MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
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Amyloidosis (D000686)
Parent Node:
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Corneal Dystrophies, Hereditary (D003317)
..Starting node
..expand
Meretoja syndrome (C537459)

       Child Nodes:



 Sister Nodes: 
..expandBietti Crystalline Dystrophy (C535440)
..expandBrachymesomelia renal syndrome (C537096)
..expandChorioretinal atrophy, progressive bifocal (C535356)
..expandCongenital Corneal Opacities, Cornea Guttata, and Corectopia (C563921)
..expandCorneal cerebellar syndrome (C535472)
..expandCorneal Degeneration, Ribbonlike, with Deafness (C565157)
..expandCorneal dystrophy and perceptive deafness (C535473)
..expandCorneal dystrophy Avellino type (C535474)
..expandCorneal dystrophy of Bowman layer, type 1 (C535476)
..expandCorneal Dystrophy, Band-Shaped (C562399)
..expandCorneal Dystrophy, Central Type (C563262)
..expandCorneal Dystrophy, Congenital Stromal (C566452)
..expandCorneal Dystrophy, Crystalline, of Schnyder (C535475)
..expandCorneal Dystrophy, Endothelial, X-Linked (C567587)
..expandCorneal Dystrophy, Fleck (C563256)
..expandCorneal dystrophy, gelatinous drop-like (C535480)
..expandCorneal Dystrophy, Juvenile Epithelial of Meesmann (D053559)
..expandCorneal Dystrophy, Lattice Type IIIA (C563923)
..expandCorneal Dystrophy, Lisch Epithelial (C567588)
..expandCorneal Dystrophy, Posterior Amorphous (C567546)
..expandCorneal Dystrophy, Posterior Polymorphous, 1 (C562745)
..expandCorneal Dystrophy, Posterior Polymorphous, 2 (C565176)
..expandCorneal Dystrophy, Posterior Polymorphous, 3 (C563788)
..expandCorneal Dystrophy, Subepithelial Mucinous (C567547)
..expandCorneal dystrophy, Thiel-Behnke type (C535942)
..expandCorneal Endothelial Dystrophy 1 (C565156)
..expandCorneal endothelial dystrophy type 2 (C536439)
..expandCorneodermatoosseous syndrome (C536444)
..expandDermochondrocorneal dystrophy of FrančŽ½ois (C535375)
..expandEDICT SYNDROME (OMIM:614303)
..expandEndothelial Dystrophy, Congenital Hereditary, with Nail Hypoplasia (C565591)
..expandEpithelial Recurrent Erosion Dystrophy (C565155)
..expandFuchs' Endothelial Dystrophy (D005642) Child10
..expandGroenouw type I corneal dystrophy (C537304)
..expandIchthyosiform erythroderma, corneal involvement, deafness (C537363)
..expandJudge Misch Wright syndrome (C537692)
..expandKuster Majewski Hammerstein syndrome (C538125)
..expandLattice corneal dystrophy type 1 (C537881)
..expandMacular Corneal Dystrophy, Type II (C563270)
..expandMacular dystrophy, corneal type 1 (C537834)
..expandMacular Dystrophy, Fenestrated Sheen Type (C563607)
..expandMacular dystrophy, retinal, 1, North Carolina type (C537835)
..expandMacular Dystrophy, Retinal, 2 (C562746)
..expandMeretoja syndrome (C537459)
..expandMICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS (OMIM:615458)
..expandMousa Al din Al Nassar syndrome (C536989)
..expandO'Donnell Pappas syndrome (C537858)
..expandOculodental syndrome Rutherfurd syndrome (C537732)
..expandPseudoinflammatory fundus dystrophy, Finnish type (C535828)
..expandSammartino De Crecchio Syndrome (C537229)
..expandSpondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy (C566660)
..expandSveinsson Chorioretinal Atrophy (C566236)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:7822
Name:Meretoja syndrome
Definition:
Alternative IDs:OMIM:105120
ParentIDs:MESH:D000686|MESH:D003317
TreeNumbers:C11.204.236/C537459 |C11.270.162/C537459 |C16.320.290.162/C537459 |C18.452.845.500/C537459
Synonyms:Amyloid cranial neuropathy with lattice corneal dystrophy |Amyloidosis 5 |Amyloidosis due to mutant gelsolin |AMYLOIDOSIS DUE TO MUTANT GELSOLIN CEREBRAL AMYLOID ANGIOPATHY, GSN-RELATED, INCLUDED |Amyloidosis, Finnish Type |Amyloidosis, Meretoja Type |Amyloid
Slim Mappings:Eye disease|Genetic disease (inborn)|Metabolic disease
Reference: MedGen: C537459
MeSH: C537459
OMIM: 105120;
MSeqDR LSDB:  
Genes: GSN;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003581Adult onset
3 HP:0001438Abnormality of abdomen morphology
4 HP:0001283Bulbar palsy
5 HP:0030843Cardiac amyloidosis
6 HP:0001638Cardiomyopathy
7 HP:0000973Cutis laxa
8 HP:0003216Generalized amyloid deposition
9 HP:0001149Lattice corneal dystrophy
10 HP:0000100Nephrotic syndrome
NAMDC:  Nephrotic syndrome
11 HP:0001271Polyneuropathy
12 HP:0000083Renal insufficiency
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_198252.3(GSN):c.-9-2137C>T2934GSNUncertain significancers886063404RCV000407809; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124062104124062104NC_000009.11:g.124062104C>TClinGen:CA10628892C0002726 Amyloidosis;
NM_198252.3(GSN):c.-9-2057_-9-2037dup2934GSNUncertain significance-1RCV001958440|RCV002331512|RCV002497842; NMedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124062172124062173124062172-
