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 | | | NC_000009.11:g.124062104C>T | ClinGen:CA10628892 | C0002726 Amyloidosis; | |
NM_198252.3(GSN):c.-9-2057_-9-2037dup | 2934 | GSN | Uncertain significance | -1 | RCV001958440|RCV002331512|RCV002497842; | N | MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124062172 | 124062173 | | | 124062172 | - | | |
NM_198252.3(GSN):c.-9-2066_-9-2060del | 2934 | GSN | Uncertain significance | rs1564468965 | RCV000779569|RCV001567670; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202 | 9 | 124062173 | 124062179 | | | NC_000009.11:g.124062175_124062181del | - | | |
NM_198252.3(GSN):c.-9-2057_-9-2037del | 2934 | GSN | Uncertain significance | -1 | RCV001928181|RCV002503582; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124062173 | 124062193 | | | 124062172 | - | | |
NM_198252.3(GSN):c.-9-2058_-9-2047dup | 2934 | GSN | Uncertain significance | -1 | RCV002004011|RCV002492335; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124062175 | 124062176 | | | 124062175 | - | | |
NM_198252.3(GSN):c.-9-2043C>G | 2934 | GSN | Uncertain significance | -1 | RCV002050998|RCV002482426; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124062198 | 124062198 | | | 124062198 | - | | |
NM_198252.3(GSN):c.-9-2026C>T | 2934 | GSN | Uncertain significance | rs1048849212 | RCV001169573|RCV001859097; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202 | 9 | 124062215 | 124062215 | | | 9:g.124062215C>T | - | | |
NM_198252.3(GSN):c.-9-2021G>A | 2934 | GSN | Conflicting interpretations of pathogenicity | rs886063405 | RCV000310766|RCV001861339|RCV002429330; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 9 | 124062220 | 124062220 | | | NC_000009.11:g.124062220G>A | ClinGen:CA10632396 | C0002726 Amyloidosis; | |
NM_198252.3(GSN):c.-9-1999_-9-1985del | 2934 | GSN | Uncertain significance | -1 | RCV001904078|RCV002478132|RCV002386611; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MeSH:D030342,MedGen:C0950123 | 9 | 124062235 | 124062249 | | | 124062234 | - | | |
NM_198252.3(GSN):c.-9-1967C>T | 2934 | GSN | Benign/Likely benign | rs372837702 | RCV001169574|RCV001819870|RCV002068043; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN169374|MedGen:CN517202 | 9 | 124062274 | 124062274 | | | 9:g.124062274C>T | - | | |
NM_198252.3(GSN):c.-9-1951G>T | 2934 | GSN | Likely benign | -1 | RCV002137425|RCV002500080; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124062290 | 124062290 | | | 124062290 | - | | |
NM_198252.3(GSN):c.-9-1943G>A | 2934 | GSN | Likely benign | -1 | RCV002163829|RCV002486976; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124062298 | 124062298 | | | 124062298 | - | | |
NM_198252.3(GSN):c.-9-1942G>A | 2934 | GSN | Likely benign | -1 | RCV002137422|RCV002486911; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124062299 | 124062299 | | | 124062299 | - | | |
NM_198252.3(GSN):c.-4C>G | 2934 | GSN | Uncertain significance | rs2059919681 | RCV001169575; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124064246 | 124064246 | | | 9:g.124064246C>G | - | | |
NM_198252.3(GSN):c.7G>T (p.Val3Leu) | 2934 | GSN | Uncertain significance | rs138068754 | RCV001165599|RCV001859065; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202 | 9 | 124064256 | 124064256 | | | 9:g.124064256G>T | - | | |
NM_198252.3(GSN):c.29A>G (p.Lys10Arg) | 2934 | GSN | Benign | rs115224458 | RCV000365448|RCV000956748; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202 | 9 | 124064278 | 124064278 | | | NC_000009.11:g.124064278A>G | ClinGen:CA5220744 | C0002726 Amyloidosis; | |
NM_198252.3(GSN):c.123C>T (p.Gly41=) | 2934 | GSN | Likely benign | rs774617795 | RCV000275412|RCV002436223|RCV002523730; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MeSH:D030342,MedGen:C0950123|MedGen:CN517202 | 9 | 124064372 | 124064372 | | | 9:g.124064372C>T | ClinGen:CA5220768 | C0002726 Amyloidosis; | |
NM_198252.3(GSN):c.126C>T (p.Asp42=) | 2934 | GSN | Likely benign | rs200027070 | RCV001165600|RCV002068006; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202 | 9 | 124064375 | 124064375 | | | 9:g.124064375C>T | - | | |
NM_198252.3(GSN):c.162C>G (p.Asn54Lys) | 2934 | GSN | Uncertain significance | -1 | RCV002045254|RCV002486641; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124064411 | 124064411 | | | 124064411 | - | | |
NM_198252.3(GSN):c.163G>A (p.Gly55Arg) | 2934 | GSN | Benign | rs556563870 | RCV000330487; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124064412 | 124064412 | | | 9:g.124064412G>A | ClinGen:CA5220778 | C0002726 Amyloidosis; | |
NM_198252.3(GSN):c.186C>T (p.His62=) | 2934 | GSN | Benign/Likely benign | -1 | RCV002152275|RCV002500085; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124064435 | 124064435 | | | 124064435 | - | | |
