| PPOX, 1-BP INS, 1022G |
insertion |
Variegate porphyria [RCV000009229] |
Chr1:1q22 |
pathogenic |
| NM_001122764.3(PPOX):c.538_539del (p.Ile180fs) |
deletion |
Variegate porphyria [RCV000009236] |
Chr1:161168498..161168499 [GRCh38]
Chr1:161138288..161138289 [GRCh37]
Chr1:1q23.3 |
pathogenic |
| NM_001122764.3(PPOX):c.1241_1245del (p.Leu414fs) |
deletion |
Variegate porphyria [RCV000009237] |
Chr1:161170761..161170765 [GRCh38]
Chr1:161140551..161140555 [GRCh37]
Chr1:1q23.3 |
pathogenic |
| NM_001122764.3(PPOX):c.657_658insAAGGCCAGCGCC (p.Ala219_Leu220insLysAlaSerAla) |
insertion |
Variegate porphyria, childhood-onset [RCV003324491] |
Chr1:161169030..161169031 [GRCh38]
Chr1:161138820..161138821 [GRCh37]
Chr1:1q23.3 |
pathogenic |
| PPOX, IVS11DS, G-A, -1 |
single nucleotide variant |
Variegate porphyria [RCV003324492]|Variegate porphyria, childhood-onset [RCV003324493] |
Chr1:1q22 |
pathogenic |
| NM_001122764.3(PPOX):c.694G>C (p.Gly232Arg) |
single nucleotide variant |
Variegate porphyria [RCV000009230]|not provided [RCV000816933] |
Chr1:161169070 [GRCh38]
Chr1:161138860 [GRCh37]
Chr1:1q23.3 |
pathogenic |
| NM_001122764.3(PPOX):c.502C>T (p.Arg168Cys) |
single nucleotide variant |
Variegate porphyria [RCV000009231]|Variegate porphyria, childhood-onset [RCV003324488] |
Chr1:161168462 [GRCh38]
Chr1:161138252 [GRCh37]
Chr1:1q23.3 |
pathogenic|likely pathogenic |
| NM_001122764.3(PPOX):c.59A>C (p.His20Pro) |
single nucleotide variant |
Variegate porphyria [RCV000009232] |
Chr1:161166906 [GRCh38]
Chr1:161136696 [GRCh37]
Chr1:1q23.3 |
pathogenic |
| NM_001122764.3(PPOX):c.175C>T (p.Arg59Trp) |
single nucleotide variant |
Variegate porphyria [RCV000009233]|Variegate porphyria, childhood-onset [RCV003324489]|not provided [RCV001232723] |
Chr1:161167187 [GRCh38]
Chr1:161136977 [GRCh37]
Chr1:1q23.3 |
pathogenic |
| NM_001122764.3(PPOX):c.503G>A (p.Arg168His) |
single nucleotide variant |
See cases [RCV002251893]|Variegate porphyria [RCV000009234]|not provided [RCV000492944] |
Chr1:161168463 [GRCh38]
Chr1:161138253 [GRCh37]
Chr1:1q23.3 |
pathogenic|likely pathogenic |
| NM_001122764.3(PPOX):c.1046A>C (p.Asp349Ala) |
single nucleotide variant |
Variegate porphyria, childhood-onset [RCV003324490] |
Chr1:161170467 [GRCh38]
Chr1:161140257 [GRCh37]
Chr1:1q23.3 |
pathogenic |
| NM_001122764.3(PPOX):c.35T>C (p.Ile12Thr) |
single nucleotide variant |
Variegate porphyria [RCV003324494]|Variegate porphyria, childhood-onset [RCV003324495] |
Chr1:161166882 [GRCh38]
Chr1:161136672 [GRCh37]
Chr1:1q23.3 |
pathogenic |
| NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg) |
single nucleotide variant |
PPOX-related disorder [RCV003924820]|Variegate porphyria [RCV000986448]|Variegate porphyria, childhood-onset [RCV003324496]|not provided [RCV000961007] |
Chr1:161169143 [GRCh38]
Chr1:161138933 [GRCh37]
Chr1:1q23.3 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh38/hg38 1q23.3(chr1:160866658-161315114)x3 |
copy number gain |
See cases [RCV000051555] |
Chr1:160866658..161315114 [GRCh38]
Chr1:160836448..161284904 [GRCh37]
Chr1:159103072..159551528 [NCBI36]
Chr1:1q23.3 |
uncertain significance |
| GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1 |
copy number loss |
See cases [RCV000051172] |
Chr1:159479887..166895086 [GRCh38]
Chr1:159449677..166864323 [GRCh37]
Chr1:157716301..165130947 [NCBI36]
Chr1:1q23.2-24.1 |
pathogenic |
| GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3 |
copy number gain |
See cases [RCV000051854] |
Chr1:157747246..176021247 [GRCh38]
Chr1:157717036..175990383 [GRCh37]
Chr1:155983660..174257006 [NCBI36]
Chr1:1q23.1-25.1 |
pathogenic |
| GRCh38/hg38 1q23.3-24.2(chr1:160789732-168617494)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053913]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053913]|See cases [RCV000053913] |
Chr1:160789732..168617494 [GRCh38]
Chr1:160759522..168586732 [GRCh37]
Chr1:159026146..166853356 [NCBI36]
Chr1:1q23.3-24.2 |
pathogenic |
| NM_001122764.1(PPOX):c.1322G>A (p.Arg441Lys) |
single nucleotide variant |
Malignant melanoma [RCV000064270] |
Chr1:161171064 [GRCh38]
Chr1:161140854 [GRCh37]
Chr1:159407478 [NCBI36]
Chr1:1q23.3 |
not provided |
| GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 |
copy number gain |
See cases [RCV000143515] |
Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2 |
pathogenic |
| NM_001122764.3(PPOX):c.199del (p.Ala66_Leu67insTer) |
deletion |
Variegate porphyria [RCV000169672]|not provided [RCV002515204] |
Chr1:161167209 [GRCh38]
Chr1:161136999 [GRCh37]
Chr1:1q23.3 |
pathogenic|likely pathogenic |
| NM_001122764.3(PPOX):c.-1C>T |
single nucleotide variant |
Variegate porphyria [RCV000259372] |
Chr1:161166847 [GRCh38]
Chr1:161136637 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.1062T>C (p.Pro354=) |
single nucleotide variant |
Variegate porphyria [RCV000386827]|not provided [RCV003765707] |
Chr1:161170483 [GRCh38]
Chr1:161140273 [GRCh37]
Chr1:1q23.3 |
likely benign|uncertain significance |
| NM_001122764.3(PPOX):c.1303C>T (p.Gln435Ter) |
single nucleotide variant |
Variegate porphyria [RCV000397500]|not provided [RCV001063622] |
Chr1:161171045 [GRCh38]
Chr1:161140835 [GRCh37]
Chr1:1q23.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001122764.3(PPOX):c.911G>A (p.Arg304His) |
single nucleotide variant |
Variegate porphyria [RCV000295963]|not provided [RCV001511215]|not specified [RCV001699425] |
Chr1:161169948 [GRCh38]
Chr1:161139738 [GRCh37]
Chr1:1q23.3 |
benign|likely benign |
| NM_001122764.3(PPOX):c.646A>G (p.Ile216Val) |
single nucleotide variant |
Variegate porphyria [RCV000381079] |
Chr1:161169022 [GRCh38]
Chr1:161138812 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.471+3G>A |
single nucleotide variant |
Variegate porphyria [RCV000384355]|not provided [RCV001859751] |
Chr1:161168130 [GRCh38]
Chr1:161137920 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.360C>T (p.Pro120=) |
single nucleotide variant |
Variegate porphyria [RCV000320517]|not provided [RCV000891857] |
Chr1:161168016 [GRCh38]
Chr1:161137806 [GRCh37]
Chr1:1q23.3 |
benign|uncertain significance |
| NM_001122764.3(PPOX):c.87+13C>T |
single nucleotide variant |
Variegate porphyria [RCV000360040]|not provided [RCV002059341] |
Chr1:161166947 [GRCh38]
Chr1:161136737 [GRCh37]