NM_198252.3(GSN):c.-9-2066_-9-2060del2934GSNUncertain significancers1564468965RCV000779569|RCV001567670; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN5172029124062173124062179NC_000009.11:g.124062175_124062181del-
NM_198252.3(GSN):c.-9-2057_-9-2037del2934GSNUncertain significance-1RCV001928181|RCV002503582; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124062173124062193124062172-
NM_198252.3(GSN):c.-9-2058_-9-2047dup2934GSNUncertain significance-1RCV002004011|RCV002492335; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124062175124062176124062175-
NM_198252.3(GSN):c.-9-2043C>G2934GSNUncertain significance-1RCV002050998|RCV002482426; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124062198124062198124062198-
NM_198252.3(GSN):c.-9-2026C>T2934GSNUncertain significancers1048849212RCV001169573|RCV001859097; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN51720291240622151240622159:g.124062215C>T-
NM_198252.3(GSN):c.-9-2021G>A2934GSNConflicting interpretations of pathogenicityrs886063405RCV000310766|RCV001861339|RCV002429330; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202|MeSH:D030342,MedGen:C09501239124062220124062220NC_000009.11:g.124062220G>AClinGen:CA10632396C0002726 Amyloidosis;
NM_198252.3(GSN):c.-9-1999_-9-1985del2934GSNUncertain significance-1RCV001904078|RCV002478132|RCV002386611; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MeSH:D030342,MedGen:C09501239124062235124062249124062234-
NM_198252.3(GSN):c.-9-1967C>T2934GSNBenign/Likely benignrs372837702RCV001169574|RCV001819870|RCV002068043; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN169374|MedGen:CN51720291240622741240622749:g.124062274C>T-
NM_198252.3(GSN):c.-9-1951G>T2934GSNLikely benign-1RCV002137425|RCV002500080; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124062290124062290124062290-
NM_198252.3(GSN):c.-9-1943G>A2934GSNLikely benign-1RCV002163829|RCV002486976; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124062298124062298124062298-
NM_198252.3(GSN):c.-9-1942G>A2934GSNLikely benign-1RCV002137422|RCV002486911; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124062299124062299124062299-
NM_198252.3(GSN):c.-4C>G2934GSNUncertain significancers2059919681RCV001169575; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:8544891240642461240642469:g.124064246C>G-
NM_198252.3(GSN):c.7G>T (p.Val3Leu)2934GSNUncertain significancers138068754RCV001165599|RCV001859065; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN51720291240642561240642569:g.124064256G>T-
NM_198252.3(GSN):c.29A>G (p.Lys10Arg)2934GSNBenignrs115224458RCV000365448|RCV000956748; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN5172029124064278124064278NC_000009.11:g.124064278A>GClinGen:CA5220744C0002726 Amyloidosis;
NM_198252.3(GSN):c.123C>T (p.Gly41=)2934GSNLikely benignrs774617795RCV000275412|RCV002436223|RCV002523730; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MeSH:D030342,MedGen:C0950123|MedGen:CN51720291240643721240643729:g.124064372C>TClinGen:CA5220768C0002726 Amyloidosis;
NM_198252.3(GSN):c.126C>T (p.Asp42=)2934GSNLikely benignrs200027070RCV001165600|RCV002068006; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN51720291240643751240643759:g.124064375C>T-
NM_198252.3(GSN):c.162C>G (p.Asn54Lys)2934GSNUncertain significance-1RCV002045254|RCV002486641; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124064411124064411124064411-
NM_198252.3(GSN):c.163G>A (p.Gly55Arg)2934GSNBenignrs556563870RCV000330487; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:8544891240644121240644129:g.124064412G>AClinGen:CA5220778C0002726 Amyloidosis;
NM_198252.3(GSN):c.186C>T (p.His62=)2934GSNBenign/Likely benign-1RCV002152275|RCV002500085; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124064435124064435124064435-
NM_198252.3(GSN):c.196+7C>T2934GSNBenignrs146379508RCV000371221|RCV000879016; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN51720291240644521240644529:g.124064452C>TClinGen:CA5220785C0002726 Amyloidosis;
NM_198252.3(GSN):c.197-4G>A2934GSNBenign/Likely benign-1RCV002162160|RCV002337185|RCV002498121; NMedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124065185124065185124065185-
NM_198252.3(GSN):c.228G>A (p.Ala76=)2934GSNConflicting interpretations of pathogenicityrs761824852RCV001165601|RCV002068007; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN51720291240652201240652209:g.124065220G>A-
NM_198252.3(GSN):c.231C>A (p.Ala77=)2934GSNBenignrs140734150RCV001165602; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:8544891240652231240652239:g.124065223C>A-
