MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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: Amyloidosis (D000686)
Parent Node: Corneal Dystrophies, Hereditary (D003317)
..Starting node ..Meretoja syndrome (C537459)
Child Nodes:
Sister Nodes:
..Bietti Crystalline Dystrophy (C535440)
..Brachymesomelia renal syndrome (C537096)
..Chorioretinal atrophy, progressive bifocal (C535356)
..Congenital Corneal Opacities, Cornea Guttata, and Corectopia (C563921)
..Corneal cerebellar syndrome (C535472)
..Corneal Degeneration, Ribbonlike, with Deafness (C565157)
..Corneal dystrophy and perceptive deafness (C535473)
..Corneal dystrophy Avellino type (C535474)
..Corneal dystrophy of Bowman layer, type 1 (C535476)
..Corneal Dystrophy, Band-Shaped (C562399)
..Corneal Dystrophy, Central Type (C563262)
..Corneal Dystrophy, Congenital Stromal (C566452)
..Corneal Dystrophy, Crystalline, of Schnyder (C535475)
..Corneal Dystrophy, Endothelial, X-Linked (C567587)
..Corneal Dystrophy, Fleck (C563256)
..Corneal dystrophy, gelatinous drop-like (C535480)
..Corneal Dystrophy, Juvenile Epithelial of Meesmann (D053559)
..Corneal Dystrophy, Lattice Type IIIA (C563923)
..Corneal Dystrophy, Lisch Epithelial (C567588)
..Corneal Dystrophy, Posterior Amorphous (C567546)
..Corneal Dystrophy, Posterior Polymorphous, 1 (C562745)
..Corneal Dystrophy, Posterior Polymorphous, 2 (C565176)
..Corneal Dystrophy, Posterior Polymorphous, 3 (C563788)
..Corneal Dystrophy, Subepithelial Mucinous (C567547)
..Corneal dystrophy, Thiel-Behnke type (C535942)
..Corneal Endothelial Dystrophy 1 (C565156)
..Corneal endothelial dystrophy type 2 (C536439)
..Corneodermatoosseous syndrome (C536444)
..Dermochondrocorneal dystrophy of Fran莽ois (C535375)
..EDICT SYNDROME (OMIM:614303)
..Endothelial Dystrophy, Congenital Hereditary, with Nail Hypoplasia (C565591)
..Epithelial Recurrent Erosion Dystrophy (C565155)
..Fuchs' Endothelial Dystrophy (D005642) 10
..Groenouw type I corneal dystrophy (C537304)
..Ichthyosiform erythroderma, corneal involvement, deafness (C537363)
..Judge Misch Wright syndrome (C537692)
..Kuster Majewski Hammerstein syndrome (C538125)
..Lattice corneal dystrophy type 1 (C537881)
..Macular Corneal Dystrophy, Type II (C563270)
..Macular dystrophy, corneal type 1 (C537834)
..Macular Dystrophy, Fenestrated Sheen Type (C563607)
..Macular dystrophy, retinal, 1, North Carolina type (C537835)
..Macular Dystrophy, Retinal, 2 (C562746)
..Meretoja syndrome (C537459)
..MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS (OMIM:615458)
..Mousa Al din Al Nassar syndrome (C536989)
..O'Donnell Pappas syndrome (C537858)
..Oculodental syndrome Rutherfurd syndrome (C537732)
..Pseudoinflammatory fundus dystrophy, Finnish type (C535828)
..Sammartino De Crecchio Syndrome (C537229)
..Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy (C566660)
..Sveinsson 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:

Slim Mappings:

Eye disease|Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: C537459
MeSH: C537459
OMIM: 105120;
MSeqDR :
Genes: GSN;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003581	Adult onset
3	HP:0001438	Abnormality of abdomen morphology
4	HP:0001283	Bulbar palsy
5	HP:0030843	Cardiac amyloidosis
6	HP:0001638	Cardiomyopathy
7	HP:0000973	Cutis laxa
8	HP:0003216	Generalized amyloid deposition
9	HP:0001149	Lattice corneal dystrophy
10	HP:0000100	Nephrotic syndrome NAMDC: Nephrotic syndrome
11	HP:0001271	Polyneuropathy
12	HP:0000083	Renal insufficiency

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_198252.3(GSN):c.-9-2137C>T	2934	GSN	Uncertain significance	886063404	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.-9-2091_-9-2064del	2934	GSN	Conflicting interpretations of pathogenicity	764841269	RCV000723091\|RCV002424740\|RCV003338770;	N	MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448	9	124062147	124062174	NC_000009.11:g.124062150_124062177del	-
NM_198252.3(GSN):c.-9-2057_-9-2037dup	2934	GSN	Uncertain significance	762432847	RCV001958440\|RCV002497842\|RCV002331512;	N	MedGen:C3661900\|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448\|MeSH:D030342,MedGen:C0950123	9	124062172	124062173	124062172	-
NM_198252.3(GSN):c.-9-2066_-9-2060del	2934	GSN	Uncertain significance	1564468965	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	762432847	RCV001928181\|RCV002503582;	N	MedGen:C3661900\|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	1371504521	RCV002004011\|RCV002492335;	N	MedGen:C3661900\|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	1202263036	RCV002050998\|RCV002482426;	N	MedGen:C3661900\|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	1048849212	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	886063405	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	751499422	RCV001904078\|RCV002386611\|RCV002478132;	N	MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448	9	124062235	124062249	124062234	-
NM_198252.3(GSN):c.-9-1987dup	2934	GSN	Likely pathogenic	-1	RCV003158015;	N	MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448	9	124062249	124062250		-
