457A>G (p.Gly819=) |
single nucleotide variant |
not specified [RCV004063428] |
Chr4:168898699 [GRCh38] Chr4:169819850 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2728A>G (p.Arg910Gly) |
single nucleotide variant |
not specified [RCV004063609] |
Chr4:168915905 [GRCh38] Chr4:169837056 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3307G>T (p.Ala1103Ser) |
single nucleotide variant |
not specified [RCV004049368] |
Chr4:168925027 [GRCh38] Chr4:169846178 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3315T>C (p.Asn1105=) |
single nucleotide variant |
not specified [RCV004049397] |
Chr4:168925035 [GRCh38] Chr4:169846186 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2184G>C (p.Glu728Asp) |
single nucleotide variant |
not specified [RCV004061155] |
Chr4:168894662 [GRCh38] Chr4:169815813 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3018A>G (p.Arg1006=) |
single nucleotide variant |
not specified [RCV004065384] |
Chr4:168921701 [GRCh38] Chr4:169842852 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3303G>A (p.Val1101=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003099333]|not specified [RCV004049356] |
Chr4:168925023 [GRCh38] Chr4:169846174 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3009T>G (p.Ala1003=) |
single nucleotide variant |
not specified [RCV004065352] |
Chr4:168921692 [GRCh38] Chr4:169842843 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2477A>G (p.Tyr826Cys) |
single nucleotide variant |
not specified [RCV004063757] |
Chr4:168903761 [GRCh38] Chr4:169824912 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3132G>A (p.Val1044=) |
single nucleotide variant |
not specified [RCV004048269] |
Chr4:168924328 [GRCh38] Chr4:169845479 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2324A>C (p.Asp775Ala) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003585271]|not specified [RCV004062513] |
Chr4:168898566 [GRCh38] Chr4:169819717 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3030C>T (p.Asn1010=) |
single nucleotide variant |
not specified [RCV004065412] |
Chr4:168921713 [GRCh38] Chr4:169842864 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3332C>A (p.Ser1111Tyr) |
single nucleotide variant |
not specified [RCV004049443] |
Chr4:168925052 [GRCh38] Chr4:169846203 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2510A>G (p.Lys837Arg) |
single nucleotide variant |
not specified [RCV004063889] |
Chr4:168903794 [GRCh38] Chr4:169824945 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2511G>A (p.Lys837=) |
single nucleotide variant |
not specified [RCV004063897] |
Chr4:168903795 [GRCh38] Chr4:169824946 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3033A>G (p.Ser1011=) |
single nucleotide variant |
not specified [RCV004065427] |
Chr4:168921716 [GRCh38] Chr4:169842867 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2255A>T (p.Tyr752Phe) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003101126]|not specified [RCV004061744] |
Chr4:168898497 [GRCh38] Chr4:169819648 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2152G>A (p.Ala718Thr) |
single nucleotide variant |
not specified [RCV004061040] |
Chr4:168894630 [GRCh38] Chr4:169815781 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2334T>C (p.Gly778=) |
single nucleotide variant |
not specified [RCV004062545] |
Chr4:168898576 [GRCh38] Chr4:169819727 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3266A>C (p.Gln1089Pro) |
single nucleotide variant |
not specified [RCV004048983] |
Chr4:168924986 [GRCh38] Chr4:169846137 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2569G>A (p.Ala857Thr) |
single nucleotide variant |
not specified [RCV004062075] |
Chr4:168903853 [GRCh38] Chr4:169825004 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2523C>T (p.Tyr841=) |
single nucleotide variant |
not specified [RCV004063933] |
Chr4:168903807 [GRCh38] Chr4:169824958 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3186A>G (p.Lys1062=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003099225]|not specified [RCV004048424] |
Chr4:168924382 [GRCh38] Chr4:169845533 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3190A>G (p.Asn1064Asp) |
single nucleotide variant |
not specified [RCV004048444] |
Chr4:168924386 [GRCh38] Chr4:169845537 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2355T>C (p.Asp785=) |
single nucleotide variant |
not specified [RCV004062629] |
Chr4:168898597 [GRCh38] Chr4:169819748 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2802T>C (p.Pro934=) |
single nucleotide variant |
not specified [RCV004064110] |
Chr4:168915979 [GRCh38] Chr4:169837130 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2798C>A (p.Ala933Asp) |
single nucleotide variant |
not specified [RCV004064093] |
Chr4:168915975 [GRCh38] Chr4:169837126 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2480G>C (p.Trp827Ser) |
single nucleotide variant |
not specified [RCV004063768] |
Chr4:168903764 [GRCh38] Chr4:169824915 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2488G>T (p.Asp830Tyr) |
single nucleotide variant |
not specified [RCV004063800] |
Chr4:168903772 [GRCh38] Chr4:169824923 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2793G>A (p.Leu931=) |
single nucleotide variant |
not specified [RCV004064085] |