NM_198252.3(GSN):c.196+7C>T | 2934 | GSN | Benign | rs146379508 | RCV000371221|RCV000879016; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202 | 9 | 124064452 | 124064452 | | | 9:g.124064452C>T | ClinGen:CA5220785 | C0002726 Amyloidosis; | |
NM_198252.3(GSN):c.197-4G>A | 2934 | GSN | Benign/Likely benign | -1 | RCV002162160|RCV002337185|RCV002498121; | N | MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124065185 | 124065185 | | | 124065185 | - | | |
NM_198252.3(GSN):c.228G>A (p.Ala76=) | 2934 | GSN | Conflicting interpretations of pathogenicity | rs761824852 | RCV001165601|RCV002068007; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202 | 9 | 124065220 | 124065220 | | | 9:g.124065220G>A | - | | |
NM_198252.3(GSN):c.231C>A (p.Ala77=) | 2934 | GSN | Benign | rs140734150 | RCV001165602; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124065223 | 124065223 | | | 9:g.124065223C>A | - | | |
NM_198252.3(GSN):c.232G>A (p.Ala78Thr) | 2934 | GSN | Benign | rs2230287 | RCV000276675|RCV001692064; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202 | 9 | 124065224 | 124065224 | | | 9:g.124065224G>A | ClinGen:CA5220812,UniProtKB:P06396#VAR_024690 | C0002726 Amyloidosis; | |
NM_198252.3(GSN):c.235A>C (p.Ile79Leu) | 2934 | GSN | Uncertain significance | -1 | RCV002031488|RCV002361416|RCV002479827; | N | MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124065227 | 124065227 | | | 124065227 | - | | |
NM_198252.3(GSN):c.243C>T (p.Thr81=) | 2934 | GSN | Benign/Likely benign | rs116956127 | RCV000317499|RCV000881338|RCV001821110|RCV002374605; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202|MedGen:CN169374|MeSH:D030342,MedGen:C0950123 | 9 | 124065235 | 124065235 | | | 9:g.124065235C>T | ClinGen:CA5220815 | C0002726 Amyloidosis; | |
NM_198252.3(GSN):c.271C>T (p.Arg91Trp) | 2934 | GSN | Conflicting interpretations of pathogenicity | rs146956976 | RCV000372173|RCV001865245|RCV002328888; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 9 | 124065263 | 124065263 | | | 9:g.124065263C>T | ClinGen:CA5220824 | C0002726 Amyloidosis; | |
NM_198252.3(GSN):c.272G>A (p.Arg91Gln) | 2934 | GSN | Uncertain significance | -1 | RCV002026059|RCV002331624|RCV002492369; | N | MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124065264 | 124065264 | | | 124065264 | - | | |
NM_198252.3(GSN):c.276C>T (p.Ala92=) | 2934 | GSN | Likely benign | rs548138013 | RCV000914646|RCV002495516; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124065268 | 124065268 | | | 9:g.124065268C>T | - | | |
NM_198252.3(GSN):c.285C>T (p.His95=) | 2934 | GSN | Likely benign | -1 | RCV002147871|RCV002500097; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124065277 | 124065277 | | | 124065277 | - | | |
NM_198252.3(GSN):c.303C>T (p.Phe101=) | 2934 | GSN | Likely benign | -1 | RCV002108823|RCV002500155; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124065295 | 124065295 | | | 124065295 | - | | |
NM_198252.3(GSN):c.322G>A (p.Gly108Ser) | 2934 | GSN | Uncertain significance | -1 | RCV001973981|RCV002484901; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124065314 | 124065314 | | | 124065314 | - | | |
NM_198252.3(GSN):c.382G>A (p.Val128Met) | 2934 | GSN | Benign | rs41305623 | RCV000282194|RCV000957620|RCV001821111; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202|MedGen:CN169374 | 9 | 124072992 | 124072992 | | | NC_000009.11:g.124072992G>A | ClinGen:CA5220873 | C0002726 Amyloidosis; | |
NM_198252.3(GSN):c.393C>T (p.Asn131=) | 2934 | GSN | Likely benign | rs186654124 | RCV000895499|RCV002501499; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124073003 | 124073003 | | | 9:g.124073003C>T | - | | |
NM_198252.3(GSN):c.397G>T (p.Val133Leu) | 2934 | GSN | Uncertain significance | -1 | RCV001928371|RCV002490276|RCV002344024; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MeSH:D030342,MedGen:C0950123 | 9 | 124073007 | 124073007 | | | 124073007 | - | | |
NM_198252.3(GSN):c.397G>A (p.Val133Met) | 2934 | GSN | Conflicting interpretations of pathogenicity | -1 | RCV001898733|RCV002343999|RCV002490214; | N | MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124073007 | 124073007 | | | 124073007 | - | | |
NM_198252.3(GSN):c.427G>A (p.Gly143Arg) | 2934 | GSN | Conflicting interpretations of pathogenicity | rs750132751 | RCV001167187|RCV001873548; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202 | 9 | 124073037 | 124073037 | | | 9:g.124073037G>A | - | | |
NM_198252.3(GSN):c.431G>A (p.Arg144Gln) | 2934 | GSN | Likely benign | -1 | RCV002170312|RCV002352789|RCV002507872; | N | MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124073041 | 124073041 | | | 124073041 | - | | |
NM_198252.3(GSN):c.440T>C (p.Val147Ala) | 2934 | GSN | Uncertain significance | rs2061027102 | RCV001167188; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124073050 | 124073050 | | | 9:g.124073050T>C | - | | |