Chr1:1q23.3 |
benign|uncertain significance |
| NM_001122764.3(PPOX):c.617-6C>T |
single nucleotide variant |
Variegate porphyria [RCV000326243]|not provided [RCV000899662] |
Chr1:161168987 [GRCh38]
Chr1:161138777 [GRCh37]
Chr1:1q23.3 |
benign|uncertain significance |
| NM_001122764.3(PPOX):c.936G>A (p.Val312=) |
single nucleotide variant |
Variegate porphyria [RCV000332321]|not provided [RCV003727643] |
Chr1:161169973 [GRCh38]
Chr1:161139763 [GRCh37]
Chr1:1q23.3 |
benign|uncertain significance |
| NM_001122764.3(PPOX):c.1248+4A>G |
single nucleotide variant |
Variegate porphyria [RCV000338262]|not provided [RCV003727644] |
Chr1:161170773 [GRCh38]
Chr1:161140563 [GRCh37]
Chr1:1q23.3 |
likely benign|uncertain significance |
| NM_001122764.3(PPOX):c.-128C>G |
single nucleotide variant |
Variegate porphyria [RCV000301347]|not provided [RCV001636850] |
Chr1:161166553 [GRCh38]
Chr1:161136343 [GRCh37]
Chr1:1q23.3 |
benign|likely benign |
| NM_001122764.3(PPOX):c.-2G>T |
single nucleotide variant |
Variegate porphyria [RCV000356151] |
Chr1:161166846 [GRCh38]
Chr1:161136636 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.-247C>A |
single nucleotide variant |
Variegate porphyria [RCV000289768]|not provided [RCV001668639] |
Chr1:161166434 [GRCh38]
Chr1:161136224 [GRCh37]
Chr1:1q23.3 |
benign|likely benign |
| NM_001122764.3(PPOX):c.-251G>C |
single nucleotide variant |
Variegate porphyria [RCV000384128] |
Chr1:161166430 [GRCh38]
Chr1:161136220 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.-246G>T |
single nucleotide variant |
Variegate porphyria [RCV000344696]|not provided [RCV000936874] |
Chr1:161166435 [GRCh38]
Chr1:161136225 [GRCh37]
Chr1:1q23.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001122764.3(PPOX):c.-149G>T |
single nucleotide variant |
Variegate porphyria [RCV000390367] |
Chr1:161166532 [GRCh38]
Chr1:161136322 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.-151G>T |
single nucleotide variant |
Variegate porphyria [RCV000350391] |
Chr1:161166530 [GRCh38]
Chr1:161136320 [GRCh37]
Chr1:1q23.3 |
likely benign|uncertain significance |
| NM_001122764.3(PPOX):c.522C>T (p.Asn174=) |
single nucleotide variant |
Variegate porphyria [RCV000271176] |
Chr1:161168482 [GRCh38]
Chr1:161138272 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.338+9A>G |
single nucleotide variant |
Variegate porphyria [RCV000265142] |
Chr1:161167495 [GRCh38]
Chr1:161137285 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.-174A>G |
single nucleotide variant |
Variegate porphyria [RCV000314324] |
Chr1:161166507 [GRCh38]
Chr1:161136297 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.1087C>G (p.Leu363Val) |
single nucleotide variant |
Variegate porphyria [RCV000292607] |
Chr1:161170508 [GRCh38]
Chr1:161140298 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.69G>T (p.Arg23=) |
single nucleotide variant |
Variegate porphyria [RCV000305272] |
Chr1:161166916 [GRCh38]
Chr1:161136706 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_003779.4(B4GALT3):c.758A>G (p.Asn253Ser) |
single nucleotide variant |
not specified [RCV004317937] |
Chr1:161173650 [GRCh38]
Chr1:161143440 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.-180T>C |
single nucleotide variant |
Variegate porphyria [RCV000394707] |
Chr1:161166501 [GRCh38]
Chr1:161136291 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.1281G>A (p.Trp427Ter) |
single nucleotide variant |
Abnormal blistering of the skin [RCV000415419]|not provided [RCV003486825] |
Chr1:161170939 [GRCh38]
Chr1:161140729 [GRCh37]
Chr1:1q23.3 |
pathogenic|likely pathogenic |
| GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325) |
copy number loss |
not provided [RCV000767779] |
Chr1:160369890..175796325 [GRCh37]
Chr1:1q23.2-25.1 |
pathogenic |
| NM_001122764.3(PPOX):c.367T>A (p.Ser123Thr) |
single nucleotide variant |
not provided [RCV000481278] |
Chr1:161168023 [GRCh38]
Chr1:161137813 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.590T>C (p.Ile197Thr) |
single nucleotide variant |
Acute intermittent porphyria [RCV001844183] |
Chr1:161168550 [GRCh38]
Chr1:161138340 [GRCh37]
Chr1:1q23.3 |
not provided |
| NM_001122764.3(PPOX):c.968_970del (p.Gly323del) |
deletion |
not provided [RCV000497674] |
Chr1:161170003..161170005 [GRCh38]
Chr1:161139793..161139795 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 |
copy number gain |
See cases [RCV000510383] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) |
copy number gain |
See cases [RCV000510926] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_001122764.3(PPOX):c.1161G>C (p.Glu387Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003252231] |
Chr1:161170682 [GRCh38]
Chr1:161140472 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.1353T>G (p.Tyr451Ter) |
single nucleotide variant |
Migraine [RCV000626658] |
Chr1:161171095 [GRCh38]
Chr1:161140885 [GRCh37]
Chr1:1q23.3 |
pathogenic |
| NM_001122764.3(PPOX):c.1423C>G (p.Pro475Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003258023] |
Chr1:161171165 [GRCh38]
Chr1:161140955 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_003779.4(B4GALT3):c.1091C>T (p.Ala364Val) |
single nucleotide variant |
not specified [RCV004282427] |
Chr1:161171907 [GRCh38]
Chr1:161141697 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 |
copy number gain |
not provided [RCV000736295] |
Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 |
copy number gain |
not provided [RCV000736305] |
Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1q23.2-25.2(chr1:159815642-177026983)x1 |
copy number loss |
not provided [RCV000736717] |
Chr1:159815642..177026983 [GRCh37]
Chr1:1q23.2-25.2 |
pathogenic |
| NM_001122764.3(PPOX):c.869-3_869-2del |
deletion |
Variegate porphyria [RCV000761331] |
Chr1:161169903..161169904 [GRCh38]
Chr1:161139693..161139694 [GRCh37]
Chr1:1q23.3 |
likely pathogenic |
| NM_001122764.3(PPOX):c.29G>A (p.Gly10Glu) |
single nucleotide variant |
not provided [RCV001060924] |
Chr1:161166876 [GRCh38]
Chr1:161136666 [GRCh37]
Chr1:1q23.3 |
likely pathogenic|uncertain significance |
| NM_001122764.3(PPOX):c.1317T>G (p.Ala439=) |
single nucleotide variant |
not provided [RCV000927572] |
Chr1:161171059 [GRCh38]
Chr1:161140849 [GRCh37]
Chr1:1q23.3 |
likely benign |
| NM_001122764.3(PPOX):c.1248+5G>C |