NM_198252.3(GSN):c.232G>A (p.Ala78Thr)2934GSNBenignrs2230287RCV000276675|RCV001692064; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN51720291240652241240652249:g.124065224G>AClinGen:CA5220812,UniProtKB:P06396#VAR_024690C0002726 Amyloidosis;
NM_198252.3(GSN):c.235A>C (p.Ile79Leu)2934GSNUncertain significance-1RCV002031488|RCV002361416|RCV002479827; NMedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124065227124065227124065227-
NM_198252.3(GSN):c.243C>T (p.Thr81=)2934GSNBenign/Likely benignrs116956127RCV000317499|RCV000881338|RCV001821110|RCV002374605; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202|MedGen:CN169374|MeSH:D030342,MedGen:C095012391240652351240652359:g.124065235C>TClinGen:CA5220815C0002726 Amyloidosis;
NM_198252.3(GSN):c.271C>T (p.Arg91Trp)2934GSNConflicting interpretations of pathogenicityrs146956976RCV000372173|RCV001865245|RCV002328888; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202|MeSH:D030342,MedGen:C095012391240652631240652639:g.124065263C>TClinGen:CA5220824C0002726 Amyloidosis;
NM_198252.3(GSN):c.272G>A (p.Arg91Gln)2934GSNUncertain significance-1RCV002026059|RCV002331624|RCV002492369; NMedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124065264124065264124065264-
NM_198252.3(GSN):c.276C>T (p.Ala92=)2934GSNLikely benignrs548138013RCV000914646|RCV002495516; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:8544891240652681240652689:g.124065268C>T-
NM_198252.3(GSN):c.285C>T (p.His95=)2934GSNLikely benign-1RCV002147871|RCV002500097; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124065277124065277124065277-
NM_198252.3(GSN):c.303C>T (p.Phe101=)2934GSNLikely benign-1RCV002108823|RCV002500155; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124065295124065295124065295-
NM_198252.3(GSN):c.322G>A (p.Gly108Ser)2934GSNUncertain significance-1RCV001973981|RCV002484901; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124065314124065314124065314-
NM_198252.3(GSN):c.382G>A (p.Val128Met)2934GSNBenignrs41305623RCV000282194|RCV000957620|RCV001821111; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202|MedGen:CN1693749124072992124072992NC_000009.11:g.124072992G>AClinGen:CA5220873C0002726 Amyloidosis;
NM_198252.3(GSN):c.393C>T (p.Asn131=)2934GSNLikely benignrs186654124RCV000895499|RCV002501499; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:8544891240730031240730039:g.124073003C>T-
NM_198252.3(GSN):c.397G>T (p.Val133Leu)2934GSNUncertain significance-1RCV001928371|RCV002490276|RCV002344024; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MeSH:D030342,MedGen:C09501239124073007124073007124073007-
NM_198252.3(GSN):c.397G>A (p.Val133Met)2934GSNConflicting interpretations of pathogenicity-1RCV001898733|RCV002343999|RCV002490214; NMedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124073007124073007124073007-
NM_198252.3(GSN):c.427G>A (p.Gly143Arg)2934GSNConflicting interpretations of pathogenicityrs750132751RCV001167187|RCV001873548; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN51720291240730371240730379:g.124073037G>A-
NM_198252.3(GSN):c.431G>A (p.Arg144Gln)2934GSNLikely benign-1RCV002170312|RCV002352789|RCV002507872; NMedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124073041124073041124073041-
NM_198252.3(GSN):c.440T>C (p.Val147Ala)2934GSNUncertain significancers2061027102RCV001167188; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:8544891240730501240730509:g.124073050T>C-
NM_198252.3(GSN):c.484G>A (p.Gly162Ser)2934GSNUncertain significance-1RCV001989851|RCV002492099; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124073094124073094124073094-
NM_198252.3(GSN):c.487G>A (p.Asp163Asn)2934GSNPathogenicrs121909715RCV000017564|RCV000489240|RCV002362587; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202|MeSH:D030342,MedGen:C095012391240730971240730979:g.124073097G>AClinGen:CA250652,OMIM:137350.0001C1622345 105120 Meretoja syndrome;
NM_198252.3(GSN):c.487G>T (p.Asp163Tyr)2934GSNPathogenic/Likely pathogenicrs121909715RCV000017565; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:8544891240730971240730979:g.124073097G>TClinGen:CA250654,OMIM:137350.0002C1622345 105120 Meretoja syndrome;
NM_198252.3(GSN):c.509G>C (p.Gly170Ala)2934GSNUncertain significancers2061035565RCV001167189; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:8544891240731191240731199:g.124073119G>C-
NM_198252.3(GSN):c.513C>T (p.Asn171=)2934GSNConflicting interpretations of pathogenicity-1RCV001967744|RCV002484711|RCV002361274; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MeSH:D030342,MedGen:C09501239124073123124073123124073123-
NM_198252.3(GSN):c.513+1G>A2934GSNUncertain significance-1RCV001942763|RCV002490025; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124073124124073124124073124-
NM_198252.3(GSN):c.513+19T>C2934GSNBenign/Likely benign-1RCV002119578|RCV002507981; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124073142124073142124073142-