NM_198252.3(GSN):c.-9-1967C>T	2934	GSN	Benign/Likely benign	372837702	RCV001169574\|RCV001819870\|RCV002068043;	N	MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448\|MedGen:CN169374\|MedGen:C3661900	9	124062274	124062274	9:g.124062274C>T	-
NM_198252.3(GSN):c.-9-1951G>T	2934	GSN	Likely benign	772288409	RCV002137425\|RCV002500080;	N	MedGen:C3661900\|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	568885924	RCV002163829\|RCV002486976;	N	MedGen:C3661900\|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	1268467289	RCV002137422\|RCV002486911;	N	MedGen:C3661900\|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448	9	124062299	124062299	124062299	-
NM_198252.3(GSN):c.-4C>G	2934	GSN	Uncertain significance	2059919681	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	138068754	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	115224458	RCV000365448\|RCV000956748;	N	MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448\|MedGen:C3661900	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	774617795	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	200027070	RCV001165600\|RCV002068006;	N	MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448\|MedGen:C3661900	9	124064375	124064375	9:g.124064375C>T	-
NM_198252.3(GSN):c.162C>G (p.Asn54Lys)	2934	GSN	Uncertain significance	146365204	RCV002045254\|RCV002486641;	N	MedGen:C3661900\|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	556563870	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	144551136	RCV002152275\|RCV002500085;	N	MedGen:C3661900\|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448	9	124064435	124064435	124064435	-
NM_198252.3(GSN):c.196+7C>T	2934	GSN	Benign	146379508	RCV000371221\|RCV000879016;	N	MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448\|MedGen:C3661900	9	124064452	124064452	9:g.124064452C>T	ClinGen:CA5220785	C0002726 Amyloidosis;
NM_198252.3(GSN):c.197-4G>A	2934	GSN	Benign/Likely benign	375172023	RCV002162160\|RCV002498121\|RCV002337185;	N	MedGen:C3661900\|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448\|MeSH:D030342,MedGen:C0950123	9	124065185	124065185	124065185	-
NM_198252.3(GSN):c.228G>A (p.Ala76=)	2934	GSN	Conflicting interpretations of pathogenicity	761824852	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	140734150	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	2230287	RCV000276675\|RCV001692064;	N	MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448\|MedGen:C3661900	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	766055612	RCV002031488\|RCV002361416\|RCV002479827;	N	MedGen:C3661900\|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	116956127	RCV000317499\|RCV000881338\|RCV002374605\|RCV001821110;	N	MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MedGen:CN169374	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	146956976	RCV000372173\|RCV001865245\|RCV002328888;	N	MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448\|MedGen:C3661900\|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	138153246	RCV002026059\|RCV002331624\|RCV002492369;	N	MedGen:C3661900\|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	548138013	RCV000914646\|RCV002495516;	N	MedGen:C3661900\|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	142155964	RCV002147871\|RCV002500097;	N	MedGen:C3661900\|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	373779982	RCV002108823\|RCV002500155;	N	MedGen:C3661900\|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	367933536	RCV001973981\|RCV002484901;	N	MedGen:C3661900\|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/Likely benign	41305623	RCV000282194\|RCV000957620\|RCV001821111;	N	MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448\|MedGen:C3661900\|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	186654124	RCV000895499\|RCV002501499;	N	MedGen:C3661900\|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	368197143	RCV001928371\|RCV002344024\|RCV002490276;	N	MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448	9	124073007	124073007	124073007	-
NM_198252.3(GSN):c.397G>A (p.Val133Met)	2934	GSN	Conflicting interpretations of pathogenicity	368197143	RCV001898733\|RCV002343999\|RCV002490214;	N	MedGen:C3661900\|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	750132751	RCV001167187\|RCV001873548\|RCV003246740;	N	MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	9	124073037	124073037	9:g.124073037G>A	-
NM_198252.3(GSN):c.431G>A (p.Arg144Gln)	2934	GSN	Likely benign	144099356	RCV002170312\|RCV002507872\|RCV002352789;	N	MedGen:C3661900\|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448\|MeSH:D030342,MedGen:C0950123	9	124073041	124073041	124073041	-
NM_198252.3(GSN):c.440T>C (p.Val147Ala)	2934	GSN	Uncertain significance	2061027102	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	1355688870	RCV001989851\|RCV002492099;	N	MedGen:C3661900\|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	121909715	RCV000017564\|RCV000489240\|RCV002362587;	N	MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448\|MedGen:C3661900\|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	121909715	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	2061035565	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	765499763	RCV001967744\|RCV002361274\|RCV002484711;	N	MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448	9	124073123	124073123	124073123	-
