NM_198252.3(GSN):c.1390_1392delinsTAT (p.Glu464Tyr) |
indel |
not provided [RCV000723078] |
Chr9:121324618..121324620 [GRCh38] Chr9:124086896..124086898 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.487G>A (p.Asp163Asn) |
single nucleotide variant |
Finnish type amyloidosis [RCV000017564]|Inborn genetic diseases [RCV002362587]|not provided [RCV000489240] |
Chr9:121310819 [GRCh38] Chr9:124073097 [GRCh37] Chr9:9q33.2 |
pathogenic |
NM_198252.3(GSN):c.487G>T (p.Asp163Tyr) |
single nucleotide variant |
Finnish type amyloidosis [RCV000017565]|not provided [RCV003556034] |
Chr9:121310819 [GRCh38] Chr9:124073097 [GRCh37] Chr9:9q33.2 |
pathogenic|likely 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 9q33.2-34.3(chr9:121112395-138075224)x3 |
copy number gain |
See cases [RCV000051009] |
Chr9:121112395..138075224 [GRCh38] Chr9:123874673..140969676 [GRCh37] Chr9:122914494..140089497 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
GRCh38/hg38 9q33.2-33.3(chr9:120938041-123469664)x1 |
copy number loss |
See cases [RCV000052922] |
Chr9:120938041..123469664 [GRCh38] Chr9:123700319..126231943 [GRCh37] Chr9:122740140..125271764 [NCBI36] Chr9:9q33.2-33.3 |
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 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 9q33.2-34.3(chr9:121073102-138179445)x3 |
copy number gain |
See cases [RCV000134920] |
Chr9:121073102..138179445 [GRCh38] Chr9:123835380..141073897 [GRCh37] Chr9:122875201..140193718 [NCBI36] Chr9:9q33.2-34.3 |
pathogenic |
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 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 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_198252.3(GSN):c.1663G>A (p.Val555Met) |
single nucleotide variant |
Finnish type amyloidosis [RCV000267836]|GSN-related disorder [RCV003932513]|Inborn genetic diseases [RCV002411261]|not provided [RCV000908629]|not specified [RCV001821113] |
Chr9:121327383 [GRCh38] Chr9:124089661 [GRCh37] Chr9:9q33.2 |
benign|likely benign |
NM_198252.3(GSN):c.781G>A (p.Val261Ile) |
single nucleotide variant |
Amyloidosis [RCV000283584]|Finnish type amyloidosis [RCV002481255]|not provided [RCV002523732] |
Chr9:121317113 [GRCh38] Chr9:124079391 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1191+4C>T |
single nucleotide variant |
Finnish type amyloidosis [RCV000343885]|Inborn genetic diseases [RCV002379252]|not provided [RCV001865246] |
Chr9:121318884 [GRCh38] Chr9:124081162 [GRCh37] Chr9:9q33.2 |
benign|likely benign|uncertain significance |
NM_198252.3(GSN):c.1563C>T (p.Ser521=) |
single nucleotide variant |
Finnish type amyloidosis [RCV000321730]|Inborn genetic diseases [RCV002402083]|not provided [RCV002058768] |
Chr9:121326658 [GRCh38] Chr9:124088936 [GRCh37] Chr9:9q33.2 |
benign|likely benign |
NM_198252.3(GSN):c.1694C>T (p.Thr565Met) |
single nucleotide variant |
Finnish type amyloidosis [RCV000322979]|not provided [RCV001683444] |
Chr9:121327414 [GRCh38] Chr9:124089692 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.1487A>G (p.Tyr496Cys) |
single nucleotide variant |
Finnish type amyloidosis [RCV000369097]|Inborn genetic diseases [RCV002402080]|not provided [RCV002061312] |
Chr9:121326582 [GRCh38] Chr9:124088860 [GRCh37] Chr9:9q33.2 |
benign|likely benign |
NM_198252.3(GSN):c.196+7C>T |
single nucleotide variant |
Finnish type amyloidosis [RCV000371221]|not provided [RCV000879016] |
Chr9:121302174 [GRCh38] Chr9:124064452 [GRCh37] Chr9:9q33.2 |
benign|likely benign |
NM_198252.3(GSN):c.271C>T (p.Arg91Trp) |
single nucleotide variant |
Finnish type amyloidosis [RCV000372173]|Inborn genetic diseases [RCV002328888]|not provided [RCV001865245] |
Chr9:121302985 [GRCh38] Chr9:124065263 [GRCh37] Chr9:9q33.2 |
benign|likely benign|uncertain significance |
NM_198252.3(GSN):c.1098G>A (p.Val366=) |
single nucleotide variant |
Finnish type amyloidosis [RCV000397866]|Inborn genetic diseases [RCV002411260]|not provided [RCV002061311] |
Chr9:121318787 [GRCh38] Chr9:124081065 [GRCh37] Chr9:9q33.2 |
benign|likely benign |
NM_198252.3(GSN):c.1288C>T (p.Arg430Cys) |
single nucleotide variant |
Finnish type amyloidosis [RCV000398476]|GSN-related disorder [RCV003932512]|Inborn genetic diseases [RCV002392924]|not provided [RCV000882012]|not specified [RCV001821112] |
Chr9:121321364 [GRCh38] Chr9:124083642 [GRCh37] Chr9:9q33.2 |
benign|likely benign |
NM_198252.3(GSN):c.*136dup |
duplication |
Amyloidosis [RCV000305154] |
Chr9:121332725..121332726 [GRCh38] Chr9:124095003..124095004 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.*185G>A |
single nucleotide variant |
Finnish type amyloidosis [RCV000326004] |
Chr9:121332788 [GRCh38] Chr9:124095066 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1260C>T (p.Gly420=) |
single nucleotide variant |
Finnish type amyloidosis [RCV000349867]|GSN-related disorder [RCV003957863]|not provided [RCV001643104] |
Chr9:121321336 [GRCh38] Chr9:124083614 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.*205G>A |
single nucleotide variant |
Finnish type amyloidosis [RCV000272138] |
Chr9:121332808 [GRCh38] Chr9:124095086 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1170C>T (p.Asp390=) |
single nucleotide variant |
Finnish type amyloidosis [RCV000288952]|GSN-related disorder [RCV004755904]|Inborn genetic diseases [RCV002379251]|not provided [RCV000921208] |
Chr9:121318859 [GRCh38] Chr9:124081137 [GRCh37] Chr9:9q33.2 |
benign|likely benign |
NM_198252.3(GSN):c.1577G>A (p.Arg526Gln) |
single nucleotide variant |
Finnish type amyloidosis [RCV000376344]|Inborn genetic diseases [RCV002402084]|not provided [RCV002523734] |
Chr9:121326672 [GRCh38] Chr9:124088950 [GRCh37] Chr9:9q33.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_198252.3(GSN):c.1239A>G (p.Thr413=) |
single nucleotide variant |
Finnish type amyloidosis [RCV000308967]|Inborn genetic diseases [RCV002392923]|not provided [RCV000956749]|not specified [RCV001796018] |
Chr9:121321315 [GRCh38] Chr9:124083593 [GRCh37] Chr9:9q33.2 |
benign|likely benign |
NM_198252.3(GSN):c.2115T>C (p.Phe705=) |
single nucleotide variant |
Finnish type amyloidosis [RCV000352565]|not provided [RCV001595002] |
Chr9:121332522 [GRCh38] Chr9:124094800 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.723G>A (p.Ala241=) |
single nucleotide variant |
Finnish type amyloidosis [RCV000378084]|Inborn genetic diseases [RCV002374606] |
Chr9:121313993 [GRCh38] Chr9:124076271 [GRCh37] Chr9:9q33.2 |
likely benign|uncertain significance |
NM_198252.3(GSN):c.1931C>T (p.Thr644Met) |
single nucleotide variant |
Finnish type amyloidosis [RCV000291668]|Inborn genetic diseases [RCV002418218]|not provided [RCV000891402] |
Chr9:121329281 [GRCh38] Chr9:124091559 [GRCh37] Chr9:9q33.2 |
benign|likely benign |
NM_198252.3(GSN):c.163G>A (p.Gly55Arg) |
single nucleotide variant |
Finnish type amyloidosis [RCV000330487] |
Chr9:121302134 [GRCh38] Chr9:124064412 [GRCh37] Chr9:9q33.2 |
benign|likely benign |
NM_198252.3(GSN):c.123C>T (p.Gly41=) |
single nucleotide variant |
Finnish type amyloidosis [RCV000275412]|GSN-related disorder [RCV003972537]|Inborn genetic diseases [RCV002436223]|not provided [RCV002523730] |
Chr9:121302094 [GRCh38] Chr9:124064372 [GRCh37] Chr9:9q33.2 |
likely benign|uncertain significance |
NM_198252.3(GSN):c.1782G>A (p.Leu594=) |
single nucleotide variant |
Finnish type amyloidosis [RCV000381432]|Inborn genetic diseases [RCV002411262]|not provided [RCV000964310]|not specified [RCV001821114] |
Chr9:121328910 [GRCh38] Chr9:124091188 [GRCh37] Chr9:9q33.2 |
benign|likely benign |
NM_198252.3(GSN):c.1513G>A (p.Gly505Arg) |
single nucleotide variant |
Finnish type amyloidosis [RCV000260878]|Inborn genetic diseases [RCV002402081]|not provided [RCV002061313]|not specified [RCV003151050] |
Chr9:121326608 [GRCh38] Chr9:124088886 [GRCh37] Chr9:9q33.2 |
benign|likely benign |
NM_198252.3(GSN):c.232G>A (p.Ala78Thr) |
single nucleotide variant |
Finnish type amyloidosis [RCV000276675]|not provided [RCV001692064] |
Chr9:121302946 [GRCh38] Chr9:124065224 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.2046G>A (p.Thr682=) |
single nucleotide variant |
Finnish type amyloidosis [RCV000292978]|Inborn genetic diseases [RCV002429331]|not provided [RCV000924267] |
Chr9:121332453 [GRCh38] Chr9:124094731 [GRCh37] Chr9:9q33.2 |
benign|likely benign |
NM_198252.3(GSN):c.1553G>A (p.Arg518His) |
single nucleotide variant |
Finnish type amyloidosis [RCV000356817] |
Chr9:121326648 [GRCh38] Chr9:124088926 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1555G>A (p.Ala519Thr) |
single nucleotide variant |
Finnish type amyloidosis [RCV000262080]|Inborn genetic diseases [RCV002402082]|not provided [RCV001531107] |
Chr9:121326650 [GRCh38] Chr9:124088928 [GRCh37] Chr9:9q33.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_198252.3(GSN):c.1421G>A (p.Arg474His) |
single nucleotide variant |
Finnish type amyloidosis [RCV000314461]|Inborn genetic diseases [RCV002402079]|not provided [RCV001850932] |
Chr9:121326516 [GRCh38] Chr9:124088794 [GRCh37] Chr9:9q33.2 |
benign|likely benign|uncertain significance |
NM_198252.3(GSN):c.1535C>G (p.Thr512Ser) |
single nucleotide variant |
Finnish type amyloidosis [RCV000297409]|not provided [RCV002058767] |
Chr9:121326630 [GRCh38] Chr9:124088908 [GRCh37] Chr9:9q33.2 |
benign|likely benign |
NM_198252.3(GSN):c.1225G>A (p.Val409Met) |
single nucleotide variant |
Finnish type amyloidosis [RCV000390100]|Inborn genetic diseases [RCV002379253]|not provided [RCV001729569]|not specified [RCV003151049] |
Chr9:121321301 [GRCh38] Chr9:124083579 [GRCh37] Chr9:9q33.2 |
benign|likely benign |
NM_198252.3(GSN):c.382G>A (p.Val128Met) |
single nucleotide variant |
Finnish type amyloidosis [RCV000282194]|not provided [RCV000957620]|not specified [RCV001821111] |
Chr9:121310714 [GRCh38] Chr9:124072992 [GRCh37] Chr9:9q33.2 |
benign|likely benign |
NM_198252.3(GSN):c.243C>T (p.Thr81=) |
single nucleotide variant |
Finnish type amyloidosis [RCV000317499]|Inborn genetic diseases [RCV002374605]|not provided [RCV000881338]|not specified [RCV001821110] |
Chr9:121302957 [GRCh38] Chr9:124065235 [GRCh37] Chr9:9q33.2 |
benign|likely benign |
NM_198252.3(GSN):c.546T>G (p.Asn182Lys) |
single nucleotide variant |
Finnish type amyloidosis [RCV000318498]|not provided [RCV002523731] |
Chr9:121312371 [GRCh38] Chr9:124074649 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.29A>G (p.Lys10Arg) |
single nucleotide variant |
Finnish type amyloidosis [RCV000365448]|GSN-related disorder [RCV003912565]|not provided [RCV000956748] |
Chr9:121302000 [GRCh38] Chr9:124064278 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.*116_*117insG |
insertion |
Amyloidosis [RCV000300139] |
Chr9:121332719..121332720 [GRCh38] Chr9:124094997..124094998 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1037G>A (p.Arg346Gln) |
single nucleotide variant |
Finnish type amyloidosis [RCV000343155]|Inborn genetic diseases [RCV002348120]|not provided [RCV002523733] |
Chr9:121318726 [GRCh38] Chr9:124081004 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.*126T>C |
single nucleotide variant |
Finnish type amyloidosis [RCV000269863] |
Chr9:121332729 [GRCh38] Chr9:124095007 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.*97GT[11] |
microsatellite |
Amyloidosis [RCV000298820]|not provided [RCV004696106] |
Chr9:121332699..121332700 [GRCh38] Chr9:124094977..124094978 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.*97GT[12] |
microsatellite |
Amyloidosis [RCV000335203] |
Chr9:121332699..121332700 [GRCh38] Chr9:124094977..124094978 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.*120_*121insG |
insertion |
Amyloidosis [RCV000264032] |
Chr9:121332723..121332724 [GRCh38] Chr9:124095001..124095002 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.*116_*117insGTG |
insertion |
Amyloidosis [RCV000359616] |
Chr9:121332719..121332720 [GRCh38] Chr9:124094997..124094998 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.*97GT[13] |
microsatellite |
Amyloidosis [RCV000402364] |
Chr9:121332699..121332700 [GRCh38] Chr9:124094977..124094978 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1942A>G (p.Met648Val) |
single nucleotide variant |
Finnish type amyloidosis [RCV000346533]|not provided [RCV005090604] |
Chr9:121329292 [GRCh38] Chr9:124091570 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.*194G>A |
single nucleotide variant |
Finnish type amyloidosis [RCV000385243] |
Chr9:121332797 [GRCh38] Chr9:124095075 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.2002G>A (p.Glu668Lys) |
single nucleotide variant |
Finnish type amyloidosis [RCV000387049] |
Chr9:121331424 [GRCh38] Chr9:124093702 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-2137C>T |
single nucleotide variant |
Finnish type amyloidosis [RCV000407809] |
Chr9:121299826 [GRCh38] Chr9:124062104 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-2021G>A |
single nucleotide variant |
Finnish type amyloidosis [RCV000310766]|Inborn genetic diseases [RCV002429330]|not provided [RCV001861339] |
Chr9:121299942 [GRCh38] Chr9:124062220 [GRCh37] Chr9:9q33.2 |
likely benign|uncertain significance |
NM_198252.3(GSN):c.*97_*98insGGTG |
insertion |
Amyloidosis [RCV000395703] |
Chr9:121332699..121332700 [GRCh38] Chr9:124094977..124094978 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.*124_*125insC |
insertion |
Amyloidosis [RCV000359858] |
Chr9:121332727..121332728 [GRCh38] Chr9:124095005..124095006 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-1967C>T |
single nucleotide variant |
Finnish type amyloidosis [RCV001169574]|not provided [RCV002068043]|not specified [RCV001819870] |
Chr9:121299996 [GRCh38] Chr9:124062274 [GRCh37] Chr9:9q33.2 |
benign|likely benign |
NM_198252.3(GSN):c.-4C>G |
single nucleotide variant |
Finnish type amyloidosis [RCV001169575] |
Chr9:121301968 [GRCh38] Chr9:124064246 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1323del (p.Trp442fs) |
deletion |
not provided [RCV000585506] |
Chr9:121321399 [GRCh38] Chr9:124083677 [GRCh37] Chr9:9q33.2 |
likely pathogenic|uncertain significance |
NM_198252.3(GSN):c.-9-2091_-9-2064del |
deletion |
Finnish type amyloidosis [RCV003338770]|Inborn genetic diseases [RCV002424740]|not provided [RCV000723091] |
Chr9:121299869..121299896 [GRCh38] Chr9:124062147..124062174 [GRCh37] Chr9:9q33.2 |
benign|likely benign|uncertain significance |
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 |
GRCh37/hg19 9q33.2(chr9:124039419-124444887)x3 |
copy number gain |
See cases [RCV000445677] |
Chr9:124039419..124444887 [GRCh37] Chr9:9q33.2 |
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 |
NM_198252.3(GSN):c.2054C>G (p.Ala685Gly) |
single nucleotide variant |
not provided [RCV000498026] |
Chr9:121332461 [GRCh38] Chr9:124094739 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1723C>T (p.Arg575Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003280306]|not provided [RCV004775369] |
Chr9:121327443 [GRCh38] Chr9:124089721 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.227C>T (p.Ala76Val) |
single nucleotide variant |
not provided [RCV000969559]|not specified [RCV000610660] |
Chr9:121302941 [GRCh38] Chr9:124065219 [GRCh37] Chr9:9q33.2 |
benign|likely benign |
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 |
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 9q33.2(chr9:124094435-124160616)x3 |
copy number gain |
not provided [RCV000748644] |
Chr9:124094435..124160616 [GRCh37] Chr9:9q33.2 |
benign |
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_198252.3(GSN):c.1417-59A>G |
single nucleotide variant |
not provided [RCV001644155] |
Chr9:121326453 [GRCh38] Chr9:124088731 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.1417-22T>C |
single nucleotide variant |
Finnish type amyloidosis [RCV001703056]|not provided [RCV001688706] |
Chr9:121326490 [GRCh38] Chr9:124088768 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.393C>T (p.Asn131=) |
single nucleotide variant |
Finnish type amyloidosis [RCV002501499]|GSN-related disorder [RCV003975668]|not provided [RCV000895499] |
Chr9:121310725 [GRCh38] Chr9:124073003 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.-10+4458G>A |
single nucleotide variant |
not provided [RCV001693288] |
Chr9:121286020 [GRCh38] Chr9:124048298 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.1965+192G>A |
single nucleotide variant |
not provided [RCV001641942] |
Chr9:121329507 [GRCh38] Chr9:124091785 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.351+173G>A |
single nucleotide variant |
not provided [RCV001692704] |
Chr9:121303238 [GRCh38] Chr9:124065516 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.1416+108TCCA[9] |
microsatellite |
not provided [RCV001665865] |
Chr9:121324752..121324759 [GRCh38] Chr9:124087030..124087037 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.1763-34G>A |
single nucleotide variant |
Finnish type amyloidosis [RCV001702946]|not provided [RCV001655442] |
Chr9:121328857 [GRCh38] Chr9:124091135 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.197-5C>T |
single nucleotide variant |
Inborn genetic diseases [RCV002336995]|not provided [RCV000949954] |
Chr9:121302906 [GRCh38] Chr9:124065184 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.631G>C (p.Glu211Gln) |
single nucleotide variant |
not provided [RCV000903292] |
Chr9:121312456 [GRCh38] Chr9:124074734 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.786C>T (p.Ser262=) |
single nucleotide variant |
not provided [RCV000914523] |
Chr9:121317118 [GRCh38] Chr9:124079396 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.75C>G (p.Phe25Leu) |
single nucleotide variant |
not provided [RCV000880984] |
Chr9:121302046 [GRCh38] Chr9:124064324 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.156G>A (p.Leu52=) |
single nucleotide variant |
not provided [RCV000937227] |
Chr9:121302127 [GRCh38] Chr9:124064405 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1089C>T (p.Ile363=) |
single nucleotide variant |
not provided [RCV000923830] |
Chr9:121318778 [GRCh38] Chr9:124081056 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.-9-2066_-9-2060del |
deletion |
Finnish type amyloidosis [RCV000779569]|not provided [RCV001567670] |
Chr9:121299895..121299901 [GRCh38] Chr9:124062173..124062179 [GRCh37] Chr9:9q33.2 |
uncertain significance |
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_198252.3(GSN):c.1009C>T (p.Leu337=) |
single nucleotide variant |
Finnish type amyloidosis [RCV001253934]|not provided [RCV000918206] |
Chr9:121318698 [GRCh38] Chr9:124080976 [GRCh37] Chr9:9q33.2 |
benign|likely benign |
NM_198252.3(GSN):c.1443C>T (p.Pro481=) |
single nucleotide variant |
Finnish type amyloidosis [RCV001165664]|not provided [RCV000938536] |
Chr9:121326538 [GRCh38] Chr9:124088816 [GRCh37] Chr9:9q33.2 |
benign|likely benign |
NM_198252.3(GSN):c.1507G>A (p.Glu503Lys) |
single nucleotide variant |
Finnish type amyloidosis [RCV002484483]|Inborn genetic diseases [RCV002556363]|not provided [RCV001945059] |
Chr9:121326602 [GRCh38] Chr9:124088880 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.276C>T (p.Ala92=) |
single nucleotide variant |
Finnish type amyloidosis [RCV002495516]|not provided [RCV000914646] |
Chr9:121302990 [GRCh38] Chr9:124065268 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.7G>T (p.Val3Leu) |
single nucleotide variant |
Finnish type amyloidosis [RCV001165599]|Inborn genetic diseases [RCV004629473]|not provided [RCV001859065] |
Chr9:121301978 [GRCh38] Chr9:124064256 [GRCh37] Chr9:9q33.2 |
likely benign|uncertain significance |
NM_198252.3(GSN):c.*98T>A |
single nucleotide variant |
Finnish type amyloidosis [RCV001165729]|not provided [RCV004695080] |
Chr9:121332701 [GRCh38] Chr9:124094979 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.998G>T (p.Gly333Val) |
single nucleotide variant |
Finnish type amyloidosis [RCV001167767] |
Chr9:121318687 [GRCh38] Chr9:124080965 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.440T>C (p.Val147Ala) |
single nucleotide variant |
Finnish type amyloidosis [RCV001167188] |
Chr9:121310772 [GRCh38] Chr9:124073050 [GRCh37] Chr9:9q33.2 |
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_198252.3(GSN):c.1727C>G (p.Ala576Gly) |
single nucleotide variant |
Finnish type amyloidosis [RCV001167841]|GSN-related disorder [RCV003963108]|Inborn genetic diseases [RCV002411660]|not provided [RCV002067824] |
Chr9:121327447 [GRCh38] Chr9:124089725 [GRCh37] Chr9:9q33.2 |
benign|likely benign |
NM_198252.3(GSN):c.509G>C (p.Gly170Ala) |
single nucleotide variant |
Finnish type amyloidosis [RCV001167189] |
Chr9:121310841 [GRCh38] Chr9:124073119 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.886+12A>C |
single nucleotide variant |
Finnish type amyloidosis [RCV001167765]|not provided [RCV002558655] |
Chr9:121317230 [GRCh38] Chr9:124079508 [GRCh37] Chr9:9q33.2 |
likely benign|uncertain significance |
NM_198252.3(GSN):c.2060G>A (p.Arg687Gln) |
single nucleotide variant |