single nucleotide variant |
not provided [RCV000946515] |
Chr1:161170774 [GRCh38]
Chr1:161140564 [GRCh37]
Chr1:1q23.3 |
likely benign |
| NM_001122764.3(PPOX):c.338+1G>A |
single nucleotide variant |
not provided [RCV001035226] |
Chr1:161167487 [GRCh38]
Chr1:161137277 [GRCh37]
Chr1:1q23.3 |
pathogenic |
| NM_001122764.3(PPOX):c.1206A>C (p.Gly402=) |
single nucleotide variant |
Variegate porphyria [RCV002505464]|not provided [RCV000967920] |
Chr1:161170727 [GRCh38]
Chr1:161140517 [GRCh37]
Chr1:1q23.3 |
benign|likely benign |
| NM_001122764.3(PPOX):c.565C>T (p.Gln189Ter) |
single nucleotide variant |
not provided [RCV000806934] |
Chr1:161168525 [GRCh38]
Chr1:161138315 [GRCh37]
Chr1:1q23.3 |
pathogenic |
| NC_000001.10:g.(?_160786670)_(161332233_?)dup |
duplication |
Gastrointestinal stromal tumor [RCV000792787] |
Chr1:160816880..161362443 [GRCh38]
Chr1:160786670..161332233 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.31G>T (p.Gly11Cys) |
single nucleotide variant |
not provided [RCV000818438] |
Chr1:161166878 [GRCh38]
Chr1:161136668 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.660G>T (p.Leu220Phe) |
single nucleotide variant |
not provided [RCV000803811] |
Chr1:161169036 [GRCh38]
Chr1:161138826 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.1092_1093del (p.Arg364fs) |
microsatellite |
not provided [RCV000796842] |
Chr1:161170511..161170512 [GRCh38]
Chr1:161140301..161140302 [GRCh37]
Chr1:1q23.3 |
pathogenic |
| NM_001122764.3(PPOX):c.2T>C (p.Met1Thr) |
single nucleotide variant |
not provided [RCV000812153] |
Chr1:161166849 [GRCh38]
Chr1:161136639 [GRCh37]
Chr1:1q23.3 |
pathogenic |
| NM_001122764.3(PPOX):c.454C>T (p.Arg152Cys) |
single nucleotide variant |
not provided [RCV000822336] |
Chr1:161168110 [GRCh38]
Chr1:161137900 [GRCh37]
Chr1:1q23.3 |
pathogenic |
| NM_001122764.3(PPOX):c.349C>T (p.Arg117Cys) |
single nucleotide variant |
Variegate porphyria [RCV001097057] |
Chr1:161168005 [GRCh38]
Chr1:161137795 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.1291+1G>C |
single nucleotide variant |
not provided [RCV000799243] |
Chr1:161170950 [GRCh38]
Chr1:161140740 [GRCh37]
Chr1:1q23.3 |
pathogenic|uncertain significance |
| NM_001122764.3(PPOX):c.745dup (p.Val249fs) |
duplication |
Variegate porphyria [RCV002271591]|not provided [RCV000822922] |
Chr1:161169115..161169116 [GRCh38]
Chr1:161138905..161138906 [GRCh37]
Chr1:1q23.3 |
pathogenic |
| NM_001122764.3(PPOX):c.78C>A (p.Cys26Ter) |
single nucleotide variant |
not provided [RCV000804709] |
Chr1:161166925 [GRCh38]
Chr1:161136715 [GRCh37]
Chr1:1q23.3 |
pathogenic |
| NM_001122764.3(PPOX):c.1072G>A (p.Gly358Arg) |
single nucleotide variant |
Variegate porphyria [RCV001169976]|Variegate porphyria, childhood-onset [RCV003328475]|not provided [RCV001339128] |
Chr1:161170493 [GRCh38]
Chr1:161140283 [GRCh37]
Chr1:1q23.3 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 1q23.3(chr1:160744174-162583871)x3 |
copy number gain |
not provided [RCV000849025] |
Chr1:160744174..162583871 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| GRCh37/hg19 1q23.3(chr1:161134612-161422225)x3 |
copy number gain |
not provided [RCV000848107] |
Chr1:161134612..161422225 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1 |
copy number loss |
not provided [RCV000848773] |
Chr1:157321299..167391423 [GRCh37]
Chr1:1q23.1-24.2 |
pathogenic |
| GRCh37/hg19 1q23.3(chr1:161134675-161652307)x3 |
copy number gain |
not provided [RCV001005146] |
Chr1:161134675..161652307 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.83C>T (p.Pro28Leu) |
single nucleotide variant |
not provided [RCV001234672] |
Chr1:161166930 [GRCh38]
Chr1:161136720 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.1091_1092delinsAG (p.Arg364Lys) |
indel |
not provided [RCV001238186] |
Chr1:161170512..161170513 [GRCh38]
Chr1:161140302..161140303 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.67C>T (p.Arg23Trp) |
single nucleotide variant |
not provided [RCV003159532] |
Chr1:161166914 [GRCh38]
Chr1:161136704 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.559C>T (p.Leu187Phe) |
single nucleotide variant |
Variegate porphyria [RCV001097058] |
Chr1:161168519 [GRCh38]
Chr1:161138309 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.1248+19C>T |
single nucleotide variant |
not provided [RCV003107152] |
Chr1:161170788 [GRCh38]
Chr1:161140578 [GRCh37]
Chr1:1q23.3 |
likely benign |
| NM_001122764.3(PPOX):c.87+10C>T |
single nucleotide variant |
not provided [RCV000925072] |
Chr1:161166944 [GRCh38]
Chr1:161136734 [GRCh37]
Chr1:1q23.3 |
likely benign |
| NM_001122764.3(PPOX):c.100G>A (p.Glu34Lys) |
single nucleotide variant |
not provided [RCV001214091] |
Chr1:161167112 [GRCh38]
Chr1:161136902 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.31G>A (p.Gly11Ser) |
single nucleotide variant |
not provided [RCV001205622] |
Chr1:161166878 [GRCh38]
Chr1:161136668 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.545C>A (p.Ser182Tyr) |
single nucleotide variant |
not provided [RCV001206497] |
Chr1:161168505 [GRCh38]
Chr1:161138295 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.72C>A (p.Ala24=) |
single nucleotide variant |
not provided [RCV000912804] |
Chr1:161166919 [GRCh38]
Chr1:161136709 [GRCh37]
Chr1:1q23.3 |
likely benign |
| NM_001122764.3(PPOX):c.491A>G (p.Asp164Gly) |
single nucleotide variant |
Variegate porphyria [RCV002471400] |
Chr1:161168451 [GRCh38]
Chr1:161138241 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_003779.4(B4GALT3):c.644G>A (p.Arg215His) |
single nucleotide variant |
not specified [RCV004306410] |
Chr1:161173895 [GRCh38]
Chr1:161143685 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| GRCh37/hg19 1q23.3(chr1:160977795-161189147)x3 |
copy number gain |
not provided [RCV001005145] |
Chr1:160977795..161189147 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.987+137C>T |
single nucleotide variant |
not provided [RCV001620490] |
Chr1:161170161 [GRCh38]
Chr1:161139951 [GRCh37]
Chr1:1q23.3 |
benign |
| NM_001122764.3(PPOX):c.597G>T (p.Leu199=) |
single nucleotide variant |
Variegate porphyria [RCV001098796] |
Chr1:161168557 [GRCh38]
Chr1:161138347 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.649C>T (p.Arg217Cys) |
single nucleotide variant |