NM_198252.3(GSN):c.538A>G (p.Asn180Asp)2934GSNBenignrs11550199RCV000961960|RCV001167190; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:8544891240746411240746419:g.124074641A>G-
NM_198252.3(GSN):c.546T>G (p.Asn182Lys)2934GSNUncertain significancers752698745RCV000318498|RCV002523731; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN5172029124074649124074649NC_000009.11:g.124074649T>GClinGen:CA5220934C0002726 Amyloidosis;
NM_198252.3(GSN):c.547C>T (p.Arg183Trp)2934GSNConflicting interpretations of pathogenicityrs371175865RCV001167762|RCV002365818|RCV002558654; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MeSH:D030342,MedGen:C0950123|MedGen:CN51720291240746501240746509:g.124074650C>T-
NM_198252.3(GSN):c.597C>T (p.Asn199=)2934GSNBenign/Likely benignrs146329975RCV000967138|RCV002505460; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:8544891240747001240747009:g.124074700C>T-
NM_198252.3(GSN):c.602G>A (p.Arg201Gln)2934GSNUncertain significance-1RCV002016213|RCV002492348; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124074705124074705124074705-
NM_198252.3(GSN):c.616C>T (p.Arg206Ter)2934GSNUncertain significance-1RCV001508266|RCV002488308; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124074719124074719124074719-
NM_198252.3(GSN):c.638G>A (p.Gly213Asp)2934GSNUncertain significance-1RCV001987444|RCV002479540|RCV002563422; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MeSH:D030342,MedGen:C09501239124074741124074741124074741-
NM_198252.3(GSN):c.664-4A>G2934GSNBenign/Likely benignrs143590302RCV000890781|RCV001167763; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:8544891240762081240762089:g.124076208A>G-
NM_198252.3(GSN):c.692C>T (p.Ala231Val)2934GSNUncertain significance-1RCV001887712|RCV002489956; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124076240124076240124076240-
NM_198252.3(GSN):c.723G>A (p.Ala241=)2934GSNLikely benignrs377624593RCV000378084|RCV002374606; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MeSH:D030342,MedGen:C09501239124076271124076271NC_000009.11:g.124076271G>AClinGen:CA5221008C0002726 Amyloidosis;
NM_198252.3(GSN):c.741C>T (p.Ala247=)2934GSNLikely benign-1RCV002120149|RCV002494259; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124076289124076289124076289-
NM_198252.3(GSN):c.753+1G>A2934GSNUncertain significance-1RCV002307768|RCV002051081|RCV002370360|RCV002489927; NMedGen:CN169374|MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124076302124076302124076302-
NM_198252.3(GSN):c.754-11C>T2934GSNBenignrs374057474RCV001167764|RCV002068028; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN51720291240793531240793539:g.124079353C>T-
NM_198252.3(GSN):c.754-8C>T2934GSNLikely benign-1RCV002189706|RCV002507885; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124079356124079356124079356-
NM_198252.3(GSN):c.761A>G (p.Asn254Ser)2934GSNUncertain significance-1RCV001988793|RCV002492278; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124079371124079371124079371-
NM_198252.3(GSN):c.776T>C (p.Met259Thr)2934GSNUncertain significance-1RCV001929542|RCV002507597; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124079386124079386124079386-
NM_198252.3(GSN):c.781G>A (p.Val261Ile)2934GSNUncertain significancers745588757RCV000283584|RCV002481255|RCV002523732; NHuman Phenotype Ontology:HP:0011034,MONDO:MONDO:0019065,MedGen:C0002726, Orphanet:69|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN5172029124079391124079391NC_000009.11:g.124079391G>AClinGen:CA5221046C0002726 Amyloidosis;
NM_198252.3(GSN):c.811G>A (p.Ala271Thr)2934GSNUncertain significance-1RCV001875508|RCV002482686; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124079421124079421124079421-
NM_198252.3(GSN):c.856G>A (p.Gly286Ser)2934GSNConflicting interpretations of pathogenicity-1RCV002020059|RCV002492322|RCV002657672; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MeSH:D030342,MedGen:C09501239124079466124079466124079466-
NM_198252.3(GSN):c.886+10A>G2934GSNLikely benign-1RCV002189876|RCV002498180; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124079506124079506124079506-
NM_198252.3(GSN):c.886+12A>C2934GSNConflicting interpretations of pathogenicityrs201952723RCV001167765|RCV002558655; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN51720291240795081240795089:g.124079508A>C-
NM_198252.3(GSN):c.886+19G>T2934GSNBenign/Likely benign-1RCV002187546|RCV002498176; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124079515124079515124079515-
NM_198252.3(GSN):c.886+19G>A2934GSNLikely benign-1RCV002189025|RCV002505866; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124079515124079515124079515-
NM_198252.3(GSN):c.914A>G (p.Lys305Arg)2934GSNUncertain significancers2061970047RCV001167766; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:8544891240807111240807119:g.124080711A>G-
