GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 |
copy number gain |
See cases [RCV000051159] |
Chr7:54185..41875885 [GRCh38] Chr7:54185..41915483 [GRCh37] Chr7:149268..41882008 [NCBI36] Chr7:7p22.3-14.1 |
pathogenic |
GRCh38/hg38 7p21.3-15.3(chr7:8274775-21988311)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052280]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052280]|See cases [RCV000052280] |
Chr7:8274775..21988311 [GRCh38] Chr7:8314405..22027929 [GRCh37] Chr7:8280930..21994454 [NCBI36] Chr7:7p21.3-15.3 |
pathogenic |
GRCh38/hg38 7p21.3-21.1(chr7:9975653-19356878)x1 |
copy number loss |
See cases [RCV000052281] |
Chr7:9975653..19356878 [GRCh38] Chr7:10015280..19396501 [GRCh37] Chr7:9981805..19363026 [NCBI36] Chr7:7p21.3-21.1 |
pathogenic |
GRCh38/hg38 7p21.2-21.1(chr7:14959516-19467349)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052288]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052288]|See cases [RCV000052288] |
Chr7:14959516..19467349 [GRCh38] Chr7:14999141..19506972 [GRCh37] Chr7:14965666..19473497 [NCBI36] Chr7:7p21.2-21.1 |
pathogenic |
GRCh38/hg38 7p21.2-21.1(chr7:15133711-19642829)x1 |
copy number loss |
See cases [RCV000052289] |
Chr7:15133711..19642829 [GRCh38] Chr7:15173336..19682452 [GRCh37] Chr7:15139861..19648977 [NCBI36] Chr7:7p21.2-21.1 |
pathogenic |
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 |
copy number loss |
See cases [RCV000052250] |
Chr7:53985..159282531 [GRCh38] Chr7:53985..159075220 [GRCh37] Chr7:149068..158767981 [NCBI36] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh38/hg38 7p22.3-15.3(chr7:53985-24361531)x3 |
copy number gain |
See cases [RCV000053528] |
Chr7:53985..24361531 [GRCh38] Chr7:53985..24401150 [GRCh37] Chr7:149068..24367675 [NCBI36] Chr7:7p22.3-15.3 |
pathogenic |
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 |
copy number gain |
See cases [RCV000053530] |
Chr7:54185..37089712 [GRCh38] Chr7:54185..37129317 [GRCh37] Chr7:149268..37095842 [NCBI36] Chr7:7p22.3-14.2 |
pathogenic |
GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3 |
copy number gain |
See cases [RCV000053531] |
Chr7:16234212..26167278 [GRCh38] Chr7:16273837..26206898 [GRCh37] Chr7:16240362..26173423 [NCBI36] Chr7:7p21.2-15.2 |
pathogenic |
GRCh38/hg38 7p21.2-21.1(chr7:14904894-16925094)x1 |
copy number loss |
See cases [RCV000133737] |
Chr7:14904894..16925094 [GRCh38] Chr7:14944519..16964718 [GRCh37] Chr7:14911044..16931243 [NCBI36] Chr7:7p21.2-21.1 |
pathogenic |
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 |
copy number loss |
See cases [RCV000135401] |
Chr7:54185..159282390 [GRCh38] Chr7:54185..159075079 [GRCh37] Chr7:149268..158767840 [NCBI36] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3 |
copy number gain |
See cases [RCV000136557] |
Chr7:54185..26827634 [GRCh38] Chr7:54185..26867253 [GRCh37] Chr7:149268..26833778 [NCBI36] Chr7:7p22.3-15.2 |
pathogenic |
GRCh38/hg38 7p21.2-21.1(chr7:13966197-18321354)x1 |
copy number loss |
See cases [RCV000136932] |
Chr7:13966197..18321354 [GRCh38] Chr7:14005822..18360977 [GRCh37] Chr7:13972347..18327502 [NCBI36] Chr7:7p21.2-21.1 |
pathogenic |
GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3 |
copy number gain |
See cases [RCV000136649] |
Chr7:5682209..27230311 [GRCh38] Chr7:5721840..27269930 [GRCh37] Chr7:5688366..27236455 [NCBI36] Chr7:7p22.1-15.2 |
pathogenic |
GRCh38/hg38 7p21.2-21.1(chr7:16121516-20607899)x1 |
copy number loss |
See cases [RCV000137236] |
