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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: Muscular Dystrophies (D009136)
..Starting node ..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 (OMIM:606612)
Child Nodes:
Sister Nodes:
..Alpha-B Crystallinopathy with Cataract (C563849)
..Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis (C565960)
..Bassoe syndrome (C537661)
..Bethlem myopathy (C535436)
..Distal Myopathies (D049310) 11
..Filaminopathy, autosomal dominant (C537932)
..Glycogen Storage Disease Type VII (D006014)
..Muscular Dystrophies, Limb-Girdle (D049288) 33
..Muscular dystrophy congenital, merosin negative (C537384)
..Muscular Dystrophy, Adult-Onset, with Leukoencephalopathy (C565361)
..Muscular Dystrophy, Barnes Type (C563558)
..Muscular Dystrophy, Cardiac Type (C563247)
..Muscular Dystrophy, Congenital, 1B (C565748)
..Muscular Dystrophy, Congenital, 1C (C564691)
..Muscular Dystrophy, Congenital, associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation (C565506)
..Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency (C567709)
..Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency (C564317)
..Muscular dystrophy, congenital, infantile with cataract and hypogonadism (C537385)
..Muscular Dystrophy, Congenital, Lmna-Related (C567708)
..Muscular Dystrophy, Congenital, Megaconial Type (C566527) L: 00415;
..Muscular Dystrophy, Congenital, Merosin-Positive (C563716)
..Muscular Dystrophy, Congenital, plus Mental Retardation (C565505)
..Muscular Dystrophy, Congenital, Producing Arthrogryposis (C564985)
..Muscular Dystrophy, Congenital, Type 1D (C563844)
..Muscular Dystrophy, Congenital, With Cerebellar Atrophy (C566392)
..Muscular Dystrophy, Congenital, with Rapid Progression (C564983)
..Muscular Dystrophy, Congenital, with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers (C563378)
..Muscular Dystrophy, Duchenne (D020388) 1
..Muscular Dystrophy, Emery-Dreifuss (D020389) 10
..Muscular Dystrophy, Facioscapulohumeral (D020391) 4
..Muscular Dystrophy, Mabry Type (C564096)
..Muscular Dystrophy, Oculopharyngeal (D039141) 1
..Muscular Dystrophy, Progressive Pectorodorsal (C564095)
..Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries (C563554)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 (OMIM:613155)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 (OMIM:613156)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 (OMIM:613151)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6 (OMIM:608840)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5 (OMIM:606612)
..MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4 (OMIM:613152)
..Myopathy with Abnormal Lipid Metabolism (C562935)
..Myopathy, Myofibrillar, Desmin-Related (C563319)
..Myopathy, Myofibrillar, Zasp-Related (C563718)
..MYOPATHY, SCAPULOHUMEROPERONEAL (OMIM:616852)
..Myotonic Dystrophy (D009223) 1
..Oculopharyngodistal Myopathy (C563508)
..Rigid spine syndrome (C535683)
..Scleroatonic muscular dystrophy (C537521)
..Vacuolar Neuromyopathy (C566617)
..Walker-Warburg Syndrome (D058494) 7
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

8333

Name:

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5

Definition:

Alternative IDs:

DO:DOID:0110635

ParentIDs:

MESH:D009136

TreeNumbers:

C05.651.534.500/606612 |C10.668.491.175.500/606612 |C16.320.577/606612

Synonyms:

MDC1C |MDDGB5 |MUSCULAR DYSTROPHY, CONGENITAL, 1C |MUSCULAR DYSTROPHY, CONGENITAL, FKRP-RELATED

Slim Mappings:

Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: 606612
MeSH: 606612
OMIM: 606612;
MSeqDR :
Genes: FKRP;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003577	Congenital onset
3	HP:0002500	Abnormality of the cerebral white matter
4	HP:0001771	Achilles tendon contracture
5	HP:0008981	Calf muscle hypertrophy
6	HP:0001272	Cerebellar atrophy
7	HP:0002350	Cerebellar cyst
8	HP:0003741	Congenital muscular dystrophy
9	HP:0002194	Delayed gross motor development NAMDC: Gross motor delay
10	HP:0003551	Difficulty climbing stairs
11	HP:0002355	Difficulty walking
12	HP:0003236	Elevated serum creatine phosphokinase
13	HP:0003458	EMG: myopathic abnormalities
14	HP:0010628	Facial palsy
15	HP:0008872	Feeding difficulties in infancy
16	HP:0002359	Frequent falls
17	HP:0003324	Generalized muscle weakness
18	HP:0003307	Hyperlordosis
19	HP:0001249	Intellectual disability
20	HP:0002808	Kyphosis
21	HP:0000158	Macroglossia
22	HP:0000252	Microcephaly
23	HP:0003394	Muscle cramps
24	HP:0003326	Myalgia
25	HP:0001319	Neonatal hypotonia NAMDC: Floppy baby
26	HP:0001302	Pachygyria	HP:0040283
27	HP:0007126	Proximal amyotrophy
28	HP:0003701	Proximal muscle weakness NAMDC: Muscle weakness: proximal
29	HP:0002111	Restrictive deficit on pulmonary function testing
30	HP:0002650	Scoliosis
31	HP:0003724	Shoulder girdle muscle atrophy
32	HP:0003547	Shoulder girdle muscle weakness
33	HP:0003733	Thigh hypertrophy
34	HP:0040083	Toe walking
35	HP:0003828	Variable expressivity
36	HP:0002119	Ventriculomegaly	HP:0040283
37	HP:0002948	Vertebral fusion