Finnish type amyloidosis [RCV001169718]|not provided [RCV002558691] |
Chr9:121332467 [GRCh38] Chr9:124094745 [GRCh37] Chr9:9q33.2 |
likely benign|uncertain significance |
NM_198252.3(GSN):c.*28G>A |
single nucleotide variant |
Finnish type amyloidosis [RCV001169720] |
Chr9:121332631 [GRCh38] Chr9:124094909 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.126C>T (p.Asp42=) |
single nucleotide variant |
Finnish type amyloidosis [RCV001165600]|GSN-related disorder [RCV003928765]|not provided [RCV002068006] |
Chr9:121302097 [GRCh38] Chr9:124064375 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.-9-2039G>C |
single nucleotide variant |
not provided [RCV000914522] |
Chr9:121299924 [GRCh38] Chr9:124062202 [GRCh37] Chr9:9q33.2 |
likely benign |
GRCh37/hg19 9q33.2(chr9:124034075-124096249)x3 |
copy number gain |
not provided [RCV000849621] |
Chr9:124034075..124096249 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.592del (p.Asp198fs) |
deletion |
Inborn genetic diseases [RCV003249459] |
Chr9:121312415 [GRCh38] Chr9:124074693 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1651G>A (p.Ala551Thr) |
single nucleotide variant |
Finnish type amyloidosis [RCV001167256]|not provided [RCV001873550] |
Chr9:121327371 [GRCh38] Chr9:124089649 [GRCh37] Chr9:9q33.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_198252.3(GSN):c.914A>G (p.Lys305Arg) |
single nucleotide variant |
Finnish type amyloidosis [RCV001167766] |
Chr9:121318433 [GRCh38] Chr9:124080711 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.228G>A (p.Ala76=) |
single nucleotide variant |
Finnish type amyloidosis [RCV001165601]|not provided [RCV002068007] |
Chr9:121302942 [GRCh38] Chr9:124065220 [GRCh37] Chr9:9q33.2 |
likely benign|uncertain significance |
NM_198252.3(GSN):c.231C>A (p.Ala77=) |
single nucleotide variant |
Finnish type amyloidosis [RCV001165602]|not provided [RCV003769801] |
Chr9:121302945 [GRCh38] Chr9:124065223 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.1585G>A (p.Glu529Lys) |
single nucleotide variant |
Finnish type amyloidosis [RCV001196370] |
Chr9:121326680 [GRCh38] Chr9:124088958 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-2101_-9-2095del |
deletion |
not provided [RCV003230009] |
Chr9:121299861..121299867 [GRCh38] Chr9:124062139..124062145 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-10+1155C>T |
single nucleotide variant |
not provided [RCV001648448] |
Chr9:121282717 [GRCh38] Chr9:124044995 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.-10+4288C>T |
single nucleotide variant |
not provided [RCV001668853] |
Chr9:121285850 [GRCh38] Chr9:124048128 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.753+28G>A |
single nucleotide variant |
not provided [RCV001654399] |
Chr9:121314051 [GRCh38] Chr9:124076329 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.1588-77del |
deletion |
not provided [RCV001595512] |
Chr9:121327231 [GRCh38] Chr9:124089509 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.1680C>T (p.Ser560=) |
single nucleotide variant |
Finnish type amyloidosis [RCV001167840]|not provided [RCV000909831] |
Chr9:121327400 [GRCh38] Chr9:124089678 [GRCh37] Chr9:9q33.2 |
benign|likely benign |
NM_198252.3(GSN):c.597C>T (p.Asn199=) |
single nucleotide variant |
Finnish type amyloidosis [RCV002505460]|GSN-related disorder [RCV003905921]|not provided [RCV000967138] |
Chr9:121312422 [GRCh38] Chr9:124074700 [GRCh37] Chr9:9q33.2 |
benign|likely benign |
NM_198252.3(GSN):c.699C>T (p.Thr233=) |
single nucleotide variant |
not provided [RCV000915340] |
Chr9:121313969 [GRCh38] Chr9:124076247 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.538A>G (p.Asn180Asp) |
single nucleotide variant |
Finnish type amyloidosis [RCV001167190]|not provided [RCV000961960] |
Chr9:121312363 [GRCh38] Chr9:124074641 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.1423G>T (p.Val475Leu) |
single nucleotide variant |
Finnish type amyloidosis [RCV001165663]|Inborn genetic diseases [RCV002393377]|not provided [RCV002559587] |
Chr9:121326518 [GRCh38] Chr9:124088796 [GRCh37] Chr9:9q33.2 |
benign|uncertain significance |
NM_198252.3(GSN):c.427G>A (p.Gly143Arg) |
single nucleotide variant |
Finnish type amyloidosis [RCV001167187]|Inborn genetic diseases [RCV003246740]|not provided [RCV001873548] |
Chr9:121310759 [GRCh38] Chr9:124073037 [GRCh37] Chr9:9q33.2 |
likely benign|uncertain significance |
NM_198252.3(GSN):c.1657C>G (p.Leu553Val) |
single nucleotide variant |
Finnish type amyloidosis [RCV001167257] |
Chr9:121327377 [GRCh38] Chr9:124089655 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.664-4A>G |
single nucleotide variant |
Finnish type amyloidosis [RCV001167763]|GSN-related disorder [RCV003968122]|not provided [RCV000890781] |
Chr9:121313930 [GRCh38] Chr9:124076208 [GRCh37] Chr9:9q33.2 |
benign|likely benign |
NM_198252.3(GSN):c.1850G>T (p.Arg617Leu) |
single nucleotide variant |
Finnish type amyloidosis [RCV001167842]|GSN-related disorder [RCV003930787]|not provided [RCV000890782] |
Chr9:121328978 [GRCh38] Chr9:124091256 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.663+199G>C |
single nucleotide variant |
not provided [RCV001656185] |
Chr9:121312687 [GRCh38] Chr9:124074965 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.-9-2339C>T |
single nucleotide variant |
not provided [RCV001620257] |
Chr9:121299624 [GRCh38] Chr9:124061902 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.1588-76G>T |
single nucleotide variant |
not provided [RCV001655166] |
Chr9:121327232 [GRCh38] Chr9:124089510 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.1416+108TCCA[10] |
microsatellite |
not provided [RCV001674770] |
Chr9:121324752..121324755 [GRCh38] Chr9:124087030..124087033 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.664-196G>A |
single nucleotide variant |
not provided [RCV001639245] |
Chr9:121313738 [GRCh38] Chr9:124076016 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.1192-75C>T |
single nucleotide variant |
not provided [RCV001620332] |
Chr9:121321193 [GRCh38] Chr9:124083471 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.1587+46A>G |
single nucleotide variant |
not provided [RCV001596315] |
Chr9:121326728 [GRCh38] Chr9:124089006 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.-9-2406C>T |
single nucleotide variant |
not provided [RCV001698688] |
Chr9:121299557 [GRCh38] Chr9:124061835 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.-10+4621T>C |
single nucleotide variant |
not provided [RCV001676625] |
Chr9:121286183 [GRCh38] Chr9:124048461 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.975+43G>C |
single nucleotide variant |
not provided [RCV001654626] |
Chr9:121318537 [GRCh38] Chr9:124080815 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.-9-2026C>T |
single nucleotide variant |
Finnish type amyloidosis [RCV001169573]|not provided [RCV001859097] |
Chr9:121299937 [GRCh38] Chr9:124062215 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.2045C>T (p.Thr682Met) |
single nucleotide variant |
Finnish type amyloidosis [RCV001169717]|Inborn genetic diseases [RCV002418599]|not provided [RCV002068044] |
Chr9:121332452 [GRCh38] Chr9:124094730 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.2069G>A (p.Arg690Gln) |
single nucleotide variant |
Finnish type amyloidosis [RCV001169719]|Inborn genetic diseases [RCV002559627]|not provided [RCV001859099] |
Chr9:121332476 [GRCh38] Chr9:124094754 [GRCh37] Chr9:9q33.2 |
benign|likely benign|uncertain significance |
NM_198252.3(GSN):c.547C>T (p.Arg183Trp) |
single nucleotide variant |
Finnish type amyloidosis [RCV001167762]|Inborn genetic diseases [RCV002365818]|not provided [RCV002558654] |
Chr9:121312372 [GRCh38] Chr9:124074650 [GRCh37] Chr9:9q33.2 |
benign|uncertain significance |
NM_198252.3(GSN):c.1874T>C (p.Ile625Thr) |
single nucleotide variant |
Finnish type amyloidosis [RCV001167843]|Inborn genetic diseases [RCV004978079] |
Chr9:121329002 [GRCh38] Chr9:124091280 [GRCh37] Chr9:9q33.2 |
benign|likely benign |
NM_198252.3(GSN):c.754-11C>T |
single nucleotide variant |
Finnish type amyloidosis [RCV001167764]|not provided [RCV002068028] |
Chr9:121317075 [GRCh38] Chr9:124079353 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.1547A>G (p.Gln516Arg) |
single nucleotide variant |
Finnish type amyloidosis [RCV001167255] |
Chr9:121326642 [GRCh38] Chr9:124088920 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1191+14G>A |
single nucleotide variant |
Finnish type amyloidosis [RCV001254008]|not provided [RCV002570551] |
Chr9:121318894 [GRCh38] Chr9:124081172 [GRCh37] Chr9:9q33.2 |
benign|likely benign |
NM_198252.3(GSN):c.1171G>A (p.Asp391Asn) |
single nucleotide variant |
Finnish type amyloidosis [RCV001254007]|Inborn genetic diseases [RCV002379957]|not provided [RCV001879877] |
Chr9:121318860 [GRCh38] Chr9:124081138 [GRCh37] Chr9:9q33.2 |
benign|likely benign|uncertain significance |
NM_198252.3(GSN):c.1192-1G>A |
single nucleotide variant |
Meretoja syndrome [RCV001333275] |
Chr9:121321267 [GRCh38] Chr9:124083545 [GRCh37] Chr9:9q33.2 |
pathogenic |
NM_198252.3(GSN):c.1324T>C (p.Trp442Arg) |
single nucleotide variant |
Finnish type amyloidosis [RCV001265608] |
Chr9:121321400 [GRCh38] Chr9:124083678 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1382A>G (p.Gln461Arg) |
single nucleotide variant |
not provided [RCV001908079] |
Chr9:121324610 [GRCh38] Chr9:124086888 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-1836G>T |
single nucleotide variant |
not provided [RCV001529195] |
Chr9:121300127 [GRCh38] Chr9:124062405 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.616C>T (p.Arg206Ter) |
single nucleotide variant |
Finnish type amyloidosis [RCV002488308]|not provided [RCV001508266] |
Chr9:121312441 [GRCh38] Chr9:124074719 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.663+25T>G |
single nucleotide variant |
not provided [RCV001665069] |
Chr9:121312513 [GRCh38] Chr9:124074791 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.514-197G>A |
single nucleotide variant |
not provided [RCV001534802] |
Chr9:121312142 [GRCh38] Chr9:124074420 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.-9-2278G>A |
single nucleotide variant |
not provided [RCV001653380] |
Chr9:121299685 [GRCh38] Chr9:124061963 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.2026+36T>C |
single nucleotide variant |
not provided [RCV001619472] |
Chr9:121331484 [GRCh38] Chr9:124093762 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.1192-126G>A |
single nucleotide variant |
not provided [RCV001609409] |
Chr9:121321142 [GRCh38] Chr9:124083420 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.-9-185C>G |
single nucleotide variant |
not provided [RCV001536908] |
Chr9:121301778 [GRCh38] Chr9:124064056 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.-10+4781A>G |
single nucleotide variant |
not provided [RCV001710555] |
Chr9:121286343 [GRCh38] Chr9:124048621 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.513+53T>C |
single nucleotide variant |
not provided [RCV001617410] |
Chr9:121310898 [GRCh38] Chr9:124073176 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.2027-122A>T |
single nucleotide variant |
not provided [RCV001669455] |
Chr9:121332312 [GRCh38] Chr9:124094590 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.1416+108TCCA[12] |
microsatellite |
not provided [RCV001665861] |
Chr9:121324751..121324752 [GRCh38] Chr9:124087029..124087030 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.1116C>T (p.Asp372=) |
single nucleotide variant |
not provided [RCV003108326] |
Chr9:121318805 [GRCh38] Chr9:124081083 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.997G>A (p.Gly333Ser) |
single nucleotide variant |
Finnish type amyloidosis [RCV002488485]|Inborn genetic diseases [RCV002343804]|not provided [RCV001727485] |
Chr9:121318686 [GRCh38] Chr9:124080964 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.524A>G (p.Gln175Arg) |
single nucleotide variant |
not provided [RCV001763965] |
Chr9:121312349 [GRCh38] Chr9:124074627 [GRCh37] Chr9:9q33.2 |
uncertain significance |
GRCh37/hg19 9q33.1-33.2(chr9:117853848-124633077)x1 |
copy number loss |
Delayed speech and language development [RCV001801196] |
Chr9:117853848..124633077 [GRCh37] Chr9:9q33.1-33.2 |
uncertain significance |
NM_198252.3(GSN):c.1423G>A (p.Val475Met) |
single nucleotide variant |
not provided [RCV001774580] |
Chr9:121326518 [GRCh38] Chr9:124088796 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.614C>A (p.Ala205Asp) |
single nucleotide variant |
not provided [RCV001760910] |
Chr9:121312439 [GRCh38] Chr9:124074717 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-2077G>A |
single nucleotide variant |
not provided [RCV002542665]|not specified [RCV001822607] |
Chr9:121299886 [GRCh38] Chr9:124062164 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.352-8C>A |
single nucleotide variant |
not provided [RCV005057659]|not specified [RCV001822630] |
Chr9:121310676 [GRCh38] Chr9:124072954 [GRCh37] Chr9:9q33.2 |
likely benign|uncertain significance |
NM_198252.3(GSN):c.776T>C (p.Met259Thr) |
single nucleotide variant |
Finnish type amyloidosis [RCV002507597]|not provided [RCV001929542] |
Chr9:121317108 [GRCh38] Chr9:124079386 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.565G>T (p.Ala189Ser) |
single nucleotide variant |
not provided [RCV001895705] |
Chr9:121312390 [GRCh38] Chr9:124074668 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.761A>G (p.Asn254Ser) |
single nucleotide variant |
Finnish type amyloidosis [RCV002492278]|not provided [RCV001988793] |
Chr9:121317093 [GRCh38] Chr9:124079371 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.601_602insT (p.Arg201fs) |
insertion |
Inborn genetic diseases [RCV002388991]|not provided [RCV002003791]|not specified [RCV003331262] |
Chr9:121312426..121312427 [GRCh38] Chr9:124074704..124074705 [GRCh37] Chr9:9q33.2 |
uncertain significance |
GRCh37/hg19 9q33.1-33.3(chr9:120045175-127335905)x1 |
copy number loss |
not provided [RCV001834516] |
Chr9:120045175..127335905 [GRCh37] Chr9:9q33.1-33.3 |
pathogenic |
NM_198252.3(GSN):c.2059C>T (p.Arg687Trp) |
single nucleotide variant |
Finnish type amyloidosis [RCV005050419]|not provided [RCV002041442] |
Chr9:121332466 [GRCh38] Chr9:124094744 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.2158G>A (p.Asp720Asn) |
single nucleotide variant |
not provided [RCV001928480] |
Chr9:121332565 [GRCh38] Chr9:124094843 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1275T>G (p.Ile425Met) |
single nucleotide variant |
not provided [RCV001889821] |
Chr9:121321351 [GRCh38] Chr9:124083629 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1253A>G (p.Tyr418Cys) |
single nucleotide variant |
Finnish type amyloidosis [RCV005050472]|Inborn genetic diseases [RCV003167391]|not provided [RCV001987276] |
Chr9:121321329 [GRCh38] Chr9:124083607 [GRCh37] Chr9:9q33.2 |
likely benign|uncertain significance |
NM_198252.3(GSN):c.580A>G (p.Lys194Glu) |
single nucleotide variant |
not provided [RCV002008808] |
Chr9:121312405 [GRCh38] Chr9:124074683 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.638G>A (p.Gly213Asp) |
single nucleotide variant |
Finnish type amyloidosis [RCV002479540]|Inborn genetic diseases [RCV002563422]|not provided [RCV001987444] |
Chr9:121312463 [GRCh38] Chr9:124074741 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.162C>G (p.Asn54Lys) |
single nucleotide variant |
Finnish type amyloidosis [RCV002486641]|not provided [RCV002045254] |
Chr9:121302133 [GRCh38] Chr9:124064411 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.286C>T (p.Arg96Cys) |
single nucleotide variant |
Finnish type amyloidosis [RCV005042618]|not provided [RCV001966089] |
Chr9:121303000 [GRCh38] Chr9:124065278 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.513C>T (p.Asn171=) |
single nucleotide variant |
Finnish type amyloidosis [RCV002484711]|Inborn genetic diseases [RCV002361274]|not provided [RCV001967744] |
Chr9:121310845 [GRCh38] Chr9:124073123 [GRCh37] Chr9:9q33.2 |
likely benign|uncertain significance |
NM_198252.3(GSN):c.229G>A (p.Ala77Thr) |
single nucleotide variant |
not provided [RCV001983430] |
Chr9:121302943 [GRCh38] Chr9:124065221 [GRCh37] Chr9:9q33.2 |
uncertain significance |
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 |
NM_198252.3(GSN):c.1697G>A (p.Gly566Glu) |
single nucleotide variant |
not provided [RCV001966271] |
Chr9:121327417 [GRCh38] Chr9:124089695 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-2058_-9-2047dup |
duplication |
Finnish type amyloidosis [RCV002492335]|not provided [RCV002004011] |
Chr9:121299897..121299898 [GRCh38] Chr9:124062175..124062176 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-2010C>T |
single nucleotide variant |
not provided [RCV002039763] |
Chr9:121299953 [GRCh38] Chr9:124062231 [GRCh37] Chr9:9q33.2 |
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_198252.3(GSN):c.1114G>A (p.Asp372Asn) |
single nucleotide variant |
not provided [RCV002042547] |
Chr9:121318803 [GRCh38] Chr9:124081081 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1420C>T (p.Arg474Cys) |
single nucleotide variant |
Finnish type amyloidosis [RCV002478165]|not provided [RCV001947460] |
Chr9:121326515 [GRCh38] Chr9:124088793 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-2059T>C |
single nucleotide variant |
not provided [RCV002043495] |
Chr9:121299904 [GRCh38] Chr9:124062182 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-2057_-9-2037del |
deletion |
Finnish type amyloidosis [RCV002503582]|not provided [RCV001928181] |
Chr9:121299895..121299915 [GRCh38] Chr9:124062173..124062193 [GRCh37] Chr9:9q33.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_198252.3(GSN):c.1762G>T (p.Asp588Tyr) |
single nucleotide variant |
Finnish type amyloidosis [RCV002507753]|Inborn genetic diseases [RCV002407240]|not provided [RCV002008224] |
Chr9:121327482 [GRCh38] Chr9:124089760 [GRCh37] Chr9:9q33.2 |
likely benign|uncertain significance |
NM_198252.3(GSN):c.790G>A (p.Val264Met) |
single nucleotide variant |
not provided [RCV001892943] |
Chr9:121317122 [GRCh38] Chr9:124079400 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1886T>C (p.Val629Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002422982]|not provided [RCV001911211] |
Chr9:121329014 [GRCh38] Chr9:124091292 [GRCh37] Chr9:9q33.2 |
likely benign|uncertain significance |
NM_198252.3(GSN):c.767C>G (p.Ala256Gly) |
single nucleotide variant |
not provided [RCV001945647] |
Chr9:121317099 [GRCh38] Chr9:124079377 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.480C>A (p.Asn160Lys) |
single nucleotide variant |
Finnish type amyloidosis [RCV005042601]|not provided [RCV001949252] |
Chr9:121310812 [GRCh38] Chr9:124073090 [GRCh37] Chr9:9q33.2 |
pathogenic |
NM_198252.3(GSN):c.397G>T (p.Val133Leu) |
single nucleotide variant |
Finnish type amyloidosis [RCV002490276]|Inborn genetic diseases [RCV002344024]|not provided [RCV001928371] |
Chr9:121310729 [GRCh38] Chr9:124073007 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1103G>A (p.Arg368Gln) |
single nucleotide variant |
Finnish type amyloidosis [RCV002486645]|Inborn genetic diseases [RCV002423235]|not provided [RCV002022738] |
Chr9:121318792 [GRCh38] Chr9:124081070 [GRCh37] Chr9:9q33.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_198252.3(GSN):c.709G>A (p.Ala237Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002370440]|not provided [RCV001890732] |
Chr9:121313979 [GRCh38] Chr9:124076257 [GRCh37] Chr9:9q33.2 |
likely benign|uncertain significance |
NM_198252.3(GSN):c.1049A>G (p.Gln350Arg) |
single nucleotide variant |
not provided [RCV001965512] |
Chr9:121318738 [GRCh38] Chr9:124081016 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1939G>A (p.Val647Ile) |
single nucleotide variant |
Finnish type amyloidosis [RCV002479783]|GSN-related disorder [RCV004756342]|Inborn genetic diseases [RCV002423259]|not provided [RCV002023079] |
Chr9:121329289 [GRCh38] Chr9:124091567 [GRCh37] Chr9:9q33.2 |
likely benign|uncertain significance |
NM_198252.3(GSN):c.1512C>T (p.Gly504=) |
single nucleotide variant |
Finnish type amyloidosis [RCV005050435]|not provided [RCV001911989] |
Chr9:121326607 [GRCh38] Chr9:124088885 [GRCh37] Chr9:9q33.2 |
likely benign|uncertain significance |
NM_198252.3(GSN):c.434G>A (p.Arg145His) |
single nucleotide variant |
Finnish type amyloidosis [RCV005042567]|Inborn genetic diseases [RCV002352623]|not provided [RCV001967735] |
Chr9:121310766 [GRCh38] Chr9:124073044 [GRCh37] Chr9:9q33.2 |
likely benign|uncertain significance |
GRCh37/hg19 9q32-34.11(chr9:116422275-131713233) |
copy number gain |
not specified [RCV002052831] |
Chr9:116422275..131713233 [GRCh37] Chr9:9q32-34.11 |
pathogenic |
NM_198252.3(GSN):c.1506C>T (p.Arg502=) |
single nucleotide variant |
Finnish type amyloidosis [RCV002482400]|GSN-related disorder [RCV003911048]|not provided [RCV002041380] |
Chr9:121326601 [GRCh38] Chr9:124088879 [GRCh37] Chr9:9q33.2 |
likely benign|uncertain significance |
