| NM_000031.6(ALAD):c.397G>A (p.Gly133Arg) |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000018358]|not provided [RCV001851910] |
Chr9:113390798 [GRCh38]
Chr9:116153078 [GRCh37]
Chr9:9q32 |
pathogenic|likely pathogenic |
| NM_000031.6(ALAD):c.823G>A (p.Val275Met) |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000018359]|not provided [RCV001851911] |
Chr9:113389085 [GRCh38]
Chr9:116151365 [GRCh37]
Chr9:9q32 |
pathogenic|uncertain significance |
| NM_000031.6(ALAD):c.177G>C (p.Lys59Asn) |
single nucleotide variant |
ALAD*1/ALAD*2 POLYMORPHISM [RCV000018360]|Porphobilinogen synthase deficiency [RCV000371179]|not provided [RCV001509916]|not specified [RCV002247353] |
Chr9:113391611 [GRCh38]
Chr9:113391611..113391612 [GRCh38]
Chr9:116153891 [GRCh37]
Chr9:116153891..116153892 [GRCh37]
Chr9:9q32 |
pathogenic|benign|likely benign |
| NM_000031.6(ALAD):c.718C>T (p.Arg240Trp) |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000018361]|not specified [RCV000604032] |
Chr9:113389521 [GRCh38]
Chr9:116151801 [GRCh37]
Chr9:9q32 |
pathogenic|uncertain significance |
| NM_000031.6(ALAD):c.820G>A (p.Ala274Thr) |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000018362] |
Chr9:113389088 [GRCh38]
Chr9:116151368 [GRCh37]
Chr9:9q32 |
pathogenic |
| NM_000031.6(ALAD):c.36C>G (p.Phe12Leu) |
single nucleotide variant |
PORPHYRIA, ACUTE HEPATIC, DIGENIC [RCV000018363]|not provided [RCV000413492] |
Chr9:113393524 [GRCh38]
Chr9:116155804 [GRCh37]
Chr9:9q32 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000031.6(ALAD):c.165-11C>A |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000018364] |
Chr9:113391634 [GRCh38]
Chr9:116153914 [GRCh37]
Chr9:9q32 |
pathogenic |
| NM_000031.6(ALAD):c.165-11C>T |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000018365] |
Chr9:113391634 [GRCh38]
Chr9:116153914 [GRCh37]
Chr9:9q32 |
pathogenic |
| GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1 |
copy number loss |
See cases [RCV000050315] |
Chr9:99138048..115011033 [GRCh38]
Chr9:101900330..117773312 [GRCh37]
Chr9:100940151..116813133 [NCBI36]
Chr9:9q22.33-33.1 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 |
copy number gain |
See cases [RCV000050348] |
Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1 |
copy number loss |
See cases [RCV000052921] |
Chr9:99349916..115767475 [GRCh38]
Chr9:102112198..118529754 [GRCh37]
Chr9:101152019..117569575 [NCBI36]
Chr9:9q22.33-33.1 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 |
copy number gain |
See cases [RCV000053745] |
Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] |
Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3 |
copy number gain |
See cases [RCV000053752] |
Chr9:88522292..113687796 [GRCh38]
Chr9:91137207..116450076 [GRCh37]
Chr9:90327027..115489897 [NCBI36]
Chr9:9q22.1-32 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 |
copy number gain |
See cases [RCV000053746] |
Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) |
copy number gain |
See cases [RCV000133791] |
Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q32(chr9:113058848-113725516)x3 |
copy number gain |
See cases [RCV000135719] |
Chr9:113058848..113725516 [GRCh38]
Chr9:115821128..116487796 [GRCh37]
Chr9:114860949..115527617 [NCBI36]
Chr9:9q32 |
uncertain significance |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 |
copy number gain |
See cases [RCV000138783] |
Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 |
copy number gain |
See cases [RCV000139207] |
Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 |
copy number gain |
See cases [RCV000138962] |
Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3 |
pathogenic|conflicting data from submitters |
| GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1 |
copy number loss |
See cases [RCV000140794] |
Chr9:107530314..117965944 [GRCh38]
Chr9:110292595..120728222 [GRCh37]
Chr9:109332416..119768043 [NCBI36]
Chr9:9q31.2-33.1 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 |
copy number gain |
See cases [RCV000141876] |
Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 |
copy number gain |
See cases [RCV000143476] |
Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1 |
copy number loss |
See cases [RCV000148264] |
Chr9:99138048..115011033 [GRCh38]
Chr9:101900330..117773312 [GRCh37]
Chr9:100940151..116813133 [NCBI36]
Chr9:9q22.33-33.1 |
pathogenic |
| GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 |
copy number gain |
See cases [RCV000148113] |
Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 |
copy number gain |
See cases [RCV000240081] |
Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3 |
pathogenic |
| NM_000031.6(ALAD):c.-76+15G>T |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000267514] |
Chr9:113401197 [GRCh38]
Chr9:116163477 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.715-14C>A |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000321217]|not provided [RCV001521736] |
Chr9:113389538 [GRCh38]
Chr9:116151818 [GRCh37]
Chr9:9q32 |
benign|uncertain significance |
| NM_000031.5(ALAD):c.-197G>T |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000344244] |
Chr9:113401333 [GRCh38]
Chr9:116163613 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.724G>A (p.Val242Ile) |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000284880]|not provided [RCV000818462] |
Chr9:113389515 [GRCh38]
Chr9:116151795 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.521G>A (p.Arg174His) |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000285769] |
Chr9:113390454 [GRCh38]