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_024301.5(FKRP):c.-34C>T	79147	FKRP	Benign	rs3201779	RCV000082170\|RCV001527274\|RCV001527240\|RCV001527241;	N	MedGen:CN169374\|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515\|MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899\|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428	19	47258674	47258674	19:g.47258674C>T	ClinGen:CA285757	CN169374 not specified;
NM_024301.5(FKRP):c.9C>T (p.Leu3=)	79147	FKRP	Likely benign	rs756295058	RCV000886744\|RCV001563825\|RCV001563826\|RCV001563827\|RCV002382036;	N	MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899\|MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899\|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428\|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155,Orpha	19	47258716	47258716	19:g.47258716C>T	-
NM_024301.5(FKRP):c.11C>G (p.Thr4Ser)	79147	FKRP	Uncertain significance	rs771333733	RCV000382342\|RCV000466132\|RCV000726517\|RCV001273315\|RCV002348025\|RCV002504022;	N	MedGen:CN169374\|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899\|MedGen:CN517202\|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515\|MedGen:CN230736\|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011	19	47258718	47258718	19:g.47258718C>G	ClinGen:CA9532092	CN169374 not specified;
NM_024301.5(FKRP):c.119G>A (p.Arg40His)	79147	FKRP	Uncertain significance	-1	RCV001563922\|RCV001563920\|RCV001563921;	N	MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515\|MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899\|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428	19	47258826	47258826	47258826	-
NM_024301.5(FKRP):c.122G>T (p.Arg41Leu)	79147	FKRP	Uncertain significance	rs201497063	RCV000552107\|RCV001829569\|RCV002506304;	N	MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899\|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515\|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670, Orphanet:588,Orp	19	47258829	47258829	NC_000019.9:g.47258829G>T	ClinGen:CA9532114	C0265221 Walker-Warburg congenital muscular dystrophy;
NM_024301.5(FKRP):c.128C>G (p.Ser43Cys)	79147	FKRP	Uncertain significance	rs1555738085	RCV000577932\|RCV000578007\|RCV000578009\|RCV000578092;	N	MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899\|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428\|EFO:EFO_0000407,Human Phenotype Ontology:HP:0001644,Human Phenotype Ontology:HP:0001725,Human Phenotype Ontology:HP:	19	47258835	47258835	19:g.47258835C>G	ClinGen:CA406494717	C1847759 606612 Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5;
NM_024301.5(FKRP):c.192C>T (p.Pro64=)	79147	FKRP	Benign	rs111754012	RCV000117037\|RCV000227021\|RCV000576519\|RCV001272536\|RCV001811960\|RCV002408618;	N	MedGen:CN169374\|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899\|MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899; MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846672,O	19	47258899	47258899	19:g.47258899C>T	ClinGen:CA288847	C1847759 606612 Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5;
NM_024301.5(FKRP):c.282C>T (p.Pro94=)	79147	FKRP	Conflicting interpretations of pathogenicity	-1	RCV001563918\|RCV001563828\|RCV001563919\|RCV002072148;	N	MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428\|MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899\|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515\|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670,Orp	19	47258989	47258989	47258989	-
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly)	79147	FKRP	Conflicting interpretations of pathogenicity	rs143793528	RCV000082175\|RCV000227473\|RCV000577971\|RCV000711662\|RCV001563824\|RCV001563823\|RCV002453409;	N	MedGen:CN169374\|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899\|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515\|MedGen:CN517202\|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428\|MONDO:MONDO:0013157,MedGen:C3150	19	47259048	47259048	19:g.47259048C>G	ClinGen:CA149248,UniProtKB:Q9H9S5#VAR_018280	C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.434T>G (p.Val145Gly)	79147	FKRP	Uncertain significance	-1	RCV001870152\|RCV002478125\|RCV002547933;	N	MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899\|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515; MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588,Orp	19	47259141	47259141	47259141	-
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg)	79147	FKRP	Conflicting interpretations of pathogenicity	rs199714523	RCV000464325\|RCV000408156\|RCV000710136\|RCV000765452\|RCV001275311\|RCV002338856;	N	MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899\|MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515; MONDO:MONDO:0009364,MedGen:C4284	19	47259163	47259163	19:g.47259163C>G	ClinGen:CA9532153	CN169374 not specified;
NM_024301.5(FKRP):c.503G>A (p.Cys168Tyr)	79147	FKRP	Likely pathogenic	-1	RCV001815627;	N	MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515; MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899	19	47259210	47259210	47259210	-
