Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_198252.3(GSN):c.-9-2137C>T | 2934 | GSN | Uncertain significance | rs886063404 | RCV000407809; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124062104 | 124062104 | C | T | 9:g.124062104C>T | ClinGen:CA10628892 | | |
NM_001127666.2(GSN):c.-47-159_-47-153del | 2934 | GSN | Uncertain significance | rs1564468965 | RCV000779569; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124062173 | 124062179 | TTGCGCGC | T | 9:g.124062173_124062179del | - | | |
NM_001127666.2(GSN):c.-47-119C>T | 2934 | GSN | Uncertain significance | -1 | RCV001169573; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124062215 | 124062215 | C | T | 9:g.124062215C>T | - | | |
NM_001127666.2(GSN):c.-47-114G>A | 2934 | GSN | Uncertain significance | rs886063405 | RCV000310766; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124062220 | 124062220 | G | A | 9:g.124062220G>A | ClinGen:CA10632396 | | |
NM_001127666.2(GSN):c.-47-60C>T | 2934 | GSN | Benign | -1 | RCV001169574; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124062274 | 124062274 | C | T | 9:g.124062274C>T | - | | |
NM_001127666.2(GSN):c.30C>G (p.Asn10Lys) | 2934 | GSN | Uncertain significance | -1 | RCV001169575; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124064246 | 124064246 | C | G | 9:g.124064246C>G | - | | |
NM_001127666.2(GSN):c.40G>T (p.Val14Leu) | 2934 | GSN | Uncertain significance | -1 | RCV001165599; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124064256 | 124064256 | G | T | 9:g.124064256G>T | - | | |
NM_001127666.2(GSN):c.62A>G (p.Lys21Arg) | 2934 | GSN | Benign | rs115224458 | RCV000365448|RCV000956748; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202 | 9 | 124064278 | 124064278 | A | G | 9:g.124064278A>G | ClinGen:CA5220744 | | |
NM_001127666.2(GSN):c.156C>T (p.Gly52=) | 2934 | GSN | Likely benign | rs774617795 | RCV000275412; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124064372 | 124064372 | C | T | 9:g.124064372C>T | ClinGen:CA5220768 | C0002726 Amyloidosis; | |
NM_001127666.2(GSN):c.159C>T (p.Asp53=) | 2934 | GSN | Likely benign | -1 | RCV001165600; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124064375 | 124064375 | C | T | 9:g.124064375C>T | - | | |
NM_001127666.2(GSN):c.196G>A (p.Gly66Arg) | 2934 | GSN | Benign | rs556563870 | RCV000330487; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124064412 | 124064412 | G | A | 9:g.124064412G>A | ClinGen:CA5220778 | C0002726 Amyloidosis; | |
NM_001127666.2(GSN):c.229+7C>T | 2934 | GSN | Benign | rs146379508 | RCV000371221|RCV000879016; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202 | 9 | 124064452 | 124064452 | C | T | 9:g.124064452C>T | ClinGen:CA5220785 | C0002726 Amyloidosis; | |
NM_001127666.2(GSN):c.261G>A (p.Ala87=) | 2934 | GSN | Uncertain significance | -1 | RCV001165601; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124065220 | 124065220 | G | A | 9:g.124065220G>A | - | | |
NM_001127666.2(GSN):c.264C>A (p.Ala88=) | 2934 | GSN | Benign | -1 | RCV001165602; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124065223 | 124065223 | C | A | 9:g.124065223C>A | - | | |
NM_001127666.2(GSN):c.265G>A (p.Ala89Thr) | 2934 | GSN | Benign | rs2230287 | RCV000276675; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124065224 | 124065224 | G | A | 9:g.124065224G>A | ClinGen:CA5220812,UniProtKB:P06396#VAR_024690 | C0002726 Amyloidosis; | |