Chr9:116152734 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.1A>G (p.Met1Val) |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000302793] |
Chr9:113393559 [GRCh38]
Chr9:116155839 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.-131C>T |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000322822] |
Chr9:113401267 [GRCh38]
Chr9:116163547 [GRCh37]
Chr9:9q32 |
likely benign|uncertain significance |
| NM_000031.6(ALAD):c.940A>G (p.Ile314Val) |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000268873]|not provided [RCV002523715] |
Chr9:113388353 [GRCh38]
Chr9:116150633 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.*813A>G |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000286592] |
Chr9:113387487 [GRCh38]
Chr9:116149767 [GRCh37]
Chr9:9q32 |
benign|uncertain significance |
| NM_000031.5(ALAD):c.-156C>A |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000348618] |
Chr9:113401292 [GRCh38]
Chr9:116163572 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.5(ALAD):c.-162dup |
duplication |
Porphobilinogen synthase deficiency [RCV000372836] |
Chr9:113401290..113401291 [GRCh38]
Chr9:116163570..116163571 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.5(ALAD):c.-155C>G |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000374074] |
Chr9:113401291 [GRCh38]
Chr9:116163571 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.15C>T (p.Ser5=) |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000271103]|not provided [RCV000888801] |
Chr9:113393545 [GRCh38]
Chr9:116155825 [GRCh37]
Chr9:9q32 |
benign|likely benign|uncertain significance |
| NM_000031.6(ALAD):c.72C>T (p.Thr24=) |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000308378]|not provided [RCV000951282] |
Chr9:113393488 [GRCh38]
Chr9:116155768 [GRCh37]
Chr9:9q32 |
benign|uncertain significance |
| NM_000031.6(ALAD):c.*1811_*1812del |
deletion |
Porphobilinogen synthase deficiency [RCV000330055] |
Chr9:113386488..113386489 [GRCh38]
Chr9:116148768..116148769 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.678G>T (p.Leu226=) |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000380543]|not provided [RCV000895725] |
Chr9:113389635 [GRCh38]
Chr9:116151915 [GRCh37]
Chr9:9q32 |
likely benign|uncertain significance |
| NM_000031.6(ALAD):c.*127C>T |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000332201]|not provided [RCV004696102] |
Chr9:113388173 [GRCh38]
Chr9:116150453 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.264C>T (p.Asp88=) |
single nucleotide variant |
ALAD-related disorder [RCV003932509]|Porphobilinogen synthase deficiency [RCV000312002]|not provided [RCV002523717] |
Chr9:113390931 [GRCh38]
Chr9:116153211 [GRCh37]
Chr9:9q32 |
likely benign|uncertain significance |
| NM_000031.6(ALAD):c.*422G>T |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000312110] |
Chr9:113387878 [GRCh38]
Chr9:116150158 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.-4C>T |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000357577] |
Chr9:113393563 [GRCh38]
Chr9:116155843 [GRCh37]
Chr9:9q32 |
likely benign|uncertain significance |
| NM_000031.6(ALAD):c.897C>T (p.Ala299=) |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000383862] |
Chr9:113389011 [GRCh38]
Chr9:116151291 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.*1675C>T |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000295110] |
Chr9:113386625 [GRCh38]
Chr9:116148905 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.501G>A (p.Pro167=) |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000336071]|not provided [RCV002523716] |
Chr9:113390474 [GRCh38]
Chr9:116152754 [GRCh37]
Chr9:9q32 |
likely benign|uncertain significance |
| NM_000031.6(ALAD):c.*1511T>C |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000384701] |
Chr9:113386789 [GRCh38]
Chr9:116149069 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.414C>T (p.Asn138=) |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000337743]|not provided [RCV001515734] |
Chr9:113390660 [GRCh38]
Chr9:116152940 [GRCh37]
Chr9:9q32 |
benign|likely benign |
| NM_000031.5(ALAD):c.-177C>T |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000296347] |
Chr9:113401313 [GRCh38]
Chr9:116163593 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.16G>A (p.Val6Ile) |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000363089]|not provided [RCV003430956] |
Chr9:113393544 [GRCh38]
Chr9:116155824 [GRCh37]
Chr9:9q32 |
likely benign|uncertain significance |
| NM_000031.6(ALAD):c.*471C>T |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000297266]|not provided [RCV004712683] |
Chr9:113387829 [GRCh38]
Chr9:116150109 [GRCh37]
Chr9:9q32 |
benign |
| NM_000031.6(ALAD):c.*1464A>G |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000340510] |
Chr9:113386836 [GRCh38]
Chr9:116149116 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.*106C>G |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000363405] |
Chr9:113388194 [GRCh38]
Chr9:116150474 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.168T>C (p.Tyr56=) |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000390608]|not provided [RCV001517936]|not specified [RCV001700362] |
Chr9:113391620 [GRCh38]
Chr9:116153900 [GRCh37]
Chr9:9q32 |
benign |
| NM_000031.6(ALAD):c.*871C>A |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000390965] |
Chr9:113387429 [GRCh38]
Chr9:116149709 [GRCh37]
Chr9:9q32 |
benign|likely benign |
| NM_000031.6(ALAD):c.439C>T (p.Arg147Cys) |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000282697] |
Chr9:113390635 [GRCh38]
Chr9:116152915 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.*1950G>A |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000319386]|not provided [RCV004712681] |