NM_024301.5(FKRP):c.541C>A (p.Arg181Ser)	79147	FKRP	Uncertain significance	rs777245868	RCV000634057\|RCV001275313\|RCV001591411\|RCV002343234\|RCV002492962;	N	MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899\|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515\|MedGen:CN517202\|MedGen:CN230736\|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846	19	47259248	47259248	NC_000019.9:g.47259248C>A	ClinGen:CA9532162	C0265221 Walker-Warburg congenital muscular dystrophy;
NM_024301.5(FKRP):c.541C>T (p.Arg181Cys)	79147	FKRP	Uncertain significance	-1	RCV001903206\|RCV002478295;	N	MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899\|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515; MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670, Orphanet:588,Orp	19	47259248	47259248	47259248	-
NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys)	79147	FKRP	Pathogenic	rs543163491	RCV000336106\|RCV000810074\|RCV000763055\|RCV000984175;	N	MedGen:CN517202\|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899\|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515; MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153,	19	47259252	47259252	NC_000019.9:g.47259252A>G	ClinGen:CA9532164,UniProtKB:Q9H9S5#VAR_065058	C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.558C>A (p.Pro186=)	79147	FKRP	Likely benign	-1	RCV002102478\|RCV002498301;	N	MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899\|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515; MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588,Orp	19	47259265	47259265	47259265	-
NM_024301.5(FKRP):c.562G>A (p.Ala188Thr)	79147	FKRP	Uncertain significance	rs746905689	RCV000634060\|RCV000711664\|RCV001272543\|RCV002506439;	N	MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899\|MedGen:CN517202\|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515\|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155,	19	47259269	47259269	19:g.47259269G>A	ClinGen:CA9532169	CN169374 not specified;
NM_024301.5(FKRP):c.585C>T (p.Asp195=)	79147	FKRP	Benign	rs75079578	RCV000082179\|RCV000576800\|RCV001081711\|RCV001727566\|RCV002354283\|RCV002505004;	N	MedGen:CN169374\|MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515; MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428\|MONDO:MONDO:0000171,MedGen:C0265221,O	19	47259292	47259292	19:g.47259292C>T	ClinGen:CA149250	C1847759 606612 Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5;
NM_024301.5(FKRP):c.613C>G (p.Arg205Gly)	79147	FKRP	Uncertain significance	rs753297636	RCV000283493\|RCV000820298\|RCV001275314\|RCV002356388\|RCV002504004;	N	MedGen:CN517202\|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899\|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515\|MedGen:CN230736\|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846	19	47259320	47259320	NC_000019.9:g.47259320C>G	ClinGen:CA9532178	CN169374 not specified;
NM_024301.5(FKRP):c.616G>A (p.Asp206Asn)	79147	FKRP	Uncertain significance	rs1037585549	RCV001321618\|RCV002476507;	N	MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899\|MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899; MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155,Orpha	19	47259323	47259323	47259323	-
NM_024301.5(FKRP):c.649C>A (p.Pro217Thr)	79147	FKRP	Uncertain significance	-1	RCV001733724\|RCV002032740;	N	MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428\|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899	19	47259356	47259356	47259356	-
NM_024301.5(FKRP):c.663C>A (p.Ser221Arg)	79147	FKRP	Pathogenic	rs28937902	RCV000004446;	N	MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428	19	47259370	47259370	19:g.47259370C>A	ClinGen:CA116708,UniProtKB:Q9H9S5#VAR_018284,OMIM:606596.0008	CN068807 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B5;
NM_024301.5(FKRP):c.706C>G (p.Leu236Val)	79147	FKRP	Uncertain significance	rs754347622	RCV000692322\|RCV001830508\|RCV002485652;	N	MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899\|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515\|MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899; MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612,Orpha	19	47259413	47259413	NC_000019.9:g.47259413C>G	-	C0265221 Walker-Warburg congenital muscular dystrophy;
NM_024301.5(FKRP):c.763T>A (p.Trp255Arg)	79147	FKRP	Uncertain significance	rs2054916842	RCV001065504\|RCV002479385\|RCV002393317;	N	MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899\|MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670, Orphanet:588, Orphanet:899; MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155,Orpha	19	47259470	47259470	19:g.47259470T>A	-
NM_024301.5(FKRP):c.778G>T (p.Glu260Ter)	79147	FKRP	Pathogenic/Likely pathogenic	rs1555738753	RCV000669672\|RCV001855524\|RCV002499167;	N	MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515\|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899\|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588,Orp	19	47259485	47259485	19:g.47259485G>T	-	C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.822C>G (p.Ile274Met)	79147	FKRP	Conflicting interpretations of pathogenicity	rs77138370	RCV000117039\|RCV000711666\|RCV001086481\|RCV001836732\|RCV002426662;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899\|MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899; MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,M	19	47259529	47259529	19:g.47259529C>G	ClinGen:CA152821	CN169374 not specified;
