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: Macular Degeneration (D008268)
..Starting node ..Macular Degeneration, Age-Related, 3 (C563838)
Child Nodes:
Sister Nodes:
..Ectodermal dysplasia, ectrodactyly, and macular dystrophy (C536190)
..Fundus Dystrophy, Pseudoinflammatory, Of Sorsby (C564992)
..Geographic Atrophy (D057092)
..Juvenile macular degeneration and hypotrichosis (C537698)
..Macular Degeneration, Age-Related, 1 (C566411)
..Macular Degeneration, Age-Related, 10 (C566935)
..Macular Degeneration, Age-Related, 11 (C567450)
..MACULAR DEGENERATION, AGE-RELATED, 12 (OMIM:613784)
..MACULAR DEGENERATION, AGE-RELATED, 13 (OMIM:615439)
..MACULAR DEGENERATION, AGE-RELATED, 14 (OMIM:615489)
..MACULAR DEGENERATION, AGE-RELATED, 15 (OMIM:615591)
..Macular Degeneration, Age-Related, 2 (C562479)
..Macular Degeneration, Age-Related, 3 (C563838)
..Macular Degeneration, Age-Related, 4 (C565196)
..MACULAR DEGENERATION, AGE-RELATED, 5 (OMIM:613761)
..Macular Degeneration, Age-Related, 6 (C563674)
..Macular Degeneration, Age-Related, 7 (C565718)
..MACULAR DEGENERATION, AGE-RELATED, 8 (OMIM:613778)
..Macular Degeneration, Age-Related, 9 (C566958)
..MACULAR DEGENERATION, EARLY-ONSET (OMIM:616118)
..MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT (OMIM:616170)
..Macular dystrophy, concentric annular (C537833)
..MACULAR DYSTROPHY, RETINAL, 3 (OMIM:608850)
..Macular Dystrophy, X-Linked (C564110)
..Macular Edema (D008269)
..Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders (C565786)
..OCCULT MACULAR DYSTROPHY (OMIM:613587)
..Stargardt disease 1 (C535804)
..Stargardt disease 3 (C535805)
..Stargardt disease 4 (C535521)
..Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features (C548086)
..Vitelliform Macular Dystrophy (D057826) 2
..Wet Macular Degeneration (D057135)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

7321

Name:

Macular Degeneration, Age-Related, 3

Definition:

Alternative IDs:

OMIM:608895

ParentIDs:

MESH:D008268

TreeNumbers:

C11.768.585.439/C563838

Synonyms:

ARMD3, INCLUDED |HNARMD |MACULAR DEGENERATION, AGE-RELATED, 3, INCLUDED |NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION

Slim Mappings:

Eye disease

Reference:

MedGen: C563838
MeSH: C563838
OMIM: 608895;
MSeqDR :
Genes: FBLN5; SUCLG1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0007868	Age-related macular degeneration	HP:0040284
3	HP:0011506	Choroidal neovascularization
4	HP:0000762	Decreased nerve conduction velocity	HP:0040283
5	HP:0011808	Decreased patellar reflex	HP:0040284
6	HP:0003693	Distal amyotrophy	HP:0040284
7	HP:0002460	Distal muscle weakness NAMDC: Muscle weakness: distal	HP:0040284
8	HP:0002936	Distal sensory impairment	HP:0040281
9	HP:0011510	Drusen
10	HP:0000974	Hyperextensible skin	HP:0040284
11	HP:0001382	Joint hypermobility	HP:0040284
12	HP:0003477	Peripheral axonal neuropathy NAMDC: Neuropathy axonal	HP:0040284
13	HP:0001761	Pes cavus