Chr4:168915970 [GRCh38] Chr4:169837121 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2657A>G (p.Gln886Arg) |
single nucleotide variant |
not specified [RCV004062908] |
Chr4:168913961 [GRCh38] Chr4:169835112 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2808T>C (p.Asp936=) |
single nucleotide variant |
not specified [RCV004064130] |
Chr4:168915985 [GRCh38] Chr4:169837136 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2671A>C (p.Arg891=) |
single nucleotide variant |
not specified [RCV004062967] |
Chr4:168913975 [GRCh38] Chr4:169835126 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3209G>C (p.Ser1070Thr) |
single nucleotide variant |
not specified [RCV004048495] |
Chr4:168924405 [GRCh38] Chr4:169845556 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2957T>C (p.Leu986Pro) |
single nucleotide variant |
not specified [RCV004063121] |
Chr4:168921640 [GRCh38] Chr4:169842791 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2320G>A (p.Val774Met) |
single nucleotide variant |
not specified [RCV004062497] |
Chr4:168898562 [GRCh38] Chr4:169819713 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2500A>C (p.Ile834Leu) |
single nucleotide variant |
Hereditary cancer-predisposing syndrome [RCV002430683]|Inborn genetic diseases [RCV003101831] |
Chr4:168903784 [GRCh38] Chr4:169824935 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2502C>A (p.Ile834=) |
single nucleotide variant |
not specified [RCV004063866] |
Chr4:168903786 [GRCh38] Chr4:169824937 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2718-3A>C |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002968109] |
Chr4:168915892 [GRCh38] Chr4:169837043 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2199+16G>A |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002681664] |
Chr4:168894693 [GRCh38] Chr4:169815844 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2101-20T>G |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003014084] |
Chr4:168894559 [GRCh38] Chr4:169815710 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2225T>C (p.Val742Ala) |
single nucleotide variant |
PALLD-related disorder [RCV003963775]|not specified [RCV004214404] |
Chr4:168896574 [GRCh38] Chr4:169817725 [GRCh37] Chr4:4q32.3 |
likely benign|uncertain significance |
NM_032783.5(CBR4):c.385T>A (p.Ser129Thr) |
single nucleotide variant |
not specified [RCV004101141] |
Chr4:169006770 [GRCh38] Chr4:169927921 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3059-20T>C |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002881668] |
Chr4:168924235 [GRCh38] Chr4:169845386 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2808T>A (p.Asp936Glu) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002903756] |
Chr4:168915985 [GRCh38] Chr4:169837136 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2785C>A (p.His929Asn) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002592070] |
Chr4:168915962 [GRCh38] Chr4:169837113 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.*96A>T |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002886690]|not specified [RCV004066190] |
Chr4:168926276 [GRCh38] Chr4:169847427 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2274A>G (p.Glu758=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003036168]|not specified [RCV004070086] |
Chr4:168898516 [GRCh38] Chr4:169819667 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.*33-8C>T |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002636635] |
Chr4:168926205 [GRCh38] Chr4:169847356 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.*71_*73dup |
duplication |
Pancreatic adenocarcinoma [RCV002691029] |
Chr4:168926246..168926247 [GRCh38] Chr4:169847397..169847398 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2199+18A>G |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003037165] |
Chr4:168894695 [GRCh38] Chr4:169815846 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.*37G>T |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003079824] |
Chr4:168926217 [GRCh38] Chr4:169847368 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2298G>A (p.Glu766=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002948417]|not specified [RCV004067321] |
Chr4:168898540 [GRCh38] Chr4:169819691 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_032783.5(CBR4):c.514A>G (p.Arg172Gly) |
single nucleotide variant |
not specified [RCV004096489] |
Chr4:169002092 [GRCh38] Chr4:169923243 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3058+15G>A |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003058718] |
Chr4:168921756 [GRCh38] Chr4:169842907 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3006A>G (p.Ile1002Met) |
single nucleotide variant |
not specified [RCV004130768] |
Chr4:168921689 [GRCh38] Chr4:169842840 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2944G>C (p.Gly982Arg) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002766686]|not specified [RCV004064645] |
Chr4:168921627 [GRCh38] Chr4:169842778 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2392A>G (p.Met798Val) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002644190] |
Chr4:168898634 [GRCh38] Chr4:169819785 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.*63A>G |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002928831] |