Chr9:113386350 [GRCh38]
Chr9:116148630 [GRCh37]
Chr9:9q32 |
benign |
| NM_000031.6(ALAD):c.*400G>A |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000366744] |
Chr9:113387900 [GRCh38]
Chr9:116150180 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.*613G>A |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000392520]|not provided [RCV004712682] |
Chr9:113387687 [GRCh38]
Chr9:116149967 [GRCh37]
Chr9:9q32 |
benign|likely benign |
| NM_000031.6(ALAD):c.463T>C (p.Leu155=) |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000393650]|not provided [RCV001515733] |
Chr9:113390611 [GRCh38]
Chr9:116152891 [GRCh37]
Chr9:9q32 |
benign|likely benign |
| NM_000031.6(ALAD):c.397+12C>T |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000393661]|not provided [RCV001518606] |
Chr9:113390786 [GRCh38]
Chr9:116153066 [GRCh37]
Chr9:9q32 |
benign|likely benign |
| NM_000031.5(ALAD):c.-162_-161dup |
duplication |
Porphobilinogen synthase deficiency [RCV000259453] |
Chr9:113401290..113401291 [GRCh38]
Chr9:116163570..116163571 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.5(ALAD):c.-157_-156insCG |
insertion |
Porphobilinogen synthase deficiency [RCV000293670] |
Chr9:113401291..113401292 [GRCh38]
Chr9:116163571..116163572 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.5(ALAD):c.-162_-159dup |
duplication |
Porphobilinogen synthase deficiency [RCV000319280]|not provided [RCV004696103] |
Chr9:113401290..113401291 [GRCh38]
Chr9:116163570..116163571 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.*676dup |
duplication |
Porphobilinogen synthase deficiency [RCV000341552] |
Chr9:113387623..113387624 [GRCh38]
Chr9:116149903..116149904 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.*1864A>C |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000274883] |
Chr9:113386436 [GRCh38]
Chr9:116148716 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.*381G>A |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000277091] |
Chr9:113387919 [GRCh38]
Chr9:116150199 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.931+15G>A |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000329363]|not provided [RCV002058766] |
Chr9:113388962 [GRCh38]
Chr9:116151242 [GRCh37]
Chr9:9q32 |
likely benign|uncertain significance |
| NM_000031.6(ALAD):c.*438G>C |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000405326] |
Chr9:113387862 [GRCh38]
Chr9:116150142 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.5(ALAD):c.-160_-159insA |
insertion |
Porphobilinogen synthase deficiency [RCV000389221] |
Chr9:113401295..113401296 [GRCh38]
Chr9:116163575..116163576 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.*1741G>A |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000389285] |
Chr9:113386559 [GRCh38]
Chr9:116148839 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.*1915del |
deletion |
Porphobilinogen synthase deficiency [RCV000355631] |
Chr9:113386385 [GRCh38]
Chr9:116148665 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.*459_*463del |
deletion |
Porphobilinogen synthase deficiency [RCV000356523] |
Chr9:113387837..113387841 [GRCh38]
Chr9:116150117..116150121 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.*1631G>A |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000326668] |
Chr9:113386669 [GRCh38]
Chr9:116148949 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.*1470G>A |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000290351] |
Chr9:113386830 [GRCh38]
Chr9:116149110 [GRCh37]
Chr9:9q32 |
uncertain significance |
| GRCh37/hg19 9q31.3-33.1(chr9:111348809-118687200)x1 |
copy number loss |
See cases [RCV000449308] |
Chr9:111348809..118687200 [GRCh37]
Chr9:9q31.3-33.1 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) |
copy number gain |
See cases [RCV000449375] |
Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 |
copy number gain |
not specified [RCV003986800] |
Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3 |
pathogenic |
| NM_000031.6(ALAD):c.484T>A (p.Cys162Ser) |
single nucleotide variant |
not provided [RCV000441405] |
Chr9:113390491 [GRCh38]
Chr9:116152771 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.269G>A (p.Arg90Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003352859]|not provided [RCV000430686] |
Chr9:113390926 [GRCh38]
Chr9:116153206 [GRCh37]
Chr9:9q32 |
uncertain significance |
| GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)x1 |
copy number loss |
See cases [RCV000447763] |
Chr9:104604851..126253089 [GRCh37]
Chr9:9q31.1-33.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 |
copy number gain |
See cases [RCV000448978] |
Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9q31.3-33.2(chr9:114299780-123267736)x1 |
copy number loss |
See cases [RCV000511049] |
Chr9:114299780..123267736 [GRCh37]
Chr9:9q31.3-33.2 |
pathogenic |
| NM_000031.6(ALAD):c.29G>C (p.Gly10Ala) |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000625581]|not provided [RCV001066409] |
Chr9:113393531 [GRCh38]
Chr9:116155811 [GRCh37]
Chr9:9q32 |
uncertain significance |
| GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) |
copy number gain |
Global developmental delay [RCV000626548] |
Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3 |
likely pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) |
copy number gain |
See cases [RCV000512392] |
Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3 |
pathogenic |
| NM_000031.6(ALAD):c.784C>T (p.Arg262Trp) |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV001167640]|not provided [RCV000658052] |