NM_198252.3(GSN):c.-9-1983C>T |
single nucleotide variant |
Inborn genetic diseases [RCV002344050]|not provided [RCV001943858] |
Chr9:121299980 [GRCh38] Chr9:124062258 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.454G>T (p.Val152Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003289404]|not provided [RCV002030923] |
Chr9:121310786 [GRCh38] Chr9:124073064 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.692C>T (p.Ala231Val) |
single nucleotide variant |
Finnish type amyloidosis [RCV002489956]|not provided [RCV001887712] |
Chr9:121313962 [GRCh38] Chr9:124076240 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.513+1G>A |
single nucleotide variant |
Finnish type amyloidosis [RCV002490025]|not provided [RCV001942763] |
Chr9:121310846 [GRCh38] Chr9:124073124 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1444G>A (p.Ala482Thr) |
single nucleotide variant |
Finnish type amyloidosis [RCV002490026]|Inborn genetic diseases [RCV002397804]|not provided [RCV001942791] |
Chr9:121326539 [GRCh38] Chr9:124088817 [GRCh37] Chr9:9q33.2 |
likely benign|uncertain significance |
NM_198252.3(GSN):c.76G>A (p.Asp26Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002563451]|not provided [RCV001992678] |
Chr9:121302047 [GRCh38] Chr9:124064325 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-2046G>A |
single nucleotide variant |
not provided [RCV001905531] |
Chr9:121299917 [GRCh38] Chr9:124062195 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1915C>T (p.Gln639Ter) |
single nucleotide variant |
Finnish type amyloidosis [RCV002506867]|not provided [RCV002037191] |
Chr9:121329265 [GRCh38] Chr9:124091543 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.272G>A (p.Arg91Gln) |
single nucleotide variant |
Finnish type amyloidosis [RCV002492369]|Inborn genetic diseases [RCV002331624]|not provided [RCV002026059] |
Chr9:121302986 [GRCh38] Chr9:124065264 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-2G>A |
single nucleotide variant |
not provided [RCV001975999] |
Chr9:121301970 [GRCh38] Chr9:124064248 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.856G>A (p.Gly286Ser) |
single nucleotide variant |
Finnish type amyloidosis [RCV002492322]|Inborn genetic diseases [RCV002657672]|not provided [RCV002020059] |
Chr9:121317188 [GRCh38] Chr9:124079466 [GRCh37] Chr9:9q33.2 |
likely benign|uncertain significance |
NM_198252.3(GSN):c.1996GAA[2] (p.Glu668del) |
microsatellite |
Finnish type amyloidosis [RCV005042652]|not provided [RCV002009951] |
Chr9:121331416..121331418 [GRCh38] Chr9:124093694..124093696 [GRCh37] Chr9:9q33.2 |
likely benign|uncertain significance |
NM_198252.3(GSN):c.397G>A (p.Val133Met) |
single nucleotide variant |
Finnish type amyloidosis [RCV002490214]|Inborn genetic diseases [RCV002343999]|not provided [RCV001898733] |
Chr9:121310729 [GRCh38] Chr9:124073007 [GRCh37] Chr9:9q33.2 |
likely benign|uncertain significance |
NM_198252.3(GSN):c.-9-1990G>T |
single nucleotide variant |
not provided [RCV001990846] |
Chr9:121299973 [GRCh38] Chr9:124062251 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.18del (p.Glu7fs) |
deletion |
Inborn genetic diseases [RCV002406935]|not provided [RCV001867173] |
Chr9:121301986 [GRCh38] Chr9:124064264 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1879C>T (p.Arg627Cys) |
single nucleotide variant |
not provided [RCV002014358] |
Chr9:121329007 [GRCh38] Chr9:124091285 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.235A>C (p.Ile79Leu) |
single nucleotide variant |
Finnish type amyloidosis [RCV002479827]|Inborn genetic diseases [RCV002361416]|not provided [RCV002031488] |
Chr9:121302949 [GRCh38] Chr9:124065227 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.244G>A (p.Val82Met) |
single nucleotide variant |
not provided [RCV001870575] |
Chr9:121302958 [GRCh38] Chr9:124065236 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.2041G>A (p.Glu681Lys) |
single nucleotide variant |
Finnish type amyloidosis [RCV002482462]|Inborn genetic diseases [RCV002425114]|not provided [RCV001876394] |
Chr9:121332448 [GRCh38] Chr9:124094726 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.382G>C (p.Val128Leu) |
single nucleotide variant |
not provided [RCV001877993] |
Chr9:121310714 [GRCh38] Chr9:124072992 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1888-4C>G |
single nucleotide variant |
not provided [RCV001994603] |
Chr9:121329234 [GRCh38] Chr9:124091512 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1417A>G (p.Ser473Gly) |
single nucleotide variant |
Finnish type amyloidosis [RCV002482455]|not provided [RCV001866446] |
Chr9:121326512 [GRCh38] Chr9:124088790 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-1999_-9-1985del |
deletion |
Finnish type amyloidosis [RCV002478132]|Inborn genetic diseases [RCV002386611]|not provided [RCV001904078] |
Chr9:121299957..121299971 [GRCh38] Chr9:124062235..124062249 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.811G>A (p.Ala271Thr) |
single nucleotide variant |
Finnish type amyloidosis [RCV002482686]|not provided [RCV001875508] |
Chr9:121317143 [GRCh38] Chr9:124079421 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.804C>A (p.Asn268Lys) |
single nucleotide variant |
not provided [RCV001934608] |
Chr9:121317136 [GRCh38] Chr9:124079414 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1325+4A>G |
single nucleotide variant |
not provided [RCV001900159] |
Chr9:121321405 [GRCh38] Chr9:124083683 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-2079_-9-2035del |
deletion |
Inborn genetic diseases [RCV002425119]|not provided [RCV001870103] |
Chr9:121299881..121299925 [GRCh38] Chr9:124062159..124062203 [GRCh37] Chr9:9q33.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_198252.3(GSN):c.1240T>C (p.Tyr414His) |
single nucleotide variant |
not provided [RCV001955303] |
Chr9:121321316 [GRCh38] Chr9:124083594 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.827A>G (p.Lys276Arg) |
single nucleotide variant |
not provided [RCV002026687] |
Chr9:121317159 [GRCh38] Chr9:124079437 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.743A>T (p.Lys248Met) |
single nucleotide variant |
not provided [RCV001978441] |
Chr9:121314013 [GRCh38] Chr9:124076291 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1441C>A (p.Pro481Thr) |
single nucleotide variant |
Finnish type amyloidosis [RCV002503578]|not provided [RCV001923231] |
Chr9:121326536 [GRCh38] Chr9:124088814 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-2057_-9-2037dup |
duplication |
Finnish type amyloidosis [RCV002497842]|Inborn genetic diseases [RCV002331512]|not provided [RCV001958440] |
Chr9:121299894..121299895 [GRCh38] Chr9:124062172..124062173 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.2137del (p.Asp713fs) |
deletion |
Finnish type amyloidosis [RCV002490081]|not provided [RCV001883190] |
Chr9:121332542 [GRCh38] Chr9:124094820 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1300C>T (p.Arg434Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003264216]|not provided [RCV001935008] |
Chr9:121321376 [GRCh38] Chr9:124083654 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.602G>A (p.Arg201Gln) |
single nucleotide variant |
Finnish type amyloidosis [RCV002492348]|not provided [RCV002016213] |
Chr9:121312427 [GRCh38] Chr9:124074705 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.2065C>T (p.Arg689Trp) |
single nucleotide variant |
Finnish type amyloidosis [RCV002492055]|Inborn genetic diseases [RCV004975952]|not provided [RCV001960334] |
Chr9:121332472 [GRCh38] Chr9:124094750 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.700G>A (p.Glu234Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002449566]|not provided [RCV001906993] |
Chr9:121313970 [GRCh38] Chr9:124076248 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1295G>C (p.Gly432Ala) |
single nucleotide variant |
not provided [RCV001951960] |
Chr9:121321371 [GRCh38] Chr9:124083649 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1662G>A (p.Trp554Ter) |
single nucleotide variant |
Finnish type amyloidosis [RCV005042667]|not provided [RCV002033781] |
Chr9:121327382 [GRCh38] Chr9:124089660 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1690A>G (p.Lys564Glu) |
single nucleotide variant |
Finnish type amyloidosis [RCV002479644]|not provided [RCV002018941] |
Chr9:121327410 [GRCh38] Chr9:124089688 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1850G>A (p.Arg617His) |
single nucleotide variant |
Finnish type amyloidosis [RCV002484621]|not provided [RCV001931420] |
Chr9:121328978 [GRCh38] Chr9:124091256 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.62G>A (p.Arg21His) |
single nucleotide variant |
Inborn genetic diseases [RCV002425206]|not provided [RCV001918113] |
Chr9:121302033 [GRCh38] Chr9:124064311 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1870A>G (p.Lys624Glu) |
single nucleotide variant |
Finnish type amyloidosis [RCV002484788]|not provided [RCV001990094]|not specified [RCV003226508] |
Chr9:121328998 [GRCh38] Chr9:124091276 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.731G>A (p.Arg244His) |
single nucleotide variant |
not provided [RCV002015445] |
Chr9:121314001 [GRCh38] Chr9:124076279 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1204G>A (p.Glu402Lys) |
single nucleotide variant |
Finnish type amyloidosis [RCV002489911]|Inborn genetic diseases [RCV002386588]|not provided [RCV002029848] |
Chr9:121321280 [GRCh38] Chr9:124083558 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.2032C>T (p.Arg678Trp) |
single nucleotide variant |
Finnish type amyloidosis [RCV005042503]|Inborn genetic diseases [RCV002425224]|not provided [RCV001918388] |
Chr9:121332439 [GRCh38] Chr9:124094717 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1576C>T (p.Arg526Trp) |
single nucleotide variant |
Finnish type amyloidosis [RCV002490171]|not provided [RCV001903197] |
Chr9:121326671 [GRCh38] Chr9:124088949 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1191+5G>A |
single nucleotide variant |
not provided [RCV002017346] |
Chr9:121318885 [GRCh38] Chr9:124081163 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.417C>G (p.Phe139Leu) |
single nucleotide variant |
not provided [RCV001897326] |
Chr9:121310749 [GRCh38] Chr9:124073027 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.394G>A (p.Glu132Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002675471]|not provided [RCV002029147] |
Chr9:121310726 [GRCh38] Chr9:124073004 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.352-10G>C |
single nucleotide variant |
not provided [RCV001880815] |
Chr9:121310674 [GRCh38] Chr9:124072952 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1190A>G (p.Gln397Arg) |
single nucleotide variant |
Finnish type amyloidosis [RCV002484769]|Inborn genetic diseases [RCV002386803]|not provided [RCV001996958] |
Chr9:121318879 [GRCh38] Chr9:124081157 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1880G>A (p.Arg627His) |
single nucleotide variant |
Finnish type amyloidosis [RCV002492401]|Inborn genetic diseases [RCV002423285]|not provided [RCV002031375] |
Chr9:121329008 [GRCh38] Chr9:124091286 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.484G>A (p.Gly162Ser) |
single nucleotide variant |
Finnish type amyloidosis [RCV002492099]|not provided [RCV001989851] |
Chr9:121310816 [GRCh38] Chr9:124073094 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1538G>A (p.Arg513His) |
single nucleotide variant |
Finnish type amyloidosis [RCV002484617]|Inborn genetic diseases [RCV002397935]|not provided [RCV001938852] |
Chr9:121326633 [GRCh38] Chr9:124088911 [GRCh37] Chr9:9q33.2 |
likely benign|uncertain significance |
NM_198252.3(GSN):c.1534A>C (p.Thr512Pro) |
single nucleotide variant |
not provided [RCV001998838] |
Chr9:121326629 [GRCh38] Chr9:124088907 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1004C>G (p.Thr335Ser) |
single nucleotide variant |
not provided [RCV001905521] |
Chr9:121318693 [GRCh38] Chr9:124080971 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1546del (p.Gln516fs) |
deletion |
not provided [RCV001924684] |
Chr9:121326640 [GRCh38] Chr9:124088918 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1763-7C>G |
single nucleotide variant |
Finnish type amyloidosis [RCV005042499]|not provided [RCV001915717] |
Chr9:121328884 [GRCh38] Chr9:124091162 [GRCh37] Chr9:9q33.2 |
likely benign|uncertain significance |
NM_198252.3(GSN):c.1814G>A (p.Arg605Gln) |
single nucleotide variant |
GSN-related disorder [RCV004756321]|not provided [RCV001955479] |
Chr9:121328942 [GRCh38] Chr9:124091220 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1283A>G (p.Asn428Ser) |
single nucleotide variant |
not provided [RCV002033041] |
Chr9:121321359 [GRCh38] Chr9:124083637 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.581A>G (p.Lys194Arg) |
single nucleotide variant |
not provided [RCV001879086] |
Chr9:121312406 [GRCh38] Chr9:124074684 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.322G>A (p.Gly108Ser) |
single nucleotide variant |
Finnish type amyloidosis [RCV002484901]|not provided [RCV001973981] |
Chr9:121303036 [GRCh38] Chr9:124065314 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1054G>C (p.Asp352His) |
single nucleotide variant |
not provided [RCV001991883] |
Chr9:121318743 [GRCh38] Chr9:124081021 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-1987G>A |
single nucleotide variant |
Finnish type amyloidosis [RCV005040425]|Inborn genetic diseases [RCV002370371]|not provided [RCV001880307] |
Chr9:121299976 [GRCh38] Chr9:124062254 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.722C>T (p.Ala241Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002370464]|not provided [RCV001898475] |
Chr9:121313992 [GRCh38] Chr9:124076270 [GRCh37] Chr9:9q33.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_198252.3(GSN):c.1096G>A (p.Val366Met) |
single nucleotide variant |
Finnish type amyloidosis [RCV002482682]|Inborn genetic diseases [RCV002397844]|not provided [RCV001881581] |
Chr9:121318785 [GRCh38] Chr9:124081063 [GRCh37] Chr9:9q33.2 |
likely benign|uncertain significance |
NM_198252.3(GSN):c.1310A>G (p.Gln437Arg) |
single nucleotide variant |
not provided [RCV001977814] |
Chr9:121321386 [GRCh38] Chr9:124083664 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.754-1G>T |
single nucleotide variant |
Finnish type amyloidosis [RCV005050474]|not provided [RCV001955959] |
Chr9:121317085 [GRCh38] Chr9:124079363 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.989C>T (p.Pro330Leu) |
single nucleotide variant |
Finnish type amyloidosis [RCV002490071]|not provided [RCV001900247] |
Chr9:121318678 [GRCh38] Chr9:124080956 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-2043C>G |
single nucleotide variant |
Finnish type amyloidosis [RCV002482426]|not provided [RCV002050998] |
Chr9:121299920 [GRCh38] Chr9:124062198 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1366_1369dup (p.Ile457fs) |
duplication |
not provided [RCV002047467] |
Chr9:121324593..121324594 [GRCh38] Chr9:124086871..124086872 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.753+1G>A |
single nucleotide variant |
Finnish type amyloidosis [RCV002489927]|Inborn genetic diseases [RCV002370360]|not provided [RCV002051081]|not specified [RCV002307768] |
Chr9:121314024 [GRCh38] Chr9:124076302 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1515G>A (p.Gly505=) |
single nucleotide variant |
not provided [RCV002108419] |
Chr9:121326610 [GRCh38] Chr9:124088888 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.197-20A>G |
single nucleotide variant |
not provided [RCV002127544] |
Chr9:121302891 [GRCh38] Chr9:124065169 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.75C>T (p.Phe25=) |
single nucleotide variant |
not provided [RCV002204993] |
Chr9:121302046 [GRCh38] Chr9:124064324 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.886+10A>G |
single nucleotide variant |
Finnish type amyloidosis [RCV002498180]|not provided [RCV002189876] |
Chr9:121317228 [GRCh38] Chr9:124079506 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.-7C>G |
single nucleotide variant |
not provided [RCV002210065] |
Chr9:121301965 [GRCh38] Chr9:124064243 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.285C>T (p.His95=) |
single nucleotide variant |
Finnish type amyloidosis [RCV002500097]|not provided [RCV002147871] |
Chr9:121302999 [GRCh38] Chr9:124065277 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1416+16C>T |
single nucleotide variant |
Finnish type amyloidosis [RCV002494264]|not provided [RCV002129502] |
Chr9:121324660 [GRCh38] Chr9:124086938 [GRCh37] Chr9:9q33.2 |
benign|likely benign |
NM_198252.3(GSN):c.886+19G>T |
single nucleotide variant |
Finnish type amyloidosis [RCV002498176]|not provided [RCV002187546] |
Chr9:121317237 [GRCh38] Chr9:124079515 [GRCh37] Chr9:9q33.2 |
benign|likely benign |
NM_198252.3(GSN):c.303C>T (p.Phe101=) |
single nucleotide variant |
Finnish type amyloidosis [RCV002500155]|not provided [RCV002108823] |
Chr9:121303017 [GRCh38] Chr9:124065295 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1637A>G (p.Lys546Arg) |
single nucleotide variant |
Finnish type amyloidosis [RCV002498155]|not provided [RCV002186915] |
Chr9:121327357 [GRCh38] Chr9:124089635 [GRCh37] Chr9:9q33.2 |
benign|likely benign |
NM_198252.3(GSN):c.754-8C>T |
single nucleotide variant |
Finnish type amyloidosis [RCV002507885]|not provided [RCV002189706] |
Chr9:121317078 [GRCh38] Chr9:124079356 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.132C>T (p.Tyr44=) |
single nucleotide variant |
not provided [RCV002108410] |
Chr9:121302103 [GRCh38] Chr9:124064381 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.887-18T>A |
single nucleotide variant |
not provided [RCV002126180] |
Chr9:121318388 [GRCh38] Chr9:124080666 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.754-10del |
deletion |
not provided [RCV002167661] |
Chr9:121317076 [GRCh38] Chr9:124079354 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1572C>T (p.Ala524=) |
single nucleotide variant |
not provided [RCV002167742] |
Chr9:121326667 [GRCh38] Chr9:124088945 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.2082C>T (p.Thr694=) |
single nucleotide variant |
Finnish type amyloidosis [RCV002507930]|not provided [RCV002073604] |
Chr9:121332489 [GRCh38] Chr9:124094767 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.-9-1991G>A |
single nucleotide variant |
not provided [RCV002076546] |
Chr9:121299972 [GRCh38] Chr9:124062250 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.352-15T>G |
single nucleotide variant |
not provided [RCV002080306] |
Chr9:121310669 [GRCh38] Chr9:124072947 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1665G>A (p.Val555=) |
single nucleotide variant |
not provided [RCV002091345] |
Chr9:121327385 [GRCh38] Chr9:124089663 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1577G>T (p.Arg526Leu) |
single nucleotide variant |
not provided [RCV002193047] |
Chr9:121326672 [GRCh38] Chr9:124088950 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1762+20del |
deletion |
Finnish type amyloidosis [RCV002494336]|not provided [RCV002079210] |
Chr9:121327497 [GRCh38] Chr9:124089775 [GRCh37] Chr9:9q33.2 |
benign|likely benign |
NM_198252.3(GSN):c.351+16C>T |
single nucleotide variant |
not provided [RCV002169683] |
Chr9:121303081 [GRCh38] Chr9:124065359 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1338G>A (p.Gln446=) |
single nucleotide variant |
not provided [RCV002171642] |
Chr9:121324566 [GRCh38] Chr9:124086844 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1763-8C>T |
single nucleotide variant |
not provided [RCV002078162] |
Chr9:121328883 [GRCh38] Chr9:124091161 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1762+11G>A |
single nucleotide variant |
not provided [RCV002115774] |
Chr9:121327493 [GRCh38] Chr9:124089771 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.1485C>T (p.Ile495=) |
single nucleotide variant |
Finnish type amyloidosis [RCV002494238]|GSN-related disorder [RCV003958699]|not provided [RCV002105644]|not specified [RCV003151386] |
Chr9:121326580 [GRCh38] Chr9:124088858 [GRCh37] Chr9:9q33.2 |
benign|likely benign |
NM_198252.3(GSN):c.186C>T (p.His62=) |
single nucleotide variant |
Finnish type amyloidosis [RCV002500085]|not provided [RCV002152275] |
Chr9:121302157 [GRCh38] Chr9:124064435 [GRCh37] Chr9:9q33.2 |
benign|likely benign |
NM_198252.3(GSN):c.1416+14A>G |
single nucleotide variant |
not provided [RCV002133738] |
Chr9:121324658 [GRCh38] Chr9:124086936 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.947C>A (p.Thr316Asn) |
single nucleotide variant |
GSN-related disorder [RCV004756359]|Inborn genetic diseases [RCV004045773]|not provided [RCV002097470] |
Chr9:121318466 [GRCh38] Chr9:124080744 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.18C>T (p.Pro6=) |
single nucleotide variant |
not provided [RCV002191019] |