Chr4:168926243 [GRCh38] Chr4:169847394 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_032783.5(CBR4):c.178G>A (p.Glu60Lys) |
single nucleotide variant |
not specified [RCV004176040] |
Chr4:169007721 [GRCh38] Chr4:169928872 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2251-12T>C |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002962165] |
Chr4:168898481 [GRCh38] Chr4:169819632 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2516A>G (p.Asp839Gly) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002629397] |
Chr4:168903800 [GRCh38] Chr4:169824951 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3261C>T (p.Leu1087=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003048546] |
Chr4:168924981 [GRCh38] Chr4:169846132 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2670A>C (p.Gln890His) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002629262] |
Chr4:168913974 [GRCh38] Chr4:169835125 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_032783.5(CBR4):c.160A>T (p.Ser54Cys) |
single nucleotide variant |
not specified [RCV004089747] |
Chr4:169007739 [GRCh38] Chr4:169928890 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2260G>A (p.Val754Ile) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003852763] |
Chr4:168898502 [GRCh38] Chr4:169819653 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.*93G>A |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002611874] |
Chr4:168926273 [GRCh38] Chr4:169847424 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3052G>A (p.Val1018Ile) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002612246] |
Chr4:168921735 [GRCh38] Chr4:169842886 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2531A>G (p.Gln844Arg) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV002603064] |
Chr4:168903815 [GRCh38] Chr4:169824966 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3068C>G (p.Ala1023Gly) |
single nucleotide variant |
not specified [RCV004275288] |
Chr4:168924264 [GRCh38] Chr4:169845415 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2797G>C (p.Ala933Pro) |
single nucleotide variant |
not specified [RCV004281501] |
Chr4:168915974 [GRCh38] Chr4:169837125 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2859G>A (p.Gly953=) |
single nucleotide variant |
not specified [RCV004243156] |
Chr4:168921542 [GRCh38] Chr4:169842693 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3272C>T (p.Ala1091Val) |
single nucleotide variant |
not specified [RCV004243166] |
Chr4:168924992 [GRCh38] Chr4:169846143 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2123T>A (p.Met708Lys) |
single nucleotide variant |
not specified [RCV004243176] |
Chr4:168894601 [GRCh38] Chr4:169815752 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2555C>G (p.Ser852Cys) |
single nucleotide variant |
not specified [RCV004243177] |
Chr4:168903839 [GRCh38] Chr4:169824990 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2602A>G (p.Ile868Val) |
single nucleotide variant |
not specified [RCV004281504] |
Chr4:168903886 [GRCh38] Chr4:169825037 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3077C>T (p.Pro1026Leu) |
single nucleotide variant |
not specified [RCV004281506] |
Chr4:168924273 [GRCh38] Chr4:169845424 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3209G>A (p.Ser1070Asn) |
single nucleotide variant |
not specified [RCV004281508] |
Chr4:168924405 [GRCh38] Chr4:169845556 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3248A>T (p.Tyr1083Phe) |
single nucleotide variant |
not specified [RCV004281511] |
Chr4:168924968 [GRCh38] Chr4:169846119 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_032783.5(CBR4):c.335T>C (p.Met112Thr) |
single nucleotide variant |
not specified [RCV004274883] |
Chr4:169006820 [GRCh38] Chr4:169927971 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2809C>G (p.Leu937Val) |
single nucleotide variant |
not specified [RCV004247306] |
Chr4:168915986 [GRCh38] Chr4:169837137 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3078C>T (p.Pro1026=) |
single nucleotide variant |
not specified [RCV004331301] |
Chr4:168924274 [GRCh38] Chr4:169845425 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3159G>A (p.Val1053=) |
single nucleotide variant |
not specified [RCV004331317] |
Chr4:168924355 [GRCh38] Chr4:169845506 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2762T>C (p.Ile921Thr) |
single nucleotide variant |
not specified [RCV004331319] |
Chr4:168915939 [GRCh38] Chr4:169837090 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2740A>C (p.Ser914Arg) |
single nucleotide variant |
not specified [RCV004243154] |
Chr4:168915917 [GRCh38] Chr4:169837068 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_032783.5(CBR4):c.175A>G (p.Lys59Glu) |
single nucleotide variant |
not specified [RCV004255068] |
Chr4:169007724 [GRCh38] Chr4:169928875 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2478T>C (p.Tyr826=) |
single nucleotide variant |
not specified [RCV004243122] |
Chr4:168903762 [GRCh38] Chr4:169824913 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3202A>G (p.Thr1068Ala) |
single nucleotide variant |
not specified [RCV004243124] |
Chr4:168924398 [GRCh38] Chr4:169845549 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2830C>T (p.Leu944Phe) |
single nucleotide variant |
not specified [RCV004243126] |