NM_198252.3(GSN):c.513+1G>A	2934	GSN	Uncertain significance	138677601	RCV001942763\|RCV002490025;	N	MedGen:C3661900\|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	79969850	RCV002119578\|RCV002507981;	N	MedGen:C3661900\|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	11550199	RCV000961960\|RCV001167190;	N	MedGen:C3661900\|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	752698745	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	371175865	RCV001167762\|RCV002365818\|RCV002558654;	N	MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448\|MeSH:D030342,MedGen:C0950123\|MedGen:C3661900	9	124074650	124074650	9:g.124074650C>T	-
NM_198252.3(GSN):c.597C>T (p.Asn199=)	2934	GSN	Benign/Likely benign	146329975	RCV000967138\|RCV002505460;	N	MedGen:C3661900\|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	774085705	RCV002016213\|RCV002492348;	N	MedGen:C3661900\|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	376060588	RCV001508266\|RCV002488308;	N	MedGen:C3661900\|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	371320840	RCV001987444\|RCV002563422\|RCV002479540;	N	MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448	9	124074741	124074741	124074741	-
NM_198252.3(GSN):c.664-4A>G	2934	GSN	Benign/Likely benign	143590302	RCV000890781\|RCV001167763;	N	MedGen:C3661900\|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	754268709	RCV001887712\|RCV002489956;	N	MedGen:C3661900\|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	377624593	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	751823302	RCV002120149\|RCV002494259;	N	MedGen:C3661900\|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	369830648	RCV002051081\|RCV002307768\|RCV002370360\|RCV002489927;	N	MedGen:C3661900\|MedGen:CN169374\|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	374057474	RCV001167764\|RCV002068028;	N	MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448\|MedGen:C3661900	9	124079353	124079353	9:g.124079353C>T	-
NM_198252.3(GSN):c.754-8C>T	2934	GSN	Likely benign	757725237	RCV002507885\|RCV002189706;	N	MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448\|MedGen:C3661900	9	124079356	124079356	124079356	-
NM_198252.3(GSN):c.761A>G (p.Asn254Ser)	2934	GSN	Uncertain significance	756193920	RCV001988793\|RCV002492278;	N	MedGen:C3661900\|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	770943559	RCV001929542\|RCV002507597;	N	MedGen:C3661900\|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	745588757	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	761334580	RCV001875508\|RCV002482686;	N	MedGen:C3661900\|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	151155909	RCV002020059\|RCV002492322\|RCV002657672;	N	MedGen:C3661900\|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	768148669	RCV002189876\|RCV002498180;	N	MedGen:C3661900\|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	201952723	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	200255784	RCV002187546\|RCV002498176;	N	MedGen:C3661900\|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	200255784	RCV002189025\|RCV002505866;	N	MedGen:C3661900\|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	2061970047	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	1157815026	RCV001900247\|RCV002490071;	N	MedGen:C3661900\|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	751431867	RCV001727485\|RCV002343804\|RCV002488485;	N	MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448	9	124080964	124080964	124080964	-
NM_198252.3(GSN):c.998G>T (p.Gly333Val)	2934	GSN	Uncertain significance	1014328091	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	528161256	RCV000918206\|RCV001253934;	N	MedGen:C3661900\|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	372681751	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	375323203	RCV001881581\|RCV002482682\|RCV002397844;	N	MedGen:C3661900\|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448\|MeSH:D030342,MedGen:C0950123	9	124081063	124081063	124081063	-
NM_198252.3(GSN):c.1098G>A (p.Val366=)	2934	GSN	Benign/Likely benign	201325199	RCV000397866\|RCV002061311\|RCV002411260;	N	MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	9	124081065	124081065	NC_000009.11:g.124081065G>A	ClinGen:CA5221145	C0002726 Amyloidosis;
NM_198252.3(GSN):c.1103G>A (p.Arg368Gln)	2934	GSN	Conflicting interpretations of pathogenicity	781764487	RCV002022738\|RCV002423235\|RCV002486645;	N	MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448	9	124081070	124081070	124081070	-