Variegate porphyria [RCV001098797] |
Chr1:161169025 [GRCh38]
Chr1:161138815 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.844G>A (p.Val282Ile) |
single nucleotide variant |
Variegate porphyria [RCV001098798]|not provided [RCV001856338] |
Chr1:161169696 [GRCh38]
Chr1:161139486 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NC_000001.11:g.(?_160816880)_(161362518_?)dup |
duplication |
Gastrointestinal stromal tumor [RCV001031279] |
Chr1:160786670..161332308 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.1220C>T (p.Pro407Leu) |
single nucleotide variant |
Variegate porphyria [RCV001100624]|not provided [RCV001873491] |
Chr1:161170741 [GRCh38]
Chr1:161140531 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.338+98del |
deletion |
not provided [RCV001666045] |
Chr1:161167558 [GRCh38]
Chr1:161137348 [GRCh37]
Chr1:1q23.3 |
benign |
| NM_001122764.3(PPOX):c.338+182G>A |
single nucleotide variant |
not provided [RCV001690535] |
Chr1:161167668 [GRCh38]
Chr1:161137458 [GRCh37]
Chr1:1q23.3 |
benign |
| NM_001122764.3(PPOX):c.-211C>A |
single nucleotide variant |
Variegate porphyria [RCV001102459] |
Chr1:161166470 [GRCh38]
Chr1:161136260 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.1318C>T (p.His440Tyr) |
single nucleotide variant |
Variegate porphyria [RCV001100625] |
Chr1:161171060 [GRCh38]
Chr1:161140850 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.1358G>A (p.Gly453Glu) |
single nucleotide variant |
not provided [RCV001040852] |
Chr1:161171100 [GRCh38]
Chr1:161140890 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.1291+1G>T |
single nucleotide variant |
Variegate porphyria [RCV001253784] |
Chr1:161170950 [GRCh38]
Chr1:161140740 [GRCh37]
Chr1:1q23.3 |
likely pathogenic |
| NM_001122764.3(PPOX):c.538A>G (p.Ile180Val) |
single nucleotide variant |
not provided [RCV001349157] |
Chr1:161168498 [GRCh38]
Chr1:161138288 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.742G>C (p.Gly248Arg) |
single nucleotide variant |
not provided [RCV001302216] |
Chr1:161169118 [GRCh38]
Chr1:161138908 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NC_000001.10:g.(?_130980840)_(248900000_?)dup |
duplication |
Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] |
Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44 |
uncertain significance |
| NM_001122764.3(PPOX):c.70G>A (p.Ala24Thr) |
single nucleotide variant |
not provided [RCV001361826] |
Chr1:161166917 [GRCh38]
Chr1:161136707 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.1280G>A (p.Trp427Ter) |
single nucleotide variant |
not provided [RCV001382596] |
Chr1:161170938 [GRCh38]
Chr1:161140728 [GRCh37]
Chr1:1q23.3 |
pathogenic |
| NM_001122764.3(PPOX):c.71C>T (p.Ala24Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004037776]|not provided [RCV001397121] |
Chr1:161166918 [GRCh38]
Chr1:161136708 [GRCh37]
Chr1:1q23.3 |
likely benign|uncertain significance |
| NM_001122764.3(PPOX):c.488T>C (p.Met163Thr) |
single nucleotide variant |
not provided [RCV001360152] |
Chr1:161168448 [GRCh38]
Chr1:161138238 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.661G>A (p.Ala221Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002550083]|not provided [RCV001369339] |
Chr1:161169037 [GRCh38]
Chr1:161138827 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.842A>G (p.His281Arg) |
single nucleotide variant |
not provided [RCV001342587] |
Chr1:161169694 [GRCh38]
Chr1:161139484 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.650G>A (p.Arg217His) |
single nucleotide variant |
not provided [RCV001372645] |
Chr1:161169026 [GRCh38]
Chr1:161138816 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.361C>A (p.Pro121Thr) |
single nucleotide variant |
not provided [RCV001299378] |
Chr1:161168017 [GRCh38]
Chr1:161137807 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.494G>A (p.Ser165Asn) |
single nucleotide variant |
not provided [RCV001298409] |
Chr1:161168454 [GRCh38]
Chr1:161138244 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.987+5G>T |
single nucleotide variant |
not provided [RCV001365957] |
Chr1:161170029 [GRCh38]
Chr1:161139819 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.477G>A (p.Ala159=) |
single nucleotide variant |
not provided [RCV001505701] |
Chr1:161168437 [GRCh38]
Chr1:161138227 [GRCh37]
Chr1:1q23.3 |
likely benign |
| NM_001122764.3(PPOX):c.133del (p.Ser45fs) |
deletion |
not provided [RCV001385319] |
Chr1:161167145 [GRCh38]
Chr1:161136935 [GRCh37]
Chr1:1q23.3 |
pathogenic |
| NM_001122764.3(PPOX):c.807+2T>C |
single nucleotide variant |
not provided [RCV001377308] |
Chr1:161169185 [GRCh38]
Chr1:161138975 [GRCh37]
Chr1:1q23.3 |
likely pathogenic |
| NC_000001.11:g.161165769A>G |
single nucleotide variant |
not provided [RCV001518449] |
Chr1:161165769 [GRCh38]
Chr1:161135559 [GRCh37]
Chr1:1q23.3 |
benign |
| NM_001122764.3(PPOX):c.338+2dup |
duplication |
not provided [RCV001379217] |
Chr1:161167487..161167488 [GRCh38]
Chr1:161137277..161137278 [GRCh37]
Chr1:1q23.3 |
likely pathogenic |
| NM_001122764.3(PPOX):c.741G>T (p.Arg247Ser) |
single nucleotide variant |
not provided [RCV001430995] |
Chr1:161169117 [GRCh38]
Chr1:161138907 [GRCh37]
Chr1:1q23.3 |
likely benign |
| NM_001122764.3(PPOX):c.1147_1148del (p.Val383fs) |
microsatellite |
not provided [RCV001387745] |
Chr1:161170665..161170666 [GRCh38]
Chr1:161140455..161140456 [GRCh37]
Chr1:1q23.3 |
pathogenic |
| NM_001122764.3(PPOX):c.88-47C>G |
single nucleotide variant |
not provided [RCV001673454] |
Chr1:161167053 [GRCh38]
Chr1:161136843 [GRCh37]
Chr1:1q23.3 |
benign |
| NM_001122764.3(PPOX):c.139C>T (p.Arg47Ter) |
single nucleotide variant |
not provided [RCV001385320] |
Chr1:161167151 [GRCh38]
Chr1:161136941 [GRCh37]
Chr1:1q23.3 |
pathogenic |
| NM_001122764.3(PPOX):c.1042dup (p.Tyr348fs) |
duplication |
not provided [RCV001385321] |
Chr1:161170462..161170463 [GRCh38]
Chr1:161140252..161140253 [GRCh37]
Chr1:1q23.3 |
pathogenic |
| NM_001122764.3(PPOX):c.702G>A (p.Glu234=) |
single nucleotide variant |
not provided [RCV001418177] |
Chr1:161169078 [GRCh38]
Chr1:161138868 [GRCh37]
Chr1:1q23.3 |
likely benign |
| NM_001122764.3(PPOX):c.843C>T (p.His281=) |
single nucleotide variant |
PPOX-related disorder [RCV003953767]|not provided [RCV001416694] |
Chr1:161169695 [GRCh38]