Chr7:16121516..20607899 [GRCh38] Chr7:16161141..20647522 [GRCh37] Chr7:16127666..20614047 [NCBI36] Chr7:7p21.2-21.1 |
pathogenic |
GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3 |
copy number gain |
See cases [RCV000137824] |
Chr7:45130..25221165 [GRCh38] Chr7:45130..25260784 [GRCh37] Chr7:140213..25227309 [NCBI36] Chr7:7p22.3-15.3 |
pathogenic |
GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1 |
copy number loss |
See cases [RCV000137924] |
Chr7:15533812..24851432 [GRCh38] Chr7:15573437..24891051 [GRCh37] Chr7:15539962..24857576 [NCBI36] Chr7:7p21.2-15.3 |
pathogenic |
GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3 |
copy number gain |
See cases [RCV000143060] |
Chr7:1698124..27207295 [GRCh38] Chr7:1737760..27246914 [GRCh37] Chr7:1704286..27213439 [NCBI36] Chr7:7p22.3-15.2 |
pathogenic |
GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1 |
copy number loss |
See cases [RCV000142708] |
Chr7:10610069..25760560 [GRCh38] Chr7:10649696..25800180 [GRCh37] Chr7:10616221..25766705 [NCBI36] Chr7:7p21.3-15.2 |
pathogenic |
GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3 |
copy number gain |
See cases [RCV000143586] |
Chr7:43360..27196404 [GRCh38] Chr7:43360..27236023 [GRCh37] Chr7:138443..27202548 [NCBI36] Chr7:7p22.3-15.2 |
pathogenic |
GRCh37/hg19 7p21.1(chr7:16838232-17753807)x3 |
copy number gain |
See cases [RCV000511336] |
Chr7:16838232..17753807 [GRCh37] Chr7:7p21.1 |
uncertain significance |
GRCh37/hg19 7p22.3-21.1(chr7:43360-17656861)x3 |
copy number gain |
See cases [RCV000449347] |
Chr7:43360..17656861 [GRCh37] Chr7:7p22.3-21.1 |
pathogenic |
TMEM106B-BRAF fusion |
deletion |
Pleomorphic xanthoastrocytoma [RCV000454357] |
Chr7:12258147..140494267 [GRCh37] Chr7:7p21.3-q34 |
pathogenic |
GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3 |
copy number gain |
See cases [RCV000446478] |
Chr7:11562624..36395416 [GRCh37] Chr7:7p21.3-14.2 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 |
copy number loss |
See cases [RCV000446044] |
Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3 |
copy number gain |
See cases [RCV000512091] |
Chr7:11048840..52863626 [GRCh37] Chr7:7p21.3-12.1 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) |
copy number gain |
See cases [RCV000510686] |
Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3 |
copy number gain |
See cases [RCV000510652] |
Chr7:43360..23674928 [GRCh37] Chr7:7p22.3-15.3 |
pathogenic |
GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3 |
copy number gain |
See cases [RCV000510275] |
Chr7:704573..29257946 [GRCh37] Chr7:7p22.3-14.3 |
pathogenic |
GRCh37/hg19 7p21.2-21.1(chr7:14675063-18907030)x1 |
copy number loss |
See cases [RCV000511411] |
Chr7:14675063..18907030 [GRCh37] Chr7:7p21.2-21.1 |
likely pathogenic |
GRCh37/hg19 7p21.3-21.1(chr7:7660104-18400293)x3 |
copy number gain |
See cases [RCV000511575] |
Chr7:7660104..18400293 [GRCh37] Chr7:7p21.3-21.1 |
uncertain significance |
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 |
copy number gain |
See cases [RCV000511549] |
Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7p21.1(chr7:16717618-16847653)x1 |
copy number loss |
not provided [RCV000682793] |
Chr7:16717618..16847653 [GRCh37] Chr7:7p21.1 |
uncertain significance |
GRCh37/hg19 7p21.1(chr7:16515348-17451988)x3 |
copy number gain |
not provided [RCV000682876] |
Chr7:16515348..17451988 [GRCh37] Chr7:7p21.1 |
uncertain significance |
GRCh37/hg19 7p21.2-15.3(chr7:14544155-21719929)x3 |