NM_024301.5(FKRP):c.835T>C (p.Trp279Arg)	79147	FKRP	Uncertain significance	-1	RCV002029966\|RCV002478088;	N	MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899\|MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670, Orphanet:588, Orphanet:899; MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155,Orpha	19	47259542	47259542	47259542	-
NM_024301.5(FKRP):c.851T>C (p.Leu284Pro)	79147	FKRP	Uncertain significance	rs1435780847	RCV000702546\|RCV001825385\|RCV002507227;	N	MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899\|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515\|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670, Orphanet:588,Orp	19	47259558	47259558	NC_000019.9:g.47259558T>C	-	C0265221 Walker-Warburg congenital muscular dystrophy;
NM_024301.5(FKRP):c.854A>C (p.Glu285Ala)	79147	FKRP	Uncertain significance	-1	RCV001563924\|RCV001563923\|RCV001563925\|RCV001882663;	N	MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428\|MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899\|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515\|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670,Orp	19	47259561	47259561	47259561	-
NM_024301.5(FKRP):c.881C>A (p.Thr294Lys)	79147	FKRP	Uncertain significance	-1	RCV001771074\|RCV001861108\|RCV002503206;	N	MedGen:CN517202\|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899\|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670, Orphanet:588, Orphanet:899; MONDO:MONDO:0013157,MedGen:C3150413,O	19	47259588	47259588	47259588	-
NM_024301.5(FKRP):c.893G>C (p.Gly298Ala)	79147	FKRP	Uncertain significance	rs921829148	RCV001325181\|RCV002377416\|RCV002499638\|RCV001830367;	N	MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899\|MedGen:CN230736\|MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670, Orphanet:588, Orphanet:899; MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846672,O	19	47259600	47259600	47259600	-
NM_024301.5(FKRP):c.904G>A (p.Gly302Ser)	79147	FKRP	Conflicting interpretations of pathogenicity	rs762283381	RCV000356554\|RCV000469653\|RCV000765454\|RCV001273518\|RCV002374484;	N	MedGen:CN517202\|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899\|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515; MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670,	19	47259611	47259611	19:g.47259611G>A	ClinGen:CA9532208	CN169374 not specified;
NM_024301.5(FKRP):c.928G>C (p.Glu310Gln)	79147	FKRP	Uncertain significance	-1	RCV001896841\|RCV002490201;	N	MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899\|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515; MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588,Orp	19	47259635	47259635	47259635	-
NM_024301.5(FKRP):c.946C>A (p.Pro316Thr)	79147	FKRP	Conflicting interpretations of pathogenicity	rs28937901	RCV000004445\|RCV000675047\|RCV003144104;	N	MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428\|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515\|MedGen:CN517202	19	47259653	47259653	19:g.47259653C>A	ClinGen:CA116706,OMIM:606596.0007	CN068807 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B5;
NM_024301.5(FKRP):c.947C>G (p.Pro316Arg)	79147	FKRP	Pathogenic/Likely pathogenic	rs752582904	RCV001065681\|RCV002500502\|RCV000263428;	N	MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899\|MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670, Orphanet:588, Orphanet:899; MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155,Orpha	19	47259654	47259654	19:g.47259654C>G	ClinGen:CA245436,UniProtKB:Q9H9S5#VAR_018289	C1846672 607155 Limb-girdle muscular dystrophy-dystroglycanopathy, type C5;
NM_024301.5(FKRP):c.959G>A (p.Arg320His)	79147	FKRP	Uncertain significance	-1	RCV002005736\|RCV002486520;	N	MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899\|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515; MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588,Orp	19	47259666	47259666	47259666	-
NM_024301.5(FKRP):c.962C>A (p.Ala321Glu)	79147	FKRP	Conflicting interpretations of pathogenicity	rs745882222	RCV001196908\|RCV002561048;	N	MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428\|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899	19	47259669	47259669	19:g.47259669C>A	-
NM_024301.5(FKRP):c.968G>A (p.Arg323His)	79147	FKRP	Conflicting interpretations of pathogenicity	rs1349031936	RCV000634072\|RCV000662004\|RCV000662005\|RCV001171504;	N	MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899\|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428\|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515\|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; M	19	47259675	47259675	19:g.47259675G>A	ClinGen:CA406496378	C1847759 606612 Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5;
NM_024301.5(FKRP):c.1003G>A (p.Ala335Thr)	79147	FKRP	Uncertain significance	rs776947530	RCV000306773\|RCV000797226\|RCV001833326\|RCV002401982\|RCV002480010;	N	MedGen:CN517202\|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899\|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515\|MedGen:CN230736\|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846	19	47259710	47259710	NC_000019.9:g.47259710G>A	ClinGen:CA9532222	CN169374 not specified;