Chr4:168916007 [GRCh38] Chr4:169837158 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2358G>A (p.Val786=) |
single nucleotide variant |
not specified [RCV004243127] |
Chr4:168898600 [GRCh38] Chr4:169819751 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3032C>T (p.Ser1011Leu) |
single nucleotide variant |
not specified [RCV004243138] |
Chr4:168921715 [GRCh38] Chr4:169842866 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2844C>T (p.Asp948=) |
single nucleotide variant |
not specified [RCV004243139] |
Chr4:168916021 [GRCh38] Chr4:169837172 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2973C>A (p.Val991=) |
single nucleotide variant |
not specified [RCV004243158] |
Chr4:168921656 [GRCh38] Chr4:169842807 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2903T>G (p.Val968Gly) |
single nucleotide variant |
not specified [RCV004243162] |
Chr4:168921586 [GRCh38] Chr4:169842737 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2328A>G (p.Glu776=) |
single nucleotide variant |
not specified [RCV004243174] |
Chr4:168898570 [GRCh38] Chr4:169819721 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2274A>C (p.Glu758Asp) |
single nucleotide variant |
not specified [RCV004243178] |
Chr4:168898516 [GRCh38] Chr4:169819667 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2718G>A (p.Arg906=) |
single nucleotide variant |
not specified [RCV004243189] |
Chr4:168915895 [GRCh38] Chr4:169837046 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3201C>T (p.Leu1067=) |
single nucleotide variant |
not specified [RCV004247329] |
Chr4:168924397 [GRCh38] Chr4:169845548 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2547G>T (p.Gly849=) |
single nucleotide variant |
not specified [RCV004243143] |
Chr4:168903831 [GRCh38] Chr4:169824982 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3149T>C (p.Val1050Ala) |
single nucleotide variant |
not specified [RCV004243150] |
Chr4:168924345 [GRCh38] Chr4:169845496 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2183A>T (p.Glu728Val) |
single nucleotide variant |
not specified [RCV004243151] |
Chr4:168894661 [GRCh38] Chr4:169815812 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3079C>G (p.Pro1027Ala) |
single nucleotide variant |
not specified [RCV004243165] |
Chr4:168924275 [GRCh38] Chr4:169845426 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2468C>T (p.Pro823Leu) |
single nucleotide variant |
not specified [RCV004243172] |
Chr4:168898710 [GRCh38] Chr4:169819861 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2324A>G (p.Asp775Gly) |
single nucleotide variant |
not specified [RCV004243184] |
Chr4:168898566 [GRCh38] Chr4:169819717 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2442A>C (p.Thr814=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003778970]|not specified [RCV004243186] |
Chr4:168898684 [GRCh38] Chr4:169819835 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3214G>A (p.Asp1072Asn) |
single nucleotide variant |
PALLD-related disorder [RCV003396952]|not specified [RCV004281485] |
Chr4:168924410 [GRCh38] Chr4:169845561 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3309C>A (p.Ala1103=) |
single nucleotide variant |
not specified [RCV004281486] |
Chr4:168925029 [GRCh38] Chr4:169846180 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3059C>G (p.Ala1020Gly) |
single nucleotide variant |
not specified [RCV004281493] |
Chr4:168924255 [GRCh38] Chr4:169845406 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2495A>G (p.Lys832Arg) |
single nucleotide variant |
not specified [RCV004326145] |
Chr4:168903779 [GRCh38] Chr4:169824930 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2610T>C (p.Ala870=) |
single nucleotide variant |
not specified [RCV004326148] |
Chr4:168903894 [GRCh38] Chr4:169825045 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2623G>A (p.Gly875Ser) |
single nucleotide variant |
not specified [RCV004326149] |
Chr4:168913927 [GRCh38] Chr4:169835078 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2643A>G (p.Gly881=) |
single nucleotide variant |
not specified [RCV004366319] |
Chr4:168913947 [GRCh38] Chr4:169835098 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2823A>C (p.Glu941Asp) |
single nucleotide variant |
not specified [RCV004366328] |
Chr4:168916000 [GRCh38] Chr4:169837151 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3188A>G (p.Glu1063Gly) |
single nucleotide variant |
not specified [RCV004366292] |
Chr4:168924384 [GRCh38] Chr4:169845535 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2405A>G (p.His802Arg) |
single nucleotide variant |
not specified [RCV004366304] |
Chr4:168898647 [GRCh38] Chr4:169819798 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3128C>A (p.Pro1043Gln) |
single nucleotide variant |
not specified [RCV004366307] |
Chr4:168924324 [GRCh38] Chr4:169845475 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2856T>C (p.Ser952=) |
single nucleotide variant |
not specified [RCV004366296] |
Chr4:168921539 [GRCh38] Chr4:169842690 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2355T>A (p.Asp785Glu) |
single nucleotide variant |
not specified [RCV004366317] |
Chr4:168898597 [GRCh38] Chr4:169819748 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3336T>C (p.Cys1112=) |
single nucleotide variant |
not specified [RCV004366299] |