copy number gain |
not provided [RCV000682908] |
Chr7:14544155..21719929 [GRCh37] Chr7:7p21.2-15.3 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 |
copy number gain |
not provided [RCV000746278] |
Chr7:10704..159122532 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 |
copy number gain |
not provided [RCV000746280] |
Chr7:44935..159126310 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 |
copy number gain |
not provided [RCV000848126] |
Chr7:10365..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7p21.2-21.1(chr7:13886653-20267202)x1 |
copy number loss |
not provided [RCV001005911] |
Chr7:13886653..20267202 [GRCh37] Chr7:7p21.2-21.1 |
pathogenic |
GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3 |
copy number gain |
not provided [RCV000848100] |
Chr7:43376..19520619 [GRCh37] Chr7:7p22.3-21.1 |
pathogenic |
GRCh37/hg19 7p21.1(chr7:16838232-17753807)x3 |
copy number gain |
not provided [RCV001005920] |
Chr7:16838232..17753807 [GRCh37] Chr7:7p21.1 |
likely benign |
GRCh37/hg19 7p21.1(chr7:16534711-17205201)x3 |
copy number gain |
not provided [RCV000846173] |
Chr7:16534711..17205201 [GRCh37] Chr7:7p21.1 |
uncertain significance |
NC_000007.13:g.(?_16131320)_(17382688_?)del |
deletion |
not provided [RCV003107443] |
Chr7:16131320..17382688 [GRCh37] Chr7:7p21.2-21.1 |
uncertain significance |
GRCh37/hg19 7p21.2-21.1(chr7:15639869-16963424)x3 |
copy number gain |
not provided [RCV002472895] |
Chr7:15639869..16963424 [GRCh37] Chr7:7p21.2-21.1 |
uncertain significance |
GRCh37/hg19 7p21.2-21.1(chr7:16027951-17081157)x3 |
copy number gain |
not provided [RCV001005919] |
Chr7:16027951..17081157 [GRCh37] Chr7:7p21.2-21.1 |
likely benign |
GRCh37/hg19 7p21.2-21.1(chr7:14470668-20385165)x1 |
copy number loss |
Saethre-Chotzen syndrome [RCV001263216] |
Chr7:14470668..20385165 [GRCh37] Chr7:7p21.2-21.1 |
pathogenic |
GRCh37/hg19 7p21.2-21.1(chr7:16279316-18429845)x1 |
copy number loss |
not provided [RCV001259423] |
Chr7:16279316..18429845 [GRCh37] Chr7:7p21.2-21.1 |
uncertain significance |
NM_006408.4(AGR2):c.442C>A (p.Arg148Ser) |
single nucleotide variant |
not specified [RCV004305693] |
Chr7:16794972 [GRCh38] Chr7:16834596 [GRCh37] Chr7:7p21.1 |
uncertain significance |
Single allele |
complex |
Ring chromosome 7 [RCV002280646] |
Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7p21.1(chr7:16781824-16944995)x1 |
copy number loss |
not provided [RCV001834175] |
Chr7:16781824..16944995 [GRCh37] Chr7:7p21.1 |
uncertain significance |
GRCh37/hg19 7p21.3-21.1(chr7:7909867-17213072)x1 |
copy number loss |
not provided [RCV001836593] |
Chr7:7909867..17213072 [GRCh37] Chr7:7p21.3-21.1 |
uncertain significance |
GRCh37/hg19 7p21.3-15.3(chr7:9358316-20982082) |
copy number loss |
not specified [RCV002053667] |
Chr7:9358316..20982082 [GRCh37] Chr7:7p21.3-15.3 |
pathogenic |
GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167) |
copy number gain |
not specified [RCV002053668] |
Chr7:10745750..35305167 [GRCh37] Chr7:7p21.3-14.2 |
likely pathogenic |
NM_006408.4(AGR2):c.211C>A (p.Pro71Thr) |
single nucleotide variant |
Respiratory infections, recurrent, and failure to thrive with or without diarrhea [RCV003152493] |
Chr7:16801196 [GRCh38] Chr7:16840820 [GRCh37] Chr7:7p21.1 |
pathogenic|likely pathogenic |
GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3 |
copy number gain |
See cases [RCV002287567] |
Chr7:43360..19485604 [GRCh37] Chr7:7p22.3-21.1 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 |