NM_001127666.2(GSN):c.276C>T (p.Thr92=) | 2934 | GSN | Benign | rs116956127 | RCV000317499|RCV000881338; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202 | 9 | 124065235 | 124065235 | C | T | 9:g.124065235C>T | ClinGen:CA5220815 | C0002726 Amyloidosis; | |
NM_001127666.2(GSN):c.304C>T (p.Arg102Trp) | 2934 | GSN | Benign | rs146956976 | RCV000372173; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124065263 | 124065263 | C | T | 9:g.124065263C>T | ClinGen:CA5220824 | C0002726 Amyloidosis; | |
NM_001127666.2(GSN):c.415G>A (p.Val139Met) | 2934 | GSN | Benign | rs41305623 | RCV000282194|RCV000957620; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202 | 9 | 124072992 | 124072992 | G | A | 9:g.124072992G>A | ClinGen:CA5220873 | | |
NM_001127666.2(GSN):c.460G>A (p.Gly154Arg) | 2934 | GSN | Likely benign | -1 | RCV001167187; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124073037 | 124073037 | G | A | 9:g.124073037G>A | - | | |
NM_001127666.2(GSN):c.473T>C (p.Val158Ala) | 2934 | GSN | Uncertain significance | -1 | RCV001167188; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124073050 | 124073050 | T | C | 9:g.124073050T>C | - | | |
NM_198252.3(GSN):c.487G>A (p.Asp163Asn) | 2934 | GSN | Pathogenic | rs121909715 | RCV000017564|RCV000489240; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202 | 9 | 124073097 | 124073097 | G | A | 9:g.124073097G>A | ClinGen:CA250652,OMIM:137350.0001 | C1622345 105120 Meretoja syndrome; | |
NM_198252.3(GSN):c.487G>T (p.Asp163Tyr) | 2934 | GSN | Pathogenic | rs121909715 | RCV000017565; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124073097 | 124073097 | G | T | 9:g.124073097G>T | ClinGen:CA250654,OMIM:137350.0002 | C1622345 105120 Meretoja syndrome; | |
NM_001127666.2(GSN):c.542G>C (p.Gly181Ala) | 2934 | GSN | Uncertain significance | -1 | RCV001167189; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124073119 | 124073119 | G | C | 9:g.124073119G>C | - | | |
NM_001127666.2(GSN):c.571A>G (p.Asn191Asp) | 2934 | GSN | Benign | rs11550199 | RCV000961960|RCV001167190; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124074641 | 124074641 | A | G | 9:g.124074641A>G | - | | |
NM_001127666.2(GSN):c.579T>G (p.Asn193Lys) | 2934 | GSN | Uncertain significance | rs752698745 | RCV000318498; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124074649 | 124074649 | T | G | 9:g.124074649T>G | ClinGen:CA5220934 | | |
NM_001127666.2(GSN):c.580C>T (p.Arg194Trp) | 2934 | GSN | Benign | -1 | RCV001167762; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124074650 | 124074650 | C | T | 9:g.124074650C>T | - | | |
NM_001127666.2(GSN):c.697-4A>G | 2934 | GSN | Benign | rs143590302 | RCV000890781|RCV001167763; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124076208 | 124076208 | A | G | 9:g.124076208A>G | - | | |
NM_001127666.2(GSN):c.756G>A (p.Ala252=) | 2934 | GSN | Likely benign | rs377624593 | RCV000378084; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124076271 | 124076271 | G | A | 9:g.124076271G>A | ClinGen:CA5221008 | | |
NM_001127666.2(GSN):c.787-11C>T | 2934 | GSN | Benign | -1 | RCV001167764; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124079353 | 124079353 | C | T | 9:g.124079353C>T | - | | |
NM_001127666.2(GSN):c.919+12A>C | 2934 | GSN | Uncertain significance | -1 | RCV001167765; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124079508 | 124079508 | A | C | 9:g.124079508A>C | - | | |
NM_001127666.2(GSN):c.947A>G (p.Lys316Arg) | 2934 | GSN | Uncertain significance | -1 | RCV001167766; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124080711 | 124080711 | A | G | 9:g.124080711A>G | - | | |