Chr9:121301989 [GRCh38] Chr9:124064267 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.876T>C (p.Phe292=) |
single nucleotide variant |
not provided [RCV002187020] |
Chr9:121317208 [GRCh38] Chr9:124079486 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.431G>A (p.Arg144Gln) |
single nucleotide variant |
Finnish type amyloidosis [RCV002507872]|Inborn genetic diseases [RCV002352789]|not provided [RCV002170312] |
Chr9:121310763 [GRCh38] Chr9:124073041 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1417-20C>T |
single nucleotide variant |
not provided [RCV002193099] |
Chr9:121326492 [GRCh38] Chr9:124088770 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.15C>T (p.His5=) |
single nucleotide variant |
not provided [RCV002194721] |
Chr9:121301986 [GRCh38] Chr9:124064264 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.450C>T (p.Thr150=) |
single nucleotide variant |
not provided [RCV002191453] |
Chr9:121310782 [GRCh38] Chr9:124073060 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.231C>T (p.Ala77=) |
single nucleotide variant |
not provided [RCV002115607] |
Chr9:121302945 [GRCh38] Chr9:124065223 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.-9-2009G>A |
single nucleotide variant |
not provided [RCV002079616] |
Chr9:121299954 [GRCh38] Chr9:124062232 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1588-5C>T |
single nucleotide variant |
Finnish type amyloidosis [RCV005042736]|Inborn genetic diseases [RCV004046434]|not provided [RCV002076588] |
Chr9:121327303 [GRCh38] Chr9:124089581 [GRCh37] Chr9:9q33.2 |
likely benign|uncertain significance |
NM_198252.3(GSN):c.886+19G>A |
single nucleotide variant |
Finnish type amyloidosis [RCV002505866]|not provided [RCV002189025] |
Chr9:121317237 [GRCh38] Chr9:124079515 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.2026+23del |
deletion |
not provided [RCV002080545] |
Chr9:121331467 [GRCh38] Chr9:124093745 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.2026+19G>A |
single nucleotide variant |
not provided [RCV002210687] |
Chr9:121331467 [GRCh38] Chr9:124093745 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.127G>T (p.Ala43Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002441243]|not provided [RCV002077959] |
Chr9:121302098 [GRCh38] Chr9:124064376 [GRCh37] Chr9:9q33.2 |
benign|likely benign |
NM_198252.3(GSN):c.681G>A (p.Pro227=) |
single nucleotide variant |
not provided [RCV002152590] |
Chr9:121313951 [GRCh38] Chr9:124076229 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.886+17A>G |
single nucleotide variant |
not provided [RCV002207518] |
Chr9:121317235 [GRCh38] Chr9:124079513 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1762+19G>A |
single nucleotide variant |
Finnish type amyloidosis [RCV002500259]|not provided [RCV002134067] |
Chr9:121327501 [GRCh38] Chr9:124089779 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.-9-2000G>T |
single nucleotide variant |
not provided [RCV002116142]|not specified [RCV003151387] |
Chr9:121299963 [GRCh38] Chr9:124062241 [GRCh37] Chr9:9q33.2 |
benign|likely benign |
NM_198252.3(GSN):c.90G>T (p.Val30=) |
single nucleotide variant |
not provided [RCV002077394] |
Chr9:121302061 [GRCh38] Chr9:124064339 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.663+16G>A |
single nucleotide variant |
not provided [RCV002179023] |
Chr9:121312504 [GRCh38] Chr9:124074782 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1763-7C>T |
single nucleotide variant |
not provided [RCV002175427] |
Chr9:121328884 [GRCh38] Chr9:124091162 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.489C>T (p.Asp163=) |
single nucleotide variant |
Finnish type amyloidosis [RCV005042716]|not provided [RCV002197969] |
Chr9:121310821 [GRCh38] Chr9:124073099 [GRCh37] Chr9:9q33.2 |
likely benign|uncertain significance |
NM_198252.3(GSN):c.886+11C>T |
single nucleotide variant |
not provided [RCV002177331] |
Chr9:121317229 [GRCh38] Chr9:124079507 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.654G>C (p.Ala218=) |
single nucleotide variant |
not provided [RCV002202016] |
Chr9:121312479 [GRCh38] Chr9:124074757 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1101G>A (p.Glu367=) |
single nucleotide variant |
not provided [RCV002100554] |
Chr9:121318790 [GRCh38] Chr9:124081068 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.624C>T (p.His208=) |
single nucleotide variant |
not provided [RCV002140025] |
Chr9:121312449 [GRCh38] Chr9:124074727 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.177T>C (p.Tyr59=) |
single nucleotide variant |
not provided [RCV002176387] |
Chr9:121302148 [GRCh38] Chr9:124064426 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.-9-1944G>A |
single nucleotide variant |
not provided [RCV002182076] |
Chr9:121300019 [GRCh38] Chr9:124062297 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1191+7T>C |
single nucleotide variant |
not provided [RCV002202464] |
Chr9:121318887 [GRCh38] Chr9:124081165 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.-9-2012G>A |
single nucleotide variant |
not provided [RCV002200772] |
Chr9:121299951 [GRCh38] Chr9:124062229 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1325+14G>A |
single nucleotide variant |
Finnish type amyloidosis [RCV002505811]|not provided [RCV002138777] |
Chr9:121321415 [GRCh38] Chr9:124083693 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.27C>T (p.Leu9=) |
single nucleotide variant |
not provided [RCV002176912] |
Chr9:121301998 [GRCh38] Chr9:124064276 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1416+17G>A |
single nucleotide variant |
Finnish type amyloidosis [RCV002500442]|not provided [RCV002204324] |
Chr9:121324661 [GRCh38] Chr9:124086939 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.-9-1943G>A |
single nucleotide variant |
Finnish type amyloidosis [RCV002486976]|not provided [RCV002163829] |
Chr9:121300020 [GRCh38] Chr9:124062298 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1965+13C>A |
single nucleotide variant |
not provided [RCV002164022] |
Chr9:121329328 [GRCh38] Chr9:124091606 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.654G>A (p.Ala218=) |
single nucleotide variant |
not provided [RCV002164293] |
Chr9:121312479 [GRCh38] Chr9:124074757 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.180C>T (p.Asp60=) |
single nucleotide variant |
not provided [RCV002203051] |
Chr9:121302151 [GRCh38] Chr9:124064429 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.513+19T>C |
single nucleotide variant |
Finnish type amyloidosis [RCV002507981]|not provided [RCV002119578] |
Chr9:121310864 [GRCh38] Chr9:124073142 [GRCh37] Chr9:9q33.2 |
benign|likely benign |
NM_198252.3(GSN):c.-9-1942G>A |
single nucleotide variant |
Finnish type amyloidosis [RCV002486911]|not provided [RCV002137422] |
Chr9:121300021 [GRCh38] Chr9:124062299 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.-9-1951G>T |
single nucleotide variant |
Finnish type amyloidosis [RCV002500080]|not provided [RCV002137425] |
Chr9:121300012 [GRCh38] Chr9:124062290 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.-7C>T |
single nucleotide variant |
not provided [RCV002081743] |
Chr9:121301965 [GRCh38] Chr9:124064243 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1888-12G>A |
single nucleotide variant |
not provided [RCV002102256] |
Chr9:121329226 [GRCh38] Chr9:124091504 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.197-7C>T |
single nucleotide variant |
GSN-related disorder [RCV003958794]|not provided [RCV002139627] |
Chr9:121302904 [GRCh38] Chr9:124065182 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.741C>T (p.Ala247=) |
single nucleotide variant |
Finnish type amyloidosis [RCV002494259]|not provided [RCV002120149] |
Chr9:121314011 [GRCh38] Chr9:124076289 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.-9-14C>G |
single nucleotide variant |
not provided [RCV002138047] |
Chr9:121301949 [GRCh38] Chr9:124064227 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1158C>T (p.His386=) |
single nucleotide variant |
not provided [RCV002104108] |
Chr9:121318847 [GRCh38] Chr9:124081125 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.-9-2084C>G |
single nucleotide variant |
not provided [RCV002162192] |
Chr9:121299879 [GRCh38] Chr9:124062157 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.267C>T (p.Asn89=) |
single nucleotide variant |
not provided [RCV002177397] |
Chr9:121302981 [GRCh38] Chr9:124065259 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.2040C>T (p.Ile680=) |
single nucleotide variant |
Finnish type amyloidosis [RCV002498328]|GSN-related disorder [RCV003933387]|not provided [RCV002100031] |
Chr9:121332447 [GRCh38] Chr9:124094725 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1044A>G (p.Pro348=) |
single nucleotide variant |
not provided [RCV002161842] |
Chr9:121318733 [GRCh38] Chr9:124081011 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1887+11G>T |
single nucleotide variant |
Finnish type amyloidosis [RCV002486856]|not provided [RCV002083763] |
Chr9:121329026 [GRCh38] Chr9:124091304 [GRCh37] Chr9:9q33.2 |
benign|likely benign |
NM_198252.3(GSN):c.1932G>A (p.Thr644=) |
single nucleotide variant |
Finnish type amyloidosis [RCV002508017]|not provided [RCV002117891] |
Chr9:121329282 [GRCh38] Chr9:124091560 [GRCh37] Chr9:9q33.2 |
benign|likely benign |
NM_198252.3(GSN):c.197-4G>A |
single nucleotide variant |
Finnish type amyloidosis [RCV002498121]|GSN-related disorder [RCV004756349]|Inborn genetic diseases [RCV002337185]|not provided [RCV002162160] |
Chr9:121302907 [GRCh38] Chr9:124065185 [GRCh37] Chr9:9q33.2 |
benign|likely benign |
NM_198252.3(GSN):c.1762+19_1762+20del |
deletion |
not provided [RCV002175748] |
Chr9:121327497..121327498 [GRCh38] Chr9:124089775..124089776 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1650C>T (p.Ala550=) |
single nucleotide variant |
not provided [RCV002178037] |
Chr9:121327370 [GRCh38] Chr9:124089648 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.-9-2084C>T |
single nucleotide variant |
not provided [RCV002198863] |
Chr9:121299879 [GRCh38] Chr9:124062157 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1763-10C>T |
single nucleotide variant |
Finnish type amyloidosis [RCV002500139]|not provided [RCV002099253] |
Chr9:121328881 [GRCh38] Chr9:124091159 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.420G>A (p.Gln140=) |
single nucleotide variant |
not provided [RCV002142536] |
Chr9:121310752 [GRCh38] Chr9:124073030 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.2159A>C (p.Asp720Ala) |
single nucleotide variant |
not provided [RCV003110507] |
Chr9:121332566 [GRCh38] Chr9:124094844 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.241A>G (p.Thr81Ala) |
single nucleotide variant |
Finnish type amyloidosis [RCV005051265]|not provided [RCV003116841] |
Chr9:121302955 [GRCh38] Chr9:124065233 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.171G>A (p.Leu57=) |
single nucleotide variant |
not provided [RCV003115269] |
Chr9:121302142 [GRCh38] Chr9:124064420 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1811C>T (p.Pro604Leu) |
single nucleotide variant |
not provided [RCV003114919] |
Chr9:121328939 [GRCh38] Chr9:124091217 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NC_000009.11:g.(?_124062140)_(124091613_?)del |
deletion |
not provided [RCV003122131] |
Chr9:124062140..124091613 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.514-126G>A |
single nucleotide variant |
not provided [RCV002263513] |
Chr9:121312213 [GRCh38] Chr9:124074491 [GRCh37] Chr9:9q33.2 |
benign|likely benign |
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 |
NM_198252.3(GSN):c.590G>A (p.Arg197Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002385066]|not provided [RCV003099637] |
Chr9:121312415 [GRCh38] Chr9:124074693 [GRCh37] Chr9:9q33.2 |
likely benign|uncertain significance |
NM_198252.3(GSN):c.820G>A (p.Ala274Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002387077] |
Chr9:121317152 [GRCh38] Chr9:124079430 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1180G>A (p.Gly394Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002387545]|not provided [RCV003094982] |
Chr9:121318869 [GRCh38] Chr9:124081147 [GRCh37] Chr9:9q33.2 |
likely benign|uncertain significance |
NM_198252.3(GSN):c.1802G>A (p.Arg601His) |
single nucleotide variant |
Finnish type amyloidosis [RCV005042829]|Inborn genetic diseases [RCV002421605]|not provided [RCV003100957] |
Chr9:121328930 [GRCh38] Chr9:124091208 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1159G>A (p.Gly387Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002385484]|not provided [RCV003774253] |
Chr9:121318848 [GRCh38] Chr9:124081126 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1160del (p.Gly387fs) |
deletion |
Inborn genetic diseases [RCV002385505]|not provided [RCV003094956] |
Chr9:121318848 [GRCh38] Chr9:124081126 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.589C>T (p.Arg197Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002385012]|not provided [RCV003103399] |
Chr9:121312414 [GRCh38] Chr9:124074692 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1267T>C (p.Tyr423His) |
single nucleotide variant |
Finnish type amyloidosis [RCV003138161] |
Chr9:121321343 [GRCh38] Chr9:124083621 [GRCh37] Chr9:9q33.2 |
pathogenic |
GRCh37/hg19 9q33.2(chr9:124024959-124157971)x1 |
copy number loss |
not provided [RCV002473549] |
Chr9:124024959..124157971 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1711C>G (p.Leu571Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002414969] |
Chr9:121327431 [GRCh38] Chr9:124089709 [GRCh37] Chr9:9q33.2 |
uncertain significance |
GRCh37/hg19 9q33.2-33.3(chr9:124018736-129995568)x1 |
copy number loss |
not provided [RCV002474540] |
Chr9:124018736..129995568 [GRCh37] Chr9:9q33.2-33.3 |
pathogenic |
NM_198252.3(GSN):c.1965+4G>A |
single nucleotide variant |
Inborn genetic diseases [RCV002417565] |
Chr9:121329319 [GRCh38] Chr9:124091597 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1786G>A (p.Gly596Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002413142]|not provided [RCV003100947] |
Chr9:121328914 [GRCh38] Chr9:124091192 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.548G>C (p.Arg183Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002364864] |
Chr9:121312373 [GRCh38] Chr9:124074651 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.617G>A (p.Arg206Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002400635]|not provided [RCV003099725] |
Chr9:121312442 [GRCh38] Chr9:124074720 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-2088G>T |
single nucleotide variant |
Finnish type amyloidosis [RCV005042822]|Inborn genetic diseases [RCV002389902]|not provided [RCV003095246] |
Chr9:121299875 [GRCh38] Chr9:124062153 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.98A>C (p.Asn33Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002433024] |
Chr9:121302069 [GRCh38] Chr9:124064347 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.2072C>T (p.Thr691Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002428130]|not provided [RCV003561029] |
Chr9:121332479 [GRCh38] Chr9:124094757 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1399G>A (p.Gly467Arg) |
single nucleotide variant |
Finnish type amyloidosis [RCV005042824]|Inborn genetic diseases [RCV002403398]|not provided [RCV003096921] |
Chr9:121324627 [GRCh38] Chr9:124086905 [GRCh37] Chr9:9q33.2 |
likely benign|uncertain significance |
NM_198252.3(GSN):c.1252T>C (p.Tyr418His) |
single nucleotide variant |
Inborn genetic diseases [RCV002389371] |
Chr9:121321328 [GRCh38] Chr9:124083606 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-1962C>A |
single nucleotide variant |
Inborn genetic diseases [RCV002389457]|not provided [RCV003095111] |
Chr9:121300001 [GRCh38] Chr9:124062279 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.2174C>A (p.Ala725Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002457611] |
Chr9:121332581 [GRCh38] Chr9:124094859 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1643C>T (p.Pro548Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002407799] |
Chr9:121327363 [GRCh38] Chr9:124089641 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.998G>A (p.Gly333Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002353030] |
Chr9:121318687 [GRCh38] Chr9:124080965 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-2068T>G |
single nucleotide variant |
Inborn genetic diseases [RCV002337539]|not provided [RCV003099526] |
Chr9:121299895 [GRCh38] Chr9:124062173 [GRCh37] Chr9:9q33.2 |
likely benign|uncertain significance |
NM_198252.3(GSN):c.-9-1986C>T |
single nucleotide variant |
Inborn genetic diseases [RCV002329919]|not provided [RCV003102549]|not specified [RCV003151404] |
Chr9:121299977 [GRCh38] Chr9:124062255 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.356G>A (p.Gly119Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002335975] |
Chr9:121310688 [GRCh38] Chr9:124072966 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1274T>C (p.Ile425Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002391967] |
Chr9:121321350 [GRCh38] Chr9:124083628 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.2015C>G (p.Ala672Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002432670] |
Chr9:121331437 [GRCh38] Chr9:124093715 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1769T>C (p.Phe590Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002410743] |
Chr9:121328897 [GRCh38] Chr9:124091175 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1813C>T (p.Arg605Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002423398] |
Chr9:121328941 [GRCh38] Chr9:124091219 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-2091A>C |
single nucleotide variant |
Inborn genetic diseases [RCV002346940] |
Chr9:121299872 [GRCh38] Chr9:124062150 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1822G>A (p.Asp608Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002423570] |
Chr9:121328950 [GRCh38] Chr9:124091228 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.-9-2091A>G |
single nucleotide variant |
Inborn genetic diseases [RCV002346948]|not provided [RCV003102723] |
Chr9:121299872 [GRCh38] Chr9:124062150 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.268G>A (p.Gly90Ser) |
single nucleotide variant |
Finnish type amyloidosis [RCV005042809]|Inborn genetic diseases [RCV002328029] |
Chr9:121302982 [GRCh38] Chr9:124065260 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.5T>C (p.Val2Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002398411] |
Chr9:121301976 [GRCh38] Chr9:124064254 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1769_1775delinsCCT (p.Phe590fs) |
indel |
Inborn genetic diseases [RCV002410732] |
Chr9:121328897..121328903 [GRCh38] Chr9:124091175..124091181 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1714A>G (p.Arg572Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002415011] |
Chr9:121327434 [GRCh38] Chr9:124089712 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-2090C>G |
single nucleotide variant |
Inborn genetic diseases [RCV002380779] |
Chr9:121299873 [GRCh38] Chr9:124062151 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.689C>T (p.Pro230Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002414354]|not provided [RCV003776505] |
Chr9:121313959 [GRCh38] Chr9:124076237 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.906G>A (p.Glu302=) |
single nucleotide variant |
Inborn genetic diseases [RCV002407583] |
Chr9:121318425 [GRCh38] Chr9:124080703 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1614C>G (p.Asn538Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002407641] |
Chr9:121327334 [GRCh38] Chr9:124089612 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1763-17G>A |
single nucleotide variant |
not provided [RCV002771251] |
Chr9:121328874 [GRCh38] Chr9:124091152 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.162C>T (p.Asn54=) |
single nucleotide variant |
not provided [RCV002994650] |
Chr9:121302133 [GRCh38] Chr9:124064411 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1505G>A (p.Arg502His) |
single nucleotide variant |
not provided [RCV002815468] |
Chr9:121326600 [GRCh38] Chr9:124088878 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1692G>C (p.Lys564Asn) |
single nucleotide variant |
not provided [RCV002685385] |
Chr9:121327412 [GRCh38] Chr9:124089690 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1852C>T (p.Leu618Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002860253]|not provided [RCV005059318] |
Chr9:121328980 [GRCh38] Chr9:124091258 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1966-15G>A |
single nucleotide variant |
not provided [RCV002881600] |
Chr9:121331373 [GRCh38] Chr9:124093651 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1040A>C (p.Asp347Ala) |
single nucleotide variant |
not provided [RCV002903041] |