copy number loss |
See cases [RCV002287832] |
Chr7:56604613..96692931 [GRCh37] Chr7:7p22.3-q36.3 |
uncertain significance |
NM_006408.4(AGR2):c.349C>T (p.His117Tyr) |
single nucleotide variant |
Respiratory infections, recurrent, and failure to thrive with or without diarrhea [RCV003152494] |
Chr7:16797676 [GRCh38] Chr7:16837300 [GRCh37] Chr7:7p21.1 |
pathogenic|likely pathogenic |
NM_006408.4(AGR2):c.268G>A (p.Val90Met) |
single nucleotide variant |
not specified [RCV004214620] |
Chr7:16799806 [GRCh38] Chr7:16839430 [GRCh37] Chr7:7p21.1 |
uncertain significance |
NM_006408.4(AGR2):c.330+1G>T |
single nucleotide variant |
Respiratory infections, recurrent, and failure to thrive with or without diarrhea [RCV003152495] |
Chr7:16799743 [GRCh38] Chr7:16839367 [GRCh37] Chr7:7p21.1 |
pathogenic |
NM_006408.4(AGR2):c.428G>A (p.Gly143Glu) |
single nucleotide variant |
Respiratory infections, recurrent, and failure to thrive with or without diarrhea [RCV003152496] |
Chr7:16794986 [GRCh38] Chr7:16834610 [GRCh37] Chr7:7p21.1 |
pathogenic |
NM_006408.4(AGR2):c.243C>G (p.Cys81Trp) |
single nucleotide variant |
not specified [RCV004269728] |
Chr7:16801164 [GRCh38] Chr7:16840788 [GRCh37] Chr7:7p21.1 |
uncertain significance |
NM_006408.4(AGR2):c.62G>T (p.Arg21Ile) |
single nucleotide variant |
not specified [RCV004279820] |
Chr7:16801735 [GRCh38] Chr7:16841359 [GRCh37] Chr7:7p21.1 |
uncertain significance |
NM_006408.4(AGR2):c.403C>G (p.Leu135Val) |
single nucleotide variant |
not specified [RCV004359270] |
Chr7:16795011 [GRCh38] Chr7:16834635 [GRCh37] Chr7:7p21.1 |
uncertain significance |
NM_006408.4(AGR2):c.34C>T (p.Leu12Phe) |
single nucleotide variant |
not specified [RCV004359328] |
Chr7:16801763 [GRCh38] Chr7:16841387 [GRCh37] Chr7:7p21.1 |
uncertain significance |
NM_006408.4(AGR2):c.397C>A (p.Pro133Thr) |
single nucleotide variant |
not specified [RCV004344074] |
Chr7:16795017 [GRCh38] Chr7:16834641 [GRCh37] Chr7:7p21.1 |
uncertain significance |
NM_006408.4(AGR2):c.94G>C (p.Asp32His) |
single nucleotide variant |
not specified [RCV004365712] |
Chr7:16801703 [GRCh38] Chr7:16841327 [GRCh37] Chr7:7p21.1 |
uncertain significance |
NM_006408.4(AGR2):c.256+2T>C |
single nucleotide variant |
AGR2-related condition [RCV003929197]|Respiratory infections, recurrent, and failure to thrive with or without diarrhea [RCV003447678] |
Chr7:16801149 [GRCh38] Chr7:16840773 [GRCh37] Chr7:7p21.1 |
likely pathogenic|uncertain significance |
GRCh37/hg19 7p21.3-15.2(chr7:13107394-27514163)x1 |
copy number loss |
not specified [RCV003986690] |
Chr7:13107394..27514163 [GRCh37] Chr7:7p21.3-15.2 |
pathogenic |
NM_006408.4(AGR2):c.332A>G (p.Tyr111Cys) |
single nucleotide variant |
Respiratory infections, recurrent, and failure to thrive with or without diarrhea [RCV003990352] |
Chr7:16797693 [GRCh38] Chr7:16837317 [GRCh37] Chr7:7p21.1 |
uncertain significance |
NM_006408.4(AGR2):c.331-1G>A |
single nucleotide variant |
AGR2-related condition [RCV003931960] |
Chr7:16797695 [GRCh38] Chr7:16837319 [GRCh37] Chr7:7p21.1 |
uncertain significance |
NM_006408.4(AGR2):c.110G>A (p.Arg37Gln) |
single nucleotide variant |
not specified [RCV004394458] |
Chr7:16801687 [GRCh38] Chr7:16841311 [GRCh37] Chr7:7p21.1 |
likely benign |
NM_006408.4(AGR2):c.358C>A (p.Pro120Thr) |
single nucleotide variant |
not specified [RCV004394469] |
Chr7:16797667 [GRCh38] Chr7:16837291 [GRCh37] Chr7:7p21.1 |
uncertain significance |