Chr1:161139485 [GRCh37]
Chr1:1q23.3 |
likely benign |
| NM_001122764.3(PPOX):c.1006C>G (p.Pro336Ala) |
single nucleotide variant |
not provided [RCV001768945] |
Chr1:161170427 [GRCh38]
Chr1:161140217 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.263G>T (p.Arg88Leu) |
single nucleotide variant |
not provided [RCV001765263] |
Chr1:161167411 [GRCh38]
Chr1:161137201 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.1018_1020del (p.Asp340del) |
deletion |
not provided [RCV001764854] |
Chr1:161170439..161170441 [GRCh38]
Chr1:161140229..161140231 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.848T>C (p.Ile283Thr) |
single nucleotide variant |
Abnormality of metabolism/homeostasis [RCV001814441] |
Chr1:161169700 [GRCh38]
Chr1:161139490 [GRCh37]
Chr1:1q23.3 |
likely pathogenic |
| NM_001122764.3(PPOX):c.987G>C (p.Gln329His) |
single nucleotide variant |
not provided [RCV001970569] |
Chr1:161170024 [GRCh38]
Chr1:161139814 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.744G>A (p.Gly248=) |
single nucleotide variant |
not provided [RCV001948272] |
Chr1:161169120 [GRCh38]
Chr1:161138910 [GRCh37]
Chr1:1q23.3 |
likely benign |
| GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042) |
copy number loss |
not specified [RCV002053658] |
Chr1:160417296..166197042 [GRCh37]
Chr1:1q23.2-24.1 |
pathogenic |
| NM_001350128.2(PPOX):c.354-415del |
deletion |
not provided [RCV002002379] |
Chr1:161167994 [GRCh38]
Chr1:161137784 [GRCh37]
Chr1:1q23.3 |
pathogenic |
| NM_001122764.3(PPOX):c.617-3C>A |
single nucleotide variant |
not provided [RCV001966863] |
Chr1:161168990 [GRCh38]
Chr1:161138780 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.254T>C (p.Leu85Pro) |
single nucleotide variant |
not provided [RCV002005002] |
Chr1:161167402 [GRCh38]
Chr1:161137192 [GRCh37]
Chr1:1q23.3 |
likely pathogenic |
| NM_001122764.3(PPOX):c.851G>T (p.Ser284Ile) |
single nucleotide variant |
not provided [RCV001908880] |
Chr1:161169703 [GRCh38]
Chr1:161139493 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.397G>T (p.Glu133Ter) |
single nucleotide variant |
not provided [RCV001949335] |
Chr1:161168053 [GRCh38]
Chr1:161137843 [GRCh37]
Chr1:1q23.3 |
pathogenic |
| GRCh37/hg19 1q23.3(chr1:160859558-161409185)x3 |
copy number gain |
not provided [RCV001829131] |
Chr1:160859558..161409185 [GRCh37]
Chr1:1q23.3 |
likely pathogenic |
| NM_001122764.3(PPOX):c.384_397dup (p.Glu133delinsGlyLeuGlyTer) |
duplication |
not provided [RCV001939468] |
Chr1:161168038..161168039 [GRCh38]
Chr1:161137828..161137829 [GRCh37]
Chr1:1q23.3 |
pathogenic |
| NM_001122764.3(PPOX):c.808-1G>A |
single nucleotide variant |
not provided [RCV002035367] |
Chr1:161169659 [GRCh38]
Chr1:161139449 [GRCh37]
Chr1:1q23.3 |
pathogenic |
| NM_001122764.3(PPOX):c.1198C>A (p.Gln400Lys) |
single nucleotide variant |
not provided [RCV001905834] |
Chr1:161170719 [GRCh38]
Chr1:161140509 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.503G>T (p.Arg168Leu) |
single nucleotide variant |
not provided [RCV001953053] |
Chr1:161168463 [GRCh38]
Chr1:161138253 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.997C>T (p.His333Tyr) |
single nucleotide variant |
not provided [RCV002029088] |
Chr1:161170418 [GRCh38]
Chr1:161140208 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.8G>A (p.Arg3Gln) |
single nucleotide variant |
not provided [RCV001957496] |
Chr1:161166855 [GRCh38]
Chr1:161136645 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.1263G>C (p.Gln421His) |
single nucleotide variant |
not provided [RCV002029542] |
Chr1:161170921 [GRCh38]
Chr1:161140711 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NC_000001.10:g.(?_158581054)_(162750036_?)dup |
duplication |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001918952]|not provided [RCV001918953] |
Chr1:158581054..162750036 [GRCh37]
Chr1:1q23.1-23.3 |
uncertain significance|no classifications from unflagged records |
| NM_001122764.3(PPOX):c.38G>A (p.Ser13Asn) |
single nucleotide variant |
not provided [RCV002017509] |
Chr1:161166885 [GRCh38]
Chr1:161136675 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.803G>A (p.Trp268Ter) |
single nucleotide variant |
not provided [RCV001953546] |
Chr1:161169179 [GRCh38]
Chr1:161138969 [GRCh37]
Chr1:1q23.3 |
pathogenic |
| NC_000001.10:g.(?_161137765)_(161138386_?)del |
deletion |
not provided [RCV001939601] |
Chr1:161137765..161138386 [GRCh37]
Chr1:1q23.3 |
pathogenic |
| NM_001122764.3(PPOX):c.23T>C (p.Leu8Pro) |
single nucleotide variant |
not provided [RCV002045998] |
Chr1:161166870 [GRCh38]
Chr1:161136660 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.708G>T (p.Leu236Phe) |
single nucleotide variant |
not provided [RCV001975895] |
Chr1:161169084 [GRCh38]
Chr1:161138874 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.471+14A>G |
single nucleotide variant |
not provided [RCV002147801] |
Chr1:161168141 [GRCh38]
Chr1:161137931 [GRCh37]
Chr1:1q23.3 |
likely benign |
| NM_001122764.3(PPOX):c.1248+16C>A |
single nucleotide variant |
not provided [RCV002111760] |
Chr1:161170785 [GRCh38]
Chr1:161140575 [GRCh37]
Chr1:1q23.3 |
benign |
| NM_001122764.3(PPOX):c.1041G>T (p.Val347=) |
single nucleotide variant |
not provided [RCV002211583] |
Chr1:161170462 [GRCh38]
Chr1:161140252 [GRCh37]
Chr1:1q23.3 |
likely benign |
| NM_001122764.3(PPOX):c.1296A>G (p.Ser432=) |
single nucleotide variant |
Variegate porphyria [RCV002243528]|not provided [RCV002194263] |
Chr1:161171038 [GRCh38]
Chr1:161140828 [GRCh37]
Chr1:1q23.3 |
likely benign|uncertain significance |
| NM_001122764.3(PPOX):c.658T>C (p.Leu220=) |
single nucleotide variant |
not provided [RCV002171663] |
Chr1:161169034 [GRCh38]
Chr1:161138824 [GRCh37]
Chr1:1q23.3 |
likely benign |
| NM_001122764.3(PPOX):c.219C>T (p.Leu73=) |
single nucleotide variant |
not provided [RCV002198391] |
Chr1:161167231 [GRCh38]
Chr1:161137021 [GRCh37]
Chr1:1q23.3 |
likely benign |
| NM_001122764.3(PPOX):c.987+16G>A |
single nucleotide variant |
not provided [RCV002136788] |
Chr1:161170040 [GRCh38]
Chr1:161139830 [GRCh37]
Chr1:1q23.3 |
benign |
| NM_001122764.3(PPOX):c.1098+9G>A |
single nucleotide variant |
not provided [RCV002181049] |
Chr1:161170528 [GRCh38]
Chr1:161140318 [GRCh37]
Chr1:1q23.3 |
likely benign |
| NM_001122764.3(PPOX):c.1263G>A (p.Gln421=) |