NM_198252.3(GSN):c.484G>A (p.Gly162Ser) | 2934 | GSN | Uncertain significance | -1 | RCV001989851|RCV002492099; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124073094 | 124073094 | | | 124073094 | - | | |
NM_198252.3(GSN):c.487G>A (p.Asp163Asn) | 2934 | GSN | Pathogenic | rs121909715 | RCV000017564|RCV000489240|RCV002362587; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 9 | 124073097 | 124073097 | | | 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/Likely pathogenic | rs121909715 | RCV000017565; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124073097 | 124073097 | | | 9:g.124073097G>T | ClinGen:CA250654,OMIM:137350.0002 | C1622345 105120 Meretoja syndrome; | |
NM_198252.3(GSN):c.509G>C (p.Gly170Ala) | 2934 | GSN | Uncertain significance | rs2061035565 | RCV001167189; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124073119 | 124073119 | | | 9:g.124073119G>C | - | | |
NM_198252.3(GSN):c.513C>T (p.Asn171=) | 2934 | GSN | Conflicting interpretations of pathogenicity | -1 | RCV001967744|RCV002484711|RCV002361274; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MeSH:D030342,MedGen:C0950123 | 9 | 124073123 | 124073123 | | | 124073123 | - | | |
NM_198252.3(GSN):c.513+1G>A | 2934 | GSN | Uncertain significance | -1 | RCV001942763|RCV002490025; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124073124 | 124073124 | | | 124073124 | - | | |
NM_198252.3(GSN):c.513+19T>C | 2934 | GSN | Benign/Likely benign | -1 | RCV002119578|RCV002507981; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124073142 | 124073142 | | | 124073142 | - | | |
NM_198252.3(GSN):c.538A>G (p.Asn180Asp) | 2934 | GSN | Benign | rs11550199 | RCV000961960|RCV001167190; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124074641 | 124074641 | | | 9:g.124074641A>G | - | | |
NM_198252.3(GSN):c.546T>G (p.Asn182Lys) | 2934 | GSN | Uncertain significance | rs752698745 | RCV000318498|RCV002523731; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202 | 9 | 124074649 | 124074649 | | | NC_000009.11:g.124074649T>G | ClinGen:CA5220934 | C0002726 Amyloidosis; | |
NM_198252.3(GSN):c.547C>T (p.Arg183Trp) | 2934 | GSN | Conflicting interpretations of pathogenicity | rs371175865 | RCV001167762|RCV002365818|RCV002558654; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MeSH:D030342,MedGen:C0950123|MedGen:CN517202 | 9 | 124074650 | 124074650 | | | 9:g.124074650C>T | - | | |
NM_198252.3(GSN):c.597C>T (p.Asn199=) | 2934 | GSN | Benign/Likely benign | rs146329975 | RCV000967138|RCV002505460; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124074700 | 124074700 | | | 9:g.124074700C>T | - | | |
NM_198252.3(GSN):c.602G>A (p.Arg201Gln) | 2934 | GSN | Uncertain significance | -1 | RCV002016213|RCV002492348; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124074705 | 124074705 | | | 124074705 | - | | |
NM_198252.3(GSN):c.616C>T (p.Arg206Ter) | 2934 | GSN | Uncertain significance | -1 | RCV001508266|RCV002488308; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124074719 | 124074719 | | | 124074719 | - | | |
NM_198252.3(GSN):c.638G>A (p.Gly213Asp) | 2934 | GSN | Uncertain significance | -1 | RCV001987444|RCV002479540|RCV002563422; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MeSH:D030342,MedGen:C0950123 | 9 | 124074741 | 124074741 | | | 124074741 | - | | |
NM_198252.3(GSN):c.664-4A>G | 2934 | GSN | Benign/Likely benign | rs143590302 | RCV000890781|RCV001167763; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124076208 | 124076208 | | | 9:g.124076208A>G | - | | |
NM_198252.3(GSN):c.692C>T (p.Ala231Val) | 2934 | GSN | Uncertain significance | -1 | RCV001887712|RCV002489956; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124076240 | 124076240 | | | 124076240 | - | | |
NM_198252.3(GSN):c.723G>A (p.Ala241=) | 2934 | GSN | Likely benign | rs377624593 | RCV000378084|RCV002374606; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MeSH:D030342,MedGen:C0950123 | 9 | 124076271 | 124076271 | | | NC_000009.11:g.124076271G>A | ClinGen:CA5221008 | C0002726 Amyloidosis; | |
NM_198252.3(GSN):c.741C>T (p.Ala247=) | 2934 | GSN | Likely benign | -1 | RCV002120149|RCV002494259; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124076289 | 124076289 | | | 124076289 | - | | |
NM_198252.3(GSN):c.753+1G>A | 2934 | GSN | Uncertain significance | -1 | RCV002307768|RCV002051081|RCV002370360|RCV002489927; | N | MedGen:CN169374|MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124076302 | 124076302 | | | 124076302 | - | | |
NM_198252.3(GSN):c.754-11C>T | 2934 | GSN | Benign | rs374057474 | RCV001167764|RCV002068028; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202 | 9 | 124079353 | 124079353 | | | 9:g.124079353C>T | - | | |