NM_001127666.2(GSN):c.1031G>T (p.Gly344Val) | 2934 | GSN | Uncertain significance | -1 | RCV001167767; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124080965 | 124080965 | G | T | 9:g.124080965G>T | - | | |
NM_198252.3(GSN):c.1009C>T (p.Leu337=) | 2934 | GSN | Benign | rs528161256 | RCV000918206|RCV001253934; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124080976 | 124080976 | C | T | 9:g.124080976C>T | - | | |
NM_198252.3(GSN):c.1037G>A (p.Arg346Gln) | 2934 | GSN | Uncertain significance | rs372681751 | RCV000343155; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124081004 | 124081004 | G | A | 9:g.124081004G>A | ClinGen:CA5221125 | | |
NM_198252.3(GSN):c.1098G>A (p.Val366=) | 2934 | GSN | Benign | rs201325199 | RCV000397866; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124081065 | 124081065 | G | A | 9:g.124081065G>A | ClinGen:CA5221145 | | |
NM_198252.3(GSN):c.1170C>T (p.Asp390=) | 2934 | GSN | Benign/Likely benign | rs147583697 | RCV000288952|RCV000921208; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202 | 9 | 124081137 | 124081137 | C | T | 9:g.124081137C>T | ClinGen:CA5221157 | | |
NM_198252.3(GSN):c.1171G>A (p.Asp391Asn) | 2934 | GSN | Benign | -1 | RCV001254007; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124081138 | 124081138 | G | A | 9:g.124081138G>A | - | | |
NM_198252.3(GSN):c.1191+4C>T | 2934 | GSN | Benign | rs372713895 | RCV000343885; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124081162 | 124081162 | C | T | 9:g.124081162C>T | ClinGen:CA5221164 | | |
NM_198252.3(GSN):c.1191+14G>A | 2934 | GSN | Benign | -1 | RCV001254008; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124081172 | 124081172 | G | A | 9:g.124081172G>A | - | | |
NM_198252.3(GSN):c.1225G>A (p.Val409Met) | 2934 | GSN | Benign | rs140042418 | RCV000390100; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124083579 | 124083579 | G | A | 9:g.124083579G>A | ClinGen:CA5221194 | | |
NM_001127666.2(GSN):c.1272A>G (p.Thr424=) | 2934 | GSN | Benign | rs149375418 | RCV000308967|RCV000956749; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202 | 9 | 124083593 | 124083593 | A | G | 9:g.124083593A>G | ClinGen:CA5221197 | | |
NM_001127666.2(GSN):c.1293C>T (p.Gly431=) | 2934 | GSN | Benign | rs2304393 | RCV000349867; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124083614 | 124083614 | C | T | 9:g.124083614C>T | ClinGen:CA5221200 | | |
NM_001127666.2(GSN):c.1321C>T (p.Arg441Cys) | 2934 | GSN | Benign | rs116185403 | RCV000398476|RCV000882012; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202 | 9 | 124083642 | 124083642 | C | T | 9:g.124083642C>T | ClinGen:CA5221203 | | |
NM_198252.3(GSN):c.1324T>C (p.Trp442Arg) | 2934 | GSN | Uncertain significance | -1 | RCV001265608; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124083678 | 124083678 | T | C | 9:g.124083678T>C | - | | |
NM_001127666.2(GSN):c.1454G>A (p.Arg485His) | 2934 | GSN | Benign | rs142828669 | RCV000314461; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124088794 | 124088794 | G | A | 9:g.124088794G>A | ClinGen:CA5221247 | | |
NM_001127666.2(GSN):c.1456G>T (p.Val486Leu) | 2934 | GSN | Benign | -1 | RCV001165663; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124088796 | 124088796 | G | T | 9:g.124088796G>T | - | | |
NM_001127666.2(GSN):c.1476C>T (p.Pro492=) | 2934 | GSN | Benign/Likely benign | rs200156774 | RCV000938536|RCV001165664; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124088816 | 124088816 | C | T | 9:g.124088816C>T | - | | |