NM_198252.3(GSN):c.1170C>T (p.Asp390=)	2934	GSN	Benign/Likely benign	147583697	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	142034230	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	368537807	RCV001996958\|RCV002386803\|RCV002484769;	N	MedGen:C3661900\|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	372713895	RCV000343885\|RCV001865246\|RCV002379252;	N	MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	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	377308627	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	368079865	RCV002029848\|RCV002386588\|RCV002489911;	N	MedGen:C3661900\|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	140042418	RCV000390100\|RCV001729569\|RCV002379253\|RCV003151049;	N	MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MedGen:CN169374	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	149375418	RCV000308967\|RCV000956749\|RCV001796018\|RCV002392923;	N	MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448\|MedGen:C3661900\|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	2304393	RCV000349867\|RCV001643104;	N	MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448\|MedGen:C3661900	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	116185403	RCV000398476\|RCV000882012\|RCV001821112\|RCV002392924;	N	MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448\|MedGen:C3661900\|MedGen:CN169374\|MeSH:D030342,MedGen:C0950123	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	2062427908	RCV001265608;	N	MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448	9	124083678	124083678	9:g.124083678T>C	OMIM:137350.0004
NM_198252.3(GSN):c.1325+14G>A	2934	GSN	Likely benign	113863232	RCV002138777\|RCV002505811;	N	MedGen:C3661900\|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448	9	124083693	124083693	124083693	-
NM_198252.3(GSN):c.1326-1036C>T	2934	GSN	Uncertain significance	-1	RCV003448628;	N	MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448	9	124085796	124085796		-
NM_198252.3(GSN):c.1416+16C>T	2934	GSN	Benign/Likely benign	116723395	RCV002129502\|RCV002494264;	N	MedGen:C3661900\|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	747631468	RCV002204324\|RCV002500442;	N	MedGen:C3661900\|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448	9	124086939	124086939	124086939	-
NM_198252.3(GSN):c.1417-22T>C	2934	GSN	Benign	306769	RCV001688706\|RCV001703056;	N	MedGen:C3661900\|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	370997492	RCV001866446\|RCV002482455;	N	MedGen:C3661900\|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	138341672	RCV001947460\|RCV002478165;	N	MedGen:C3661900\|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	142828669	RCV000314461\|RCV001850932\|RCV002402079;	N	MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448\|MedGen:C3661900\|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	766945413	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	1468193571	RCV001923231\|RCV002503578;	N	MedGen:C3661900\|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	200156774	RCV000938536\|RCV001165664;	N	MedGen:C3661900\|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	375902120	RCV001942791\|RCV002397804\|RCV002490026;	N	MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448	9	124088817	124088817	124088817	-
NM_198252.3(GSN):c.1485C>T (p.Ile495=)	2934	GSN	Benign/Likely benign	374982895	RCV002105644\|RCV002494238\|RCV003151386;	N	MedGen:C3661900\|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448\|MedGen:CN169374	9	124088858	124088858	124088858	-
NM_198252.3(GSN):c.1487A>G (p.Tyr496Cys)	2934	GSN	Benign/Likely benign	139832048	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	199681748	RCV002041380\|RCV002482400;	N	MedGen:C3661900\|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	998869731	RCV001945059\|RCV002484483\|RCV002556363;	N	MedGen:C3661900\|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	58750568	RCV000260878\|RCV002061313\|RCV002402081\|RCV003151050;	N	MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MedGen:CN169374	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	77681311	RCV000297409\|RCV002058767;	N	MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448\|MedGen:C3661900	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	148410442	RCV001938852\|RCV002484617\|RCV002397935;	N	MedGen:C3661900\|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	780840732	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	769400986	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	147554026	RCV000262080\|RCV001531107\|RCV002402082;	N	MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448\|MedGen:C3661900\|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	140414249	RCV000321730\|RCV002058768\|RCV002402083;	N	MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	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	1220983184	RCV001903197\|RCV002490171;	N	MedGen:C3661900\|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	528604896	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	2063220897	RCV001196370;	N	MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448	9	124088958	124088958	9:g.124088958G>A	OMIM:137350.0003