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_006329.4(FBLN5):c.*775A>C	10516	FBLN5	Uncertain significance	886050885	RCV000259888\|RCV000355089;	N	MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209	14	92335793	92335793	NC_000014.8:g.92335793T>G	ClinGen:CA10646528	CN239277 Cutis Laxa, Dominant/Recessive;
NM_006329.4(FBLN5):c.*653G>A	10516	FBLN5	Uncertain significance	886050886	RCV000300990\|RCV000355807;	N	Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209\|MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598	14	92335915	92335915	NC_000014.8:g.92335915C>T	ClinGen:CA10646529	CN239277 Cutis Laxa, Dominant/Recessive;
NM_006329.4(FBLN5):c.*648G>A	10516	FBLN5	Conflicting interpretations of pathogenicity	182435130	RCV000275616\|RCV000330737;	N	MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209	14	92335920	92335920	NC_000014.8:g.92335920C>T	ClinGen:CA10646537	CN239277 Cutis Laxa, Dominant/Recessive;
NM_006329.4(FBLN5):c.*647C>T	10516	FBLN5	Benign/Likely benign	10197	RCV000276799\|RCV000389826;	N	MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209	14	92335921	92335921	NC_000014.8:g.92335921G>A	ClinGen:CA10646541	CN239277 Cutis Laxa, Dominant/Recessive;
NM_006329.4(FBLN5):c.*623A>T	10516	FBLN5	Benign	77357345	RCV000326978\|RCV000381559\|RCV001690047;	N	MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209\|MedGen:C3661900	14	92335945	92335945	NC_000014.8:g.92335945T>A	ClinGen:CA10641268	CN239277 Cutis Laxa, Dominant/Recessive;
NM_006329.4(FBLN5):c.*514A>G	10516	FBLN5	Benign/Likely benign	17804735	RCV000291918\|RCV000346873\|RCV001785560;	N	MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209\|MedGen:C3661900	14	92336054	92336054	NC_000014.8:g.92336054T>C	ClinGen:CA10646547	CN239277 Cutis Laxa, Dominant/Recessive;
NM_006329.4(FBLN5):c.*458T>C	10516	FBLN5	Uncertain significance	886050887	RCV000282805\|RCV000377373;	N	Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209\|MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598	14	92336110	92336110	NC_000014.8:g.92336110A>G	ClinGen:CA10641269	CN239277 Cutis Laxa, Dominant/Recessive;
NM_006329.4(FBLN5):c.*426C>T	10516	FBLN5	Uncertain significance	553193064	RCV001119684\|RCV001119685;	N	Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209\|MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598	14	92336142	92336142	14:g.92336142G>A	-
NM_006329.4(FBLN5):c.*423T>C	10516	FBLN5	Benign/Likely benign	17731705	RCV000342425\|RCV000404688;	N	Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209\|MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598	14	92336145	92336145	NC_000014.8:g.92336145A>G	ClinGen:CA10645269	CN239277 Cutis Laxa, Dominant/Recessive;
NM_006329.4(FBLN5):c.*419G>C	10516	FBLN5	Uncertain significance	1451509746	RCV001121670\|RCV001121669;	N	MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209	14	92336149	92336149	14:g.92336149C>G	-
NM_006329.4(FBLN5):c.*363C>T	10516	FBLN5	Uncertain significance	536827304	RCV000298242\|RCV000334552;	N	Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209\|MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598	14	92336205	92336205	NC_000014.8:g.92336205G>A	ClinGen:CA10635521	CN239277 Cutis Laxa, Dominant/Recessive;
NM_006329.4(FBLN5):c.*329T>C	10516	FBLN5	Benign	115237925	RCV000299436\|RCV000395898;	N	MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209	14	92336239	92336239	NC_000014.8:g.92336239A>G	ClinGen:CA10641273	CN239277 Cutis Laxa, Dominant/Recessive;
