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:854489124062104124062104CT9:g.124062104C>TClinGen:CA10628892
NM_001127666.2(GSN):c.-47-159_-47-153del2934GSNUncertain significancers1564468965RCV000779569; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124062173124062179TTGCGCGCT9:g.124062173_124062179del-
NM_001127666.2(GSN):c.-47-119C>T2934GSNUncertain significance-1RCV001169573; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124062215124062215CT9:g.124062215C>T-
NM_001127666.2(GSN):c.-47-114G>A2934GSNUncertain significancers886063405RCV000310766; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124062220124062220GA9:g.124062220G>AClinGen:CA10632396
NM_001127666.2(GSN):c.-47-60C>T2934GSNBenign-1RCV001169574; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124062274124062274CT9:g.124062274C>T-
NM_001127666.2(GSN):c.30C>G (p.Asn10Lys)2934GSNUncertain significance-1RCV001169575; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124064246124064246CG9:g.124064246C>G-
NM_001127666.2(GSN):c.40G>T (p.Val14Leu)2934GSNUncertain significance-1RCV001165599; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124064256124064256GT9:g.124064256G>T-
NM_001127666.2(GSN):c.62A>G (p.Lys21Arg)2934GSNBenignrs115224458RCV000365448|RCV000956748; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN5172029124064278124064278AG9:g.124064278A>GClinGen:CA5220744
NM_001127666.2(GSN):c.156C>T (p.Gly52=)2934GSNLikely benignrs774617795RCV000275412; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124064372124064372CT9:g.124064372C>TClinGen:CA5220768C0002726 Amyloidosis;
NM_001127666.2(GSN):c.159C>T (p.Asp53=)2934GSNLikely benign-1RCV001165600; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124064375124064375CT9:g.124064375C>T-
NM_001127666.2(GSN):c.196G>A (p.Gly66Arg)2934GSNBenignrs556563870RCV000330487; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124064412124064412GA9:g.124064412G>AClinGen:CA5220778C0002726 Amyloidosis;
NM_001127666.2(GSN):c.229+7C>T2934GSNBenignrs146379508RCV000371221|RCV000879016; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN5172029124064452124064452CT9:g.124064452C>TClinGen:CA5220785C0002726 Amyloidosis;
NM_001127666.2(GSN):c.261G>A (p.Ala87=)2934GSNUncertain significance-1RCV001165601; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124065220124065220GA9:g.124065220G>A-
NM_001127666.2(GSN):c.264C>A (p.Ala88=)2934GSNBenign-1RCV001165602; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124065223124065223CA9:g.124065223C>A-
NM_001127666.2(GSN):c.265G>A (p.Ala89Thr)2934GSNBenignrs2230287RCV000276675; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124065224124065224GA9:g.124065224G>AClinGen:CA5220812,UniProtKB:P06396#VAR_024690C0002726 Amyloidosis;
NM_001127666.2(GSN):c.276C>T (p.Thr92=)2934GSNBenignrs116956127RCV000317499|RCV000881338; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN5172029124065235124065235CT9:g.124065235C>TClinGen:CA5220815C0002726 Amyloidosis;
NM_001127666.2(GSN):c.304C>T (p.Arg102Trp)2934GSNBenignrs146956976RCV000372173; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124065263124065263CT9:g.124065263C>TClinGen:CA5220824C0002726 Amyloidosis;
NM_001127666.2(GSN):c.415G>A (p.Val139Met)2934GSNBenignrs41305623RCV000282194|RCV000957620; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN5172029124072992124072992GA9:g.124072992G>AClinGen:CA5220873
NM_001127666.2(GSN):c.460G>A (p.Gly154Arg)2934GSNLikely benign-1RCV001167187; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124073037124073037GA9:g.124073037G>A-
NM_001127666.2(GSN):c.473T>C (p.Val158Ala)2934GSNUncertain significance-1RCV001167188; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124073050124073050TC9:g.124073050T>C-