NM_198252.3(GSN):c.989C>T (p.Pro330Leu)2934GSNUncertain significance-1RCV001900247|RCV002490071; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124080956124080956124080956-
NM_198252.3(GSN):c.997G>A (p.Gly333Ser)2934GSNUncertain significance-1RCV001727485|RCV002488485|RCV002343804; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MeSH:D030342,MedGen:C09501239124080964124080964124080964-
NM_198252.3(GSN):c.998G>T (p.Gly333Val)2934GSNUncertain significancers1014328091RCV001167767; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:8544891240809651240809659:g.124080965G>T-
NM_198252.3(GSN):c.1009C>T (p.Leu337=)2934GSNBenign/Likely benignrs528161256RCV000918206|RCV001253934; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:8544891240809761240809769:g.124080976C>T-
NM_198252.3(GSN):c.1037G>A (p.Arg346Gln)2934GSNUncertain significancers372681751RCV000343155|RCV002348120|RCV002523733; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MeSH:D030342,MedGen:C0950123|MedGen:CN5172029124081004124081004NC_000009.11:g.124081004G>AClinGen:CA5221125C0002726 Amyloidosis;
NM_198252.3(GSN):c.1096G>A (p.Val366Met)2934GSNConflicting interpretations of pathogenicity-1RCV001881581|RCV002397844|RCV002482682; NMedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124081063124081063124081063-
NM_198252.3(GSN):c.1098G>A (p.Val366=)2934GSNBenign/Likely benignrs201325199RCV000397866|RCV002411260|RCV002061311; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MeSH:D030342,MedGen:C0950123|MedGen:CN5172029124081065124081065NC_000009.11:g.124081065G>AClinGen:CA5221145C0002726 Amyloidosis;
NM_198252.3(GSN):c.1103G>A (p.Arg368Gln)2934GSNUncertain significance-1RCV002022738|RCV002486645|RCV002423235; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MeSH:D030342,MedGen:C09501239124081070124081070124081070-
NM_198252.3(GSN):c.1170C>T (p.Asp390=)2934GSNBenign/Likely benignrs147583697RCV000288952|RCV000921208|RCV002379251; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202|MeSH:D030342,MedGen:C09501239124081137124081137NC_000009.11:g.124081137C>TClinGen:CA5221157C0002726 Amyloidosis;
NM_198252.3(GSN):c.1171G>A (p.Asp391Asn)2934GSNConflicting interpretations of pathogenicityrs142034230RCV001254007|RCV001879877|RCV002379957; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202|MeSH:D030342,MedGen:C095012391240811381240811389:g.124081138G>A-
NM_198252.3(GSN):c.1190A>G (p.Gln397Arg)2934GSNUncertain significance-1RCV001996958|RCV002386803|RCV002484769; NMedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124081157124081157124081157-
NM_198252.3(GSN):c.1191+4C>T2934GSNConflicting interpretations of pathogenicityrs372713895RCV000343885|RCV002379252|RCV001865246; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MeSH:D030342,MedGen:C0950123|MedGen:CN5172029124081162124081162NC_000009.11:g.124081162C>TClinGen:CA5221164C0002726 Amyloidosis;
NM_198252.3(GSN):c.1191+14G>A2934GSNBenign/Likely benignrs377308627RCV001254008|RCV002570551; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN51720291240811721240811729:g.124081172G>A-
NM_198252.3(GSN):c.1204G>A (p.Glu402Lys)2934GSNUncertain significance-1RCV002029848|RCV002386588|RCV002489911; NMedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124083558124083558124083558-
NM_198252.3(GSN):c.1225G>A (p.Val409Met)2934GSNBenign/Likely benignrs140042418RCV000390100|RCV001729569|RCV002379253; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202|MeSH:D030342,MedGen:C09501239124083579124083579NC_000009.11:g.124083579G>AClinGen:CA5221194C0002726 Amyloidosis;
NM_198252.3(GSN):c.1239A>G (p.Thr413=)2934GSNBenign/Likely benignrs149375418RCV000308967|RCV000956749|RCV001796018|RCV002392923; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202|MedGen:CN169374|MeSH:D030342,MedGen:C09501239124083593124083593NC_000009.11:g.124083593A>GClinGen:CA5221197C0002726 Amyloidosis;
NM_198252.3(GSN):c.1260C>T (p.Gly420=)2934GSNBenignrs2304393RCV000349867|RCV001643104; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN5172029124083614124083614NC_000009.11:g.124083614C>TClinGen:CA5221200C0002726 Amyloidosis;
NM_198252.3(GSN):c.1267T>C (p.Tyr423His)2934GSNPathogenic-1RCV003138161; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124083621124083621NC_000009.11:g.124083621T>C-
NM_198252.3(GSN):c.1288C>T (p.Arg430Cys)2934GSNBenign/Likely benignrs116185403RCV000398476|RCV000882012|RCV002392924|RCV001821112; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MedGen:CN1693749124083642124083642NC_000009.11:g.124083642C>TClinGen:CA5221203C0002726 Amyloidosis;
NM_198252.3(GSN):c.1324T>C (p.Trp442Arg)2934GSNUncertain significancers2062427908RCV001265608; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:8544891240836781240836789:g.124083678T>C-