NM_006329.4(FBLN5):c.*326G>A	10516	FBLN5	Benign	79375113	RCV000273686\|RCV000368274;	N	Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209\|MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598	14	92336242	92336242	NC_000014.8:g.92336242C>T	ClinGen:CA10641274	CN239277 Cutis Laxa, Dominant/Recessive;
NM_006329.4(FBLN5):c.*121C>T	10516	FBLN5	Uncertain significance	548351890	RCV001116793\|RCV001116794;	N	MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209	14	92336447	92336447	14:g.92336447G>A	-
NM_006329.4(FBLN5):c.*98G>A	10516	FBLN5	Uncertain significance	568348723	RCV000314777\|RCV000369502;	N	MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209	14	92336470	92336470	NC_000014.8:g.92336470C>T	ClinGen:CA10646549	CN239277 Cutis Laxa, Dominant/Recessive;
NM_006329.4(FBLN5):c.*77T>A	10516	FBLN5	Uncertain significance	1326922015	RCV001116796\|RCV001116795;	N	Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209\|MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598	14	92336491	92336491	14:g.92336491A>T	-
NM_006329.4(FBLN5):c.1241G>A (p.Arg414Gln)	10516	FBLN5	Conflicting interpretations of pathogenicity	142907552	RCV001116797\|RCV001116798\|RCV001856533;	N	MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209\|MedGen:CN517202	14	92336674	92336674	14:g.92336674C>T	-
NM_006329.4(FBLN5):c.1235G>A (p.Gly412Glu)	10516	FBLN5	Uncertain significance	121434303	RCV000005817\|RCV002512815\|RCV003447075;	N	MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|MedGen:C3661900\|MONDO:MONDO:0005150,MedGen:C0242383,OMIM:PS603075, Orphanet:279	14	92336680	92336680	14:g.92336680C>T	ClinGen:CA213148,UniProtKB:Q9UBX5#VAR_019820,OMIM:604580.0009	C1837187 608895 Age-related macular degeneration 3;
NM_006329.4(FBLN5):c.1201_1202del (p.Ser401fs)	10516	FBLN5	Pathogenic	1595286986	RCV000850551;	N	MONDO:MONDO:0013751,MedGen:C3280794,OMIM:614434, Orphanet:90348; MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598; MONDO:MONDO:0009052,MedGen:C0268351,OMIM:219100, Orphanet:90349	14	92336713	92336714	14:g.92336713_92336714del	-
NM_006329.4(FBLN5):c.1191G>A (p.Thr397=)	10516	FBLN5	Conflicting interpretations of pathogenicity	148660796	RCV000270558\|RCV000325555\|RCV000910443;	N	MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209\|MedGen:C3661900	14	92336724	92336724	NC_000014.8:g.92336724C>T	ClinGen:CA7312583	CN239277 Cutis Laxa, Dominant/Recessive;
NM_006329.4(FBLN5):c.1183C>T (p.Arg395Trp)	10516	FBLN5	Uncertain significance	372650987	RCV000477790\|RCV002525743;	N	MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598; MONDO:MONDO:0013751,MedGen:C3280794,OMIM:614434, Orphanet:90348; MONDO:MONDO:0009052,MedGen:C0268351,OMIM:219100, Orphanet:90349\|MedGen:CN517202	14	92343833	92343833	NC_000014.8:g.92343833G>A	ClinGen:CA7312607	C1837187 608895 Age-related macular degeneration 3;
NM_006329.4(FBLN5):c.1122C>T (p.Tyr374=)	10516	FBLN5	Benign	145515678	RCV000271644\|RCV000384748\|RCV000440919\|RCV001705473;	N	MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209\|MedGen:CN169374\|MedGen:C3661900	14	92343894	92343894	NC_000014.8:g.92343894G>A	ClinGen:CA7312615	CN239277 Cutis Laxa, Dominant/Recessive;
NM_006329.4(FBLN5):c.1113G>A (p.Thr371=)	10516	FBLN5	Benign/Likely benign	560780691	RCV000320794\|RCV000380081\|RCV000964339;	N	MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209\|MedGen:C3661900	14	92343903	92343903	NC_000014.8:g.92343903C>T	ClinGen:CA7312618	CN239277 Cutis Laxa, Dominant/Recessive;