single nucleotide variant |
not provided [RCV002101741] |
Chr1:161170921 [GRCh38]
Chr1:161140711 [GRCh37]
Chr1:1q23.3 |
likely benign |
| NM_001122764.3(PPOX):c.300C>T (p.Tyr100=) |
single nucleotide variant |
not provided [RCV002141758] |
Chr1:161167448 [GRCh38]
Chr1:161137238 [GRCh37]
Chr1:1q23.3 |
likely benign |
| NM_001122764.3(PPOX):c.761G>A (p.Gly254Asp) |
single nucleotide variant |
not provided [RCV003487055] |
Chr1:161169137 [GRCh38]
Chr1:161138927 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.338G>C (p.Arg113Thr) |
single nucleotide variant |
Variegate porphyria [RCV002281665] |
Chr1:161167486 [GRCh38]
Chr1:161137276 [GRCh37]
Chr1:1q23.3 |
pathogenic |
| NM_001122764.3(PPOX):c.719T>C (p.Leu240Pro) |
single nucleotide variant |
not provided [RCV002297896] |
Chr1:161169095 [GRCh38]
Chr1:161138885 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.1114T>C (p.Ser372Pro) |
single nucleotide variant |
not provided [RCV002861965] |
Chr1:161170635 [GRCh38]
Chr1:161140425 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_003779.4(B4GALT3):c.634C>T (p.Arg212Trp) |
single nucleotide variant |
not specified [RCV004081079] |
Chr1:161173905 [GRCh38]
Chr1:161143695 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.1115C>A (p.Ser372Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002901906] |
Chr1:161170636 [GRCh38]
Chr1:161140426 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.1421A>G (p.Glu474Gly) |
single nucleotide variant |
not provided [RCV002616393] |
Chr1:161171163 [GRCh38]
Chr1:161140953 [GRCh37]
Chr1:1q23.3 |
likely benign |
| NM_003779.4(B4GALT3):c.727G>A (p.Asp243Asn) |
single nucleotide variant |
not specified [RCV004139271] |
Chr1:161173681 [GRCh38]
Chr1:161143471 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_003779.4(B4GALT3):c.1162G>T (p.Ala388Ser) |
single nucleotide variant |
not specified [RCV004184501] |
Chr1:161171836 [GRCh38]
Chr1:161141626 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.528T>G (p.Arg176=) |
single nucleotide variant |
not provided [RCV002839381] |
Chr1:161168488 [GRCh38]
Chr1:161138278 [GRCh37]
Chr1:1q23.3 |
likely benign |
| GRCh37/hg19 1q23.3(chr1:160778879-161190622)x3 |
copy number gain |
not provided [RCV002475740] |
Chr1:160778879..161190622 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.332G>T (p.Gly111Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002778317] |
Chr1:161167480 [GRCh38]
Chr1:161137270 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.1154C>T (p.Ser385Phe) |
single nucleotide variant |
not provided [RCV003017202] |
Chr1:161170675 [GRCh38]
Chr1:161140465 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.1164G>C (p.Leu388=) |
single nucleotide variant |
not provided [RCV003055406] |
Chr1:161170685 [GRCh38]
Chr1:161140475 [GRCh37]
Chr1:1q23.3 |
likely benign |
| NM_001122764.3(PPOX):c.616G>C (p.Gly206Arg) |
single nucleotide variant |
not provided [RCV002871524] |
Chr1:161168576 [GRCh38]
Chr1:161138366 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.1003G>A (p.Val335Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002868229] |
Chr1:161170424 [GRCh38]
Chr1:161140214 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.1175G>A (p.Arg392Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003289575]|not provided [RCV002638915] |
Chr1:161170696 [GRCh38]
Chr1:161140486 [GRCh37]
Chr1:1q23.3 |
likely benign|uncertain significance |
| NM_001122764.3(PPOX):c.1139G>C (p.Ser380Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002759641] |
Chr1:161170660 [GRCh38]
Chr1:161140450 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.471+10G>C |
single nucleotide variant |
not provided [RCV002867761] |
Chr1:161168137 [GRCh38]
Chr1:161137927 [GRCh37]
Chr1:1q23.3 |
likely benign |
| NM_001122764.3(PPOX):c.1317T>C (p.Ala439=) |
single nucleotide variant |
not provided [RCV002571104] |
Chr1:161171059 [GRCh38]
Chr1:161140849 [GRCh37]
Chr1:1q23.3 |
likely benign |
| NM_001122764.3(PPOX):c.208C>T (p.Arg70Trp) |
single nucleotide variant |
not provided [RCV002820467] |
Chr1:161167220 [GRCh38]
Chr1:161137010 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_003779.4(B4GALT3):c.17T>C (p.Leu6Pro) |
single nucleotide variant |
not specified [RCV004227015] |
Chr1:161176044 [GRCh38]
Chr1:161145834 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.583C>T (p.Arg195Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002788923] |
Chr1:161168543 [GRCh38]
Chr1:161138333 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.799C>T (p.Arg267Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002709870]|not provided [RCV003738349] |
Chr1:161169175 [GRCh38]
Chr1:161138965 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.399G>A (p.Glu133=) |
single nucleotide variant |
not provided [RCV002957447] |
Chr1:161168055 [GRCh38]
Chr1:161137845 [GRCh37]
Chr1:1q23.3 |
benign |
| NM_001122764.3(PPOX):c.1082dup (p.Gly362fs) |
duplication |
not provided [RCV002664189] |
Chr1:161170497..161170498 [GRCh38]
Chr1:161140287..161140288 [GRCh37]
Chr1:1q23.3 |
pathogenic|likely pathogenic |
| NM_001122764.3(PPOX):c.276A>T (p.Pro92=) |
single nucleotide variant |
not provided [RCV002625467] |
Chr1:161167424 [GRCh38]
Chr1:161137214 [GRCh37]
Chr1:1q23.3 |
likely benign |
| NM_001122764.3(PPOX):c.689G>A (p.Arg230His) |
single nucleotide variant |
Inborn genetic diseases [RCV002787360] |
Chr1:161169065 [GRCh38]
Chr1:161138855 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.87+8C>A |
single nucleotide variant |
not provided [RCV002872597] |
Chr1:161166942 [GRCh38]
Chr1:161136732 [GRCh37]
Chr1:1q23.3 |
likely benign |
| NM_001122764.3(PPOX):c.527G>A (p.Arg176His) |
single nucleotide variant |
not provided [RCV002766241] |
Chr1:161168487 [GRCh38]
Chr1:161138277 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.306C>T (p.Gly102=) |
single nucleotide variant |
not provided [RCV002577678] |
Chr1:161167454 [GRCh38]
Chr1:161137244 [GRCh37]
Chr1:1q23.3 |
likely benign |
| NM_001122764.3(PPOX):c.988-3C>T |
single nucleotide variant |
not provided [RCV002602943] |
Chr1:161170406 [GRCh38]
Chr1:161140196 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.322C>G (p.Leu108Val) |
single nucleotide variant |
not provided [RCV003061378] |