Chr9:113389455 [GRCh38]
Chr9:116151735 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.520C>T (p.Arg174Cys) |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV000663361] |
Chr9:113390455 [GRCh38]
Chr9:116152735 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.931+66T>C |
single nucleotide variant |
not provided [RCV001537525] |
Chr9:113388911 [GRCh38]
Chr9:116151191 [GRCh37]
Chr9:9q32 |
benign |
| GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 |
copy number gain |
not provided [RCV000748055] |
Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9q31.3-33.3(chr9:113083182-126779494)x1 |
copy number loss |
not provided [RCV000748606] |
Chr9:113083182..126779494 [GRCh37]
Chr9:9q31.3-33.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 |
copy number gain |
not provided [RCV000748053] |
Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 |
copy number gain |
not provided [RCV000748063] |
Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 |
copy number gain |
not provided [RCV000748054] |
Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3 |
pathogenic |
| NM_000031.6(ALAD):c.-75-314del |
deletion |
not provided [RCV001645722] |
Chr9:113393948 [GRCh38]
Chr9:116156228 [GRCh37]
Chr9:9q32 |
benign |
| NM_000031.6(ALAD):c.*234G>A |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV001167058] |
Chr9:113388066 [GRCh38]
Chr9:116150346 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.141C>T (p.Ile47=) |
single nucleotide variant |
not provided [RCV000924732] |
Chr9:113392142 [GRCh38]
Chr9:116154422 [GRCh37]
Chr9:9q32 |
benign |
| NM_000031.6(ALAD):c.468G>A (p.Ala156=) |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV001169533]|not provided [RCV000900521] |
Chr9:113390606 [GRCh38]
Chr9:116152886 [GRCh37]
Chr9:9q32 |
benign|likely benign |
| NM_000031.6(ALAD):c.576G>A (p.Ser192=) |
single nucleotide variant |
not provided [RCV000927585] |
Chr9:113389823 [GRCh38]
Chr9:116152103 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.165-10A>G |
single nucleotide variant |
not provided [RCV000973031] |
Chr9:113391633 [GRCh38]
Chr9:116153913 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.853C>T (p.Leu285=) |
single nucleotide variant |
not provided [RCV000882713] |
Chr9:113389055 [GRCh38]
Chr9:116151335 [GRCh37]
Chr9:9q32 |
benign |
| NM_000031.6(ALAD):c.459G>A (p.Val153=) |
single nucleotide variant |
not provided [RCV000899356] |
Chr9:113390615 [GRCh38]
Chr9:116152895 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.276C>T (p.Ser92=) |
single nucleotide variant |
not provided [RCV000921141] |
Chr9:113390919 [GRCh38]
Chr9:116153199 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.963G>A (p.Pro321=) |
single nucleotide variant |
not provided [RCV000918007] |
Chr9:113388330 [GRCh38]
Chr9:116150610 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.570+7G>T |
single nucleotide variant |
not provided [RCV000899692] |
Chr9:113390398 [GRCh38]
Chr9:116152678 [GRCh37]
Chr9:9q32 |
benign |
| NM_000031.6(ALAD):c.855G>A (p.Leu285=) |
single nucleotide variant |
not provided [RCV000914052] |
Chr9:113389053 [GRCh38]
Chr9:116151333 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.715G>A (p.Asp239Asn) |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV001169530]|not provided [RCV000801251] |
Chr9:113389524 [GRCh38]
Chr9:116151804 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.360T>C (p.Asp120=) |
single nucleotide variant |
not provided [RCV000914548] |
Chr9:113390835 [GRCh38]
Chr9:116153115 [GRCh37]
Chr9:9q32 |
benign|likely benign |
| GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 |
copy number gain |
not provided [RCV000845900] |
Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3 |
pathogenic |
| NM_000031.6(ALAD):c.910A>G (p.Met304Val) |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV001167637] |
Chr9:113388998 [GRCh38]
Chr9:116151278 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.*1280G>A |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV001169479] |
Chr9:113387020 [GRCh38]
Chr9:116149300 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.474C>G (p.Ala158=) |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV001169532] |
Chr9:113390600 [GRCh38]
Chr9:116152880 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.277G>A (p.Ala93Thr) |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV001165524]|not provided [RCV002558608] |
Chr9:113390918 [GRCh38]
Chr9:116153198 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.801+14C>T |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV001167639]|not provided [RCV003727932] |
Chr9:113389424 [GRCh38]
Chr9:116151704 [GRCh37]
Chr9:9q32 |
likely benign|uncertain significance |
| NM_000031.6(ALAD):c.425G>A (p.Arg142Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004028250]|not provided [RCV000806562] |
Chr9:113390649 [GRCh38]
Chr9:116152929 [GRCh37]
Chr9:9q32 |
likely benign|uncertain significance |
| NM_000031.6(ALAD):c.792A>G (p.Val264=) |
single nucleotide variant |
not provided [RCV000940892] |
Chr9:113389447 [GRCh38]
Chr9:116151727 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.870G>A (p.Gln290=) |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV001167638] |
Chr9:113389038 [GRCh38]
Chr9:116151318 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.770A>G (p.Tyr257Cys) |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV001167641] |
Chr9:113389469 [GRCh38]
Chr9:116151749 [GRCh37]
Chr9:9q32 |
uncertain significance |
| GRCh37/hg19 9q31.3-32(chr9:113982711-117443628)x1 |
copy number loss |
not provided [RCV000847543] |