Chr4:168925056 [GRCh38] Chr4:169846207 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2266A>T (p.Ser756Cys) |
single nucleotide variant |
not specified [RCV004366300] |
Chr4:168898508 [GRCh38] Chr4:169819659 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2133A>C (p.Arg711=) |
single nucleotide variant |
not specified [RCV004366301] |
Chr4:168894611 [GRCh38] Chr4:169815762 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2157T>C (p.Thr719=) |
single nucleotide variant |
not specified [RCV004366295] |
Chr4:168894635 [GRCh38] Chr4:169815786 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2606T>C (p.Met869Thr) |
single nucleotide variant |
not specified [RCV004366323] |
Chr4:168903890 [GRCh38] Chr4:169825041 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3171G>C (p.Gln1057His) |
single nucleotide variant |
not specified [RCV004366326] |
Chr4:168924367 [GRCh38] Chr4:169845518 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2384T>G (p.Phe795Cys) |
single nucleotide variant |
not specified [RCV004337514] |
Chr4:168898626 [GRCh38] Chr4:169819777 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2261T>A (p.Val754Asp) |
single nucleotide variant |
not specified [RCV004362246] |
Chr4:168898503 [GRCh38] Chr4:169819654 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_032783.5(CBR4):c.478C>T (p.Arg160Cys) |
single nucleotide variant |
not specified [RCV004336631] |
Chr4:169002128 [GRCh38] Chr4:169923279 [GRCh37] Chr4:4q32.3 |
uncertain significance |
GRCh37/hg19 4q32.3-35.2(chr4:167409608-190957473)x3 |
copy number gain |
not provided [RCV003484595] |
Chr4:167409608..190957473 [GRCh37] Chr4:4q32.3-35.2 |
pathogenic |
NM_001166108.2(PALLD):c.3221T>G (p.Val1074Gly) |
single nucleotide variant |
PALLD-related disorder [RCV003417110] |
Chr4:168924417 [GRCh38] Chr4:169845568 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.*57del |
deletion |
Pancreatic adenocarcinoma [RCV003584267] |
Chr4:168926237 [GRCh38] Chr4:169847388 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2998A>G (p.Thr1000Ala) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003835012] |
Chr4:168921681 [GRCh38] Chr4:169842832 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2800C>T (p.Pro934Ser) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003585436] |
Chr4:168915977 [GRCh38] Chr4:169837128 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2120G>C (p.Arg707Thr) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003585587] |
Chr4:168894598 [GRCh38] Chr4:169815749 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.*112C>T |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003584177] |
Chr4:168926292 [GRCh38] Chr4:169847443 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2473-10C>G |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003584151] |
Chr4:168903747 [GRCh38] Chr4:169824898 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3045G>A (p.Glu1015=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003585561] |
Chr4:168921728 [GRCh38] Chr4:169842879 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2254T>C (p.Tyr752His) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003814827] |
Chr4:168898496 [GRCh38] Chr4:169819647 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2747A>G (p.Asp916Gly) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003837211] |
Chr4:168915924 [GRCh38] Chr4:169837075 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3225-16_3225-15del |
deletion |
Pancreatic adenocarcinoma [RCV003854951] |
Chr4:168924928..168924929 [GRCh38] Chr4:169846079..169846080 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2622+3A>G |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003746727] |
Chr4:168903909 [GRCh38] Chr4:169825060 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3224+18G>A |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003746849] |
Chr4:168924438 [GRCh38] Chr4:169845589 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.*136G>T |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003746078] |
Chr4:168926316 [GRCh38] Chr4:169847467 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2491G>A (p.Gly831Arg) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003746081] |
Chr4:168903775 [GRCh38] Chr4:169824926 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.*182T>A |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003857009] |
Chr4:168926362 [GRCh38] Chr4:169847513 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2472+8G>A |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003746394] |
Chr4:168898722 [GRCh38] Chr4:169819873 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2853C>T (p.Val951=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003746404]|not specified [RCV004654309] |
Chr4:168921536 [GRCh38] Chr4:169842687 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2708A>G (p.His903Arg) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003746926] |
Chr4:168914012 [GRCh38] Chr4:169835163 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2428C>T (p.Pro810Ser) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003746938] |
Chr4:168898670 [GRCh38] Chr4:169819821 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2949G>A (p.Val983=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003747673] |