Chr1:161167470 [GRCh38]
Chr1:161137260 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_003779.4(B4GALT3):c.119G>A (p.Arg40Gln) |
single nucleotide variant |
not specified [RCV004076450] |
Chr1:161175942 [GRCh38]
Chr1:161145732 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.747C>G (p.Val249=) |
single nucleotide variant |
not provided [RCV002962396] |
Chr1:161169123 [GRCh38]
Chr1:161138913 [GRCh37]
Chr1:1q23.3 |
likely benign |
| NM_001122764.3(PPOX):c.916_917del (p.Leu306fs) |
deletion |
not provided [RCV002648214] |
Chr1:161169953..161169954 [GRCh38]
Chr1:161139743..161139744 [GRCh37]
Chr1:1q23.3 |
pathogenic |
| NM_001122764.3(PPOX):c.1287del (p.Lys429fs) |
deletion |
not provided [RCV002648215] |
Chr1:161170941 [GRCh38]
Chr1:161140731 [GRCh37]
Chr1:1q23.3 |
pathogenic|likely pathogenic |
| NM_001122764.3(PPOX):c.278C>T (p.Ala93Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002748212] |
Chr1:161167426 [GRCh38]
Chr1:161137216 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.82C>G (p.Pro28Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002674810]|not provided [RCV003778559] |
Chr1:161166929 [GRCh38]
Chr1:161136719 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_003779.4(B4GALT3):c.202C>T (p.Pro68Ser) |
single nucleotide variant |
not specified [RCV004174636] |
Chr1:161175859 [GRCh38]
Chr1:161145649 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.1259C>G (p.Pro420Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002856046] |
Chr1:161170917 [GRCh38]
Chr1:161140707 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.218T>C (p.Leu73Pro) |
single nucleotide variant |
not provided [RCV002634319] |
Chr1:161167230 [GRCh38]
Chr1:161137020 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.157A>G (p.Ile53Val) |
single nucleotide variant |
not provided [RCV003052228] |
Chr1:161167169 [GRCh38]
Chr1:161136959 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.-9G>A |
single nucleotide variant |
not provided [RCV002634318] |
Chr1:161166672 [GRCh38]
Chr1:161136462 [GRCh37]
Chr1:1q23.3 |
likely pathogenic |
| NM_001122764.3(PPOX):c.455G>A (p.Arg152His) |
single nucleotide variant |
Inborn genetic diseases [RCV002587420]|not provided [RCV002587421] |
Chr1:161168111 [GRCh38]
Chr1:161137901 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.427G>A (p.Asp143Asn) |
single nucleotide variant |
not provided [RCV003219054] |
Chr1:161168083 [GRCh38]
Chr1:161137873 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.79C>G (p.Pro27Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003282239] |
Chr1:161166926 [GRCh38]
Chr1:161136716 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_003779.4(B4GALT3):c.1076C>G (p.Pro359Arg) |
single nucleotide variant |
not specified [RCV004252202] |
Chr1:161171922 [GRCh38]
Chr1:161141712 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.1217T>C (p.Met406Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003215953] |
Chr1:161170738 [GRCh38]
Chr1:161140528 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.420del (p.Glu141fs) |
deletion |
Variegate porphyria [RCV003226010] |
Chr1:161168074 [GRCh38]
Chr1:161137864 [GRCh37]
Chr1:1q23.3 |
pathogenic |
| NM_001122764.3(PPOX):c.808G>T (p.Val270Leu) |
single nucleotide variant |
Variegate porphyria, childhood-onset [RCV003324656] |
Chr1:161169660 [GRCh38]
Chr1:161139450 [GRCh37]
Chr1:1q23.3 |
pathogenic |
| NM_001122764.3(PPOX):c.506G>A (p.Gly169Glu) |
single nucleotide variant |
Variegate porphyria, childhood-onset [RCV003324652] |
Chr1:161168466 [GRCh38]
Chr1:161138256 [GRCh37]
Chr1:1q23.3 |
pathogenic |
| NM_001122764.3(PPOX):c.1043A>G (p.Tyr348Cys) |
single nucleotide variant |
Variegate porphyria, childhood-onset [RCV003324654] |
Chr1:161170464 [GRCh38]
Chr1:161140254 [GRCh37]
Chr1:1q23.3 |
pathogenic |
| NM_001122764.3(PPOX):c.413G>C (p.Arg138Pro) |
single nucleotide variant |
Variegate porphyria, childhood-onset [RCV003324655] |
Chr1:161168069 [GRCh38]
Chr1:161137859 [GRCh37]
Chr1:1q23.3 |
pathogenic |
| G358R |
variation |
Variegate porphyria, childhood-onset [RCV003324653] |
|
pathogenic |
| NM_001122764.3(PPOX):c.571G>T (p.Glu191Ter) |
single nucleotide variant |
See cases [RCV003334422] |
Chr1:161168531 [GRCh38]
Chr1:161138321 [GRCh37]
Chr1:1q23.3 |
likely pathogenic |
| NM_003779.4(B4GALT3):c.400C>T (p.Arg134Trp) |
single nucleotide variant |
not specified [RCV004351530] |
Chr1:161175082 [GRCh38]
Chr1:161144872 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_003779.4(B4GALT3):c.841A>G (p.Thr281Ala) |
single nucleotide variant |
not specified [RCV004348903] |
Chr1:161172294 [GRCh38]
Chr1:161142084 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_003779.4(B4GALT3):c.1019C>T (p.Ala340Val) |
single nucleotide variant |
not specified [RCV004364059] |
Chr1:161171979 [GRCh38]
Chr1:161141769 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_003779.4(B4GALT3):c.416G>A (p.Arg139His) |
single nucleotide variant |
not specified [RCV004352165] |
Chr1:161175066 [GRCh38]
Chr1:161144856 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.1160A>G (p.Glu387Gly) |
single nucleotide variant |
not provided [RCV003570990] |
Chr1:161170681 [GRCh38]
Chr1:161140471 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1 |
copy number loss |
not provided [RCV003483944] |
Chr1:158001058..162858285 [GRCh37]
Chr1:1q23.1-23.3 |
likely pathogenic |
| NM_001122764.3(PPOX):c.688C>T (p.Arg230Cys) |
single nucleotide variant |
Variegate porphyria [RCV003448590] |
Chr1:161169064 [GRCh38]
Chr1:161138854 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.245C>T (p.Ser82Leu) |
single nucleotide variant |
not provided [RCV003443804] |
Chr1:161167393 [GRCh38]
Chr1:161137183 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.1047C>T (p.Asp349=) |
single nucleotide variant |
not specified [RCV003405008] |
Chr1:161170468 [GRCh38]
Chr1:161140258 [GRCh37]
Chr1:1q23.3 |
likely benign |
| NM_001122764.3(PPOX):c.361C>G (p.Pro121Ala) |
single nucleotide variant |
not provided [RCV003574207] |
Chr1:161168017 [GRCh38]
Chr1:161137807 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.97G>T (p.Val33Leu) |
single nucleotide variant |
not provided [RCV003716170] |
Chr1:161167109 [GRCh38]
Chr1:161136899 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.616+15A>G |