NM_198252.3(GSN):c.754-8C>T | 2934 | GSN | Likely benign | -1 | RCV002189706|RCV002507885; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124079356 | 124079356 | | | 124079356 | - | | |
NM_198252.3(GSN):c.761A>G (p.Asn254Ser) | 2934 | GSN | Uncertain significance | -1 | RCV001988793|RCV002492278; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124079371 | 124079371 | | | 124079371 | - | | |
NM_198252.3(GSN):c.776T>C (p.Met259Thr) | 2934 | GSN | Uncertain significance | -1 | RCV001929542|RCV002507597; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124079386 | 124079386 | | | 124079386 | - | | |
NM_198252.3(GSN):c.781G>A (p.Val261Ile) | 2934 | GSN | Uncertain significance | rs745588757 | RCV000283584|RCV002481255|RCV002523732; | N | Human Phenotype Ontology:HP:0011034,MONDO:MONDO:0019065,MedGen:C0002726, Orphanet:69|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202 | 9 | 124079391 | 124079391 | | | NC_000009.11:g.124079391G>A | ClinGen:CA5221046 | C0002726 Amyloidosis; | |
NM_198252.3(GSN):c.811G>A (p.Ala271Thr) | 2934 | GSN | Uncertain significance | -1 | RCV001875508|RCV002482686; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124079421 | 124079421 | | | 124079421 | - | | |
NM_198252.3(GSN):c.856G>A (p.Gly286Ser) | 2934 | GSN | Conflicting interpretations of pathogenicity | -1 | RCV002020059|RCV002492322|RCV002657672; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MeSH:D030342,MedGen:C0950123 | 9 | 124079466 | 124079466 | | | 124079466 | - | | |
NM_198252.3(GSN):c.886+10A>G | 2934 | GSN | Likely benign | -1 | RCV002189876|RCV002498180; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124079506 | 124079506 | | | 124079506 | - | | |
NM_198252.3(GSN):c.886+12A>C | 2934 | GSN | Conflicting interpretations of pathogenicity | rs201952723 | RCV001167765|RCV002558655; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202 | 9 | 124079508 | 124079508 | | | 9:g.124079508A>C | - | | |
NM_198252.3(GSN):c.886+19G>T | 2934 | GSN | Benign/Likely benign | -1 | RCV002187546|RCV002498176; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124079515 | 124079515 | | | 124079515 | - | | |
NM_198252.3(GSN):c.886+19G>A | 2934 | GSN | Likely benign | -1 | RCV002189025|RCV002505866; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124079515 | 124079515 | | | 124079515 | - | | |
NM_198252.3(GSN):c.914A>G (p.Lys305Arg) | 2934 | GSN | Uncertain significance | rs2061970047 | RCV001167766; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124080711 | 124080711 | | | 9:g.124080711A>G | - | | |
NM_198252.3(GSN):c.989C>T (p.Pro330Leu) | 2934 | GSN | Uncertain significance | -1 | RCV001900247|RCV002490071; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124080956 | 124080956 | | | 124080956 | - | | |
NM_198252.3(GSN):c.997G>A (p.Gly333Ser) | 2934 | GSN | Uncertain significance | -1 | RCV001727485|RCV002488485|RCV002343804; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MeSH:D030342,MedGen:C0950123 | 9 | 124080964 | 124080964 | | | 124080964 | - | | |
NM_198252.3(GSN):c.998G>T (p.Gly333Val) | 2934 | GSN | Uncertain significance | rs1014328091 | RCV001167767; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124080965 | 124080965 | | | 9:g.124080965G>T | - | | |
NM_198252.3(GSN):c.1009C>T (p.Leu337=) | 2934 | GSN | Benign/Likely benign | rs528161256 | RCV000918206|RCV001253934; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124080976 | 124080976 | | | 9:g.124080976C>T | - | | |
NM_198252.3(GSN):c.1037G>A (p.Arg346Gln) | 2934 | GSN | Uncertain significance | rs372681751 | RCV000343155|RCV002348120|RCV002523733; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MeSH:D030342,MedGen:C0950123|MedGen:CN517202 | 9 | 124081004 | 124081004 | | | NC_000009.11:g.124081004G>A | ClinGen:CA5221125 | C0002726 Amyloidosis; | |
NM_198252.3(GSN):c.1096G>A (p.Val366Met) | 2934 | GSN | Conflicting interpretations of pathogenicity | -1 | RCV001881581|RCV002397844|RCV002482682; | N | MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124081063 | 124081063 | | | 124081063 | - | | |
NM_198252.3(GSN):c.1098G>A (p.Val366=) | 2934 | GSN | Benign/Likely benign | rs201325199 | RCV000397866|RCV002411260|RCV002061311; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MeSH:D030342,MedGen:C0950123|MedGen:CN517202 | 9 | 124081065 | 124081065 | | | NC_000009.11:g.124081065G>A | ClinGen:CA5221145 | C0002726 Amyloidosis; | |
NM_198252.3(GSN):c.1103G>A (p.Arg368Gln) | 2934 | GSN | Uncertain significance | -1 | RCV002022738|RCV002486645|RCV002423235; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MeSH:D030342,MedGen:C0950123 | 9 | 124081070 | 124081070 | | | 124081070 | - | | |
NM_198252.3(GSN):c.1170C>T (p.Asp390=) | 2934 | GSN | Benign/Likely benign | rs147583697 | RCV000288952|RCV000921208|RCV002379251; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 9 | 124081137 | 124081137 | | | NC_000009.11:g.124081137C>T | ClinGen:CA5221157 | C0002726 Amyloidosis; | |