Chr9:113982711..117443628 [GRCh37]
Chr9:9q31.3-32 |
uncertain significance |
| NM_000031.6(ALAD):c.692G>A (p.Arg231Gln) |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV001169531] |
Chr9:113389621 [GRCh38]
Chr9:116151901 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.*317T>G |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV001167057] |
Chr9:113387983 [GRCh38]
Chr9:116150263 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.*1322G>A |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV001168713]|not provided [RCV003222242] |
Chr9:113386978 [GRCh38]
Chr9:116149258 [GRCh37]
Chr9:9q32 |
likely benign|uncertain significance |
| NM_000031.6(ALAD):c.398-13A>G |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV001165523]|not provided [RCV001510242] |
Chr9:113390689 [GRCh38]
Chr9:116152969 [GRCh37]
Chr9:9q32 |
benign |
| GRCh37/hg19 9q32(chr9:116034704-116199658)x3 |
copy number gain |
not provided [RCV000847316] |
Chr9:116034704..116199658 [GRCh37]
Chr9:9q32 |
uncertain significance |
| GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 |
copy number gain |
not provided [RCV000847808] |
Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3 |
pathogenic |
| NM_000031.6(ALAD):c.813C>G (p.Leu271=) |
single nucleotide variant |
not provided [RCV000936873] |
Chr9:113389095 [GRCh38]
Chr9:116151375 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.911T>C (p.Met304Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003353216]|not provided [RCV001222164] |
Chr9:113388997 [GRCh38]
Chr9:116151277 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.241G>A (p.Val81Ile) |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV001165525] |
Chr9:113391547 [GRCh38]
Chr9:116153827 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.*1832T>C |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV001167000] |
Chr9:113386468 [GRCh38]
Chr9:116148748 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.*1803A>G |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV001167002] |
Chr9:113386497 [GRCh38]
Chr9:116148777 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.*1280G>C |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV001169478] |
Chr9:113387020 [GRCh38]
Chr9:116149300 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.262-176G>A |
single nucleotide variant |
not provided [RCV001638596] |
Chr9:113391109 [GRCh38]
Chr9:116153389 [GRCh37]
Chr9:9q32 |
benign |
| NM_000031.6(ALAD):c.932-265T>C |
single nucleotide variant |
not provided [RCV001673996] |
Chr9:113388626 [GRCh38]
Chr9:116150906 [GRCh37]
Chr9:9q32 |
benign |
| NM_000031.6(ALAD):c.571-220dup |
duplication |
not provided [RCV001671293] |
Chr9:113390037..113390038 [GRCh38]
Chr9:116152317..116152318 [GRCh37]
Chr9:9q32 |
benign |
| NM_000031.6(ALAD):c.398-34G>C |
single nucleotide variant |
not provided [RCV001534512] |
Chr9:113390710 [GRCh38]
Chr9:116152990 [GRCh37]
Chr9:9q32 |
benign |
| NM_000031.6(ALAD):c.802-141C>T |
single nucleotide variant |
not provided [RCV001677410] |
Chr9:113389247 [GRCh38]
Chr9:116151527 [GRCh37]
Chr9:9q32 |
benign |
| NM_000031.6(ALAD):c.861T>C (p.His287=) |
single nucleotide variant |
not provided [RCV000895063] |
Chr9:113389047 [GRCh38]
Chr9:116151327 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.*1804T>C |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV001167001] |
Chr9:113386496 [GRCh38]
Chr9:116148776 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.*12C>T |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV001167059] |
Chr9:113388288 [GRCh38]
Chr9:116150568 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.-70G>T |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV001167125] |
Chr9:113393629 [GRCh38]
Chr9:116155909 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.113+40TTGGGG[4] |
microsatellite |
not provided [RCV001685266] |
Chr9:113393389..113393390 [GRCh38]
Chr9:116155669..116155670 [GRCh37]
Chr9:9q32 |
benign |
| NM_000031.6(ALAD):c.570+244T>C |
single nucleotide variant |
not provided [RCV001649339] |
Chr9:113390161 [GRCh38]
Chr9:116152441 [GRCh37]
Chr9:9q32 |
benign |
| NM_000031.6(ALAD):c.113+299C>T |
single nucleotide variant |
not provided [RCV001635845] |
Chr9:113393148 [GRCh38]
Chr9:116155428 [GRCh37]
Chr9:9q32 |
benign |
| NM_000031.6(ALAD):c.*920C>T |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV001169481] |
Chr9:113387380 [GRCh38]
Chr9:116149660 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.*760T>C |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV001169483] |
Chr9:113387540 [GRCh38]
Chr9:116149820 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.113+339C>T |
single nucleotide variant |
not provided [RCV001667017] |
Chr9:113393108 [GRCh38]
Chr9:116155388 [GRCh37]
Chr9:9q32 |
benign |
| NM_000031.6(ALAD):c.165-196G>A |
single nucleotide variant |
not provided [RCV001643873] |
Chr9:113391819 [GRCh38]
Chr9:116154099 [GRCh37]
Chr9:9q32 |
benign |
| NM_000031.6(ALAD):c.262-37T>C |
single nucleotide variant |
not provided [RCV001611483] |
Chr9:113390970 [GRCh38]
Chr9:116153250 [GRCh37]
Chr9:9q32 |
benign |
| NM_000031.6(ALAD):c.262-139A>G |
single nucleotide variant |
not provided [RCV001643788] |
Chr9:113391072 [GRCh38]
Chr9:116153352 [GRCh37]
Chr9:9q32 |
benign |
| NM_000031.6(ALAD):c.*1737T>C |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV001167004]|not provided [RCV004712982] |
Chr9:113386563 [GRCh38]
Chr9:116148843 [GRCh37]
Chr9:9q32 |
benign |
| NM_000031.6(ALAD):c.*363G>A |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV001167056]|not provided [RCV004695094] |
Chr9:113387937 [GRCh38]