single nucleotide variant |
not provided [RCV003829756] |
Chr1:161168591 [GRCh38]
Chr1:161138381 [GRCh37]
Chr1:1q23.3 |
likely benign |
| NM_001122764.3(PPOX):c.1097C>T (p.Thr366Ile) |
single nucleotide variant |
not provided [RCV003696410] |
Chr1:161170518 [GRCh38]
Chr1:161140308 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.134C>A (p.Ser45Tyr) |
single nucleotide variant |
not provided [RCV003574473] |
Chr1:161167146 [GRCh38]
Chr1:161136936 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.1014AGA[1] (p.Glu339del) |
microsatellite |
not provided [RCV003695775] |
Chr1:161170435..161170437 [GRCh38]
Chr1:161140225..161140227 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.1316C>G (p.Ala439Gly) |
single nucleotide variant |
not provided [RCV003578523] |
Chr1:161171058 [GRCh38]
Chr1:161140848 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.213C>A (p.Thr71=) |
single nucleotide variant |
not provided [RCV003879780] |
Chr1:161167225 [GRCh38]
Chr1:161137015 [GRCh37]
Chr1:1q23.3 |
likely benign |
| NM_001122764.3(PPOX):c.1325T>A (p.Leu442Ter) |
single nucleotide variant |
not provided [RCV003827596] |
Chr1:161171067 [GRCh38]
Chr1:161140857 [GRCh37]
Chr1:1q23.3 |
pathogenic |
| NM_001122764.3(PPOX):c.668G>A (p.Arg223His) |
single nucleotide variant |
not provided [RCV003726659] |
Chr1:161169044 [GRCh38]
Chr1:161138834 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.809T>C (p.Val270Ala) |
single nucleotide variant |
not provided [RCV003852610] |
Chr1:161169661 [GRCh38]
Chr1:161139451 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.82C>A (p.Pro28Thr) |
single nucleotide variant |
not provided [RCV003725697] |
Chr1:161166929 [GRCh38]
Chr1:161136719 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.441C>G (p.His147Gln) |
single nucleotide variant |
not provided [RCV003673919] |
Chr1:161168097 [GRCh38]
Chr1:161137887 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.1243C>T (p.His415Tyr) |
single nucleotide variant |
not provided [RCV003836891] |
Chr1:161170764 [GRCh38]
Chr1:161140554 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.807+13C>G |
single nucleotide variant |
not provided [RCV003844001] |
Chr1:161169196 [GRCh38]
Chr1:161138986 [GRCh37]
Chr1:1q23.3 |
likely benign |
| NM_001122764.3(PPOX):c.1353T>C (p.Tyr451=) |
single nucleotide variant |
not provided [RCV003682337] |
Chr1:161171095 [GRCh38]
Chr1:161140885 [GRCh37]
Chr1:1q23.3 |
likely benign |
| NM_001122764.3(PPOX):c.88-18_88-15del |
microsatellite |
not provided [RCV003566825] |
Chr1:161167080..161167083 [GRCh38]
Chr1:161136870..161136873 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.1289dup (p.Glu431fs) |
duplication |
not provided [RCV003562300] |
Chr1:161170946..161170947 [GRCh38]
Chr1:161140736..161140737 [GRCh37]
Chr1:1q23.3 |
pathogenic |
| NM_001122764.3(PPOX):c.1330_1331del (p.Leu444fs) |
deletion |
not provided [RCV003562301] |
Chr1:161171072..161171073 [GRCh38]
Chr1:161140862..161140863 [GRCh37]
Chr1:1q23.3 |
likely pathogenic |
| NM_001122764.3(PPOX):c.987+6A>T |
single nucleotide variant |
not provided [RCV003710889] |
Chr1:161170030 [GRCh38]
Chr1:161139820 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.1070A>C (p.Asp357Ala) |
single nucleotide variant |
not provided [RCV003551593] |
Chr1:161170491 [GRCh38]
Chr1:161140281 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.1071C>T (p.Asp357=) |
single nucleotide variant |
not provided [RCV003566152] |
Chr1:161170492 [GRCh38]
Chr1:161140282 [GRCh37]
Chr1:1q23.3 |
likely benign |
| NM_001122764.3(PPOX):c.1065G>C (p.Glu355Asp) |
single nucleotide variant |
not provided [RCV003551247] |
Chr1:161170486 [GRCh38]
Chr1:161140276 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.684A>G (p.Ser228=) |
single nucleotide variant |
not provided [RCV003721868] |
Chr1:161169060 [GRCh38]
Chr1:161138850 [GRCh37]
Chr1:1q23.3 |
likely benign |
| NM_001122764.3(PPOX):c.910C>T (p.Arg304Cys) |
single nucleotide variant |
not provided [RCV003869705] |
Chr1:161169947 [GRCh38]
Chr1:161139737 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.251T>G (p.Val84Gly) |
single nucleotide variant |
not provided [RCV003562299] |
Chr1:161167399 [GRCh38]
Chr1:161137189 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.972C>T (p.Ala324=) |
single nucleotide variant |
not provided [RCV003551850] |
Chr1:161170009 [GRCh38]
Chr1:161139799 [GRCh37]
Chr1:1q23.3 |
likely benign |
| NM_001122764.3(PPOX):c.800G>A (p.Arg267His) |
single nucleotide variant |
not provided [RCV003847940] |
Chr1:161169176 [GRCh38]
Chr1:161138966 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.667C>T (p.Arg223Cys) |
single nucleotide variant |
not provided [RCV003728865] |
Chr1:161169043 [GRCh38]
Chr1:161138833 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.366C>T (p.Phe122=) |
single nucleotide variant |
not provided [RCV003710716] |
Chr1:161168022 [GRCh38]
Chr1:161137812 [GRCh37]
Chr1:1q23.3 |
likely benign |
| NM_001122764.3(PPOX):c.168T>C (p.Leu56=) |
single nucleotide variant |
not provided [RCV003820832] |
Chr1:161167180 [GRCh38]
Chr1:161136970 [GRCh37]
Chr1:1q23.3 |
likely benign |
| NM_001122764.3(PPOX):c.1281G>C (p.Trp427Cys) |
single nucleotide variant |
not provided [RCV003680445] |
Chr1:161170939 [GRCh38]
Chr1:161140729 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.1390C>T (p.Arg464Cys) |
single nucleotide variant |
not provided [RCV003857248] |
Chr1:161171132 [GRCh38]
Chr1:161140922 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.182T>A (p.Ile61Asn) |
single nucleotide variant |
PPOX-related disorder [RCV003896266] |
Chr1:161167194 [GRCh38]
Chr1:161136984 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_003779.4(B4GALT3):c.1117C>T (p.Arg373Trp) |
single nucleotide variant |
not specified [RCV004423617] |
Chr1:161171881 [GRCh38]
Chr1:161141671 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
| NM_001122764.3(PPOX):c.87+1G>A |
single nucleotide variant |
Variegate porphyria [RCV003993553] |
Chr1:161166935 [GRCh38]
Chr1:161136725 [GRCh37]
Chr1:1q23.3 |
likely pathogenic |
| NM_001122764.3(PPOX):c.611G>A (p.Gly204Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004507231] |
Chr1:161168571 [GRCh38]
Chr1:161138361 [GRCh37]
Chr1:1q23.3 |
uncertain significance |