Chr4:168921632 [GRCh38] Chr4:169842783 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3059-6T>C |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003746453] |
Chr4:168924249 [GRCh38] Chr4:169845400 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2815G>A (p.Val939Ile) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003746901] |
Chr4:168915992 [GRCh38] Chr4:169837143 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2988C>A (p.Ala996=) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003746991] |
Chr4:168921671 [GRCh38] Chr4:169842822 [GRCh37] Chr4:4q32.3 |
likely benign |
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 |
copy number gain |
not specified [RCV003986496] |
Chr4:101203509..190957473 [GRCh37] Chr4:4q24-35.2 |
pathogenic |
NM_001166108.2(PALLD):c.2147A>T (p.Asp716Val) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003746735] |
Chr4:168894625 [GRCh38] Chr4:169815776 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2850+4A>C |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003746783] |
Chr4:168916031 [GRCh38] Chr4:169837182 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.*136G>C |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003863452] |
Chr4:168926316 [GRCh38] Chr4:169847467 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2101-11dup |
duplication |
Pancreatic adenocarcinoma [RCV003747578] |
Chr4:168894567..168894568 [GRCh38] Chr4:169815718..169815719 [GRCh37] Chr4:4q32.3 |
likely benign |
GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1 |
copy number loss |
not specified [RCV003986532] |
Chr4:161589441..190957473 [GRCh37] Chr4:4q32.1-35.2 |
pathogenic |
GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3 |
copy number gain |
not specified [RCV003986533] |
Chr4:123399154..190957473 [GRCh37] Chr4:4q27-35.2 |
pathogenic |
NM_032783.5(CBR4):c.401-11_401-8del |
deletion |
not provided [RCV003552020] |
Chr4:169002213..169002216 [GRCh38] Chr4:169923364..169923367 [GRCh37] Chr4:4q32.3 |
benign |
NM_001166108.2(PALLD):c.2473-18C>T |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003747652] |
Chr4:168903739 [GRCh38] Chr4:169824890 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.*73A>T |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003747180] |
Chr4:168926253 [GRCh38] Chr4:169847404 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3225-18C>G |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003747203] |
Chr4:168924927 [GRCh38] Chr4:169846078 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2818C>A (p.Gln940Lys) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003870403] |
Chr4:168915995 [GRCh38] Chr4:169837146 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3059-13C>T |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003747676] |
Chr4:168924242 [GRCh38] Chr4:169845393 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3017G>A (p.Arg1006Gln) |
single nucleotide variant |
Pancreatic adenocarcinoma [RCV003747670] |
Chr4:168921700 [GRCh38] Chr4:169842851 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2159T>C (p.Val720Ala) |
single nucleotide variant |
not specified [RCV004521943] |
Chr4:168894637 [GRCh38] Chr4:169815788 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2261T>C (p.Val754Ala) |
single nucleotide variant |
not specified [RCV004521944] |
Chr4:168898503 [GRCh38] Chr4:169819654 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2242G>C (p.Gly748Arg) |
single nucleotide variant |
PALLD-related disorder [RCV003977159] |
Chr4:168896591 [GRCh38] Chr4:169817742 [GRCh37] Chr4:4q32.3 |
uncertain significance |
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 |
copy number gain |
not provided [RCV003885507] |
Chr4:45455621..191003541 [GRCh37] Chr4:4p12-q35.2 |
pathogenic |
NM_001166108.2(PALLD):c.2315C>G (p.Ser772Cys) |
single nucleotide variant |
not specified [RCV004521945] |
Chr4:168898557 [GRCh38] Chr4:169819708 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2369A>G (p.Asn790Ser) |
single nucleotide variant |
not specified [RCV004521946] |
Chr4:168898611 [GRCh38] Chr4:169819762 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2595T>G (p.Asn865Lys) |
single nucleotide variant |
not specified [RCV004521950] |
Chr4:168903879 [GRCh38] Chr4:169825030 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2621A>C (p.Gln874Pro) |
single nucleotide variant |
not specified [RCV004521951] |
Chr4:168903905 [GRCh38] Chr4:169825056 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2672G>C (p.Arg891Thr) |
single nucleotide variant |
not specified [RCV004521953] |
Chr4:168913976 [GRCh38] Chr4:169835127 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3326T>C (p.Ile1109Thr) |
single nucleotide variant |
not specified [RCV004521976] |
Chr4:168925046 [GRCh38] Chr4:169846197 [GRCh37] Chr4:4q32.3 |
uncertain significance |
GRCh37/hg19 4q32.3-35.2(chr4:169060637-191154276)x1 |
copy number loss |
not provided [RCV003885510] |
Chr4:169060637..191154276 [GRCh37] Chr4:4q32.3-35.2 |
pathogenic |
NM_001166108.2(PALLD):c.2929C>T (p.Leu977=) |
single nucleotide variant |
not specified [RCV004521964] |
Chr4:168921612 [GRCh38] Chr4:169842763 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2391G>A (p.Glu797=) |
single nucleotide variant |
not specified [RCV004521947] |
Chr4:168898633 [GRCh38] Chr4:169819784 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3020C>G (p.Ala1007Gly) |