Chr9:116150217 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.*1473G>A |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV001168711] |
Chr9:113386827 [GRCh38]
Chr9:116149107 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.*1671A>T |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV001168710] |
Chr9:113386629 [GRCh38]
Chr9:116148909 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.*1381G>A |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV001168712] |
Chr9:113386919 [GRCh38]
Chr9:116149199 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.*1007G>A |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV001169480] |
Chr9:113387293 [GRCh38]
Chr9:116149573 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.*771C>T |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV001169482] |
Chr9:113387529 [GRCh38]
Chr9:116149809 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.*643G>T |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV001165463] |
Chr9:113387657 [GRCh38]
Chr9:116149937 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.-75-11A>G |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV001167700] |
Chr9:113393645 [GRCh38]
Chr9:116155925 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.*498C>T |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV001165464] |
Chr9:113387802 [GRCh38]
Chr9:116150082 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.*1787A>C |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV001167003] |
Chr9:113386513 [GRCh38]
Chr9:116148793 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.50G>A (p.Arg17Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002547501]|not provided [RCV001350245] |
Chr9:113393510 [GRCh38]
Chr9:116155790 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.24C>T (p.His8=) |
single nucleotide variant |
ALAD-related disorder [RCV003920931]|not provided [RCV001433201] |
Chr9:113393536 [GRCh38]
Chr9:116155816 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.179G>A (p.Arg60Gln) |
single nucleotide variant |
not provided [RCV001373930] |
Chr9:113391609 [GRCh38]
Chr9:116153889 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.874G>A (p.Gly292Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002546758]|Porphobilinogen synthase deficiency [RCV001336064]|not provided [RCV002546759] |
Chr9:113389034 [GRCh38]
Chr9:116151314 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.113+1G>A |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV001336063] |
Chr9:113393446 [GRCh38]
Chr9:116155726 [GRCh37]
Chr9:9q32 |
pathogenic |
| NM_000031.6(ALAD):c.51G>C (p.Arg17=) |
single nucleotide variant |
not provided [RCV001456994] |
Chr9:113393509 [GRCh38]
Chr9:116155789 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.444G>A (p.Gln148=) |
single nucleotide variant |
not provided [RCV001471627] |
Chr9:113390630 [GRCh38]
Chr9:116152910 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.802-115A>G |
single nucleotide variant |
not provided [RCV001617627] |
Chr9:113389221 [GRCh38]
Chr9:116151501 [GRCh37]
Chr9:9q32 |
benign |
| NM_000031.6(ALAD):c.992G>A (p.Ter331=) |
single nucleotide variant |
not provided [RCV001393407] |
Chr9:113388301 [GRCh38]
Chr9:116150581 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.481+1G>T |
single nucleotide variant |
not provided [RCV001379436] |
Chr9:113390592 [GRCh38]
Chr9:116152872 [GRCh37]
Chr9:9q32 |
likely pathogenic |
| GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) |
copy number gain |
not specified [RCV002053823] |
Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3 |
pathogenic |
| GRCh37/hg19 9q32(chr9:115883313-116179965) |
copy number gain |
not specified [RCV002052830] |
Chr9:115883313..116179965 [GRCh37]
Chr9:9q32 |
uncertain significance |
| GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089) |
copy number loss |
not specified [RCV002052825] |
Chr9:104604851..126253089 [GRCh37]
Chr9:9q31.1-33.3 |
pathogenic |
| NM_000031.6(ALAD):c.661C>T (p.Arg221Cys) |
single nucleotide variant |
not provided [RCV002021205] |
Chr9:113389652 [GRCh38]
Chr9:116151932 [GRCh37]
Chr9:9q32 |
uncertain significance |
| GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410) |
copy number gain |
not specified [RCV002053853] |
Chr9:71349994..122603410 [GRCh37]
Chr9:9q21.11-33.2 |
likely pathogenic |
| GRCh37/hg19 9q31.2-32(chr9:109265628-117650999) |
copy number loss |
not specified [RCV002052828] |
Chr9:109265628..117650999 [GRCh37]
Chr9:9q31.2-32 |
likely pathogenic |
| NM_000031.6(ALAD):c.780C>A (p.Ile260=) |
single nucleotide variant |
not provided [RCV002020747] |
Chr9:113389459 [GRCh38]
Chr9:116151739 [GRCh37]
Chr9:9q32 |
likely benign|uncertain significance |
| NM_000031.6(ALAD):c.287C>T (p.Ser96Phe) |
single nucleotide variant |
not provided [RCV001930319] |
Chr9:113390908 [GRCh38]
Chr9:116153188 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.27C>T (p.Ser9=) |
single nucleotide variant |
not provided [RCV002038346] |
Chr9:113393533 [GRCh38]
Chr9:116155813 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.28G>A (p.Gly10Ser) |
single nucleotide variant |
not provided [RCV001943575] |
Chr9:113393532 [GRCh38]
Chr9:116155812 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.520C>G (p.Arg174Gly) |
single nucleotide variant |
not provided [RCV001997054] |
Chr9:113390455 [GRCh38]
Chr9:116152735 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.135G>C (p.Gln45His) |
single nucleotide variant |
Inborn genetic diseases [RCV004631787]|not provided [RCV001897798] |
Chr9:113392148 [GRCh38]
Chr9:116154428 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.407G>A (p.Ser136Asn) |