NM_198252.3(GSN):c.1325+14G>A2934GSNLikely benign-1RCV002138777|RCV002505811; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124083693124083693124083693-
NM_198252.3(GSN):c.1416+16C>T2934GSNBenign/Likely benign-1RCV002129502|RCV002494264; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124086938124086938124086938-
NM_198252.3(GSN):c.1416+17G>A2934GSNLikely benign-1RCV002204324|RCV002500442; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124086939124086939124086939-
NM_198252.3(GSN):c.1417-22T>C2934GSNBenign-1RCV001688706|RCV001703056; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124088768124088768124088768-
NM_198252.3(GSN):c.1417A>G (p.Ser473Gly)2934GSNUncertain significance-1RCV001866446|RCV002482455; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124088790124088790124088790-
NM_198252.3(GSN):c.1420C>T (p.Arg474Cys)2934GSNUncertain significance-1RCV001947460|RCV002478165; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124088793124088793124088793-
NM_198252.3(GSN):c.1421G>A (p.Arg474His)2934GSNConflicting interpretations of pathogenicityrs142828669RCV000314461|RCV001850932|RCV002402079; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202|MeSH:D030342,MedGen:C09501239124088794124088794NC_000009.11:g.124088794G>AClinGen:CA5221247C0002726 Amyloidosis;
NM_198252.3(GSN):c.1423G>T (p.Val475Leu)2934GSNConflicting interpretations of pathogenicityrs766945413RCV001165663|RCV002393377|RCV002559587; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MeSH:D030342,MedGen:C0950123|MedGen:CN51720291240887961240887969:g.124088796G>T-
NM_198252.3(GSN):c.1441C>A (p.Pro481Thr)2934GSNUncertain significance-1RCV001923231|RCV002503578; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124088814124088814124088814-
NM_198252.3(GSN):c.1443C>T (p.Pro481=)2934GSNBenign/Likely benignrs200156774RCV000938536|RCV001165664; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:8544891240888161240888169:g.124088816C>T-
NM_198252.3(GSN):c.1444G>A (p.Ala482Thr)2934GSNConflicting interpretations of pathogenicity-1RCV001942791|RCV002490026|RCV002397804; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MeSH:D030342,MedGen:C09501239124088817124088817124088817-
NM_198252.3(GSN):c.1485C>T (p.Ile495=)2934GSNBenign/Likely benign-1RCV002105644|RCV002494238; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124088858124088858124088858-
NM_198252.3(GSN):c.1487A>G (p.Tyr496Cys)2934GSNBenign/Likely benignrs139832048RCV000369097|RCV002061312|RCV002402080; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202|MeSH:D030342,MedGen:C09501239124088860124088860NC_000009.11:g.124088860A>GClinGen:CA5221261C0002726 Amyloidosis;
NM_198252.3(GSN):c.1506C>T (p.Arg502=)2934GSNUncertain significance-1RCV002041380|RCV002482400; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124088879124088879124088879-
NM_198252.3(GSN):c.1507G>A (p.Glu503Lys)2934GSNUncertain significance-1RCV001945059|RCV002484483|RCV002556363; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MeSH:D030342,MedGen:C09501239124088880124088880124088880-
NM_198252.3(GSN):c.1513G>A (p.Gly505Arg)2934GSNBenign/Likely benignrs58750568RCV000260878|RCV002402081|RCV002061313; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MeSH:D030342,MedGen:C0950123|MedGen:CN5172029124088886124088886NC_000009.11:g.124088886G>AClinGen:CA5221273C0002726 Amyloidosis;
NM_198252.3(GSN):c.1535C>G (p.Thr512Ser)2934GSNBenignrs77681311RCV000297409|RCV002058767; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN5172029124088908124088908NC_000009.11:g.124088908C>GClinGen:CA5221281C0002726 Amyloidosis;
NM_198252.3(GSN):c.1538G>A (p.Arg513His)2934GSNConflicting interpretations of pathogenicity-1RCV001938852|RCV002484617|RCV002397935; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MeSH:D030342,MedGen:C09501239124088911124088911124088911-
NM_198252.3(GSN):c.1547A>G (p.Gln516Arg)2934GSNUncertain significancers780840732RCV001167255; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:8544891240889201240889209:g.124088920A>G-
NM_198252.3(GSN):c.1553G>A (p.Arg518His)2934GSNUncertain significancers769400986RCV000356817; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124088926124088926NC_000009.11:g.124088926G>AClinGen:CA5221286C0002726 Amyloidosis;
NM_198252.3(GSN):c.1555G>A (p.Ala519Thr)2934GSNConflicting interpretations of pathogenicityrs147554026RCV000262080|RCV001531107|RCV002402082; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202|MeSH:D030342,MedGen:C09501239124088928124088928NC_000009.11:g.124088928G>AClinGen:CA5221288C0002726 Amyloidosis;