NM_001127666.2(GSN):c.1520A>G (p.Tyr507Cys) | 2934 | GSN | Benign | rs139832048 | RCV000369097; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124088860 | 124088860 | A | G | 9:g.124088860A>G | ClinGen:CA5221261 | | |
NM_001127666.2(GSN):c.1546G>A (p.Gly516Arg) | 2934 | GSN | Benign | rs58750568 | RCV000260878; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124088886 | 124088886 | G | A | 9:g.124088886G>A | ClinGen:CA5221273 | | |
NM_001127666.2(GSN):c.1568C>G (p.Thr523Ser) | 2934 | GSN | Benign | rs77681311 | RCV000297409; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124088908 | 124088908 | C | G | 9:g.124088908C>G | ClinGen:CA5221281 | | |
NM_001127666.2(GSN):c.1580A>G (p.Gln527Arg) | 2934 | GSN | Uncertain significance | -1 | RCV001167255; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124088920 | 124088920 | A | G | 9:g.124088920A>G | - | | |
NM_001127666.2(GSN):c.1586G>A (p.Arg529His) | 2934 | GSN | Uncertain significance | rs769400986 | RCV000356817; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124088926 | 124088926 | G | A | 9:g.124088926G>A | ClinGen:CA5221286 | | |
NM_001127666.2(GSN):c.1588G>A (p.Ala530Thr) | 2934 | GSN | Benign | rs147554026 | RCV000262080; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124088928 | 124088928 | G | A | 9:g.124088928G>A | ClinGen:CA5221288 | | |
NM_001127666.2(GSN):c.1596C>T (p.Ser532=) | 2934 | GSN | Benign | rs140414249 | RCV000321730; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124088936 | 124088936 | C | T | 9:g.124088936C>T | ClinGen:CA5221289 | | |
NM_001127666.2(GSN):c.1610G>A (p.Arg537Gln) | 2934 | GSN | Likely benign | rs528604896 | RCV000376344; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124088950 | 124088950 | G | A | 9:g.124088950G>A | ClinGen:CA5221290 | | |
NM_198252.3(GSN):c.1585G>A (p.Glu529Lys) | 2934 | GSN | Uncertain significance | -1 | RCV001196370; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124088958 | 124088958 | G | A | 9:g.124088958G>A | - | | |
NM_001127666.2(GSN):c.1684G>A (p.Ala562Thr) | 2934 | GSN | Likely benign | -1 | RCV001167256; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124089649 | 124089649 | G | A | 9:g.124089649G>A | - | | |
NM_001127666.2(GSN):c.1690C>G (p.Leu564Val) | 2934 | GSN | Uncertain significance | -1 | RCV001167257; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124089655 | 124089655 | C | G | 9:g.124089655C>G | - | | |
NM_001127666.2(GSN):c.1696G>A (p.Val566Met) | 2934 | GSN | Benign | rs151208452 | RCV000267836|RCV000908629; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202 | 9 | 124089661 | 124089661 | G | A | 9:g.124089661G>A | ClinGen:CA5221375 | | |
NM_001127666.2(GSN):c.1713C>T (p.Ser571=) | 2934 | GSN | Benign | rs73660439 | RCV000909831|RCV001167840; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124089678 | 124089678 | C | T | 9:g.124089678C>T | - | | |
NM_001127666.2(GSN):c.1727C>T (p.Thr576Met) | 2934 | GSN | Benign | rs76463933 | RCV000322979; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124089692 | 124089692 | C | T | 9:g.124089692C>T | ClinGen:CA5221385 | | |
NM_001127666.2(GSN):c.1760C>G (p.Ala587Gly) | 2934 | GSN | Benign | -1 | RCV001167841; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124089725 | 124089725 | C | G | 9:g.124089725C>G | - | | |
NM_001127666.2(GSN):c.1815G>A (p.Leu605=) | 2934 | GSN | Benign | rs139239940 | RCV000381432|RCV000964310; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202 | 9 | 124091188 | 124091188 | G | A | 9:g.124091188G>A | ClinGen:CA5221419 | | |