NM_198252.3(GSN):c.1171G>A (p.Asp391Asn) | 2934 | GSN | Conflicting interpretations of pathogenicity | rs142034230 | RCV001254007|RCV001879877|RCV002379957; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 9 | 124081138 | 124081138 | | | 9:g.124081138G>A | - | | |
NM_198252.3(GSN):c.1190A>G (p.Gln397Arg) | 2934 | GSN | Uncertain significance | -1 | RCV001996958|RCV002386803|RCV002484769; | N | MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124081157 | 124081157 | | | 124081157 | - | | |
NM_198252.3(GSN):c.1191+4C>T | 2934 | GSN | Conflicting interpretations of pathogenicity | rs372713895 | RCV000343885|RCV002379252|RCV001865246; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MeSH:D030342,MedGen:C0950123|MedGen:CN517202 | 9 | 124081162 | 124081162 | | | NC_000009.11:g.124081162C>T | ClinGen:CA5221164 | C0002726 Amyloidosis; | |
NM_198252.3(GSN):c.1191+14G>A | 2934 | GSN | Benign/Likely benign | rs377308627 | RCV001254008|RCV002570551; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202 | 9 | 124081172 | 124081172 | | | 9:g.124081172G>A | - | | |
NM_198252.3(GSN):c.1204G>A (p.Glu402Lys) | 2934 | GSN | Uncertain significance | -1 | RCV002029848|RCV002386588|RCV002489911; | N | MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124083558 | 124083558 | | | 124083558 | - | | |
NM_198252.3(GSN):c.1225G>A (p.Val409Met) | 2934 | GSN | Benign/Likely benign | rs140042418 | RCV000390100|RCV001729569|RCV002379253; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 9 | 124083579 | 124083579 | | | NC_000009.11:g.124083579G>A | ClinGen:CA5221194 | C0002726 Amyloidosis; | |
NM_198252.3(GSN):c.1239A>G (p.Thr413=) | 2934 | GSN | Benign/Likely benign | rs149375418 | RCV000308967|RCV000956749|RCV001796018|RCV002392923; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202|MedGen:CN169374|MeSH:D030342,MedGen:C0950123 | 9 | 124083593 | 124083593 | | | NC_000009.11:g.124083593A>G | ClinGen:CA5221197 | C0002726 Amyloidosis; | |
NM_198252.3(GSN):c.1260C>T (p.Gly420=) | 2934 | GSN | Benign | rs2304393 | RCV000349867|RCV001643104; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202 | 9 | 124083614 | 124083614 | | | NC_000009.11:g.124083614C>T | ClinGen:CA5221200 | C0002726 Amyloidosis; | |
NM_198252.3(GSN):c.1267T>C (p.Tyr423His) | 2934 | GSN | Pathogenic | -1 | RCV003138161; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124083621 | 124083621 | | | NC_000009.11:g.124083621T>C | - | | |
NM_198252.3(GSN):c.1288C>T (p.Arg430Cys) | 2934 | GSN | Benign/Likely benign | rs116185403 | RCV000398476|RCV000882012|RCV002392924|RCV001821112; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MedGen:CN169374 | 9 | 124083642 | 124083642 | | | NC_000009.11:g.124083642C>T | ClinGen:CA5221203 | C0002726 Amyloidosis; | |
NM_198252.3(GSN):c.1324T>C (p.Trp442Arg) | 2934 | GSN | Uncertain significance | rs2062427908 | RCV001265608; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124083678 | 124083678 | | | 9:g.124083678T>C | - | | |
NM_198252.3(GSN):c.1325+14G>A | 2934 | GSN | Likely benign | -1 | RCV002138777|RCV002505811; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124083693 | 124083693 | | | 124083693 | - | | |
NM_198252.3(GSN):c.1416+16C>T | 2934 | GSN | Benign/Likely benign | -1 | RCV002129502|RCV002494264; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124086938 | 124086938 | | | 124086938 | - | | |
NM_198252.3(GSN):c.1416+17G>A | 2934 | GSN | Likely benign | -1 | RCV002204324|RCV002500442; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124086939 | 124086939 | | | 124086939 | - | | |
NM_198252.3(GSN):c.1417-22T>C | 2934 | GSN | Benign | -1 | RCV001688706|RCV001703056; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124088768 | 124088768 | | | 124088768 | - | | |
NM_198252.3(GSN):c.1417A>G (p.Ser473Gly) | 2934 | GSN | Uncertain significance | -1 | RCV001866446|RCV002482455; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124088790 | 124088790 | | | 124088790 | - | | |
NM_198252.3(GSN):c.1420C>T (p.Arg474Cys) | 2934 | GSN | Uncertain significance | -1 | RCV001947460|RCV002478165; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124088793 | 124088793 | | | 124088793 | - | | |
NM_198252.3(GSN):c.1421G>A (p.Arg474His) | 2934 | GSN | Conflicting interpretations of pathogenicity | rs142828669 | RCV000314461|RCV001850932|RCV002402079; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 9 | 124088794 | 124088794 | | | NC_000009.11:g.124088794G>A | ClinGen:CA5221247 | C0002726 Amyloidosis; | |
NM_198252.3(GSN):c.1423G>T (p.Val475Leu) | 2934 | GSN | Conflicting interpretations of pathogenicity | rs766945413 | RCV001165663|RCV002393377|RCV002559587; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MeSH:D030342,MedGen:C0950123|MedGen:CN517202 | 9 | 124088796 | 124088796 | | | 9:g.124088796G>T | - | | |