NM_198252.3(GSN):c.1563C>T (p.Ser521=)2934GSNBenign/Likely benignrs140414249RCV000321730|RCV002402083|RCV002058768; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MeSH:D030342,MedGen:C0950123|MedGen:CN5172029124088936124088936NC_000009.11:g.124088936C>TClinGen:CA5221289C0002726 Amyloidosis;
NM_198252.3(GSN):c.1576C>T (p.Arg526Trp)2934GSNUncertain significance-1RCV001903197|RCV002490171; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124088949124088949124088949-
NM_198252.3(GSN):c.1577G>A (p.Arg526Gln)2934GSNConflicting interpretations of pathogenicityrs528604896RCV000376344|RCV002523734|RCV002402084; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202|MeSH:D030342,MedGen:C09501239124088950124088950NC_000009.11:g.124088950G>AClinGen:CA5221290C0002726 Amyloidosis;
NM_198252.3(GSN):c.1585G>A (p.Glu529Lys)2934GSNUncertain significancers2063220897RCV001196370; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:8544891240889581240889589:g.124088958G>A-
NM_198252.3(GSN):c.1637A>G (p.Lys546Arg)2934GSNBenign/Likely benign-1RCV002186915|RCV002498155; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124089635124089635124089635-
NM_198252.3(GSN):c.1651G>A (p.Ala551Thr)2934GSNConflicting interpretations of pathogenicityrs777955781RCV001167256|RCV001873550; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN51720291240896491240896499:g.124089649G>A-
NM_198252.3(GSN):c.1657C>G (p.Leu553Val)2934GSNUncertain significancers2063344146RCV001167257; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:8544891240896551240896559:g.124089655C>G-
NM_198252.3(GSN):c.1663G>A (p.Val555Met)2934GSNBenign/Likely benignrs151208452RCV000267836|RCV000908629|RCV001821113|RCV002411261; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202|MedGen:CN169374|MeSH:D030342,MedGen:C09501239124089661124089661NC_000009.11:g.124089661G>AClinGen:CA5221375C0002726 Amyloidosis;
NM_198252.3(GSN):c.1680C>T (p.Ser560=)2934GSNBenignrs73660439RCV000909831|RCV001167840; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:8544891240896781240896789:g.124089678C>T-
NM_198252.3(GSN):c.1690A>G (p.Lys564Glu)2934GSNUncertain significance-1RCV002479644|RCV002018941; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN5172029124089688124089688124089688-
NM_198252.3(GSN):c.1694C>T (p.Thr565Met)2934GSNBenignrs76463933RCV000322979|RCV001683444; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN5172029124089692124089692NC_000009.11:g.124089692C>TClinGen:CA5221385C0002726 Amyloidosis;
NM_198252.3(GSN):c.1727C>G (p.Ala576Gly)2934GSNBenign/Likely benignrs567372749RCV001167841|RCV002067824|RCV002411660; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202|MeSH:D030342,MedGen:C095012391240897251240897259:g.124089725C>G-
NM_198252.3(GSN):c.1762G>T (p.Asp588Tyr)2934GSNConflicting interpretations of pathogenicity-1RCV002407240|RCV002507753|RCV002008224; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN5172029124089760124089760124089760-
NM_198252.3(GSN):c.1762+20del2934GSNBenign/Likely benign-1RCV002079210|RCV002494336; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124089775124089775124089774-
NM_198252.3(GSN):c.1762+19G>A2934GSNLikely benign-1RCV002500259|RCV002134067; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN5172029124089779124089779124089779-
NM_198252.3(GSN):c.1763-34G>A2934GSNBenign-1RCV001655442|RCV001702946; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124091135124091135124091135-
NM_198252.3(GSN):c.1763-10C>T2934GSNLikely benign-1RCV002099253|RCV002500139; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124091159124091159124091159-
NM_198252.3(GSN):c.1782G>A (p.Leu594=)2934GSNBenign/Likely benignrs139239940RCV000381432|RCV000964310|RCV002411262|RCV001821114; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202|MeSH:D030342,MedGen:C0950123|MedGen:CN1693749124091188124091188NC_000009.11:g.124091188G>AClinGen:CA5221419C0002726 Amyloidosis;
NM_198252.3(GSN):c.1850G>T (p.Arg617Leu)2934GSNBenignrs9696578RCV000890782|RCV001167842; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:8544891240912561240912569:g.124091256G>T-
NM_198252.3(GSN):c.1850G>A (p.Arg617His)2934GSNUncertain significance-1RCV001931420|RCV002484621; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124091256124091256124091256-
NM_198252.3(GSN):c.1870A>G (p.Lys624Glu)2934GSNUncertain significance-1RCV001990094|RCV002484788; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124091276124091276124091276-
NM_198252.3(GSN):c.1874T>C (p.Ile625Thr)2934GSNBenignrs777767455RCV001167843; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:8544891240912801240912809:g.124091280T>C-
NM_198252.3(GSN):c.1880G>A (p.Arg627His)2934GSNUncertain significance-1RCV002031375|RCV002423285|RCV002492401; NMedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124091286124091286124091286-