NM_198252.3(GSN):c.487G>A (p.Asp163Asn)2934GSNPathogenicrs121909715RCV000017564|RCV000489240; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN5172029124073097124073097GA9:g.124073097G>AClinGen:CA250652,OMIM:137350.0001C1622345 105120 Meretoja syndrome;
NM_198252.3(GSN):c.487G>T (p.Asp163Tyr)2934GSNPathogenicrs121909715RCV000017565; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124073097124073097GT9:g.124073097G>TClinGen:CA250654,OMIM:137350.0002C1622345 105120 Meretoja syndrome;
NM_001127666.2(GSN):c.542G>C (p.Gly181Ala)2934GSNUncertain significance-1RCV001167189; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124073119124073119GC9:g.124073119G>C-
NM_001127666.2(GSN):c.571A>G (p.Asn191Asp)2934GSNBenignrs11550199RCV000961960|RCV001167190; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124074641124074641AG9:g.124074641A>G-
NM_001127666.2(GSN):c.579T>G (p.Asn193Lys)2934GSNUncertain significancers752698745RCV000318498; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124074649124074649TG9:g.124074649T>GClinGen:CA5220934
NM_001127666.2(GSN):c.580C>T (p.Arg194Trp)2934GSNBenign-1RCV001167762; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124074650124074650CT9:g.124074650C>T-
NM_001127666.2(GSN):c.697-4A>G2934GSNBenignrs143590302RCV000890781|RCV001167763; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124076208124076208AG9:g.124076208A>G-
NM_001127666.2(GSN):c.756G>A (p.Ala252=)2934GSNLikely benignrs377624593RCV000378084; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124076271124076271GA9:g.124076271G>AClinGen:CA5221008
NM_001127666.2(GSN):c.787-11C>T2934GSNBenign-1RCV001167764; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124079353124079353CT9:g.124079353C>T-
NM_001127666.2(GSN):c.919+12A>C2934GSNUncertain significance-1RCV001167765; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124079508124079508AC9:g.124079508A>C-
NM_001127666.2(GSN):c.947A>G (p.Lys316Arg)2934GSNUncertain significance-1RCV001167766; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124080711124080711AG9:g.124080711A>G-
NM_001127666.2(GSN):c.1031G>T (p.Gly344Val)2934GSNUncertain significance-1RCV001167767; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124080965124080965GT9:g.124080965G>T-
NM_198252.3(GSN):c.1009C>T (p.Leu337=)2934GSNBenignrs528161256RCV000918206|RCV001253934; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124080976124080976CT9:g.124080976C>T-
NM_198252.3(GSN):c.1037G>A (p.Arg346Gln)2934GSNUncertain significancers372681751RCV000343155; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124081004124081004GA9:g.124081004G>AClinGen:CA5221125
NM_198252.3(GSN):c.1098G>A (p.Val366=)2934GSNBenignrs201325199RCV000397866; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124081065124081065GA9:g.124081065G>AClinGen:CA5221145
NM_198252.3(GSN):c.1170C>T (p.Asp390=)2934GSNBenign/Likely benignrs147583697RCV000288952|RCV000921208; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN5172029124081137124081137CT9:g.124081137C>TClinGen:CA5221157
NM_198252.3(GSN):c.1171G>A (p.Asp391Asn)2934GSNBenign-1RCV001254007; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124081138124081138GA9:g.124081138G>A-
NM_198252.3(GSN):c.1191+4C>T2934GSNBenignrs372713895RCV000343885; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124081162124081162CT9:g.124081162C>TClinGen:CA5221164
NM_198252.3(GSN):c.1191+14G>A2934GSNBenign-1RCV001254008; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124081172124081172GA9:g.124081172G>A-
NM_198252.3(GSN):c.1225G>A (p.Val409Met)2934GSNBenignrs140042418RCV000390100; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124083579124083579GA9:g.124083579G>AClinGen:CA5221194