NM_006329.4(FBLN5):c.1087G>A (p.Ala363Thr)	10516	FBLN5	Conflicting interpretations of pathogenicity	121434302	RCV000005816\|RCV001851680\|RCV003447074;	N	MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|MedGen:C3661900\|MONDO:MONDO:0005150,MedGen:C0242383,OMIM:PS603075, Orphanet:279	14	92343929	92343929	14:g.92343929C>T	ClinGen:CA213146,UniProtKB:Q9UBX5#VAR_019819,OMIM:604580.0008	C1837187 608895 Age-related macular degeneration 3;
NM_006329.4(FBLN5):c.1063G>C (p.Val355Leu)	10516	FBLN5	Uncertain significance	754104809	RCV001118252\|RCV001118251;	N	Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209\|MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598	14	92343953	92343953	14:g.92343953C>G	-
NM_006329.4(FBLN5):c.1051C>T (p.Arg351Trp)	10516	FBLN5	Uncertain significance	28939073	RCV000005815\|RCV001119789\|RCV001577844\|RCV002251883\|RCV002490323\|RCV003447073;	N	MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209\|MedGen:C3661900\|\|MONDO:MONDO:0009052,MedGen:C0268351,OMIM:219100, Orphanet:90349; MONDO:MONDO:0030689,MedG	14	92343965	92343965	14:g.92343965G>A	ClinGen:CA213144,UniProtKB:Q9UBX5#VAR_019818,OMIM:604580.0007	C1837187 608895 Age-related macular degeneration 3;
NM_006329.4(FBLN5):c.992G>A (p.Arg331His)	10516	FBLN5	Uncertain significance	774735234	RCV001843340\|RCV002034713\|RCV002290773;	N	MONDO:MONDO:0030689,MedGen:C5676926,OMIM:619764\|MedGen:C3661900\|MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598	14	92344024	92344024	92344024	OMIM:604580.0015
NM_006329.4(FBLN5):c.989+13G>A	10516	FBLN5	Benign	74071605	RCV000150690\|RCV000285676\|RCV000335950\|RCV001812121;	N	MedGen:CN169374\|MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209\|MedGen:C3661900	14	92347623	92347623	14:g.92347623C>T	ClinGen:CA176109	CN239277 Cutis Laxa, Dominant/Recessive;
NM_006329.4(FBLN5):c.989+9C>T	10516	FBLN5	Conflicting interpretations of pathogenicity	557362799	RCV000281897\|RCV000371742\|RCV000980663;	N	MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209\|MedGen:C3661900	14	92347627	92347627	NC_000014.8:g.92347627G>A	ClinGen:CA7312683	CN239277 Cutis Laxa, Dominant/Recessive;
NM_006329.4(FBLN5):c.945T>C (p.Ile315=)	10516	FBLN5	Benign	2430347	RCV000150685\|RCV000336959\|RCV000403489\|RCV001701769\|RCV001701618\|RCV002055972;	N	MedGen:CN169374\|MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209\|MONDO:MONDO:0013751,MedGen:C3280794,OMIM:614434, Orphanet:90348\|MONDO:MONDO:0009052,MedGe	14	92347680	92347680	14:g.92347680A>G	ClinGen:CA176099	CN239277 Cutis Laxa, Dominant/Recessive;
NM_006329.4(FBLN5):c.901C>A (p.Leu301Met)	10516	FBLN5	Uncertain significance	377360782	RCV001121772\|RCV001121773\|RCV001562423\|RCV003447317;	N	MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209\|MedGen:C3661900\|MONDO:MONDO:0019571,MedGen:C0268350, Orphanet:90348	14	92347724	92347724	14:g.92347724G>T	-
NM_006329.4(FBLN5):c.863-13C>T	10516	FBLN5	Benign	74071606	RCV000150691\|RCV000292240\|RCV000351829\|RCV001812122;	N	MedGen:CN169374\|MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209\|MedGen:C3661900	14	92347775	92347775	14:g.92347775G>A	ClinGen:CA176110	CN239277 Cutis Laxa, Dominant/Recessive;
NM_006329.4(FBLN5):c.862+12C>T	10516	FBLN5	Conflicting interpretations of pathogenicity	202088447	RCV000307466\|RCV000395579\|RCV002061169;	N	Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209\|MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|MedGen:C3661900	14	92349286	92349286	NC_000014.8:g.92349286G>A	ClinGen:CA7312725	CN239277 Cutis Laxa, Dominant/Recessive;