single nucleotide variant |
not provided [RCV001878888] |
Chr9:113390667 [GRCh38]
Chr9:116152947 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NC_000009.11:g.(?_116041205)_(116155839_?)dup |
duplication |
not provided [RCV001920545] |
Chr9:116041205..116155839 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.80A>G (p.Asn27Ser) |
single nucleotide variant |
not provided [RCV002014529] |
Chr9:113393480 [GRCh38]
Chr9:116155760 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.797A>G (p.Asp266Gly) |
single nucleotide variant |
not provided [RCV001998389] |
Chr9:113389442 [GRCh38]
Chr9:116151722 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.873C>T (p.Ala291=) |
single nucleotide variant |
not provided [RCV002085573] |
Chr9:113389035 [GRCh38]
Chr9:116151315 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.113+19G>A |
single nucleotide variant |
not provided [RCV002148354] |
Chr9:113393428 [GRCh38]
Chr9:116155708 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.626+15G>A |
single nucleotide variant |
not provided [RCV002127551] |
Chr9:113389758 [GRCh38]
Chr9:116152038 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.312A>C (p.Ala104=) |
single nucleotide variant |
not provided [RCV002086155] |
Chr9:113390883 [GRCh38]
Chr9:116153163 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.801+15G>A |
single nucleotide variant |
not provided [RCV002092358] |
Chr9:113389423 [GRCh38]
Chr9:116151703 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.113+15A>G |
single nucleotide variant |
not provided [RCV002077108] |
Chr9:113393432 [GRCh38]
Chr9:116155712 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.367C>T (p.Leu123=) |
single nucleotide variant |
not provided [RCV002089116] |
Chr9:113390828 [GRCh38]
Chr9:116153108 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.114-11C>G |
single nucleotide variant |
not provided [RCV002116245] |
Chr9:113392180 [GRCh38]
Chr9:116154460 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.387T>C (p.His129=) |
single nucleotide variant |
not provided [RCV002148011] |
Chr9:113390808 [GRCh38]
Chr9:116153088 [GRCh37]
Chr9:9q32 |
likely benign |
| NC_000009.11:g.(?_116037910)_(116993432_?)dup |
duplication |
not provided [RCV003123074] |
Chr9:116037910..116993432 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.446G>A (p.Arg149Gln) |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV003129570] |
Chr9:113390628 [GRCh38]
Chr9:116152908 [GRCh37]
Chr9:9q32 |
uncertain significance |
| GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 |
copy number gain |
See cases [RCV002292402] |
Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11 |
pathogenic |
| GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) |
copy number loss |
Distal tetrasomy 15q [RCV002280776] |
Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1 |
uncertain significance |
| NM_000031.6(ALAD):c.988G>A (p.Glu330Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003299474] |
Chr9:113388305 [GRCh38]
Chr9:116150585 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.317A>G (p.His106Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003264500] |
Chr9:113390878 [GRCh38]
Chr9:116153158 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.819C>T (p.Leu273=) |
single nucleotide variant |
not provided [RCV002616812] |
Chr9:113389089 [GRCh38]
Chr9:116151369 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.508ATG[1] (p.Met171del) |
microsatellite |
not provided [RCV002996963] |
Chr9:113390462..113390464 [GRCh38]
Chr9:116152742..116152744 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.93C>G (p.Leu31=) |
single nucleotide variant |
not provided [RCV003017237] |
Chr9:113393467 [GRCh38]
Chr9:116155747 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.36C>T (p.Phe12=) |
single nucleotide variant |
not provided [RCV002903407] |
Chr9:113393524 [GRCh38]
Chr9:116155804 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.661C>A (p.Arg221Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002950084] |
Chr9:113389652 [GRCh38]
Chr9:116151932 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.126T>A (p.Asp42Glu) |
single nucleotide variant |
not provided [RCV002913374] |
Chr9:113392157 [GRCh38]
Chr9:116154437 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.571-20C>G |
single nucleotide variant |
not provided [RCV003053360] |
Chr9:113389848 [GRCh38]
Chr9:116152128 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.221G>A (p.Arg74His) |
single nucleotide variant |
Inborn genetic diseases [RCV002737324] |
Chr9:113391567 [GRCh38]
Chr9:116153847 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.644G>A (p.Ser215Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002873497] |
Chr9:113389669 [GRCh38]
Chr9:116151949 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.771C>T (p.Tyr257=) |
single nucleotide variant |
not provided [RCV003083045] |
Chr9:113389468 [GRCh38]
Chr9:116151748 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.240C>T (p.Gly80=) |
single nucleotide variant |
not provided [RCV002626909] |
Chr9:113391548 [GRCh38]
Chr9:116153828 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.113C>A (p.Thr38Lys) |
single nucleotide variant |
not provided [RCV002833735] |
Chr9:113393447 [GRCh38]
Chr9:116155727 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.482-11C>T |
single nucleotide variant |
not provided [RCV002716777] |
Chr9:113390504 [GRCh38]
Chr9:116152784 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.251G>A (p.Arg84Lys) |
single nucleotide variant |
not provided [RCV002629732] |