Chr9:121318729 [GRCh38] Chr9:124081007 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1326-3dup |
duplication |
not provided [RCV002903787] |
Chr9:121324549..121324550 [GRCh38] Chr9:124086827..124086828 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.885A>G (p.Lys295=) |
single nucleotide variant |
Finnish type amyloidosis [RCV005042859]|not provided [RCV002512386] |
Chr9:121317217 [GRCh38] Chr9:124079495 [GRCh37] Chr9:9q33.2 |
likely benign|conflicting interpretations of pathogenicity |
NM_198252.3(GSN):c.910A>C (p.Arg304=) |
single nucleotide variant |
not provided [RCV002731220] |
Chr9:121318429 [GRCh38] Chr9:124080707 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.625G>A (p.Val209Met) |
single nucleotide variant |
not provided [RCV002615325] |
Chr9:121312450 [GRCh38] Chr9:124074728 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1372C>T (p.Leu458=) |
single nucleotide variant |
not provided [RCV002794841] |
Chr9:121324600 [GRCh38] Chr9:124086878 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.855C>T (p.His285=) |
single nucleotide variant |
not provided [RCV002996049] |
Chr9:121317187 [GRCh38] Chr9:124079465 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1224C>T (p.Pro408=) |
single nucleotide variant |
not provided [RCV002975672] |
Chr9:121321300 [GRCh38] Chr9:124083578 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.613G>A (p.Ala205Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002883413] |
Chr9:121312438 [GRCh38] Chr9:124074716 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.171G>T (p.Leu57=) |
single nucleotide variant |
not provided [RCV002681417] |
Chr9:121302142 [GRCh38] Chr9:124064420 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1533C>T (p.Ser511=) |
single nucleotide variant |
not provided [RCV002613737] |
Chr9:121326628 [GRCh38] Chr9:124088906 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.-9-2035C>T |
single nucleotide variant |
not provided [RCV003012177] |
Chr9:121299928 [GRCh38] Chr9:124062206 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1762+3A>C |
single nucleotide variant |
Inborn genetic diseases [RCV002905921] |
Chr9:121327485 [GRCh38] Chr9:124089763 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1830G>A (p.Lys610=) |
single nucleotide variant |
not provided [RCV002755020] |
Chr9:121328958 [GRCh38] Chr9:124091236 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1322A>G (p.Asn441Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002817369] |
Chr9:121321398 [GRCh38] Chr9:124083676 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.649G>C (p.Glu217Gln) |
single nucleotide variant |
not provided [RCV002617527] |
Chr9:121312474 [GRCh38] Chr9:124074752 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1417-14T>A |
single nucleotide variant |
not provided [RCV002690175] |
Chr9:121326498 [GRCh38] Chr9:124088776 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.421G>A (p.Val141Ile) |
single nucleotide variant |
not provided [RCV002727068] |
Chr9:121310753 [GRCh38] Chr9:124073031 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.617G>T (p.Arg206Leu) |
single nucleotide variant |
not provided [RCV002617618] |
Chr9:121312442 [GRCh38] Chr9:124074720 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1306G>A (p.Gly436Arg) |
single nucleotide variant |
not provided [RCV002947455] |
Chr9:121321382 [GRCh38] Chr9:124083660 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1064G>A (p.Gly355Asp) |
single nucleotide variant |
not provided [RCV002690069] |
Chr9:121318753 [GRCh38] Chr9:124081031 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.537C>T (p.Ser179=) |
single nucleotide variant |
not provided [RCV002740348] |
Chr9:121312362 [GRCh38] Chr9:124074640 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1150G>A (p.Ala384Thr) |
single nucleotide variant |
not provided [RCV003003093] |
Chr9:121318839 [GRCh38] Chr9:124081117 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.710C>T (p.Ala237Val) |
single nucleotide variant |
not provided [RCV002621622] |
Chr9:121313980 [GRCh38] Chr9:124076258 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-2001C>T |
single nucleotide variant |
not provided [RCV002796393] |
Chr9:121299962 [GRCh38] Chr9:124062240 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-1948C>T |
single nucleotide variant |
not provided [RCV002659009] |
Chr9:121300015 [GRCh38] Chr9:124062293 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.-9-2053del |
deletion |
not provided [RCV002736641] |
Chr9:121299909 [GRCh38] Chr9:124062187 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.663+15C>T |
single nucleotide variant |
not provided [RCV002590431] |
Chr9:121312503 [GRCh38] Chr9:124074781 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.548G>A (p.Arg183Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002952240] |
Chr9:121312373 [GRCh38] Chr9:124074651 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.552T>C (p.Tyr184=) |
single nucleotide variant |
not provided [RCV002820285] |
Chr9:121312377 [GRCh38] Chr9:124074655 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.2009C>T (p.Thr670Ile) |
single nucleotide variant |
not provided [RCV002735897] |
Chr9:121331431 [GRCh38] Chr9:124093709 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.384G>A (p.Val128=) |
single nucleotide variant |
not provided [RCV002639096] |
Chr9:121310716 [GRCh38] Chr9:124072994 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.351+3G>A |
single nucleotide variant |
not provided [RCV002621080] |
Chr9:121303068 [GRCh38] Chr9:124065346 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1887+11G>A |
single nucleotide variant |
not provided [RCV002639006] |
Chr9:121329026 [GRCh38] Chr9:124091304 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.726C>G (p.Ala242=) |
single nucleotide variant |
not provided [RCV002867936] |
Chr9:121313996 [GRCh38] Chr9:124076274 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.-9-2023G>T |
single nucleotide variant |
not provided [RCV003036079] |
Chr9:121299940 [GRCh38] Chr9:124062218 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.414C>G (p.Leu138=) |
single nucleotide variant |
not provided [RCV002636388] |
Chr9:121310746 [GRCh38] Chr9:124073024 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.789C>T (p.Leu263=) |
single nucleotide variant |
not provided [RCV002569473] |
Chr9:121317121 [GRCh38] Chr9:124079399 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.211C>T (p.Gln71Ter) |
single nucleotide variant |
not provided [RCV003019417] |
Chr9:121302925 [GRCh38] Chr9:124065203 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1104G>A (p.Arg368=) |
single nucleotide variant |
not provided [RCV002695786] |
Chr9:121318793 [GRCh38] Chr9:124081071 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.201T>A (p.Asn67Lys) |
single nucleotide variant |
not provided [RCV002619847] |
Chr9:121302915 [GRCh38] Chr9:124065193 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.567C>T (p.Ala189=) |
single nucleotide variant |
not provided [RCV002949551] |
Chr9:121312392 [GRCh38] Chr9:124074670 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1839C>T (p.Ala613=) |
single nucleotide variant |
not provided [RCV002848432] |
Chr9:121328967 [GRCh38] Chr9:124091245 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1093A>G (p.Asn365Asp) |
single nucleotide variant |
not provided [RCV003020426] |
Chr9:121318782 [GRCh38] Chr9:124081060 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1266C>T (p.Ser422=) |
single nucleotide variant |
not provided [RCV002590581] |
Chr9:121321342 [GRCh38] Chr9:124083620 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.277G>T (p.Val93Leu) |
single nucleotide variant |
not provided [RCV002756789] |
Chr9:121302991 [GRCh38] Chr9:124065269 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1171G>C (p.Asp391His) |
single nucleotide variant |
not provided [RCV002706144] |
Chr9:121318860 [GRCh38] Chr9:124081138 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1640C>G (p.Thr547Ser) |
single nucleotide variant |
not provided [RCV002824454] |
Chr9:121327360 [GRCh38] Chr9:124089638 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.753+2T>A |
single nucleotide variant |
not provided [RCV002796543] |
Chr9:121314025 [GRCh38] Chr9:124076303 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.66G>A (p.Val22=) |
single nucleotide variant |
not provided [RCV002695252] |
Chr9:121302037 [GRCh38] Chr9:124064315 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1723C>G (p.Arg575Gly) |
single nucleotide variant |
not provided [RCV002866482] |
Chr9:121327443 [GRCh38] Chr9:124089721 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.975+18G>C |
single nucleotide variant |
not provided [RCV002658949] |
Chr9:121318512 [GRCh38] Chr9:124080790 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.-9-2064C>T |
single nucleotide variant |
not provided [RCV002570026] |
Chr9:121299899 [GRCh38] Chr9:124062177 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1416+19C>G |
single nucleotide variant |
not provided [RCV002659023] |
Chr9:121324663 [GRCh38] Chr9:124086941 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.871dup (p.Ile291fs) |
duplication |
not provided [RCV002886577] |
Chr9:121317199..121317200 [GRCh38] Chr9:124079477..124079478 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1937A>T (p.Asp646Val) |
single nucleotide variant |
not provided [RCV002734990] |
Chr9:121329287 [GRCh38] Chr9:124091565 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1102C>T (p.Arg368Trp) |
single nucleotide variant |
not provided [RCV002590350] |
Chr9:121318791 [GRCh38] Chr9:124081069 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1134C>T (p.Thr378=) |
single nucleotide variant |
not provided [RCV002927511] |
Chr9:121318823 [GRCh38] Chr9:124081101 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1974C>A (p.Val658=) |
single nucleotide variant |
not provided [RCV002894460] |
Chr9:121331396 [GRCh38] Chr9:124093674 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.352-19T>C |
single nucleotide variant |
not provided [RCV002593684] |
Chr9:121310665 [GRCh38] Chr9:124072943 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1203C>T (p.Ile401=) |
single nucleotide variant |
not provided [RCV002574177] |
Chr9:121321279 [GRCh38] Chr9:124083557 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.2085G>T (p.Val695=) |
single nucleotide variant |
not provided [RCV002805770] |
Chr9:121332492 [GRCh38] Chr9:124094770 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.286C>A (p.Arg96Ser) |
single nucleotide variant |
not provided [RCV002710465] |
Chr9:121303000 [GRCh38] Chr9:124065278 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-1947G>A |
single nucleotide variant |
not provided [RCV002626511] |
Chr9:121300016 [GRCh38] Chr9:124062294 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1887+5G>A |
single nucleotide variant |
not provided [RCV002875888] |
Chr9:121329020 [GRCh38] Chr9:124091298 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.442C>T (p.Arg148Cys) |
single nucleotide variant |
not provided [RCV002711233] |
Chr9:121310774 [GRCh38] Chr9:124073052 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1993C>T (p.Gln665Ter) |
single nucleotide variant |
Finnish type amyloidosis [RCV005044996]|not provided [RCV002801421] |
Chr9:121331415 [GRCh38] Chr9:124093693 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.2027-13C>T |
single nucleotide variant |
not provided [RCV002890574] |
Chr9:121332421 [GRCh38] Chr9:124094699 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.-9-2044G>A |
single nucleotide variant |
not provided [RCV002625926] |
Chr9:121299919 [GRCh38] Chr9:124062197 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1762+15G>C |
single nucleotide variant |
not provided [RCV002594335] |
Chr9:121327497 [GRCh38] Chr9:124089775 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.222C>T (p.Ser74=) |
single nucleotide variant |
not provided [RCV002643796] |
Chr9:121302936 [GRCh38] Chr9:124065214 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1588-4C>T |
single nucleotide variant |
not provided [RCV003023140] |
Chr9:121327304 [GRCh38] Chr9:124089582 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1890C>T (p.Ile630=) |
single nucleotide variant |
not provided [RCV002572709] |
Chr9:121329240 [GRCh38] Chr9:124091518 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1231C>T (p.Pro411Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004973642]|not provided [RCV002786659] |
Chr9:121321307 [GRCh38] Chr9:124083585 [GRCh37] Chr9:9q33.2 |
likely benign|uncertain significance |
NM_198252.3(GSN):c.1573dup (p.Thr525fs) |
duplication |
not provided [RCV002508439] |
Chr9:121326667..121326668 [GRCh38] Chr9:124088945..124088946 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.197-14C>T |
single nucleotide variant |
not provided [RCV002701331] |
Chr9:121302897 [GRCh38] Chr9:124065175 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.-9-1964G>A |
single nucleotide variant |
not provided [RCV003057048] |
Chr9:121299999 [GRCh38] Chr9:124062277 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.-9-1959G>T |
single nucleotide variant |
not provided [RCV002711843] |
Chr9:121300004 [GRCh38] Chr9:124062282 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1326-8C>T |
single nucleotide variant |
not provided [RCV003039728] |
Chr9:121324546 [GRCh38] Chr9:124086824 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.892C>G (p.Gln298Glu) |
single nucleotide variant |
not provided [RCV002805336] |
Chr9:121318411 [GRCh38] Chr9:124080689 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.887-4A>G |
single nucleotide variant |
not provided [RCV002643837] |
Chr9:121318402 [GRCh38] Chr9:124080680 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1477A>T (p.Met493Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002665310]|not provided [RCV003546866] |
Chr9:121326572 [GRCh38] Chr9:124088850 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1884del (p.Phe628fs) |
deletion |
not provided [RCV002626704] |
Chr9:121329009 [GRCh38] Chr9:124091287 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1762+20G>A |
single nucleotide variant |
not provided [RCV003043121] |
Chr9:121327502 [GRCh38] Chr9:124089780 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.19G>A (p.Glu7Lys) |
single nucleotide variant |
Finnish type amyloidosis [RCV005045312]|Inborn genetic diseases [RCV002595148]|not provided [RCV002585435] |
Chr9:121301990 [GRCh38] Chr9:124064268 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.119C>T (p.Thr40Met) |
single nucleotide variant |
not provided [RCV002642833] |
Chr9:121302090 [GRCh38] Chr9:124064368 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1858G>A (p.Ala620Thr) |
single nucleotide variant |
not provided [RCV002829456] |
Chr9:121328986 [GRCh38] Chr9:124091264 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.269G>T (p.Gly90Val) |
single nucleotide variant |
not provided [RCV002575301] |
Chr9:121302983 [GRCh38] Chr9:124065261 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.110A>C (p.Asp37Ala) |
single nucleotide variant |
not provided [RCV002574313] |
Chr9:121302081 [GRCh38] Chr9:124064359 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1356C>G (p.Val452=) |
single nucleotide variant |
not provided [RCV002802017] |
Chr9:121324584 [GRCh38] Chr9:124086862 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.430C>T (p.Arg144Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002642811]|not provided [RCV002653272] |
Chr9:121310762 [GRCh38] Chr9:124073040 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.89T>G (p.Val30Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002644623] |
Chr9:121302060 [GRCh38] Chr9:124064338 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.197-4G>T |
single nucleotide variant |
not provided [RCV002626791] |
Chr9:121302907 [GRCh38] Chr9:124065185 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1350T>A (p.Asp450Glu) |
single nucleotide variant |
not provided [RCV002786740] |
Chr9:121324578 [GRCh38] Chr9:124086856 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.239T>C (p.Phe80Ser) |
single nucleotide variant |
not provided [RCV002650585] |
Chr9:121302953 [GRCh38] Chr9:124065231 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.752A>G (p.Lys251Arg) |
single nucleotide variant |
not provided [RCV002962847] |
Chr9:121314022 [GRCh38] Chr9:124076300 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1199G>C (p.Arg400Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002718454] |
Chr9:121321275 [GRCh38] Chr9:124083553 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1724G>T (p.Arg575Leu) |
single nucleotide variant |
not provided [RCV002631318] |
Chr9:121327444 [GRCh38] Chr9:124089722 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1080C>T (p.Ser360=) |
single nucleotide variant |
not provided [RCV002721204] |
Chr9:121318769 [GRCh38] Chr9:124081047 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.-9-2072G>T |
single nucleotide variant |
not provided [RCV002716253] |
Chr9:121299891 [GRCh38] Chr9:124062169 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.-9-1968_-9-1954del |
deletion |
not provided [RCV002900359] |
Chr9:121299995..121300009 [GRCh38] Chr9:124062273..124062287 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1763-2A>G |
single nucleotide variant |
not provided [RCV003031576] |
Chr9:121328889 [GRCh38] Chr9:124091167 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1588-17A>C |
single nucleotide variant |
not provided [RCV002601236] |
Chr9:121327291 [GRCh38] Chr9:124089569 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.308C>T (p.Ser103Leu) |
single nucleotide variant |
Finnish type amyloidosis [RCV005045086]|not provided [RCV002939009] |
Chr9:121303022 [GRCh38] Chr9:124065300 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-1947G>T |
single nucleotide variant |
not provided [RCV003044758] |
Chr9:121300016 [GRCh38] Chr9:124062294 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1755C>T (p.Ser585=) |
single nucleotide variant |
not provided [RCV003063651] |
Chr9:121327475 [GRCh38] Chr9:124089753 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.902C>T (p.Thr301Met) |
single nucleotide variant |
Finnish type amyloidosis [RCV005044931]|not provided [RCV002676178] |
Chr9:121318421 [GRCh38] Chr9:124080699 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1379C>T (p.Ala460Val) |
single nucleotide variant |
Finnish type amyloidosis [RCV005042897]|not provided [RCV002597536] |
Chr9:121324607 [GRCh38] Chr9:124086885 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-2002dup |
duplication |
not provided [RCV003087388] |
Chr9:121299955..121299956 [GRCh38] Chr9:124062233..124062234 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1357G>A (p.Ala453Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003086684]|not provided [RCV003086685] |
Chr9:121324585 [GRCh38] Chr9:124086863 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.721G>A (p.Ala241Thr) |
single nucleotide variant |
not provided [RCV002810375] |
Chr9:121313991 [GRCh38] Chr9:124076269 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1604G>A (p.Gly535Asp) |
single nucleotide variant |
not provided [RCV002746104] |
Chr9:121327324 [GRCh38] Chr9:124089602 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1624G>A (p.Ala542Thr) |
single nucleotide variant |
not provided [RCV002716542] |
Chr9:121327344 [GRCh38] Chr9:124089622 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1309C>A (p.Gln437Lys) |
single nucleotide variant |
not provided [RCV002895394] |
Chr9:121321385 [GRCh38] Chr9:124083663 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1552C>T (p.Arg518Cys) |
single nucleotide variant |
not provided [RCV002578978] |
Chr9:121326647 [GRCh38] Chr9:124088925 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.966G>A (p.Lys322=) |
single nucleotide variant |
not provided [RCV002856806] |
Chr9:121318485 [GRCh38] Chr9:124080763 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.981G>T (p.Ser327=) |
single nucleotide variant |
Finnish type amyloidosis [RCV005050751]|not provided [RCV002627879] |
Chr9:121318670 [GRCh38] Chr9:124080948 [GRCh37] Chr9:9q33.2 |
likely benign|uncertain significance |
NM_198252.3(GSN):c.2175C>T (p.Ala725=) |
single nucleotide variant |
not provided [RCV003028669] |
Chr9:121332582 [GRCh38] Chr9:124094860 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1762+9C>T |
single nucleotide variant |
not provided [RCV002627904] |
Chr9:121327491 [GRCh38] Chr9:124089769 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.351+10G>A |
single nucleotide variant |
not provided [RCV002720200] |
Chr9:121303075 [GRCh38] Chr9:124065353 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1251C>A (p.Phe417Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002807652]|not provided [RCV003777744] |