NM_198252.3(GSN):c.1637A>G (p.Lys546Arg)	2934	GSN	Benign/Likely benign	184844415	RCV002186915\|RCV002498155;	N	MedGen:C3661900\|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	777955781	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	2063344146	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	151208452	RCV000267836\|RCV000908629\|RCV001821113\|RCV002411261;	N	MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448\|MedGen:C3661900\|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	73660439	RCV000909831\|RCV001167840;	N	MedGen:C3661900\|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	368207411	RCV002018941\|RCV002479644;	N	MedGen:C3661900\|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448	9	124089688	124089688	124089688	-
NM_198252.3(GSN):c.1694C>T (p.Thr565Met)	2934	GSN	Benign	76463933	RCV000322979\|RCV001683444;	N	MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448\|MedGen:C3661900	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	567372749	RCV001167841\|RCV002067824\|RCV002411660;	N	MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448\|MedGen:C3661900\|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	757684181	RCV002008224\|RCV002407240\|RCV002507753;	N	MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448	9	124089760	124089760	124089760	-
NM_198252.3(GSN):c.1762+20del	2934	GSN	Benign/Likely benign	895358104	RCV002079210\|RCV002494336;	N	MedGen:C3661900\|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	1274106245	RCV002134067\|RCV002500259;	N	MedGen:C3661900\|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448	9	124089779	124089779	124089779	-
NM_198252.3(GSN):c.1763-34G>A	2934	GSN	Benign	306771	RCV001655442\|RCV001702946;	N	MedGen:C3661900\|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	750829888	RCV002099253\|RCV002500139;	N	MedGen:C3661900\|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	139239940	RCV000381432\|RCV000964310\|RCV002411262\|RCV001821114;	N	MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448\|MedGen:C3661900\|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	9696578	RCV000890782\|RCV001167842;	N	MedGen:C3661900\|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	9696578	RCV001931420\|RCV002484621;	N	MedGen:C3661900\|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	756053203	RCV001990094\|RCV002484788\|RCV003226508;	N	MedGen:C3661900\|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448\|MedGen:CN169374	9	124091276	124091276	124091276	-
NM_198252.3(GSN):c.1874T>C (p.Ile625Thr)	2934	GSN	Benign	777767455	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	896776181	RCV002031375\|RCV002423285\|RCV002492401;	N	MedGen:C3661900\|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	147527479	RCV002083763\|RCV002486856;	N	MedGen:C3661900\|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	2133938132	RCV002037191\|RCV002506867;	N	MedGen:C3661900\|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	144434647	RCV000291668\|RCV000891402\|RCV002418218;	N	MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448\|MedGen:C3661900\|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	759980004	RCV002117891\|RCV002508017;	N	MedGen:C3661900\|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	752572521	RCV002023079\|RCV002423259\|RCV002479783;	N	MedGen:C3661900\|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	886063406	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	886063407	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	758909359	RCV002100031\|RCV002498328;	N	MedGen:C3661900\|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	545428148	RCV001876394\|RCV002482462\|RCV002425114;	N	MedGen:C3661900\|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448\|MeSH:D030342,MedGen:C0950123	9	124094726	124094726	124094726	-
NM_198252.3(GSN):c.2045C>T (p.Thr682Met)	2934	GSN	Likely benign	142854368	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	747385746	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	770023727	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	148360076	RCV001960334\|RCV002492055;	N	MedGen:C3661900\|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	141510612	RCV001169719\|RCV001859099\|RCV002559627;	N	MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	9	124094754	124094754	9:g.124094754G>A	-
NM_198252.3(GSN):c.2082C>T (p.Thr694=)	2934	GSN	Likely benign	368986042	RCV002073604\|RCV002507930;	N	MedGen:C3661900\|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	9102	RCV000352565\|RCV001595002;	N	MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448\|MedGen:C3661900	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	750858951	RCV001883190\|RCV002490081;	N	MedGen:C3661900\|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448	9	124094820	124094820	124094819	-
NM_198252.3(GSN):c.*28G>A	2934	GSN	Uncertain significance	376801564	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	903037306	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	886063411	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	757682798	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	886063412	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	779431879	RCV000272138;	N	MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120, Orphanet:85448	9	124095086	124095086	9:g.124095086G>A	ClinGen:CA10626355	C0002726 Amyloidosis;

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