NM_001127666.2(GSN):c.1272A>G (p.Thr424=)2934GSNBenignrs149375418RCV000308967|RCV000956749; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN5172029124083593124083593AG9:g.124083593A>GClinGen:CA5221197
NM_001127666.2(GSN):c.1293C>T (p.Gly431=)2934GSNBenignrs2304393RCV000349867; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124083614124083614CT9:g.124083614C>TClinGen:CA5221200
NM_001127666.2(GSN):c.1321C>T (p.Arg441Cys)2934GSNBenignrs116185403RCV000398476|RCV000882012; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN5172029124083642124083642CT9:g.124083642C>TClinGen:CA5221203
NM_198252.3(GSN):c.1324T>C (p.Trp442Arg)2934GSNUncertain significance-1RCV001265608; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124083678124083678TC9:g.124083678T>C-
NM_001127666.2(GSN):c.1454G>A (p.Arg485His)2934GSNBenignrs142828669RCV000314461; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124088794124088794GA9:g.124088794G>AClinGen:CA5221247
NM_001127666.2(GSN):c.1456G>T (p.Val486Leu)2934GSNBenign-1RCV001165663; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124088796124088796GT9:g.124088796G>T-
NM_001127666.2(GSN):c.1476C>T (p.Pro492=)2934GSNBenign/Likely benignrs200156774RCV000938536|RCV001165664; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124088816124088816CT9:g.124088816C>T-
NM_001127666.2(GSN):c.1520A>G (p.Tyr507Cys)2934GSNBenignrs139832048RCV000369097; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124088860124088860AG9:g.124088860A>GClinGen:CA5221261
NM_001127666.2(GSN):c.1546G>A (p.Gly516Arg)2934GSNBenignrs58750568RCV000260878; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124088886124088886GA9:g.124088886G>AClinGen:CA5221273
NM_001127666.2(GSN):c.1568C>G (p.Thr523Ser)2934GSNBenignrs77681311RCV000297409; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124088908124088908CG9:g.124088908C>GClinGen:CA5221281
NM_001127666.2(GSN):c.1580A>G (p.Gln527Arg)2934GSNUncertain significance-1RCV001167255; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124088920124088920AG9:g.124088920A>G-
NM_001127666.2(GSN):c.1586G>A (p.Arg529His)2934GSNUncertain significancers769400986RCV000356817; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124088926124088926GA9:g.124088926G>AClinGen:CA5221286
NM_001127666.2(GSN):c.1588G>A (p.Ala530Thr)2934GSNBenignrs147554026RCV000262080; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124088928124088928GA9:g.124088928G>AClinGen:CA5221288
NM_001127666.2(GSN):c.1596C>T (p.Ser532=)2934GSNBenignrs140414249RCV000321730; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124088936124088936CT9:g.124088936C>TClinGen:CA5221289
NM_001127666.2(GSN):c.1610G>A (p.Arg537Gln)2934GSNLikely benignrs528604896RCV000376344; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124088950124088950GA9:g.124088950G>AClinGen:CA5221290
NM_198252.3(GSN):c.1585G>A (p.Glu529Lys)2934GSNUncertain significance-1RCV001196370; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124088958124088958GA9:g.124088958G>A-
NM_001127666.2(GSN):c.1684G>A (p.Ala562Thr)2934GSNLikely benign-1RCV001167256; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124089649124089649GA9:g.124089649G>A-
NM_001127666.2(GSN):c.1690C>G (p.Leu564Val)2934GSNUncertain significance-1RCV001167257; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124089655124089655CG9:g.124089655C>G-
NM_001127666.2(GSN):c.1696G>A (p.Val566Met)2934GSNBenignrs151208452RCV000267836|RCV000908629; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN5172029124089661124089661GA9:g.124089661G>AClinGen:CA5221375
NM_001127666.2(GSN):c.1713C>T (p.Ser571=)2934GSNBenignrs73660439RCV000909831|RCV001167840; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124089678124089678CT9:g.124089678C>T-