Chr9:121321327 [GRCh38] Chr9:124083605 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.127G>A (p.Ala43Thr) |
single nucleotide variant |
not provided [RCV002670752] |
Chr9:121302098 [GRCh38] Chr9:124064376 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.43C>T (p.Pro15Ser) |
single nucleotide variant |
not provided [RCV002898838] |
Chr9:121302014 [GRCh38] Chr9:124064292 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.659T>G (p.Leu220Arg) |
single nucleotide variant |
not provided [RCV003028715] |
Chr9:121312484 [GRCh38] Chr9:124074762 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.664-11A>G |
single nucleotide variant |
not provided [RCV002597827] |
Chr9:121313923 [GRCh38] Chr9:124076201 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.2026+15del |
deletion |
not provided [RCV002630869] |
Chr9:121331463 [GRCh38] Chr9:124093741 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.-9-2088G>A |
single nucleotide variant |
not provided [RCV002857583] |
Chr9:121299875 [GRCh38] Chr9:124062153 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.61C>T (p.Arg21Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002747539]|not provided [RCV005059249] |
Chr9:121302032 [GRCh38] Chr9:124064310 [GRCh37] Chr9:9q33.2 |
likely benign|uncertain significance |
NM_198252.3(GSN):c.1191+1G>T |
single nucleotide variant |
not provided [RCV002580504] |
Chr9:121318881 [GRCh38] Chr9:124081159 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1085A>T (p.His362Leu) |
single nucleotide variant |
not provided [RCV002601284] |
Chr9:121318774 [GRCh38] Chr9:124081052 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1415A>T (p.Gln472Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004978701]|not provided [RCV002632796] |
Chr9:121324643 [GRCh38] Chr9:124086921 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.252G>A (p.Leu84=) |
single nucleotide variant |
not provided [RCV003030864] |
Chr9:121302966 [GRCh38] Chr9:124065244 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1504C>A (p.Arg502Ser) |
single nucleotide variant |
not provided [RCV003031320] |
Chr9:121326599 [GRCh38] Chr9:124088877 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.371G>A (p.Gly124Glu) |
single nucleotide variant |
not provided [RCV002675608] |
Chr9:121310703 [GRCh38] Chr9:124072981 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1695G>A (p.Thr565=) |
single nucleotide variant |
not provided [RCV003009063] |
Chr9:121327415 [GRCh38] Chr9:124089693 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1515G>T (p.Gly505=) |
single nucleotide variant |
Finnish type amyloidosis [RCV005045062]|not provided [RCV002937959] |
Chr9:121326610 [GRCh38] Chr9:124088888 [GRCh37] Chr9:9q33.2 |
likely benign|uncertain significance |
NM_198252.3(GSN):c.1796C>T (p.Ala599Val) |
single nucleotide variant |
not provided [RCV002635791] |
Chr9:121328924 [GRCh38] Chr9:124091202 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.415T>C (p.Phe139Leu) |
single nucleotide variant |
not provided [RCV002726088] |
Chr9:121310747 [GRCh38] Chr9:124073025 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1926G>A (p.Leu642=) |
single nucleotide variant |
not provided [RCV002603856] |
Chr9:121329276 [GRCh38] Chr9:124091554 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1443C>G (p.Pro481=) |
single nucleotide variant |
not provided [RCV002635575] |
Chr9:121326538 [GRCh38] Chr9:124088816 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.708C>G (p.Thr236=) |
single nucleotide variant |
not provided [RCV002605877] |
Chr9:121313978 [GRCh38] Chr9:124076256 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1854C>G (p.Leu618=) |
single nucleotide variant |
not provided [RCV002635692] |
Chr9:121328982 [GRCh38] Chr9:124091260 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1149C>T (p.Ala383=) |
single nucleotide variant |
not provided [RCV002633187] |
Chr9:121318838 [GRCh38] Chr9:124081116 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.622C>T (p.His208Tyr) |
single nucleotide variant |
not provided [RCV002657872] |
Chr9:121312447 [GRCh38] Chr9:124074725 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.33A>G (p.Ala11=) |
single nucleotide variant |
not provided [RCV002608263] |
Chr9:121302004 [GRCh38] Chr9:124064282 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1191+13C>T |
single nucleotide variant |
not provided [RCV002585748] |
Chr9:121318893 [GRCh38] Chr9:124081171 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1221G>A (p.Val407=) |
single nucleotide variant |
not provided [RCV002586648] |
Chr9:121321297 [GRCh38] Chr9:124083575 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.810C>T (p.Phe270=) |
single nucleotide variant |
not provided [RCV002607428] |
Chr9:121317142 [GRCh38] Chr9:124079420 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1403G>A (p.Gly468Asp) |
single nucleotide variant |
not provided [RCV002609422] |
Chr9:121324631 [GRCh38] Chr9:124086909 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.117C>T (p.Phe39=) |
single nucleotide variant |
not provided [RCV002588913] |
Chr9:121302088 [GRCh38] Chr9:124064366 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.2057A>G (p.Asn686Ser) |
single nucleotide variant |
GSN-related disorder [RCV003418558]|not provided [RCV002588943] |
Chr9:121332464 [GRCh38] Chr9:124094742 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-2094C>T |
single nucleotide variant |
not provided [RCV002583570] |
Chr9:121299869 [GRCh38] Chr9:124062147 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1304del (p.Gln435fs) |
deletion |
not provided [RCV003092678] |
Chr9:121321380 [GRCh38] Chr9:124083658 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.894G>A (p.Gln298=) |
single nucleotide variant |
not provided [RCV002657920] |
Chr9:121318413 [GRCh38] Chr9:124080691 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1820A>C (p.Lys607Thr) |
single nucleotide variant |
not provided [RCV002588245] |
Chr9:121328948 [GRCh38] Chr9:124091226 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.996C>A (p.Gly332=) |
single nucleotide variant |
not provided [RCV002588258] |
Chr9:121318685 [GRCh38] Chr9:124080963 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1476C>G (p.Pro492=) |
single nucleotide variant |
not provided [RCV002590256] |
Chr9:121326571 [GRCh38] Chr9:124088849 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1785C>T (p.Gly595=) |
single nucleotide variant |
Finnish type amyloidosis [RCV005045313]|not provided [RCV002585527] |
Chr9:121328913 [GRCh38] Chr9:124091191 [GRCh37] Chr9:9q33.2 |
likely benign|uncertain significance |
NM_198252.3(GSN):c.1119C>T (p.Ala373=) |
single nucleotide variant |
not provided [RCV002612844] |
Chr9:121318808 [GRCh38] Chr9:124081086 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.663+19A>G |
single nucleotide variant |
not provided [RCV002612932] |
Chr9:121312507 [GRCh38] Chr9:124074785 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.-9-2084del |
deletion |
Finnish type amyloidosis [RCV005045336]|Inborn genetic diseases [RCV003250799]|not provided [RCV002611582] |
Chr9:121299876 [GRCh38] Chr9:124062154 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1887+12C>T |
single nucleotide variant |
not provided [RCV002584148] |
Chr9:121329027 [GRCh38] Chr9:124091305 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.-9-2030C>T |
single nucleotide variant |
not provided [RCV002612115] |
Chr9:121299933 [GRCh38] Chr9:124062211 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.87C>T (p.Pro29=) |
single nucleotide variant |
Finnish type amyloidosis [RCV005042896]|not provided [RCV002590184]|not specified [RCV003151412] |
Chr9:121302058 [GRCh38] Chr9:124064336 [GRCh37] Chr9:9q33.2 |
likely benign|uncertain significance |
NM_198252.3(GSN):c.-9-1987dup |
duplication |
Finnish type amyloidosis [RCV003158015] |
Chr9:121299971..121299972 [GRCh38] Chr9:124062249..124062250 [GRCh37] Chr9:9q33.2 |
likely pathogenic |
NM_198252.3(GSN):c.1700C>A (p.Ala567Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003218687] |
Chr9:121327420 [GRCh38] Chr9:124089698 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.131A>G (p.Tyr44Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003374325] |
Chr9:121302102 [GRCh38] Chr9:124064380 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.611G>A (p.Arg204Gln) |
single nucleotide variant |
Finnish type amyloidosis [RCV005047552]|Inborn genetic diseases [RCV003364090]|not provided [RCV003561322] |
Chr9:121312436 [GRCh38] Chr9:124074714 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1619A>G (p.Asn540Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003365209] |
Chr9:121327339 [GRCh38] Chr9:124089617 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.351+1G>A |
single nucleotide variant |
Inborn genetic diseases [RCV003362643] |
Chr9:121303066 [GRCh38] Chr9:124065344 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.578C>T (p.Ser193Phe) |
single nucleotide variant |
not provided [RCV003571109] |
Chr9:121312403 [GRCh38] Chr9:124074681 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1494C>T (p.Gly498=) |
single nucleotide variant |
not provided [RCV003874500] |
Chr9:121326589 [GRCh38] Chr9:124088867 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1253A>T (p.Tyr418Phe) |
single nucleotide variant |
not provided [RCV003712554] |
Chr9:121321329 [GRCh38] Chr9:124083607 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1887+13G>A |
single nucleotide variant |
not provided [RCV003880800] |
Chr9:121329028 [GRCh38] Chr9:124091306 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1582G>A (p.Val528Ile) |
single nucleotide variant |
not provided [RCV003880736] |
Chr9:121326677 [GRCh38] Chr9:124088955 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1419C>T (p.Ser473=) |
single nucleotide variant |
not provided [RCV003691126] |
Chr9:121326514 [GRCh38] Chr9:124088792 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.-10+5174_-10+5203del |
deletion |
not provided [RCV003430231] |
Chr9:121286734..121286763 [GRCh38] Chr9:124049012..124049041 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.225G>C (p.Gly75=) |
single nucleotide variant |
not provided [RCV003430233] |
Chr9:121302939 [GRCh38] Chr9:124065217 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1326-1036C>T |
single nucleotide variant |
Finnish type amyloidosis [RCV003448628] |
Chr9:121323518 [GRCh38] Chr9:124085796 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-10+5185A>T |
single nucleotide variant |
not provided [RCV003430232] |
Chr9:121286747 [GRCh38] Chr9:124049025 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1695G>T (p.Thr565=) |
single nucleotide variant |
not provided [RCV003740072] |
Chr9:121327415 [GRCh38] Chr9:124089693 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1548G>T (p.Gln516His) |
single nucleotide variant |
Inborn genetic diseases [RCV004634362]|not provided [RCV003824796] |
Chr9:121326643 [GRCh38] Chr9:124088921 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1504C>T (p.Arg502Cys) |
single nucleotide variant |
not provided [RCV003882433] |
Chr9:121326599 [GRCh38] Chr9:124088877 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-2061T>C |
single nucleotide variant |
not provided [RCV003662622] |
Chr9:121299902 [GRCh38] Chr9:124062180 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.753G>A (p.Lys251=) |
single nucleotide variant |
not provided [RCV003688307] |
Chr9:121314023 [GRCh38] Chr9:124076301 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.2171G>A (p.Arg724Lys) |
single nucleotide variant |
not provided [RCV003690260] |
Chr9:121332578 [GRCh38] Chr9:124094856 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.663+17C>A |
single nucleotide variant |
not provided [RCV003828313] |
Chr9:121312505 [GRCh38] Chr9:124074783 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.663+13T>C |
single nucleotide variant |
not provided [RCV003572019] |
Chr9:121312501 [GRCh38] Chr9:124074779 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1621G>C (p.Asp541His) |
single nucleotide variant |
not provided [RCV003689430] |
Chr9:121327341 [GRCh38] Chr9:124089619 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.197-7C>G |
single nucleotide variant |
not provided [RCV003739876] |
Chr9:121302904 [GRCh38] Chr9:124065182 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.2086G>A (p.Val696Met) |
single nucleotide variant |
not provided [RCV003739877] |
Chr9:121332493 [GRCh38] Chr9:124094771 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1224dup (p.Val409fs) |
duplication |
not provided [RCV003576673] |
Chr9:121321297..121321298 [GRCh38] Chr9:124083575..124083576 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1326-10C>A |
single nucleotide variant |
not provided [RCV003694765] |
Chr9:121324544 [GRCh38] Chr9:124086822 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1295G>A (p.Gly432Asp) |
single nucleotide variant |
not provided [RCV003829332] |
Chr9:121321371 [GRCh38] Chr9:124083649 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1699G>A (p.Ala567Thr) |
single nucleotide variant |
not provided [RCV003660070] |
Chr9:121327419 [GRCh38] Chr9:124089697 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.775A>G (p.Met259Val) |
single nucleotide variant |
not provided [RCV003739760] |
Chr9:121317107 [GRCh38] Chr9:124079385 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.664-11A>C |
single nucleotide variant |
not provided [RCV003882418] |
Chr9:121313923 [GRCh38] Chr9:124076201 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.80T>C (p.Leu27Pro) |
single nucleotide variant |
not provided [RCV003826517] |
Chr9:121302051 [GRCh38] Chr9:124064329 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.585C>G (p.Gly195=) |
single nucleotide variant |
not provided [RCV003715750] |
Chr9:121312410 [GRCh38] Chr9:124074688 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.469G>A (p.Glu157Lys) |
single nucleotide variant |
not provided [RCV003879292] |
Chr9:121310801 [GRCh38] Chr9:124073079 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1192-7C>T |
single nucleotide variant |
not provided [RCV003714790] |
Chr9:121321261 [GRCh38] Chr9:124083539 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1140T>C (p.Thr380=) |
single nucleotide variant |
not provided [RCV003547528] |
Chr9:121318829 [GRCh38] Chr9:124081107 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1165G>T (p.Asp389Tyr) |
single nucleotide variant |
not provided [RCV003546951] |
Chr9:121318854 [GRCh38] Chr9:124081132 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.479A>G (p.Asn160Ser) |
single nucleotide variant |
Finnish type amyloidosis [RCV005051396]|not provided [RCV003833707] |
Chr9:121310811 [GRCh38] Chr9:124073089 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1676C>T (p.Ala559Val) |
single nucleotide variant |
not provided [RCV003549829] |
Chr9:121327396 [GRCh38] Chr9:124089674 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1901C>A (p.Pro634His) |
single nucleotide variant |
not provided [RCV003699759] |
Chr9:121329251 [GRCh38] Chr9:124091529 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1587+11G>C |
single nucleotide variant |
not provided [RCV003849431] |
Chr9:121326693 [GRCh38] Chr9:124088971 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.2137G>T (p.Asp713Tyr) |
single nucleotide variant |
not provided [RCV003659058] |
Chr9:121332544 [GRCh38] Chr9:124094822 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.2066G>A (p.Arg689Gln) |
single nucleotide variant |
not provided [RCV003850526] |
Chr9:121332473 [GRCh38] Chr9:124094751 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1436A>G (p.Lys479Arg) |
single nucleotide variant |
not provided [RCV003698183] |
Chr9:121326531 [GRCh38] Chr9:124088809 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.685C>T (p.Leu229=) |
single nucleotide variant |
not provided [RCV005169966] |
Chr9:121313955 [GRCh38] Chr9:124076233 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1728C>A (p.Ala576=) |
single nucleotide variant |
not provided [RCV003699501] |
Chr9:121327448 [GRCh38] Chr9:124089726 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.636G>A (p.Glu212=) |
single nucleotide variant |
not provided [RCV003833573] |
Chr9:121312461 [GRCh38] Chr9:124074739 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1302C>G (p.Arg434=) |
single nucleotide variant |
not provided [RCV003833574] |
Chr9:121321378 [GRCh38] Chr9:124083656 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.751A>C (p.Lys251Gln) |
single nucleotide variant |
not provided [RCV003835845] |
Chr9:121314021 [GRCh38] Chr9:124076299 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1938C>T (p.Asp646=) |
single nucleotide variant |
not provided [RCV003816756] |
Chr9:121329288 [GRCh38] Chr9:124091566 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.-9-2082C>T |
single nucleotide variant |
not provided [RCV003836495] |
Chr9:121299881 [GRCh38] Chr9:124062159 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.43C>G (p.Pro15Ala) |
single nucleotide variant |
not provided [RCV003668174] |
Chr9:121302014 [GRCh38] Chr9:124064292 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.181C>T (p.Leu61Phe) |
single nucleotide variant |
Finnish type amyloidosis [RCV004559028]|not provided [RCV003836805] |
Chr9:121302152 [GRCh38] Chr9:124064430 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1888-12G>T |
single nucleotide variant |
not provided [RCV003814405] |
Chr9:121329226 [GRCh38] Chr9:124091504 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.460G>A (p.Val154Met) |
single nucleotide variant |
not provided [RCV003703068] |
Chr9:121310792 [GRCh38] Chr9:124073070 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.564G>A (p.Lys188=) |
single nucleotide variant |
not provided [RCV003835387] |
Chr9:121312389 [GRCh38] Chr9:124074667 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1554C>T (p.Arg518=) |
single nucleotide variant |
not provided [RCV003717213] |
Chr9:121326649 [GRCh38] Chr9:124088927 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1537C>T (p.Arg513Cys) |
single nucleotide variant |
not provided [RCV003834275] |
Chr9:121326632 [GRCh38] Chr9:124088910 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1564G>A (p.Ala522Thr) |
single nucleotide variant |
not provided [RCV003559224] |
Chr9:121326659 [GRCh38] Chr9:124088937 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1289G>A (p.Arg430His) |
single nucleotide variant |
not provided [RCV003550241] |
Chr9:121321365 [GRCh38] Chr9:124083643 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1571C>T (p.Ala524Val) |
single nucleotide variant |
Finnish type amyloidosis [RCV005047673]|not provided [RCV003561944] |
Chr9:121326666 [GRCh38] Chr9:124088944 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1757_1762+10dup |
duplication |
not provided [RCV003669995] |
Chr9:121327474..121327475 [GRCh38] Chr9:124089752..124089753 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1250T>A (p.Phe417Tyr) |
single nucleotide variant |
not provided [RCV003671130] |
Chr9:121321326 [GRCh38] Chr9:124083604 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-2061_-9-2032dup |
duplication |
not provided [RCV003817586] |
Chr9:121299899..121299900 [GRCh38] Chr9:124062177..124062178 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1417-10T>G |
single nucleotide variant |
not provided [RCV003670140] |
Chr9:121326502 [GRCh38] Chr9:124088780 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1465G>C (p.Gly489Arg) |
single nucleotide variant |
not provided [RCV003837583] |
Chr9:121326560 [GRCh38] Chr9:124088838 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1113C>T (p.Phe371=) |
single nucleotide variant |
not provided [RCV003724569] |
Chr9:121318802 [GRCh38] Chr9:124081080 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1362A>G (p.Ala454=) |
single nucleotide variant |
not provided [RCV003659530] |
Chr9:121324590 [GRCh38] Chr9:124086868 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.133G>A (p.Val45Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004366970]|not provided [RCV003849670] |
Chr9:121302104 [GRCh38] Chr9:124064382 [GRCh37] Chr9:9q33.2 |
likely benign|uncertain significance |
NM_198252.3(GSN):c.1326-14A>C |
single nucleotide variant |
not provided [RCV003697656] |
Chr9:121324540 [GRCh38] Chr9:124086818 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1116C>A (p.Asp372Glu) |
single nucleotide variant |
not provided [RCV003700382] |
Chr9:121318805 [GRCh38] Chr9:124081083 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.975+8T>C |
single nucleotide variant |
not provided [RCV003698185] |
Chr9:121318502 [GRCh38] Chr9:124080780 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1417-16C>G |
single nucleotide variant |
not provided [RCV003861464] |