NM_198252.3(GSN):c.1441C>A (p.Pro481Thr) | 2934 | GSN | Uncertain significance | -1 | RCV001923231|RCV002503578; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124088814 | 124088814 | | | 124088814 | - | | |
NM_198252.3(GSN):c.1443C>T (p.Pro481=) | 2934 | GSN | Benign/Likely benign | rs200156774 | RCV000938536|RCV001165664; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124088816 | 124088816 | | | 9:g.124088816C>T | - | | |
NM_198252.3(GSN):c.1444G>A (p.Ala482Thr) | 2934 | GSN | Conflicting interpretations of pathogenicity | -1 | RCV001942791|RCV002490026|RCV002397804; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MeSH:D030342,MedGen:C0950123 | 9 | 124088817 | 124088817 | | | 124088817 | - | | |
NM_198252.3(GSN):c.1485C>T (p.Ile495=) | 2934 | GSN | Benign/Likely benign | -1 | RCV002105644|RCV002494238; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124088858 | 124088858 | | | 124088858 | - | | |
NM_198252.3(GSN):c.1487A>G (p.Tyr496Cys) | 2934 | GSN | Benign/Likely benign | rs139832048 | RCV000369097|RCV002061312|RCV002402080; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 9 | 124088860 | 124088860 | | | NC_000009.11:g.124088860A>G | ClinGen:CA5221261 | C0002726 Amyloidosis; | |
NM_198252.3(GSN):c.1506C>T (p.Arg502=) | 2934 | GSN | Uncertain significance | -1 | RCV002041380|RCV002482400; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124088879 | 124088879 | | | 124088879 | - | | |
NM_198252.3(GSN):c.1507G>A (p.Glu503Lys) | 2934 | GSN | Uncertain significance | -1 | RCV001945059|RCV002484483|RCV002556363; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MeSH:D030342,MedGen:C0950123 | 9 | 124088880 | 124088880 | | | 124088880 | - | | |
NM_198252.3(GSN):c.1513G>A (p.Gly505Arg) | 2934 | GSN | Benign/Likely benign | rs58750568 | RCV000260878|RCV002402081|RCV002061313; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MeSH:D030342,MedGen:C0950123|MedGen:CN517202 | 9 | 124088886 | 124088886 | | | NC_000009.11:g.124088886G>A | ClinGen:CA5221273 | C0002726 Amyloidosis; | |
NM_198252.3(GSN):c.1535C>G (p.Thr512Ser) | 2934 | GSN | Benign | rs77681311 | RCV000297409|RCV002058767; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202 | 9 | 124088908 | 124088908 | | | NC_000009.11:g.124088908C>G | ClinGen:CA5221281 | C0002726 Amyloidosis; | |
NM_198252.3(GSN):c.1538G>A (p.Arg513His) | 2934 | GSN | Conflicting interpretations of pathogenicity | -1 | RCV001938852|RCV002484617|RCV002397935; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MeSH:D030342,MedGen:C0950123 | 9 | 124088911 | 124088911 | | | 124088911 | - | | |
NM_198252.3(GSN):c.1547A>G (p.Gln516Arg) | 2934 | GSN | Uncertain significance | rs780840732 | RCV001167255; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124088920 | 124088920 | | | 9:g.124088920A>G | - | | |
NM_198252.3(GSN):c.1553G>A (p.Arg518His) | 2934 | GSN | Uncertain significance | rs769400986 | RCV000356817; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124088926 | 124088926 | | | NC_000009.11:g.124088926G>A | ClinGen:CA5221286 | C0002726 Amyloidosis; | |
NM_198252.3(GSN):c.1555G>A (p.Ala519Thr) | 2934 | GSN | Conflicting interpretations of pathogenicity | rs147554026 | RCV000262080|RCV001531107|RCV002402082; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 9 | 124088928 | 124088928 | | | NC_000009.11:g.124088928G>A | ClinGen:CA5221288 | C0002726 Amyloidosis; | |
NM_198252.3(GSN):c.1563C>T (p.Ser521=) | 2934 | GSN | Benign/Likely benign | rs140414249 | RCV000321730|RCV002402083|RCV002058768; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MeSH:D030342,MedGen:C0950123|MedGen:CN517202 | 9 | 124088936 | 124088936 | | | NC_000009.11:g.124088936C>T | ClinGen:CA5221289 | C0002726 Amyloidosis; | |
NM_198252.3(GSN):c.1576C>T (p.Arg526Trp) | 2934 | GSN | Uncertain significance | -1 | RCV001903197|RCV002490171; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124088949 | 124088949 | | | 124088949 | - | | |
NM_198252.3(GSN):c.1577G>A (p.Arg526Gln) | 2934 | GSN | Conflicting interpretations of pathogenicity | rs528604896 | RCV000376344|RCV002523734|RCV002402084; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 9 | 124088950 | 124088950 | | | NC_000009.11:g.124088950G>A | ClinGen:CA5221290 | C0002726 Amyloidosis; | |
NM_198252.3(GSN):c.1585G>A (p.Glu529Lys) | 2934 | GSN | Uncertain significance | rs2063220897 | RCV001196370; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124088958 | 124088958 | | | 9:g.124088958G>A | - | | |
NM_198252.3(GSN):c.1637A>G (p.Lys546Arg) | 2934 | GSN | Benign/Likely benign | -1 | RCV002186915|RCV002498155; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124089635 | 124089635 | | | 124089635 | - | | |