single nucleotide variant |
not specified [RCV004521967] |
Chr4:168921703 [GRCh38] Chr4:169842854 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2508A>G (p.Pro836=) |
single nucleotide variant |
not specified [RCV004521948] |
Chr4:168903792 [GRCh38] Chr4:169824943 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3309C>T (p.Ala1103=) |
single nucleotide variant |
not specified [RCV004521975] |
Chr4:168925029 [GRCh38] Chr4:169846180 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2526C>T (p.Thr842=) |
single nucleotide variant |
not specified [RCV004521949] |
Chr4:168903810 [GRCh38] Chr4:169824961 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3287C>G (p.Ala1096Gly) |
single nucleotide variant |
not specified [RCV004521973] |
Chr4:168925007 [GRCh38] Chr4:169846158 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3254G>T (p.Cys1085Phe) |
single nucleotide variant |
not specified [RCV004521971] |
Chr4:168924974 [GRCh38] Chr4:169846125 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2950C>T (p.His984Tyr) |
single nucleotide variant |
not specified [RCV004521966] |
Chr4:168921633 [GRCh38] Chr4:169842784 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2902G>T (p.Val968Leu) |
single nucleotide variant |
not specified [RCV004521962] |
Chr4:168921585 [GRCh38] Chr4:169842736 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3253T>C (p.Cys1085Arg) |
single nucleotide variant |
not specified [RCV004521970] |
Chr4:168924973 [GRCh38] Chr4:169846124 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2683C>A (p.Pro895Thr) |
single nucleotide variant |
not specified [RCV004521955] |
Chr4:168913987 [GRCh38] Chr4:169835138 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2675G>T (p.Gly892Val) |
single nucleotide variant |
not specified [RCV004521954] |
Chr4:168913979 [GRCh38] Chr4:169835130 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2915G>A (p.Ser972Asn) |
single nucleotide variant |
not specified [RCV004521963] |
Chr4:168921598 [GRCh38] Chr4:169842749 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3165A>T (p.Pro1055=) |
single nucleotide variant |
not specified [RCV004521968] |
Chr4:168924361 [GRCh38] Chr4:169845512 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2896A>C (p.Lys966Gln) |
single nucleotide variant |
not specified [RCV004521961] |
Chr4:168921579 [GRCh38] Chr4:169842730 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2888T>C (p.Leu963Pro) |
single nucleotide variant |
not specified [RCV004521960] |
Chr4:168921571 [GRCh38] Chr4:169842722 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2887C>T (p.Leu963=) |
single nucleotide variant |
not specified [RCV004521959] |
Chr4:168921570 [GRCh38] Chr4:169842721 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2813C>T (p.Thr938Ile) |
single nucleotide variant |
not specified [RCV004521957] |
Chr4:168915990 [GRCh38] Chr4:169837141 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2709T>C (p.His903=) |
single nucleotide variant |
not specified [RCV004521956] |
Chr4:168914013 [GRCh38] Chr4:169835164 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_032783.5(CBR4):c.359G>A (p.Arg120Lys) |
single nucleotide variant |
not specified [RCV004432418] |
Chr4:169006796 [GRCh38] Chr4:169927947 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_032783.5(CBR4):c.550G>C (p.Asp184His) |
single nucleotide variant |
not specified [RCV004432420] |
Chr4:168990314 [GRCh38] Chr4:169911465 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2627G>T (p.Arg876Leu) |
single nucleotide variant |
not specified [RCV004500031] |
Chr4:168913931 [GRCh38] Chr4:169835082 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_032783.5(CBR4):c.136C>G (p.Leu46Val) |
single nucleotide variant |
not specified [RCV004432416] |
Chr4:169009954 [GRCh38] Chr4:169931105 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_032783.5(CBR4):c.355A>G (p.Met119Val) |
single nucleotide variant |
not specified [RCV004432417] |
Chr4:169006800 [GRCh38] Chr4:169927951 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_032783.5(CBR4):c.530C>T (p.Ala177Val) |
single nucleotide variant |
not specified [RCV004432419] |
Chr4:169002076 [GRCh38] Chr4:169923227 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2548A>G (p.Thr850Ala) |
single nucleotide variant |
not specified [RCV004500030] |
Chr4:168903832 [GRCh38] Chr4:169824983 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.*93G>C |
single nucleotide variant |
not specified [RCV004500037] |
Chr4:168926273 [GRCh38] Chr4:169847424 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_032783.5(CBR4):c.360G>T (p.Arg120Ser) |
single nucleotide variant |
not specified [RCV004602685] |
Chr4:169006795 [GRCh38] Chr4:169927946 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2617C>A (p.Pro873Thr) |
single nucleotide variant |
not specified [RCV004664057] |
Chr4:168903901 [GRCh38] Chr4:169825052 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2623G>T (p.Gly875Cys) |
single nucleotide variant |
not specified [RCV004664069] |
Chr4:168913927 [GRCh38] Chr4:169835078 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2497C>A (p.Gln833Lys) |
single nucleotide variant |
not specified [RCV004664094] |
Chr4:168903781 [GRCh38] Chr4:169824932 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_032783.5(CBR4):c.197C>T (p.Thr66Ile) |