Chr9:121326496 [GRCh38] Chr9:124088774 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1430A>G (p.Gln477Arg) |
single nucleotide variant |
not provided [RCV003712078] |
Chr9:121326525 [GRCh38] Chr9:124088803 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1052C>G (p.Thr351Arg) |
single nucleotide variant |
not provided [RCV003859190] |
Chr9:121318741 [GRCh38] Chr9:124081019 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1921G>T (p.Asp641Tyr) |
single nucleotide variant |
not provided [RCV003848484] |
Chr9:121329271 [GRCh38] Chr9:124091549 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.976-3C>T |
single nucleotide variant |
not provided [RCV003675476] |
Chr9:121318662 [GRCh38] Chr9:124080940 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.754-10G>A |
single nucleotide variant |
not provided [RCV003845519] |
Chr9:121317076 [GRCh38] Chr9:124079354 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1966-11C>G |
single nucleotide variant |
not provided [RCV003861082] |
Chr9:121331377 [GRCh38] Chr9:124093655 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1319A>G (p.Tyr440Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004634397]|not provided [RCV003864108] |
Chr9:121321395 [GRCh38] Chr9:124083673 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.528G>T (p.Trp176Cys) |
single nucleotide variant |
not provided [RCV003708961] |
Chr9:121312353 [GRCh38] Chr9:124074631 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-2006G>A |
single nucleotide variant |
not provided [RCV003711343] |
Chr9:121299957 [GRCh38] Chr9:124062235 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1095C>T (p.Asn365=) |
single nucleotide variant |
not provided [RCV003818919] |
Chr9:121318784 [GRCh38] Chr9:124081062 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1441C>T (p.Pro481Ser) |
single nucleotide variant |
not provided [RCV003710498] |
Chr9:121326536 [GRCh38] Chr9:124088814 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1724G>A (p.Arg575Gln) |
single nucleotide variant |
not provided [RCV003823723] |
Chr9:121327444 [GRCh38] Chr9:124089722 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1505G>T (p.Arg502Leu) |
single nucleotide variant |
not provided [RCV003863189] |
Chr9:121326600 [GRCh38] Chr9:124088878 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.2176A>G (p.Met726Val) |
single nucleotide variant |
not provided [RCV003848665] |
Chr9:121332583 [GRCh38] Chr9:124094861 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.360T>G (p.Gly120=) |
single nucleotide variant |
not provided [RCV003824425] |
Chr9:121310692 [GRCh38] Chr9:124072970 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.903G>A (p.Thr301=) |
single nucleotide variant |
not provided [RCV003821551] |
Chr9:121318422 [GRCh38] Chr9:124080700 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.730C>T (p.Arg244Cys) |
single nucleotide variant |
not provided [RCV003553855] |
Chr9:121314000 [GRCh38] Chr9:124076278 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1366G>T (p.Ala456Ser) |
single nucleotide variant |
not provided [RCV003683274] |
Chr9:121324594 [GRCh38] Chr9:124086872 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.988C>T (p.Pro330Ser) |
single nucleotide variant |
not provided [RCV003675689] |
Chr9:121318677 [GRCh38] Chr9:124080955 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.88G>A (p.Val30Met) |
single nucleotide variant |
not provided [RCV003821984] |
Chr9:121302059 [GRCh38] Chr9:124064337 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.996C>T (p.Gly332=) |
single nucleotide variant |
not provided [RCV003670708] |
Chr9:121318685 [GRCh38] Chr9:124080963 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1594C>A (p.Pro532Thr) |
single nucleotide variant |
not provided [RCV003822203] |
Chr9:121327314 [GRCh38] Chr9:124089592 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.982G>T (p.Val328Phe) |
single nucleotide variant |
not provided [RCV003566243] |
Chr9:121318671 [GRCh38] Chr9:124080949 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1960G>A (p.Asp654Asn) |
single nucleotide variant |
not provided [RCV003822467] |
Chr9:121329310 [GRCh38] Chr9:124091588 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.304G>A (p.Glu102Lys) |
single nucleotide variant |
not provided [RCV003705532] |
Chr9:121303018 [GRCh38] Chr9:124065296 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-2052C>T |
single nucleotide variant |
not provided [RCV003554031] |
Chr9:121299911 [GRCh38] Chr9:124062189 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.841T>C (p.Phe281Leu) |
single nucleotide variant |
not provided [RCV003853351] |
Chr9:121317173 [GRCh38] Chr9:124079451 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.69G>A (p.Glu23=) |
single nucleotide variant |
not provided [RCV003867316] |
Chr9:121302040 [GRCh38] Chr9:124064318 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.680C>T (p.Pro227Leu) |
single nucleotide variant |
not provided [RCV003868769] |
Chr9:121313950 [GRCh38] Chr9:124076228 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-2030C>A |
single nucleotide variant |
not provided [RCV003719469] |
Chr9:121299933 [GRCh38] Chr9:124062211 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.112T>C (p.Phe38Leu) |
single nucleotide variant |
not provided [RCV003684373] |
Chr9:121302083 [GRCh38] Chr9:124064361 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1326-7del |
deletion |
not provided [RCV003683867] |
Chr9:121324544 [GRCh38] Chr9:124086822 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.1153C>T (p.Gln385Ter) |
single nucleotide variant |
not provided [RCV003680909] |
Chr9:121318842 [GRCh38] Chr9:124081120 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.2038A>G (p.Ile680Val) |
single nucleotide variant |
not provided [RCV003674873] |
Chr9:121332445 [GRCh38] Chr9:124094723 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.754-9T>C |
single nucleotide variant |
not provided [RCV003867941] |
Chr9:121317077 [GRCh38] Chr9:124079355 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1934A>G (p.Asp645Gly) |
single nucleotide variant |
not provided [RCV003674923] |
Chr9:121329284 [GRCh38] Chr9:124091562 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.223G>T (p.Gly75Trp) |
single nucleotide variant |
not provided [RCV003853828] |
Chr9:121302937 [GRCh38] Chr9:124065215 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-1985G>A |
single nucleotide variant |
not provided [RCV003684614] |
Chr9:121299978 [GRCh38] Chr9:124062256 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.120G>A (p.Thr40=) |
single nucleotide variant |
not provided [RCV003872199] |
Chr9:121302091 [GRCh38] Chr9:124064369 [GRCh37] Chr9:9q33.2 |
likely benign|uncertain significance |
NM_198252.3(GSN):c.-9-2043C>T |
single nucleotide variant |
not provided [RCV003867193] |
Chr9:121299920 [GRCh38] Chr9:124062198 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.831A>G (p.Ser277=) |
single nucleotide variant |
not provided [RCV003869118] |
Chr9:121317163 [GRCh38] Chr9:124079441 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1356C>T (p.Val452=) |
single nucleotide variant |
not provided [RCV003859271] |
Chr9:121324584 [GRCh38] Chr9:124086862 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.425A>G (p.Lys142Arg) |
single nucleotide variant |
not provided [RCV003860948] |
Chr9:121310757 [GRCh38] Chr9:124073035 [GRCh37] Chr9:9q33.2 |
uncertain significance |
GRCh37/hg19 9q33.2-33.3(chr9:122755951-127551056)x1 |
copy number loss |
not specified [RCV003986827] |
Chr9:122755951..127551056 [GRCh37] Chr9:9q33.2-33.3 |
pathogenic |
NM_198252.3(GSN):c.1191+9A>G |
single nucleotide variant |
not provided [RCV003675709] |
Chr9:121318889 [GRCh38] Chr9:124081167 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1675G>A (p.Ala559Thr) |
single nucleotide variant |
not provided [RCV003728233] |
Chr9:121327395 [GRCh38] Chr9:124089673 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.351+2T>C |
single nucleotide variant |
not provided [RCV003551742] |
Chr9:121303067 [GRCh38] Chr9:124065345 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.649G>A (p.Glu217Lys) |
single nucleotide variant |
Finnish type amyloidosis [RCV005051337]|not provided [RCV003557471] |
Chr9:121312474 [GRCh38] Chr9:124074752 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.753+14G>A |
single nucleotide variant |
not provided [RCV003685101] |
Chr9:121314037 [GRCh38] Chr9:124076315 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1588-9C>T |
single nucleotide variant |
not provided [RCV003819863] |
Chr9:121327299 [GRCh38] Chr9:124089577 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1701C>T (p.Ala567=) |
single nucleotide variant |
not provided [RCV003869980] |
Chr9:121327421 [GRCh38] Chr9:124089699 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.2068C>T (p.Arg690Trp) |
single nucleotide variant |
not provided [RCV003721620] |
Chr9:121332475 [GRCh38] Chr9:124094753 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.2077A>G (p.Ile693Val) |
single nucleotide variant |
not provided [RCV003712306] |
Chr9:121332484 [GRCh38] Chr9:124094762 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.514-11C>G |
single nucleotide variant |
Finnish type amyloidosis [RCV005040556]|not provided [RCV003847935] |
Chr9:121312328 [GRCh38] Chr9:124074606 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.2164T>C (p.Leu722=) |
single nucleotide variant |
not provided [RCV003820151] |
Chr9:121332571 [GRCh38] Chr9:124094849 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1120G>A (p.Ala374Thr) |
single nucleotide variant |
not provided [RCV003719731] |
Chr9:121318809 [GRCh38] Chr9:124081087 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1801C>T (p.Arg601Cys) |
single nucleotide variant |
not provided [RCV003821690] |
Chr9:121328929 [GRCh38] Chr9:124091207 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1669A>G (p.Thr557Ala) |
single nucleotide variant |
Finnish type amyloidosis [RCV005040559]|not provided [RCV003848255] |
Chr9:121327389 [GRCh38] Chr9:124089667 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.615C>T (p.Ala205=) |
single nucleotide variant |
not provided [RCV003862088] |
Chr9:121312440 [GRCh38] Chr9:124074718 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.254A>T (p.Asp85Val) |
single nucleotide variant |
not provided [RCV003710076] |
Chr9:121302968 [GRCh38] Chr9:124065246 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.410G>T (p.Arg137Ile) |
single nucleotide variant |
Finnish type amyloidosis [RCV005047749]|not provided [RCV003681221] |
Chr9:121310742 [GRCh38] Chr9:124073020 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.736C>T (p.Leu246=) |
single nucleotide variant |
not provided [RCV003819229] |
Chr9:121314006 [GRCh38] Chr9:124076284 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.335C>A (p.Ser112Tyr) |
single nucleotide variant |
not provided [RCV003554593] |
Chr9:121303049 [GRCh38] Chr9:124065327 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1263C>T (p.Asp421=) |
single nucleotide variant |
not provided [RCV003565874] |
Chr9:121321339 [GRCh38] Chr9:124083617 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.514-19C>G |
single nucleotide variant |
not provided [RCV003674817] |
Chr9:121312320 [GRCh38] Chr9:124074598 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.272G>T (p.Arg91Leu) |
single nucleotide variant |
not provided [RCV003848069] |
Chr9:121302986 [GRCh38] Chr9:124065264 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1762+2T>A |
single nucleotide variant |
not provided [RCV003676191] |
Chr9:121327484 [GRCh38] Chr9:124089762 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.436G>A (p.Val146Met) |
single nucleotide variant |
not provided [RCV003731095] |
Chr9:121310768 [GRCh38] Chr9:124073046 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.686T>C (p.Leu229Pro) |
single nucleotide variant |
not provided [RCV003822379] |
Chr9:121313956 [GRCh38] Chr9:124076234 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1966-6C>T |
single nucleotide variant |
not provided [RCV003680577] |
Chr9:121331382 [GRCh38] Chr9:124093660 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.-9-2025G>T |
single nucleotide variant |
not provided [RCV003858507] |
Chr9:121299938 [GRCh38] Chr9:124062216 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.90G>A (p.Val30=) |
single nucleotide variant |
not provided [RCV003566445] |
Chr9:121302061 [GRCh38] Chr9:124064339 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1594C>T (p.Pro532Ser) |
single nucleotide variant |
not provided [RCV003680742] |
Chr9:121327314 [GRCh38] Chr9:124089592 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.886+15G>C |
single nucleotide variant |
not provided [RCV003820066] |
Chr9:121317233 [GRCh38] Chr9:124079511 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.250C>G (p.Leu84Val) |
single nucleotide variant |
not provided [RCV003681779] |
Chr9:121302964 [GRCh38] Chr9:124065242 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1763-18C>T |
single nucleotide variant |
not provided [RCV003820208] |
Chr9:121328873 [GRCh38] Chr9:124091151 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.2026+9C>T |
single nucleotide variant |
not provided [RCV003730011] |
Chr9:121331457 [GRCh38] Chr9:124093735 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.513+15C>T |
single nucleotide variant |
not provided [RCV003843999] |
Chr9:121310860 [GRCh38] Chr9:124073138 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.-9-2101A>G |
single nucleotide variant |
not provided [RCV003845300] |
Chr9:121299862 [GRCh38] Chr9:124062140 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.708C>T (p.Thr236=) |
single nucleotide variant |
not provided [RCV003863307] |
Chr9:121313978 [GRCh38] Chr9:124076256 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.-10+908C>T |
single nucleotide variant |
GSN-related disorder [RCV003979429] |
Chr9:121282470 [GRCh38] Chr9:124044748 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.30G>A (p.Lys10=) |
single nucleotide variant |
GSN-related disorder [RCV003964005] |
Chr9:121302001 [GRCh38] Chr9:124064279 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.-10+4624G>T |
single nucleotide variant |
GSN-related disorder [RCV003924252] |
Chr9:121286186 [GRCh38] Chr9:124048464 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.2165T>C (p.Leu722Ser) |
single nucleotide variant |
Finnish type amyloidosis [RCV005040648]|Inborn genetic diseases [RCV004396310]|not provided [RCV005104457] |
Chr9:121332572 [GRCh38] Chr9:124094850 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.542G>A (p.Ser181Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004396311] |
Chr9:121312367 [GRCh38] Chr9:124074645 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.787C>A (p.Leu263Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004396313] |
Chr9:121317119 [GRCh38] Chr9:124079397 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1132A>G (p.Thr378Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004396308] |
Chr9:121318821 [GRCh38] Chr9:124081099 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.2137G>C (p.Asp713His) |
single nucleotide variant |
Inborn genetic diseases [RCV004396309] |
Chr9:121332544 [GRCh38] Chr9:124094822 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1301G>A (p.Arg434His) |
single nucleotide variant |
Finnish type amyloidosis [RCV005051457]|not provided [RCV004598669] |
Chr9:121321377 [GRCh38] Chr9:124083655 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NC_000009.11:g.(?_124062140)_(124094881_?)dup |
duplication |
not provided [RCV004582048] |
Chr9:124062140..124094881 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NC_000009.11:g.(?_124092234)_(124094793_?)del |
deletion |
not provided [RCV004582049] |
Chr9:124092234..124094793 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1323C>G (p.Asn441Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004635000] |
Chr9:121321399 [GRCh38] Chr9:124083677 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1359dup (p.Ala454fs) |
duplication |
not provided [RCV004779894] |
Chr9:121324586..121324587 [GRCh38] Chr9:124086864..124086865 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.2027-32G>A |
single nucleotide variant |
not provided [RCV004722429] |
Chr9:121332402 [GRCh38] Chr9:124094680 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.749A>G (p.Tyr250Cys) |
single nucleotide variant |
Finnish type amyloidosis [RCV004781955] |
Chr9:121314019 [GRCh38] Chr9:124076297 [GRCh37] Chr9:9q33.2 |
pathogenic |
NM_198252.3(GSN):c.-10+4584G>A |
single nucleotide variant |
GSN-related disorder [RCV004756607] |
Chr9:121286146 [GRCh38] Chr9:124048424 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.2096G>A (p.Gly699Asp) |
single nucleotide variant |
GSN-related disorder [RCV004730392] |
Chr9:121332503 [GRCh38] Chr9:124094781 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1747G>A (p.Glu583Lys) |
single nucleotide variant |
GSN-related disorder [RCV004730738] |
Chr9:121327467 [GRCh38] Chr9:124089745 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.622C>G (p.His208Asp) |
single nucleotide variant |
Finnish type amyloidosis [RCV005048898] |
Chr9:121312447 [GRCh38] Chr9:124074725 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.2116G>C (p.Val706Leu) |
single nucleotide variant |
Finnish type amyloidosis [RCV005048905] |
Chr9:121332523 [GRCh38] Chr9:124094801 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1326-12T>A |
single nucleotide variant |
Finnish type amyloidosis [RCV005048902] |
Chr9:121324542 [GRCh38] Chr9:124086820 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1522G>A (p.Ala508Thr) |
single nucleotide variant |
Finnish type amyloidosis [RCV005048903] |
Chr9:121326617 [GRCh38] Chr9:124088895 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1204G>C (p.Glu402Gln) |
single nucleotide variant |
Finnish type amyloidosis [RCV005048899] |
Chr9:121321280 [GRCh38] Chr9:124083558 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1322A>T (p.Asn441Ile) |
single nucleotide variant |
Finnish type amyloidosis [RCV005048901] |
Chr9:121321398 [GRCh38] Chr9:124083676 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.2033G>A (p.Arg678Gln) |
single nucleotide variant |
Finnish type amyloidosis [RCV005048904] |
Chr9:121332440 [GRCh38] Chr9:124094718 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.2015C>T (p.Ala672Val) |
single nucleotide variant |
Finnish type amyloidosis [RCV005043811] |
Chr9:121331437 [GRCh38] Chr9:124093715 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1273A>T (p.Ile425Phe) |
single nucleotide variant |
Finnish type amyloidosis [RCV005040856]|Inborn genetic diseases [RCV004985639] |
Chr9:121321349 [GRCh38] Chr9:124083627 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1039G>A (p.Asp347Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004977755] |
Chr9:121318728 [GRCh38] Chr9:124081006 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.13C>A (p.His5Asn) |
single nucleotide variant |
Finnish type amyloidosis [RCV005043782] |
Chr9:121301984 [GRCh38] Chr9:124064262 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.157A>G (p.Arg53Gly) |
single nucleotide variant |
Finnish type amyloidosis [RCV005043787] |
Chr9:121302128 [GRCh38] Chr9:124064406 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.691G>T (p.Ala231Ser) |
single nucleotide variant |
Finnish type amyloidosis [RCV005043796] |
Chr9:121313961 [GRCh38] Chr9:124076239 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.804C>T (p.Asn268=) |
single nucleotide variant |
Finnish type amyloidosis [RCV005043797] |
Chr9:121317136 [GRCh38] Chr9:124079414 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.980C>T (p.Ser327Leu) |
single nucleotide variant |
Finnish type amyloidosis [RCV005043801]|not provided [RCV005105319] |
Chr9:121318669 [GRCh38] Chr9:124080947 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1213A>G (p.Asn405Asp) |
single nucleotide variant |
Finnish type amyloidosis [RCV005043804] |
Chr9:121321289 [GRCh38] Chr9:124083567 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1747G>T (p.Glu583Ter) |
single nucleotide variant |
Finnish type amyloidosis [RCV005043808] |
Chr9:121327467 [GRCh38] Chr9:124089745 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-2088G>C |
single nucleotide variant |
Finnish type amyloidosis [RCV005043777] |
Chr9:121299875 [GRCh38] Chr9:124062153 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.100C>A (p.Leu34Ile) |
single nucleotide variant |
Finnish type amyloidosis [RCV005043784] |
Chr9:121302071 [GRCh38] Chr9:124064349 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.287G>A (p.Arg96His) |
single nucleotide variant |
Finnish type amyloidosis [RCV005043790] |
Chr9:121303001 [GRCh38] Chr9:124065279 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.351+5G>A |
single nucleotide variant |