NM_024301.5(FKRP):c.1019A>T (p.Tyr340Phe)	79147	FKRP	Uncertain significance	rs1322997651	RCV000538732\|RCV000765455\|RCV001273520;	N	MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899\|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670, Orphanet:588, Orphanet:899; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155,Orpha	19	47259726	47259726	19:g.47259726A>T	ClinGen:CA406496482	C0265221 Walker-Warburg congenital muscular dystrophy;
NM_024301.5(FKRP):c.1051G>C (p.Ala351Pro)	79147	FKRP	Uncertain significance	-1	RCV001769990;	N	MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428	19	47259758	47259758	47259758	-
NM_024301.5(FKRP):c.1061G>A (p.Gly354Glu)	79147	FKRP	Uncertain significance	-1	RCV001898738\|RCV002407033\|RCV002490215;	N	MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899\|MedGen:CN230736\|MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588, Orphanet:899; MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846672,O	19	47259768	47259768	47259768	-
NM_024301.5(FKRP):c.1123T>A (p.Cys375Ser)	79147	FKRP	Uncertain significance	-1	RCV002024306\|RCV002479803;	N	MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899\|MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670, Orphanet:588, Orphanet:899; MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155,Orpha	19	47259830	47259830	47259830	-
NM_024301.5(FKRP):c.1192G>A (p.Val398Ile)	79147	FKRP	Uncertain significance	rs1471167981	RCV001348079\|RCV001831138\|RCV002341726\|RCV002486424;	N	MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899\|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515\|MedGen:CN230736\|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670,	19	47259899	47259899	47259899	-
NM_024301.5(FKRP):c.1213G>T (p.Val405Leu)	79147	FKRP	Pathogenic	rs28937904	RCV000004448;	N	MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428	19	47259920	47259920	19:g.47259920G>T	ClinGen:CA116712,UniProtKB:Q9H9S5#VAR_022854,OMIM:606596.0010	CN068807 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B5;
NM_024301.5(FKRP):c.1270A>C (p.Asn424His)	79147	FKRP	Uncertain significance	rs769568971	RCV000634052\|RCV000726824\|RCV001197776\|RCV001275321\|RCV002376962\|RCV002490905;	N	MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899\|MedGen:CN517202\|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428\|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515\|MedGen:CN230736\|MONDO:MONDO:0011787,MedGen:C1846	19	47259977	47259977	19:g.47259977A>C	ClinGen:CA9532287	CN169374 not specified;
NM_024301.5(FKRP):c.1296G>A (p.Trp432Ter)	79147	FKRP	Likely pathogenic	rs1599939853	RCV000810942\|RCV002507413;	N	MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899\|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515; MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153, Orphanet:588,Orp	19	47260003	47260003	19:g.47260003G>A	-
NM_024301.5(FKRP):c.1352C>T (p.Pro451Leu)	79147	FKRP	Uncertain significance	rs886044542	RCV000343070\|RCV002379155\|RCV002487285\|RCV002518144;	N	MedGen:CN517202\|MedGen:CN230736\|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515; MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670, Orphanet:588, Orphanet:899; MONDO:MONDO:0013157,M	19	47260059	47260059	19:g.47260059C>T	ClinGen:CA10606888	CN169374 not specified;
NM_024301.5(FKRP):c.1363G>T (p.Ala455Ser)	79147	FKRP	Uncertain significance	rs747785577	RCV000700840\|RCV001825376\|RCV002485723\|RCV002386242;	N	MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899\|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515\|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515; M	19	47260070	47260070	19:g.47260070G>T	-	C0265221 Walker-Warburg congenital muscular dystrophy;
NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp)	79147	FKRP	Pathogenic	rs28937903	RCV000004447\|RCV000201040\|RCV000532707\|RCV000597675;	N	MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428\|MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515\|MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899\|MedGen:CN517202	19	47260071	47260071	19:g.47260071C>A	ClinGen:CA116710,UniProtKB:Q9H9S5#VAR_022855,OMIM:606596.0009	C3150413 613153 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5;
NM_024301.5(FKRP):c.1366G>A (p.Gly456Ser)	79147	FKRP	Uncertain significance	rs2054938604	RCV001197701;	N	MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428	19	47260073	47260073	19:g.47260073G>A	-
NM_024301.5(FKRP):c.1427G>A (p.Gly476Glu)	79147	FKRP	Uncertain significance	rs375326964	RCV001205826\|RCV001574262\|RCV002497700\|RCV001833808\|RCV002393463;	N	MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899\|MedGen:CN517202\|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515; MONDO:MONDO:0013157,MedGen:C3150413,OMIM:613153,	19	47260134	47260134	19:g.47260134G>A	-
NM_024301.5(FKRP):c.1482C>A (p.Ser494Arg)	79147	FKRP	Uncertain significance	rs373244438	RCV001313163\|RCV002493635\|RCV002395667\|RCV003145551;	N	MONDO:MONDO:0000171,MedGen:C0265221,OMIM:PS236670, Orphanet:899\|MONDO:MONDO:0011688,MedGen:C1847759,OMIM:606612, Orphanet:52428; MONDO:MONDO:0011787,MedGen:C1846672,OMIM:607155, Orphanet:34515; MONDO:MONDO:0009364,MedGen:C4284790,OMIM:236670, Orphanet:588,Orp	19	47260189	47260189	47260189	-

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