NM_006329.4(FBLN5):c.726C>G (p.Gly242=)	10516	FBLN5	Uncertain significance	148209555	RCV001115209\|RCV001115208;	N	MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209	14	92353550	92353550	14:g.92353550G>C	-
NM_006329.4(FBLN5):c.714T>A (p.Leu238=)	10516	FBLN5	Benign/Likely benign	141152607	RCV000362359\|RCV000395642\|RCV000916009;	N	Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209\|MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|MedGen:C3661900	14	92353562	92353562	NC_000014.8:g.92353562A>T	ClinGen:CA7312758	CN239277 Cutis Laxa, Dominant/Recessive;
NM_006329.4(FBLN5):c.676G>A (p.Gly226Ser)	10516	FBLN5	Conflicting interpretations of pathogenicity	747288805	RCV000308840\|RCV000358898\|RCV001850661;	N	Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209\|MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|MedGen:CN517202	14	92353600	92353600	NC_000014.8:g.92353600C>T	ClinGen:CA7312762	CN239277 Cutis Laxa, Dominant/Recessive;
NM_006329.4(FBLN5):c.621T>C (p.Asp207=)	10516	FBLN5	Conflicting interpretations of pathogenicity	200178859	RCV000264837\|RCV000324728\|RCV000390841;	N	Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209\|MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|MedGen:C3661900	14	92353655	92353655	14:g.92353655A>G	ClinGen:CA7312778	CN239277 Cutis Laxa, Dominant/Recessive;
NM_006329.4(FBLN5):c.620-8T>C	10516	FBLN5	Benign/Likely benign	147699855	RCV000218744\|RCV000261122\|RCV000360743\|RCV000883402;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209\|MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|MedGen:C3661900	14	92353664	92353664	14:g.92353664A>G	ClinGen:CA7312779	CN239277 Cutis Laxa, Dominant/Recessive;
NM_006329.4(FBLN5):c.604G>A (p.Gly202Arg)	10516	FBLN5	Conflicting interpretations of pathogenicity	80338765	RCV000020641\|RCV000375520\|RCV000316304\|RCV000427840\|RCV003447088;	N	MONDO:MONDO:0009052,MedGen:C0268351,OMIM:219100, Orphanet:90349\|Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209\|MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|MedGen:C3661900\|MONDO:MONDO:0019571,MedGe	14	92357580	92357580	14:g.92357580C>T	ClinGen:CA342101,UniProtKB:Q9UBX5#VAR_072391	CN033664 219100 Autosomal recessive cutis laxa type IA;
NM_006329.4(FBLN5):c.573A>G (p.Thr191=)	10516	FBLN5	Conflicting interpretations of pathogenicity	756288143	RCV001118352\|RCV001118353\|RCV002069913;	N	MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209\|MedGen:CN517202	14	92357611	92357611	14:g.92357611T>C	-
NM_006329.4(FBLN5):c.506T>C (p.Ile169Thr)	10516	FBLN5	Conflicting interpretations of pathogenicity	28939072	RCV000005814\|RCV003447072;	N	MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|MONDO:MONDO:0005150,MedGen:C0242383,OMIM:PS603075, Orphanet:279	14	92357678	92357678	14:g.92357678A>G	ClinGen:CA213142,UniProtKB:Q9UBX5#VAR_019817,OMIM:604580.0006	C1837187 608895 Age-related macular degeneration 3;
NM_006329.4(FBLN5):c.502+15G>C	10516	FBLN5	Benign	190933127	RCV000280970\|RCV000331384\|RCV000616517\|RCV001812822;	N	Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209\|MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|MedGen:CN169374\|MedGen:C3661900	14	92361279	92361279	NC_000014.8:g.92361279C>G	ClinGen:CA7312832	CN239277 Cutis Laxa, Dominant/Recessive;
NM_006329.4(FBLN5):c.388G>A (p.Glu130Lys)	10516	FBLN5	Uncertain significance	886050888	RCV000296650\|RCV000386387;	N	MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209	14	92361408	92361408	NC_000014.8:g.92361408C>T	ClinGen:CA10635524	CN239277 Cutis Laxa, Dominant/Recessive;