NM_198252.3(GSN):c.1651G>A (p.Ala551Thr) | 2934 | GSN | Conflicting interpretations of pathogenicity | rs777955781 | RCV001167256|RCV001873550; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202 | 9 | 124089649 | 124089649 | | | 9:g.124089649G>A | - | | |
NM_198252.3(GSN):c.1657C>G (p.Leu553Val) | 2934 | GSN | Uncertain significance | rs2063344146 | RCV001167257; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124089655 | 124089655 | | | 9:g.124089655C>G | - | | |
NM_198252.3(GSN):c.1663G>A (p.Val555Met) | 2934 | GSN | Benign/Likely benign | rs151208452 | RCV000267836|RCV000908629|RCV001821113|RCV002411261; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202|MedGen:CN169374|MeSH:D030342,MedGen:C0950123 | 9 | 124089661 | 124089661 | | | NC_000009.11:g.124089661G>A | ClinGen:CA5221375 | C0002726 Amyloidosis; | |
NM_198252.3(GSN):c.1680C>T (p.Ser560=) | 2934 | GSN | Benign | rs73660439 | RCV000909831|RCV001167840; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124089678 | 124089678 | | | 9:g.124089678C>T | - | | |
NM_198252.3(GSN):c.1690A>G (p.Lys564Glu) | 2934 | GSN | Uncertain significance | -1 | RCV002479644|RCV002018941; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202 | 9 | 124089688 | 124089688 | | | 124089688 | - | | |
NM_198252.3(GSN):c.1694C>T (p.Thr565Met) | 2934 | GSN | Benign | rs76463933 | RCV000322979|RCV001683444; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202 | 9 | 124089692 | 124089692 | | | NC_000009.11:g.124089692C>T | ClinGen:CA5221385 | C0002726 Amyloidosis; | |
NM_198252.3(GSN):c.1727C>G (p.Ala576Gly) | 2934 | GSN | Benign/Likely benign | rs567372749 | RCV001167841|RCV002067824|RCV002411660; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 9 | 124089725 | 124089725 | | | 9:g.124089725C>G | - | | |
NM_198252.3(GSN):c.1762G>T (p.Asp588Tyr) | 2934 | GSN | Conflicting interpretations of pathogenicity | -1 | RCV002407240|RCV002507753|RCV002008224; | N | MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202 | 9 | 124089760 | 124089760 | | | 124089760 | - | | |
NM_198252.3(GSN):c.1762+20del | 2934 | GSN | Benign/Likely benign | -1 | RCV002079210|RCV002494336; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124089775 | 124089775 | | | 124089774 | - | | |
NM_198252.3(GSN):c.1762+19G>A | 2934 | GSN | Likely benign | -1 | RCV002500259|RCV002134067; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202 | 9 | 124089779 | 124089779 | | | 124089779 | - | | |
NM_198252.3(GSN):c.1763-34G>A | 2934 | GSN | Benign | -1 | RCV001655442|RCV001702946; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124091135 | 124091135 | | | 124091135 | - | | |
NM_198252.3(GSN):c.1763-10C>T | 2934 | GSN | Likely benign | -1 | RCV002099253|RCV002500139; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124091159 | 124091159 | | | 124091159 | - | | |
NM_198252.3(GSN):c.1782G>A (p.Leu594=) | 2934 | GSN | Benign/Likely benign | rs139239940 | RCV000381432|RCV000964310|RCV002411262|RCV001821114; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MedGen:CN169374 | 9 | 124091188 | 124091188 | | | NC_000009.11:g.124091188G>A | ClinGen:CA5221419 | C0002726 Amyloidosis; | |
NM_198252.3(GSN):c.1850G>T (p.Arg617Leu) | 2934 | GSN | Benign | rs9696578 | RCV000890782|RCV001167842; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124091256 | 124091256 | | | 9:g.124091256G>T | - | | |
NM_198252.3(GSN):c.1850G>A (p.Arg617His) | 2934 | GSN | Uncertain significance | -1 | RCV001931420|RCV002484621; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124091256 | 124091256 | | | 124091256 | - | | |
NM_198252.3(GSN):c.1870A>G (p.Lys624Glu) | 2934 | GSN | Uncertain significance | -1 | RCV001990094|RCV002484788; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124091276 | 124091276 | | | 124091276 | - | | |
NM_198252.3(GSN):c.1874T>C (p.Ile625Thr) | 2934 | GSN | Benign | rs777767455 | RCV001167843; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124091280 | 124091280 | | | 9:g.124091280T>C | - | | |
NM_198252.3(GSN):c.1880G>A (p.Arg627His) | 2934 | GSN | Uncertain significance | -1 | RCV002031375|RCV002423285|RCV002492401; | N | MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124091286 | 124091286 | | | 124091286 | - | | |
NM_198252.3(GSN):c.1887+11G>T | 2934 | GSN | Benign/Likely benign | -1 | RCV002083763|RCV002486856; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124091304 | 124091304 | | | 124091304 | - | | |
NM_198252.3(GSN):c.1915C>T (p.Gln639Ter) | 2934 | GSN | Uncertain significance | -1 | RCV002037191|RCV002506867; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124091543 | 124091543 | | | 124091543 | - | | |
NM_198252.3(GSN):c.1931C>T (p.Thr644Met) | 2934 | GSN | Benign/Likely benign | rs144434647 | RCV000291668|RCV000891402|RCV002418218; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 9 | 124091559 | 124091559 | | | NC_000009.11:g.124091559C>T | ClinGen:CA5221470 | C0002726 Amyloidosis; | |