NM_198252.3(GSN):c.1887+11G>T2934GSNBenign/Likely benign-1RCV002083763|RCV002486856; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124091304124091304124091304-
NM_198252.3(GSN):c.1915C>T (p.Gln639Ter)2934GSNUncertain significance-1RCV002037191|RCV002506867; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124091543124091543124091543-
NM_198252.3(GSN):c.1931C>T (p.Thr644Met)2934GSNBenign/Likely benignrs144434647RCV000291668|RCV000891402|RCV002418218; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202|MeSH:D030342,MedGen:C09501239124091559124091559NC_000009.11:g.124091559C>TClinGen:CA5221470C0002726 Amyloidosis;
NM_198252.3(GSN):c.1932G>A (p.Thr644=)2934GSNBenign/Likely benign-1RCV002117891|RCV002508017; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124091560124091560124091560-
NM_198252.3(GSN):c.1939G>A (p.Val647Ile)2934GSNUncertain significance-1RCV002023079|RCV002423259|RCV002479783; NMedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124091567124091567124091567-
NM_198252.3(GSN):c.1942A>G (p.Met648Val)2934GSNUncertain significancers886063406RCV000346533; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124091570124091570NC_000009.11:g.124091570A>GClinGen:CA10632240C0002726 Amyloidosis;
NM_198252.3(GSN):c.2002G>A (p.Glu668Lys)2934GSNUncertain significancers886063407RCV000387049; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124093702124093702NC_000009.11:g.124093702G>AClinGen:CA10632241C0002726 Amyloidosis;
NM_198252.3(GSN):c.2040C>T (p.Ile680=)2934GSNLikely benign-1RCV002100031|RCV002498328; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124094725124094725124094725-
NM_198252.3(GSN):c.2041G>A (p.Glu681Lys)2934GSNUncertain significance-1RCV001876394|RCV002425114|RCV002482462; NMedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124094726124094726124094726-
NM_198252.3(GSN):c.2045C>T (p.Thr682Met)2934GSNLikely benignrs142854368RCV001169717|RCV002068044|RCV002418599; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202|MeSH:D030342,MedGen:C095012391240947301240947309:g.124094730C>T-
NM_198252.3(GSN):c.2046G>A (p.Thr682=)2934GSNBenign/Likely benignrs747385746RCV000292978|RCV000924267|RCV002429331; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202|MeSH:D030342,MedGen:C09501239124094731124094731NC_000009.11:g.124094731G>AClinGen:CA5221529C0002726 Amyloidosis;
NM_198252.3(GSN):c.2060G>A (p.Arg687Gln)2934GSNConflicting interpretations of pathogenicityrs770023727RCV001169718|RCV002558691; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN51720291240947451240947459:g.124094745G>A-
NM_198252.3(GSN):c.2065C>T (p.Arg689Trp)2934GSNUncertain significance-1RCV001960334|RCV002492055; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124094750124094750124094750-
NM_198252.3(GSN):c.2069G>A (p.Arg690Gln)2934GSNConflicting interpretations of pathogenicityrs141510612RCV001169719|RCV001859099|RCV002559627; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN517202|MeSH:D030342,MedGen:C095012391240947541240947549:g.124094754G>A-
NM_198252.3(GSN):c.2082C>T (p.Thr694=)2934GSNLikely benign-1RCV002073604|RCV002507930; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124094767124094767124094767-
NM_198252.3(GSN):c.2115T>C (p.Phe705=)2934GSNBenignrs9102RCV000352565|RCV001595002; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN5172029124094800124094800NC_000009.11:g.124094800T>CClinGen:CA5221542C0002726 Amyloidosis;
NM_198252.3(GSN):c.2137del (p.Asp713fs)2934GSNUncertain significance-1RCV001883190|RCV002490081; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124094820124094820124094819-
NM_198252.3(GSN):c.*28G>A2934GSNUncertain significancers376801564RCV001169720; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:8544891240949091240949099:g.124094909G>A-
NM_198252.3(GSN):c.*98T>A2934GSNUncertain significancers903037306RCV001165729; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:8544891240949791240949799:g.124094979T>A-
NM_198252.3(GSN):c.*126T>C2934GSNUncertain significancers886063411RCV000269863; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124095007124095007NC_000009.11:g.124095007T>CClinGen:CA10632409C0002726 Amyloidosis;
NM_198252.3(GSN):c.*185G>A2934GSNUncertain significancers757682798RCV000326004; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:8544891240950661240950669:g.124095066G>AClinGen:CA10632254C0002726 Amyloidosis;
NM_198252.3(GSN):c.*194G>A2934GSNUncertain significancers886063412RCV000385243; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:8544891240950751240950759:g.124095075G>AClinGen:CA10628908C0002726 Amyloidosis;
NM_198252.3(GSN):c.*205G>A2934GSNUncertain significancers779431879RCV000272138; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:8544891240950861240950869:g.124095086G>AClinGen:CA10626355C0002726 Amyloidosis;
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