NM_006329.4(FBLN5):c.376G>A (p.Val126Met)	10516	FBLN5	Conflicting interpretations of pathogenicity	61734479	RCV000202603\|RCV000405354\|RCV000584853\|RCV001843304;	N	MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209\|MedGen:C3661900\|MONDO:MONDO:0030689,MedGen:C5676926,OMIM:619764	14	92403294	92403294	NC_000014.8:g.92403294C>T	ClinGen:CA213354,UniProtKB:Q9UBX5#VAR_072390,OMIM:604580.0014	C1837187 608895 Age-related macular degeneration 3;
NM_006329.4(FBLN5):c.336A>G (p.Ile112Met)	10516	FBLN5	Uncertain significance	1221579102	RCV001119891\|RCV001119890;	N	MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209	14	92403334	92403334	14:g.92403334T>C	-
NM_006329.4(FBLN5):c.273G>A (p.Pro91=)	10516	FBLN5	Conflicting interpretations of pathogenicity	368771780	RCV001119892\|RCV001119893\|RCV001574532;	N	Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209\|MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|MedGen:CN517202	14	92403397	92403397	14:g.92403397C>T	-
NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser)	10516	FBLN5	Conflicting interpretations of pathogenicity	144288844	RCV000202614\|RCV000521928\|RCV001249315\|RCV001121879\|RCV001843303\|RCV003447125;	N	MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|MedGen:C3661900\|MONDO:MONDO:0009052,MedGen:C0268351,OMIM:219100, Orphanet:90349; MONDO:MONDO:0013751,MedGen:C3280794,OMIM:614434, Orphanet:90348\|Human Phenotype Ontology:HP:0000973,MONDO:MONDO	14	92403402	92403402	NC_000014.8:g.92403402C>T	ClinGen:CA213355,UniProtKB:Q9UBX5#VAR_076290,OMIM:604580.0013	C1837187 608895 Age-related macular degeneration 3;
NM_006329.4(FBLN5):c.259C>T (p.Pro87Ser)	10516	FBLN5	Conflicting interpretations of pathogenicity	121434301	RCV000005813\|RCV003447071;	N	MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|MONDO:MONDO:0005150,MedGen:C0242383,OMIM:PS603075, Orphanet:279	14	92403411	92403411	14:g.92403411G>A	ClinGen:CA213140,UniProtKB:Q9UBX5#VAR_019816,OMIM:604580.0005	C1837187 608895 Age-related macular degeneration 3;
NM_006329.4(FBLN5):c.251A>G (p.Tyr84Cys)	10516	FBLN5	Uncertain significance	886050889	RCV000348011\|RCV000394125;	N	Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209\|MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598	14	92403419	92403419	NC_000014.8:g.92403419T>C	ClinGen:CA10641284	CN239277 Cutis Laxa, Dominant/Recessive;
NM_006329.4(FBLN5):c.245A>C (p.Asn82Thr)	10516	FBLN5	Uncertain significance	759508064	RCV001526878\|RCV002476839;	N	MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|MONDO:MONDO:0030689,MedGen:C5676926,OMIM:619764; MONDO:MONDO:0009052,MedGen:C0268351,OMIM:219100, Orphanet:90349; MONDO:MONDO:0013751,MedGen:C3280794,OMIM:614434, Orphanet:90348; MONDO:MONDO:001	14	92403425	92403425	92403425	-
NM_006329.4(FBLN5):c.212G>A (p.Arg71Gln)	10516	FBLN5	Uncertain significance	121434300	RCV000005812\|RCV001851679\|RCV003447070;	N	MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|MedGen:C3661900\|MONDO:MONDO:0005150,MedGen:C0242383,OMIM:PS603075, Orphanet:279	14	92403458	92403458	14:g.92403458C>T	ClinGen:CA213138,UniProtKB:Q9UBX5#VAR_019815,OMIM:604580.0004	C1837187 608895 Age-related macular degeneration 3;
NM_006329.4(FBLN5):c.178G>C (p.Val60Leu)	10516	FBLN5	Uncertain significance	121434299	RCV000005811\|RCV001851678\|RCV003447069;	N	MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|MedGen:C3661900\|MONDO:MONDO:0005150,MedGen:C0242383,OMIM:PS603075, Orphanet:279	14	92403492	92403492	14:g.92403492C>G	ClinGen:CA213136,UniProtKB:Q9UBX5#VAR_019814,OMIM:604580.0003	C1837187 608895 Age-related macular degeneration 3;