NM_001127666.2(GSN):c.1727C>T (p.Thr576Met)2934GSNBenignrs76463933RCV000322979; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124089692124089692CT9:g.124089692C>TClinGen:CA5221385
NM_001127666.2(GSN):c.1760C>G (p.Ala587Gly)2934GSNBenign-1RCV001167841; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124089725124089725CG9:g.124089725C>G-
NM_001127666.2(GSN):c.1815G>A (p.Leu605=)2934GSNBenignrs139239940RCV000381432|RCV000964310; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN5172029124091188124091188GA9:g.124091188G>AClinGen:CA5221419
NM_001127666.2(GSN):c.1883G>T (p.Arg628Leu)2934GSNBenignrs9696578RCV000890782|RCV001167842; NMedGen:CN517202|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124091256124091256GT9:g.124091256G>T-
NM_001127666.2(GSN):c.1907T>C (p.Ile636Thr)2934GSNBenign-1RCV001167843; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124091280124091280TC9:g.124091280T>C-
NM_001127666.2(GSN):c.1964C>T (p.Thr655Met)2934GSNBenign/Likely benignrs144434647RCV000291668|RCV000891402; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN5172029124091559124091559CT9:g.124091559C>TClinGen:CA5221470
NM_001127666.2(GSN):c.1975A>G (p.Met659Val)2934GSNUncertain significancers886063406RCV000346533; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124091570124091570AG9:g.124091570A>GClinGen:CA10632240
NM_001127666.2(GSN):c.2035G>A (p.Glu679Lys)2934GSNUncertain significancers886063407RCV000387049; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124093702124093702GA9:g.124093702G>AClinGen:CA10632241
NM_001127666.2(GSN):c.2078C>T (p.Thr693Met)2934GSNLikely benign-1RCV001169717; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124094730124094730CT9:g.124094730C>T-
NM_198252.3(GSN):c.2046G>A (p.Thr682=)2934GSNBenignrs747385746RCV000292978|RCV000924267; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448|MedGen:CN5172029124094731124094731GA9:g.124094731G>AClinGen:CA5221529
NM_001127666.2(GSN):c.2093G>A (p.Arg698Gln)2934GSNLikely benign-1RCV001169718; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124094745124094745GA9:g.124094745G>A-
NM_001127666.2(GSN):c.2102G>A (p.Arg701Gln)2934GSNBenign-1RCV001169719; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124094754124094754GA9:g.124094754G>A-
NM_001127666.2(GSN):c.2148T>C (p.Phe716=)2934GSNBenignrs9102RCV000352565; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124094800124094800TC9:g.124094800T>CClinGen:CA5221542
NM_001127666.2(GSN):c.*28G>A2934GSNUncertain significance-1RCV001169720; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124094909124094909GA9:g.124094909G>A-
NM_001127666.2(GSN):c.*98T>A2934GSNUncertain significance-1RCV001165729; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124094979124094979TA9:g.124094979T>A-
NM_001127666.2(GSN):c.*126T>C2934GSNUncertain significancers886063411RCV000269863; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124095007124095007TC9:g.124095007T>CClinGen:CA10632409
NM_001127666.2(GSN):c.*185G>A2934GSNUncertain significancers757682798RCV000326004; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124095066124095066GA9:g.124095066G>AClinGen:CA10632254C0002726 Amyloidosis;
NM_001127666.2(GSN):c.*194G>A2934GSNUncertain significancers886063412RCV000385243; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124095075124095075GA9:g.124095075G>AClinGen:CA10628908C0002726 Amyloidosis;
NM_001127666.2(GSN):c.*205G>A2934GSNUncertain significancers779431879RCV000272138; NMONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:854489124095086124095086GA9:g.124095086G>AClinGen:CA10626355C0002726 Amyloidosis;
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