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

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