NM_006329.4(FBLN5):c.124+8C>A	10516	FBLN5	Uncertain significance	2056089374	RCV001121880\|RCV001121881;	N	Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209\|MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598	14	92406901	92406901	14:g.92406901G>T	-
NM_006329.4(FBLN5):c.-57G>A	10516	FBLN5	Benign/Likely benign	546827390	RCV000262943\|RCV000352947;	N	MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209	14	92413630	92413630	NC_000014.8:g.92413630C>T	ClinGen:CA10641287	CN239277 Cutis Laxa, Dominant/Recessive;
NM_006329.4(FBLN5):c.-77C>G	10516	FBLN5	Uncertain significance	751344551	RCV001115304\|RCV001115305;	N	MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209	14	92413650	92413650	14:g.92413650G>C	-
NM_006329.4(FBLN5):c.-139C>T	10516	FBLN5	Uncertain significance	554315938	RCV000318082\|RCV000368194;	N	Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209\|MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598	14	92413712	92413712	NC_000014.8:g.92413712G>A	ClinGen:CA10646552	CN239277 Cutis Laxa, Dominant/Recessive;
NM_006329.4(FBLN5):c.-152C>T	10516	FBLN5	Benign	139387007	RCV000273619\|RCV000333368;	N	MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209	14	92413725	92413725	NC_000014.8:g.92413725G>A	ClinGen:CA10646556	CN239277 Cutis Laxa, Dominant/Recessive;
NM_006329.4(FBLN5):c.-382C>G	10516	FBLN5	Uncertain significance	886050890	RCV000288201\|RCV000387952;	N	MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209	14	92413955	92413955	NC_000014.8:g.92413955G>C	ClinGen:CA10645298	CN239277 Cutis Laxa, Dominant/Recessive;
NM_006329.4(FBLN5):c.-389C>A	10516	FBLN5	Uncertain significance	886050891	RCV000326798\|RCV000383684;	N	MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209	14	92413962	92413962	NC_000014.8:g.92413962G>T	ClinGen:CA10646557	CN239277 Cutis Laxa, Dominant/Recessive;
NM_006329.4(FBLN5):c.-411A>G	10516	FBLN5	Benign/Likely benign	143296045	RCV000291673\|RCV000339513;	N	Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209\|MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598	14	92413984	92413984	NC_000014.8:g.92413984T>C	ClinGen:CA10641289	CN239277 Cutis Laxa, Dominant/Recessive;
NM_006329.4(FBLN5):c.-413C>T	10516	FBLN5	Uncertain significance	886050892	RCV000285594\|RCV000377849;	N	Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209\|MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598	14	92413986	92413986	14:g.92413986G>A	ClinGen:CA10645303	CN239277 Cutis Laxa, Dominant/Recessive;
NM_006329.4(FBLN5):c.-414C>T	10516	FBLN5	Benign	7149187	RCV000342843\|RCV000404509\|RCV000839553;	N	MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209\|MedGen:C3661900	14	92413987	92413987	14:g.92413987G>A	ClinGen:CA10641291	CN239277 Cutis Laxa, Dominant/Recessive;
NM_006329.4(FBLN5):c.-428G>C	10516	FBLN5	Uncertain significance	886050893	RCV000298567\|RCV000336918;	N	Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209\|MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598	14	92414001	92414001	14:g.92414001C>G	ClinGen:CA10646558	CN239277 Cutis Laxa, Dominant/Recessive;
NM_006329.4(FBLN5):c.-458G>A	10516	FBLN5	Benign	369441736	RCV000275772\|RCV000368378;	N	MONDO:MONDO:0012145,MedGen:C1837187,OMIM:608895, Orphanet:280598\|Human Phenotype Ontology:HP:0000973,MONDO:MONDO:0016175,MedGen:C0010495, Orphanet:209	14	92414031	92414031	14:g.92414031C>T	ClinGen:CA10635525	CN239277 Cutis Laxa, Dominant/Recessive;

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