NM_001127666.2(GSN):c.1883G>T (p.Arg628Leu) | 2934 | GSN | Benign | rs9696578 | RCV000890782|RCV001167842; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124091256 | 124091256 | G | T | 9:g.124091256G>T | - | | |
NM_001127666.2(GSN):c.1907T>C (p.Ile636Thr) | 2934 | GSN | Benign | -1 | RCV001167843; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124091280 | 124091280 | T | C | 9:g.124091280T>C | - | | |
NM_001127666.2(GSN):c.1964C>T (p.Thr655Met) | 2934 | GSN | Benign/Likely benign | rs144434647 | RCV000291668|RCV000891402; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202 | 9 | 124091559 | 124091559 | C | T | 9:g.124091559C>T | ClinGen:CA5221470 | | |
NM_001127666.2(GSN):c.1975A>G (p.Met659Val) | 2934 | GSN | Uncertain significance | rs886063406 | RCV000346533; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124091570 | 124091570 | A | G | 9:g.124091570A>G | ClinGen:CA10632240 | | |
NM_001127666.2(GSN):c.2035G>A (p.Glu679Lys) | 2934 | GSN | Uncertain significance | rs886063407 | RCV000387049; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124093702 | 124093702 | G | A | 9:g.124093702G>A | ClinGen:CA10632241 | | |
NM_001127666.2(GSN):c.2078C>T (p.Thr693Met) | 2934 | GSN | Likely benign | -1 | RCV001169717; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124094730 | 124094730 | C | T | 9:g.124094730C>T | - | | |
NM_198252.3(GSN):c.2046G>A (p.Thr682=) | 2934 | GSN | Benign | rs747385746 | RCV000292978|RCV000924267; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202 | 9 | 124094731 | 124094731 | G | A | 9:g.124094731G>A | ClinGen:CA5221529 | | |
NM_001127666.2(GSN):c.2093G>A (p.Arg698Gln) | 2934 | GSN | Likely benign | -1 | RCV001169718; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124094745 | 124094745 | G | A | 9:g.124094745G>A | - | | |
NM_001127666.2(GSN):c.2102G>A (p.Arg701Gln) | 2934 | GSN | Benign | -1 | RCV001169719; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124094754 | 124094754 | G | A | 9:g.124094754G>A | - | | |
NM_001127666.2(GSN):c.2148T>C (p.Phe716=) | 2934 | GSN | Benign | rs9102 | RCV000352565; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124094800 | 124094800 | T | C | 9:g.124094800T>C | ClinGen:CA5221542 | | |
NM_001127666.2(GSN):c.*28G>A | 2934 | GSN | Uncertain significance | -1 | RCV001169720; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124094909 | 124094909 | G | A | 9:g.124094909G>A | - | | |
NM_001127666.2(GSN):c.*98T>A | 2934 | GSN | Uncertain significance | -1 | RCV001165729; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124094979 | 124094979 | T | A | 9:g.124094979T>A | - | | |
NM_001127666.2(GSN):c.*126T>C | 2934 | GSN | Uncertain significance | rs886063411 | RCV000269863; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124095007 | 124095007 | T | C | 9:g.124095007T>C | ClinGen:CA10632409 | | |
NM_001127666.2(GSN):c.*185G>A | 2934 | GSN | Uncertain significance | rs757682798 | RCV000326004; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124095066 | 124095066 | G | A | 9:g.124095066G>A | ClinGen:CA10632254 | C0002726 Amyloidosis; | |
NM_001127666.2(GSN):c.*194G>A | 2934 | GSN | Uncertain significance | rs886063412 | RCV000385243; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124095075 | 124095075 | G | A | 9:g.124095075G>A | ClinGen:CA10628908 | C0002726 Amyloidosis; | |
NM_001127666.2(GSN):c.*205G>A | 2934 | GSN | Uncertain significance | rs779431879 | RCV000272138; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124095086 | 124095086 | G | A | 9:g.124095086G>A | ClinGen:CA10626355 | C0002726 Amyloidosis; | |