Chr9:113391537 [GRCh38]
Chr9:116153817 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.802-18C>T |
single nucleotide variant |
not provided [RCV002600627] |
Chr9:113389124 [GRCh38]
Chr9:116151404 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.589A>C (p.Ser197Arg) |
single nucleotide variant |
not provided [RCV002607322] |
Chr9:113389810 [GRCh38]
Chr9:116152090 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.478G>A (p.Ala160Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003176046] |
Chr9:113390596 [GRCh38]
Chr9:116152876 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.961C>T (p.Pro321Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003351767] |
Chr9:113388332 [GRCh38]
Chr9:116150612 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.903G>A (p.Leu301=) |
single nucleotide variant |
not provided [RCV003543874] |
Chr9:113389005 [GRCh38]
Chr9:116151285 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.164+10G>A |
single nucleotide variant |
not provided [RCV003872514] |
Chr9:113392109 [GRCh38]
Chr9:116154389 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.415G>A (p.Gly139Arg) |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV003486361] |
Chr9:113390659 [GRCh38]
Chr9:116152939 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.931+20G>T |
single nucleotide variant |
not provided [RCV003698641] |
Chr9:113388957 [GRCh38]
Chr9:116151237 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.492G>A (p.Val164=) |
single nucleotide variant |
not provided [RCV003705194] |
Chr9:113390483 [GRCh38]
Chr9:116152763 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.931+17G>A |
single nucleotide variant |
not provided [RCV003864510] |
Chr9:113388960 [GRCh38]
Chr9:116151240 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.114-8T>A |
single nucleotide variant |
not provided [RCV003710732] |
Chr9:113392177 [GRCh38]
Chr9:116154457 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.165-2A>G |
single nucleotide variant |
Porphobilinogen synthase deficiency [RCV003993650] |
Chr9:113391625 [GRCh38]
Chr9:116153905 [GRCh37]
Chr9:9q32 |
likely pathogenic |
| NM_000031.6(ALAD):c.114-108C>T |
single nucleotide variant |
ALAD-related disorder [RCV003914208] |
Chr9:113392277 [GRCh38]
Chr9:116154557 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.572T>C (p.Val191Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004400259] |
Chr9:113389827 [GRCh38]
Chr9:116152107 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.664C>T (p.Arg222Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004400264]|not provided [RCV004767538] |
Chr9:113389649 [GRCh38]
Chr9:116151929 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.539A>G (p.Glu180Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004400252] |
Chr9:113390436 [GRCh38]
Chr9:116152716 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.91C>T (p.Leu31Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004627165] |
Chr9:113393469 [GRCh38]
Chr9:116155749 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.714+8del |
deletion |
ALAD-related disorder [RCV004758540] |
Chr9:113389591 [GRCh38]
Chr9:116151871 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.647C>T (p.Pro216Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004982412] |
Chr9:113389666 [GRCh38]
Chr9:116151946 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.49C>T (p.Arg17Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV004983661] |
Chr9:113393511 [GRCh38]
Chr9:116155791 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.714+18G>C |
single nucleotide variant |
not provided [RCV005088064] |
Chr9:113389581 [GRCh38]
Chr9:116151861 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.780C>T (p.Ile260=) |
single nucleotide variant |
not provided [RCV005064136] |
Chr9:113389459 [GRCh38]
Chr9:116151739 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.654T>C (p.Phe218=) |
single nucleotide variant |
not provided [RCV005064535] |
Chr9:113389659 [GRCh38]
Chr9:116151939 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.571-14T>C |
single nucleotide variant |
not provided [RCV005064593] |
Chr9:113389842 [GRCh38]
Chr9:116152122 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.397+16C>T |
single nucleotide variant |
not provided [RCV005087507] |
Chr9:113390782 [GRCh38]
Chr9:116153062 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.498C>A (p.Ala166=) |
single nucleotide variant |
not provided [RCV005167920] |
Chr9:113390477 [GRCh38]
Chr9:116152757 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.901C>T (p.Leu301=) |
single nucleotide variant |
not provided [RCV005185671] |
Chr9:113389007 [GRCh38]
Chr9:116151287 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.288C>T (p.Ser96=) |
single nucleotide variant |
not provided [RCV005153442] |
Chr9:113390907 [GRCh38]
Chr9:116153187 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.503C>T (p.Ser168Leu) |
single nucleotide variant |
not provided [RCV005188745] |
Chr9:113390472 [GRCh38]
Chr9:116152752 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.330G>T (p.Lys110Asn) |
single nucleotide variant |
not provided [RCV005187600] |
Chr9:113390865 [GRCh38]
Chr9:116153145 [GRCh37]
Chr9:9q32 |
uncertain significance |
| NM_000031.6(ALAD):c.753G>A (p.Val251=) |
single nucleotide variant |
not provided [RCV005159469] |
Chr9:113389486 [GRCh38]
Chr9:116151766 [GRCh37]
Chr9:9q32 |
likely benign |
| NM_000031.6(ALAD):c.876G>A (p.Gly292=) |
single nucleotide variant |
not provided [RCV005069718] |
Chr9:113389032 [GRCh38]
Chr9:116151312 [GRCh37]
Chr9:9q32 |
likely benign |