single nucleotide variant |
not specified [RCV004602686] |
Chr4:169007702 [GRCh38] Chr4:169928853 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2597A>G (p.Tyr866Cys) |
single nucleotide variant |
not specified [RCV004664086] |
Chr4:168903881 [GRCh38] Chr4:169825032 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2783C>T (p.Pro928Leu) |
single nucleotide variant |
not specified [RCV004664062] |
Chr4:168915960 [GRCh38] Chr4:169837111 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2191G>A (p.Ala731Thr) |
single nucleotide variant |
not specified [RCV004664066] |
Chr4:168894669 [GRCh38] Chr4:169815820 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2157T>G (p.Thr719=) |
single nucleotide variant |
not specified [RCV004664085] |
Chr4:168894635 [GRCh38] Chr4:169815786 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2117A>G (p.Glu706Gly) |
single nucleotide variant |
not specified [RCV004664087] |
Chr4:168894595 [GRCh38] Chr4:169815746 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3105C>T (p.Asn1035=) |
single nucleotide variant |
not specified [RCV004664097] |
Chr4:168924301 [GRCh38] Chr4:169845452 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2560C>T (p.His854Tyr) |
single nucleotide variant |
not specified [RCV004664101] |
Chr4:168903844 [GRCh38] Chr4:169824995 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3248A>C (p.Tyr1083Ser) |
single nucleotide variant |
not specified [RCV004664050] |
Chr4:168924968 [GRCh38] Chr4:169846119 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3175T>C (p.Phe1059Leu) |
single nucleotide variant |
not specified [RCV004664070] |
Chr4:168924371 [GRCh38] Chr4:169845522 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2335G>A (p.Asp779Asn) |
single nucleotide variant |
not specified [RCV004664099] |
Chr4:168898577 [GRCh38] Chr4:169819728 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2686C>G (p.Arg896Gly) |
single nucleotide variant |
not specified [RCV004650762] |
Chr4:168913990 [GRCh38] Chr4:169835141 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2662G>A (p.Val888Ile) |
single nucleotide variant |
not specified [RCV004650768] |
Chr4:168913966 [GRCh38] Chr4:169835117 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3229C>G (p.His1077Asp) |
single nucleotide variant |
not specified [RCV004650770] |
Chr4:168924949 [GRCh38] Chr4:169846100 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2183A>G (p.Glu728Gly) |
single nucleotide variant |
not specified [RCV004650773] |
Chr4:168894661 [GRCh38] Chr4:169815812 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2557C>T (p.Leu853Phe) |
single nucleotide variant |
not specified [RCV004650778] |
Chr4:168903841 [GRCh38] Chr4:169824992 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3219A>T (p.Arg1073=) |
single nucleotide variant |
not specified [RCV004650780] |
Chr4:168924415 [GRCh38] Chr4:169845566 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.3362C>A (p.Ser1121Tyr) |
single nucleotide variant |
not specified [RCV004650794] |
Chr4:168925236 [GRCh38] Chr4:169846387 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3074A>T (p.Lys1025Ile) |
single nucleotide variant |
not specified [RCV004650797] |
Chr4:168924270 [GRCh38] Chr4:169845421 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2798C>G (p.Ala933Gly) |
single nucleotide variant |
not specified [RCV004650800] |
Chr4:168915975 [GRCh38] Chr4:169837126 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2572T>A (p.Ser858Thr) |
single nucleotide variant |
not specified [RCV004650801] |
Chr4:168903856 [GRCh38] Chr4:169825007 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2777T>A (p.Phe926Tyr) |
single nucleotide variant |
not specified [RCV004650805] |
Chr4:168915954 [GRCh38] Chr4:169837105 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3300T>G (p.Thr1100=) |
single nucleotide variant |
not specified [RCV004664058] |
Chr4:168925020 [GRCh38] Chr4:169846171 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2719C>T (p.Pro907Ser) |
single nucleotide variant |
not specified [RCV004664064] |
Chr4:168915896 [GRCh38] Chr4:169837047 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3196T>A (p.Ser1066Thr) |
single nucleotide variant |
not specified [RCV004664077] |
Chr4:168924392 [GRCh38] Chr4:169845543 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2705C>A (p.Pro902His) |
single nucleotide variant |
not specified [RCV004664079] |
Chr4:168914009 [GRCh38] Chr4:169835160 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.3285T>C (p.Asp1095=) |
single nucleotide variant |
not specified [RCV004664051] |
Chr4:168925005 [GRCh38] Chr4:169846156 [GRCh37] Chr4:4q32.3 |
likely benign |
NM_001166108.2(PALLD):c.2132G>T (p.Arg711Leu) |
single nucleotide variant |
not specified [RCV004650771] |
Chr4:168894610 [GRCh38] Chr4:169815761 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2345A>G (p.Gln782Arg) |
single nucleotide variant |
not specified [RCV004650785] |
Chr4:168898587 [GRCh38] Chr4:169819738 [GRCh37] Chr4:4q32.3 |
uncertain significance |
NM_001166108.2(PALLD):c.2291A>C (p.Glu764Ala) |
single nucleotide variant |
not specified [RCV004664091] |
Chr4:168898533 [GRCh38] Chr4:169819684 [GRCh37] Chr4:4q32.3 |
uncertain significance |