Finnish type amyloidosis [RCV005043791] |
Chr9:121303070 [GRCh38] Chr9:124065348 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.820G>T (p.Ala274Ser) |
single nucleotide variant |
Finnish type amyloidosis [RCV005043800] |
Chr9:121317152 [GRCh38] Chr9:124079430 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1000G>A (p.Glu334Lys) |
single nucleotide variant |
Finnish type amyloidosis [RCV005043802] |
Chr9:121318689 [GRCh38] Chr9:124080967 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-1981C>T |
single nucleotide variant |
Finnish type amyloidosis [RCV005043781]|not provided [RCV005105318] |
Chr9:121299982 [GRCh38] Chr9:124062260 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.100C>G (p.Leu34Val) |
single nucleotide variant |
Finnish type amyloidosis [RCV005043785] |
Chr9:121302071 [GRCh38] Chr9:124064349 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.233C>G (p.Ala78Gly) |
single nucleotide variant |
Finnish type amyloidosis [RCV005043788] |
Chr9:121302947 [GRCh38] Chr9:124065225 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.663+3G>A |
single nucleotide variant |
Finnish type amyloidosis [RCV005043795] |
Chr9:121312491 [GRCh38] Chr9:124074769 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1191+17G>A |
single nucleotide variant |
Finnish type amyloidosis [RCV005043803] |
Chr9:121318897 [GRCh38] Chr9:124081175 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1587+17G>T |
single nucleotide variant |
Finnish type amyloidosis [RCV005043806] |
Chr9:121326699 [GRCh38] Chr9:124088977 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1991C>A (p.Ser664Tyr) |
single nucleotide variant |
Finnish type amyloidosis [RCV005043810] |
Chr9:121331413 [GRCh38] Chr9:124093691 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.2074C>A (p.Pro692Thr) |
single nucleotide variant |
Finnish type amyloidosis [RCV005043812] |
Chr9:121332481 [GRCh38] Chr9:124094759 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.2116G>A (p.Val706Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004985640] |
Chr9:121332523 [GRCh38] Chr9:124094801 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-2022C>T |
single nucleotide variant |
Finnish type amyloidosis [RCV005043778]|not provided [RCV005063330] |
Chr9:121299941 [GRCh38] Chr9:124062219 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-2016C>T |
single nucleotide variant |
Finnish type amyloidosis [RCV005043779] |
Chr9:121299947 [GRCh38] Chr9:124062225 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1640C>T (p.Thr547Ile) |
single nucleotide variant |
Finnish type amyloidosis [RCV005043807] |
Chr9:121327360 [GRCh38] Chr9:124089638 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.94A>G (p.Thr32Ala) |
single nucleotide variant |
Finnish type amyloidosis [RCV005043783] |
Chr9:121302065 [GRCh38] Chr9:124064343 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.653C>T (p.Ala218Val) |
single nucleotide variant |
Finnish type amyloidosis [RCV005043794]|not provided [RCV005063331] |
Chr9:121312478 [GRCh38] Chr9:124074756 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1256G>A (p.Gly419Glu) |
single nucleotide variant |
Finnish type amyloidosis [RCV005043805] |
Chr9:121321332 [GRCh38] Chr9:124083610 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.2107C>T (p.Pro703Ser) |
single nucleotide variant |
Finnish type amyloidosis [RCV005043813] |
Chr9:121332514 [GRCh38] Chr9:124094792 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.110A>G (p.Asp37Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004977757] |
Chr9:121302081 [GRCh38] Chr9:124064359 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.443G>A (p.Arg148His) |
single nucleotide variant |
Inborn genetic diseases [RCV004977754]|not provided [RCV005110331] |
Chr9:121310775 [GRCh38] Chr9:124073053 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.355G>A (p.Gly119Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004977758] |
Chr9:121310687 [GRCh38] Chr9:124072965 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.818G>A (p.Gly273Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004977759] |
Chr9:121317150 [GRCh38] Chr9:124079428 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.267C>A (p.Asn89Lys) |
single nucleotide variant |
Finnish type amyloidosis [RCV005043789] |
Chr9:121302981 [GRCh38] Chr9:124065259 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.816G>C (p.Gln272His) |
single nucleotide variant |
Finnish type amyloidosis [RCV005043798] |
Chr9:121317148 [GRCh38] Chr9:124079426 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.817G>A (p.Gly273Arg) |
single nucleotide variant |
Finnish type amyloidosis [RCV005043799] |
Chr9:121317149 [GRCh38] Chr9:124079427 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1762+2T>C |
single nucleotide variant |
Finnish type amyloidosis [RCV005043809] |
Chr9:121327484 [GRCh38] Chr9:124089762 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-2002del |
deletion |
Finnish type amyloidosis [RCV005043780] |
Chr9:121299956 [GRCh38] Chr9:124062234 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.124G>A (p.Asp42Asn) |
single nucleotide variant |
Finnish type amyloidosis [RCV005043786] |
Chr9:121302095 [GRCh38] Chr9:124064373 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.418del (p.Gln140fs) |
deletion |
Finnish type amyloidosis [RCV005043792] |
Chr9:121310749 [GRCh38] Chr9:124073027 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.434G>T (p.Arg145Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004977753] |
Chr9:121310766 [GRCh38] Chr9:124073044 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.180C>A (p.Asp60Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004977756] |
Chr9:121302151 [GRCh38] Chr9:124064429 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.266A>G (p.Asn89Ser) |
single nucleotide variant |
not provided [RCV005060382] |
Chr9:121302980 [GRCh38] Chr9:124065258 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.242C>T (p.Thr81Ile) |
single nucleotide variant |
not provided [RCV005067463] |
Chr9:121302956 [GRCh38] Chr9:124065234 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.2030A>C (p.Lys677Thr) |
single nucleotide variant |
not provided [RCV005060417] |
Chr9:121332437 [GRCh38] Chr9:124094715 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1579G>T (p.Ala527Ser) |
single nucleotide variant |
not provided [RCV005173557] |
Chr9:121326674 [GRCh38] Chr9:124088952 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1558A>C (p.Asn520His) |
single nucleotide variant |
not provided [RCV005060001] |
Chr9:121326653 [GRCh38] Chr9:124088931 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1736T>C (p.Val579Ala) |
single nucleotide variant |
not provided [RCV005173522] |
Chr9:121327456 [GRCh38] Chr9:124089734 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.610C>T (p.Arg204Trp) |
single nucleotide variant |
not provided [RCV005089080] |
Chr9:121312435 [GRCh38] Chr9:124074713 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.625G>T (p.Val209Leu) |
single nucleotide variant |
not provided [RCV005146627] |
Chr9:121312450 [GRCh38] Chr9:124074728 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.651G>C (p.Glu217Asp) |
single nucleotide variant |
not provided [RCV005195211] |
Chr9:121312476 [GRCh38] Chr9:124074754 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.653C>G (p.Ala218Gly) |
single nucleotide variant |
not provided [RCV005147841] |
Chr9:121312478 [GRCh38] Chr9:124074756 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1232dup (p.Ala412fs) |
duplication |
not provided [RCV005122214] |
Chr9:121321305..121321306 [GRCh38] Chr9:124083583..124083584 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.601C>T (p.Arg201Trp) |
single nucleotide variant |
not provided [RCV005060267] |
Chr9:121312426 [GRCh38] Chr9:124074704 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1621G>A (p.Asp541Asn) |
single nucleotide variant |
not provided [RCV005060264] |
Chr9:121327341 [GRCh38] Chr9:124089619 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1608A>C (p.Ala536=) |
single nucleotide variant |
not provided [RCV005064692] |
Chr9:121327328 [GRCh38] Chr9:124089606 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.731G>T (p.Arg244Leu) |
single nucleotide variant |
not provided [RCV005062737] |
Chr9:121314001 [GRCh38] Chr9:124076279 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.754-6C>T |
single nucleotide variant |
not provided [RCV005174922] |
Chr9:121317080 [GRCh38] Chr9:124079358 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.-9-1942del |
deletion |
not provided [RCV005064483] |
Chr9:121300016 [GRCh38] Chr9:124062294 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.1588G>A (p.Val530Ile) |
single nucleotide variant |
not provided [RCV005171884] |
Chr9:121327308 [GRCh38] Chr9:124089586 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1888-19C>G |
single nucleotide variant |
not provided [RCV005086260] |
Chr9:121329219 [GRCh38] Chr9:124091497 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.997G>T (p.Gly333Cys) |
single nucleotide variant |
not provided [RCV005174574] |
Chr9:121318686 [GRCh38] Chr9:124080964 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-1942G>T |
single nucleotide variant |
not provided [RCV005171420] |
Chr9:121300021 [GRCh38] Chr9:124062299 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.-9-2058C>T |
single nucleotide variant |
not provided [RCV005174139] |
Chr9:121299905 [GRCh38] Chr9:124062183 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.486C>T (p.Gly162=) |
single nucleotide variant |
not provided [RCV005067079] |
Chr9:121310818 [GRCh38] Chr9:124073096 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.657G>A (p.Met219Ile) |
single nucleotide variant |
not provided [RCV005063828] |
Chr9:121312482 [GRCh38] Chr9:124074760 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1965+6T>C |
single nucleotide variant |
not provided [RCV005132799] |
Chr9:121329321 [GRCh38] Chr9:124091599 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-2014G>A |
single nucleotide variant |
not provided [RCV005164557] |
Chr9:121299949 [GRCh38] Chr9:124062227 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1171_1191+1del |
deletion |
not provided [RCV005132530] |
Chr9:121318860..121318881 [GRCh38] Chr9:124081138..124081159 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.963C>T (p.Pro321=) |
single nucleotide variant |
not provided [RCV005108877] |
Chr9:121318482 [GRCh38] Chr9:124080760 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1888-13C>T |
single nucleotide variant |
not provided [RCV005074311] |
Chr9:121329225 [GRCh38] Chr9:124091503 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1927G>A (p.Ala643Thr) |
single nucleotide variant |
not provided [RCV005140368] |
Chr9:121329277 [GRCh38] Chr9:124091555 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1862G>A (p.Cys621Tyr) |
single nucleotide variant |
not provided [RCV005177103] |
Chr9:121328990 [GRCh38] Chr9:124091268 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.197-17G>A |
single nucleotide variant |
not provided [RCV005069170] |
Chr9:121302894 [GRCh38] Chr9:124065172 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.196+25_196+36dup |
duplication |
not provided [RCV005073047] |
Chr9:121302182..121302183 [GRCh38] Chr9:124064460..124064461 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1191+16G>A |
single nucleotide variant |
not provided [RCV005138583] |
Chr9:121318896 [GRCh38] Chr9:124081174 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1506C>A (p.Arg502=) |
single nucleotide variant |
not provided [RCV005116245] |
Chr9:121326601 [GRCh38] Chr9:124088879 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.754-13T>C |
single nucleotide variant |
not provided [RCV005076544] |
Chr9:121317073 [GRCh38] Chr9:124079351 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.409A>G (p.Arg137Gly) |
single nucleotide variant |
not provided [RCV005138897] |
Chr9:121310741 [GRCh38] Chr9:124073019 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.682G>T (p.Ala228Ser) |
single nucleotide variant |
not provided [RCV005182408] |
Chr9:121313952 [GRCh38] Chr9:124076230 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.886+10A>T |
single nucleotide variant |
not provided [RCV005075726] |
Chr9:121317228 [GRCh38] Chr9:124079506 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1763-9C>A |
single nucleotide variant |
not provided [RCV005156861] |
Chr9:121328882 [GRCh38] Chr9:124091160 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.351+17C>T |
single nucleotide variant |
not provided [RCV005131549] |
Chr9:121303082 [GRCh38] Chr9:124065360 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.-9-20T>C |
single nucleotide variant |
not provided [RCV005070922] |
Chr9:121301943 [GRCh38] Chr9:124064221 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.2026+13G>A |
single nucleotide variant |
not provided [RCV005138821] |
Chr9:121331461 [GRCh38] Chr9:124093739 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.2027-12G>A |
single nucleotide variant |
not provided [RCV005071030] |
Chr9:121332422 [GRCh38] Chr9:124094700 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.380A>T (p.His127Leu) |
single nucleotide variant |
not provided [RCV005190560] |
Chr9:121310712 [GRCh38] Chr9:124072990 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1459del (p.Leu487fs) |
deletion |
not provided [RCV005161647] |
Chr9:121326553 [GRCh38] Chr9:124088831 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.2126T>G (p.Phe709Cys) |
single nucleotide variant |
not provided [RCV005080100] |
Chr9:121332533 [GRCh38] Chr9:124094811 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.915G>A (p.Lys305=) |
single nucleotide variant |
not provided [RCV005180417] |
Chr9:121318434 [GRCh38] Chr9:124080712 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.886+12A>G |
single nucleotide variant |
not provided [RCV005154152] |
Chr9:121317230 [GRCh38] Chr9:124079508 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1200A>G (p.Arg400=) |
single nucleotide variant |
not provided [RCV005117054] |
Chr9:121321276 [GRCh38] Chr9:124083554 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.76G>T (p.Asp26Tyr) |
single nucleotide variant |
not provided [RCV005119740] |
Chr9:121302047 [GRCh38] Chr9:124064325 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1762+20G>C |
single nucleotide variant |
not provided [RCV005167224] |
Chr9:121327502 [GRCh38] Chr9:124089780 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.-9-2063G>A |
single nucleotide variant |
not provided [RCV005167259] |
Chr9:121299900 [GRCh38] Chr9:124062178 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.-9-8C>G |
single nucleotide variant |
not provided [RCV005137749] |
Chr9:121301955 [GRCh38] Chr9:124064233 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.-9-1972del |
deletion |
not provided [RCV005165386] |
Chr9:121299989 [GRCh38] Chr9:124062267 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-2013C>A |
single nucleotide variant |
not provided [RCV005140845] |
Chr9:121299950 [GRCh38] Chr9:124062228 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.975+14G>A |
single nucleotide variant |
not provided [RCV005167679] |
Chr9:121318508 [GRCh38] Chr9:124080786 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.2073G>A (p.Thr691=) |
single nucleotide variant |
not provided [RCV005078306] |
Chr9:121332480 [GRCh38] Chr9:124094758 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1581T>C (p.Ala527=) |
single nucleotide variant |
not provided [RCV005108024] |
Chr9:121326676 [GRCh38] Chr9:124088954 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.915_916insTTC (p.Lys305_Ala306insPhe) |
insertion |
not provided [RCV005125159] |
Chr9:121318434..121318435 [GRCh38] Chr9:124080712..124080713 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1807T>A (p.Ser603Thr) |
single nucleotide variant |
not provided [RCV005162872] |
Chr9:121328935 [GRCh38] Chr9:124091213 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1965+16G>A |
single nucleotide variant |
not provided [RCV005080145] |
Chr9:121329331 [GRCh38] Chr9:124091609 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.147A>G (p.Thr49=) |
single nucleotide variant |
not provided [RCV005076694] |
Chr9:121302118 [GRCh38] Chr9:124064396 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1588-12G>A |
single nucleotide variant |
not provided [RCV005079486] |
Chr9:121327296 [GRCh38] Chr9:124089574 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.167A>G (p.Asn56Ser) |
single nucleotide variant |
not provided [RCV005139307] |
Chr9:121302138 [GRCh38] Chr9:124064416 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.516C>T (p.Asn172=) |
single nucleotide variant |
not provided [RCV005079785] |
Chr9:121312341 [GRCh38] Chr9:124074619 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.2026+11G>A |
single nucleotide variant |
not provided [RCV005071989] |
Chr9:121331459 [GRCh38] Chr9:124093737 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1457G>C (p.Ser486Thr) |
single nucleotide variant |
not provided [RCV005118654] |
Chr9:121326552 [GRCh38] Chr9:124088830 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.139C>G (p.Leu47Val) |
single nucleotide variant |
not provided [RCV005165145] |
Chr9:121302110 [GRCh38] Chr9:124064388 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.824T>C (p.Leu275Pro) |
single nucleotide variant |
not provided [RCV005118796] |
Chr9:121317156 [GRCh38] Chr9:124079434 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-4C>T |
single nucleotide variant |
not provided [RCV005083817] |
Chr9:121301968 [GRCh38] Chr9:124064246 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.243C>G (p.Thr81=) |
single nucleotide variant |
not provided [RCV005081534] |
Chr9:121302957 [GRCh38] Chr9:124065235 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.-9-1942dup |
duplication |
not provided [RCV005068942] |
Chr9:121300015..121300016 [GRCh38] Chr9:124062293..124062294 [GRCh37] Chr9:9q33.2 |
benign |
NM_198252.3(GSN):c.854A>C (p.His285Pro) |
single nucleotide variant |
not provided [RCV005181288] |
Chr9:121317186 [GRCh38] Chr9:124079464 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.2057A>T (p.Asn686Ile) |
single nucleotide variant |
not provided [RCV005155005] |
Chr9:121332464 [GRCh38] Chr9:124094742 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.439G>A (p.Val147Ile) |
single nucleotide variant |
not provided [RCV005182657] |
Chr9:121310771 [GRCh38] Chr9:124073049 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.270C>T (p.Gly90=) |
single nucleotide variant |
not provided [RCV005125042] |
Chr9:121302984 [GRCh38] Chr9:124065262 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1026C>T (p.Phe342=) |
single nucleotide variant |
not provided [RCV005152916] |
Chr9:121318715 [GRCh38] Chr9:124080993 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.351G>A (p.Lys117=) |
single nucleotide variant |
not provided [RCV005072551] |
Chr9:121303065 [GRCh38] Chr9:124065343 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1763-24_1763-13del |
deletion |
not provided [RCV005153064] |
Chr9:121328863..121328874 [GRCh38] Chr9:124091141..124091152 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.1155G>A (p.Gln385=) |
single nucleotide variant |
not provided [RCV005129897] |
Chr9:121318844 [GRCh38] Chr9:124081122 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.319C>G (p.Leu107Val) |
single nucleotide variant |
not provided [RCV005108695] |
Chr9:121303033 [GRCh38] Chr9:124065311 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1829A>C (p.Lys610Thr) |
single nucleotide variant |
not provided [RCV005149714] |
Chr9:121328957 [GRCh38] Chr9:124091235 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.1267T>A (p.Tyr423Asn) |
single nucleotide variant |
not provided [RCV005153500] |
Chr9:121321343 [GRCh38] Chr9:124083621 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.309G>A (p.Ser103=) |
single nucleotide variant |
not provided [RCV005202836] |
Chr9:121303023 [GRCh38] Chr9:124065301 [GRCh37] Chr9:9q33.2 |
likely benign |
NM_198252.3(GSN):c.-9-2046G>T |
single nucleotide variant |
not provided [RCV005073773] |
Chr9:121299917 [GRCh38] Chr9:124062195 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-2061_-9-2045dup |
duplication |
not provided [RCV005110739] |
Chr9:121299899..121299900 [GRCh38] Chr9:124062177..124062178 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.-9-1967_-9-1966insACCC |
insertion |
not provided [RCV005074850] |
Chr9:121299993..121299994 [GRCh38] Chr9:124062271..124062272 [GRCh37] Chr9:9q33.2 |
uncertain significance |
NM_198252.3(GSN):c.2137G>A (p.Asp713Asn) |
single nucleotide variant |
not provided [RCV005176380] |
Chr9:121332544 [GRCh38] Chr9:124094822 [GRCh37] Chr9:9q33.2 |
uncertain significance |