NM_198252.3(GSN):c.1932G>A (p.Thr644=) | 2934 | GSN | Benign/Likely benign | -1 | RCV002117891|RCV002508017; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124091560 | 124091560 | | | 124091560 | - | | |
NM_198252.3(GSN):c.1939G>A (p.Val647Ile) | 2934 | GSN | Uncertain significance | -1 | RCV002023079|RCV002423259|RCV002479783; | N | MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124091567 | 124091567 | | | 124091567 | - | | |
NM_198252.3(GSN):c.1942A>G (p.Met648Val) | 2934 | GSN | Uncertain significance | rs886063406 | RCV000346533; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124091570 | 124091570 | | | NC_000009.11:g.124091570A>G | ClinGen:CA10632240 | C0002726 Amyloidosis; | |
NM_198252.3(GSN):c.2002G>A (p.Glu668Lys) | 2934 | GSN | Uncertain significance | rs886063407 | RCV000387049; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124093702 | 124093702 | | | NC_000009.11:g.124093702G>A | ClinGen:CA10632241 | C0002726 Amyloidosis; | |
NM_198252.3(GSN):c.2040C>T (p.Ile680=) | 2934 | GSN | Likely benign | -1 | RCV002100031|RCV002498328; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124094725 | 124094725 | | | 124094725 | - | | |
NM_198252.3(GSN):c.2041G>A (p.Glu681Lys) | 2934 | GSN | Uncertain significance | -1 | RCV001876394|RCV002425114|RCV002482462; | N | MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124094726 | 124094726 | | | 124094726 | - | | |
NM_198252.3(GSN):c.2045C>T (p.Thr682Met) | 2934 | GSN | Likely benign | rs142854368 | RCV001169717|RCV002068044|RCV002418599; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 9 | 124094730 | 124094730 | | | 9:g.124094730C>T | - | | |
NM_198252.3(GSN):c.2046G>A (p.Thr682=) | 2934 | GSN | Benign/Likely benign | rs747385746 | RCV000292978|RCV000924267|RCV002429331; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 9 | 124094731 | 124094731 | | | NC_000009.11:g.124094731G>A | ClinGen:CA5221529 | C0002726 Amyloidosis; | |
NM_198252.3(GSN):c.2060G>A (p.Arg687Gln) | 2934 | GSN | Conflicting interpretations of pathogenicity | rs770023727 | RCV001169718|RCV002558691; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202 | 9 | 124094745 | 124094745 | | | 9:g.124094745G>A | - | | |
NM_198252.3(GSN):c.2065C>T (p.Arg689Trp) | 2934 | GSN | Uncertain significance | -1 | RCV001960334|RCV002492055; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124094750 | 124094750 | | | 124094750 | - | | |
NM_198252.3(GSN):c.2069G>A (p.Arg690Gln) | 2934 | GSN | Conflicting interpretations of pathogenicity | rs141510612 | RCV001169719|RCV001859099|RCV002559627; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202|MeSH:D030342,MedGen:C0950123 | 9 | 124094754 | 124094754 | | | 9:g.124094754G>A | - | | |
NM_198252.3(GSN):c.2082C>T (p.Thr694=) | 2934 | GSN | Likely benign | -1 | RCV002073604|RCV002507930; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124094767 | 124094767 | | | 124094767 | - | | |
NM_198252.3(GSN):c.2115T>C (p.Phe705=) | 2934 | GSN | Benign | rs9102 | RCV000352565|RCV001595002; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202 | 9 | 124094800 | 124094800 | | | NC_000009.11:g.124094800T>C | ClinGen:CA5221542 | C0002726 Amyloidosis; | |
NM_198252.3(GSN):c.2137del (p.Asp713fs) | 2934 | GSN | Uncertain significance | -1 | RCV001883190|RCV002490081; | N | MedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124094820 | 124094820 | | | 124094819 | - | | |
NM_198252.3(GSN):c.*28G>A | 2934 | GSN | Uncertain significance | rs376801564 | RCV001169720; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124094909 | 124094909 | | | 9:g.124094909G>A | - | | |
NM_198252.3(GSN):c.*98T>A | 2934 | GSN | Uncertain significance | rs903037306 | RCV001165729; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124094979 | 124094979 | | | 9:g.124094979T>A | - | | |
NM_198252.3(GSN):c.*126T>C | 2934 | GSN | Uncertain significance | rs886063411 | RCV000269863; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124095007 | 124095007 | | | NC_000009.11:g.124095007T>C | ClinGen:CA10632409 | C0002726 Amyloidosis; | |
NM_198252.3(GSN):c.*185G>A | 2934 | GSN | Uncertain significance | rs757682798 | RCV000326004; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124095066 | 124095066 | | | 9:g.124095066G>A | ClinGen:CA10632254 | C0002726 Amyloidosis; | |
NM_198252.3(GSN):c.*194G>A | 2934 | GSN | Uncertain significance | rs886063412 | RCV000385243; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124095075 | 124095075 | | | 9:g.124095075G>A | ClinGen:CA10628908 | C0002726 Amyloidosis; | |
NM_198252.3(GSN):c.*205G>A | 2934 | GSN | Uncertain significance | rs779431879 | RCV000272138; | N | MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448 | 9 | 124095086 | 124095086 | | | 9:g.124095086G>A | ClinGen:CA10626355 | C0002726 Amyloidosis; | |