MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Hello! Guest! Please Login or Register! Clinician Mode

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: Dwarfism (D004392)
Parent Node: Intellectual Disability (D008607)
Parent Node: Osteochondrodysplasias (D010009)
..Starting node ..Dyggve-Melchior-Clausen syndrome (C535726)
Child Nodes:
Sister Nodes:
..Achondrogenesis (C579878)
..Achondroplasia (D000130) 21
..Acquired Hyperostosis Syndrome (D020083)
..Acrodysostosis (C538179)
..Acrodysplasia scoliosis (C538180)
..Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia (C538181)
..Acromesomelic dysplasia (C535658) 1
..Acromesomelic dysplasia Campailla-Martinelli type (C535659)
..Acropectorovertebral Dysplasia, F-Form (C566319)
..Akaba Hayasaka syndrome (C535609)
..Anauxetic dysplasia (C538256)
..Atelosteogenesis type 2 (C535395)
..Atelosteogenesis Type 3 (C579928)
..Atelosteogenesis, type 1 (C535396)
..ATELOSTEOGENESIS, TYPE III (OMIM:108721)
..Auriculoosteodysplasia (C538271)
..Boomerang dysplasia (C536573)
..Brachyolmia (C537098)
..Brachyolmia Type 2 (C563218)
..Brachyolmia Type 3 (C562963)
..Brachyolmia, recessive Hobaek type (C537099)
..Camurati-Engelmann Syndrome (D003966) 4
..Cantu syndrome (C535572)
..Cartilage hair hypoplasia like syndrome (C535915)
..Cartilage-hair hypoplasia (C535916)
..CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
..Chondrodysplasia Calcificans Metaphysealis (C565855)
..Chondrodysplasia Punctata (D002806) 13
..CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE (OMIM:614078)
..CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA (OMIM:300863)
..Chondrodysplasia, blomstrand type (C537914)
..Chondrodysplasia, Grebe type (C537915)
..Chondrodysplasia, Lethal, with Long Bone Angulation and Mixed Bone Density (C563330)
..Chondrodysplasia, Megarbane-Dagher-Melki Type (C567644)
..Cleidocranial Dysplasia (D002973) 5
..Cleidorhizomelic syndrome (C536428)
..Cloverleaf skull micromelia thoracic dysplasia (C536429)
..CODAS syndrome (C536434)
..Collagenopathy, type 2 alpha 1 (C535964)
..Coloboma of Alar-nasal cartilages with telecanthus (C535967)
..Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia (C564307)
..Craniodiaphyseal Dysplasia (C562940)
..Craniodiaphyseal Dysplasia, Autosomal Dominant (C567275)
..Czech dysplasia, metatarsal type (C535766)
..Dyggve-Melchior-Clausen syndrome (C535726)
..Dyschondrosteosis and Nephritis (C565080)
..Eiken Skeletal Dysplasia (C564010)
..Ellis-Van Creveld Syndrome (D004613) 6
..Enchondromatosis (D004687)
..EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE (OMIM:615923)
..Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness (C565585)
..Epiphyseal Dysplasia, Baumann Type (C563664)
..Epiphyseal dysplasia, multiple, 1 (C535501)
..Epiphyseal dysplasia, multiple, 2 (C535502)
..Epiphyseal dysplasia, multiple, 3 (C535503)
..Epiphyseal dysplasia, multiple, 4 (C535504)
..Epiphyseal dysplasia, multiple, 5 (C535505)
..EPIPHYSEAL DYSPLASIA, MULTIPLE, 6 (OMIM:614135)
..Epiphyseal Dysplasia, Multiple, with Miniepiphyses (C563735)
..Epiphyseal Dysplasia, Multiple, with Myopathy (C563420)
..Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness (C565046)
..Epiphyseal Dysplasia, Multiple, with Severe Proximal Femoral Dysplasia (C563736)
..Fairbank disease (C536393)
..Faye-Petersen Ward Carey syndrome (C537076)
..Fibrous Dysplasia of Bone (D005357) 9
..Fraser Jequier Chen syndrome (C535481)
..Frontometaphyseal dysplasia (C538064)
..Frontootopalatodigital Osteodysplasia (C567578)
..Ghosal Hematodiaphyseal Dysplasia (C565551)
..HEM dysplasia (C535858) 1
..Heterotopia, Periventricular Nodular, with Frontometaphyseal Dysplasia (C564725)
..Hip Dysplasia, Beukes Type (C564185)
..Hyperostosis Frontalis Interna (D006957) 1
..Hyperostosis, Cortical, Congenital (D006958) 6
..Hypochondrogenesis (C563007)
..Hypoparathyroidism-retardation-dysmorphism syndrome (C537157)
..IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
..Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies (C564543)
..Jansen type metaphyseal chondrodysplasia (C537564)
..Jequier Kozlowski skeletal dysplasia (C537569)
..Kashin-Beck Disease (D057767)
..Kniest dysplasia (C537207)
..Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis (C565452)
..Kozlowski Tsuruta Taki syndrome (C537510)
..Langer mesomelic dysplasia (C537267)
..Langer-Giedion Syndrome (D015826) 2
..Laplane Fontaine Lagardere syndrome (C537869)
..Larsen Syndrome (C580241)
..Larsen syndrome, dominant type (C537873)
..Larsen-Like Syndrome (C563914)
..Leri-Weil syndrome (C537119)
..Leukoencephalopathy With Metaphyseal Chondrodysplasia (C567065)
..Lowry Wood syndrome (C537038)
..Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies (C564621)
..Madelung Deformity (C562398)
..Marshall syndrome (C536025)
..Megaepiphyseal dwarfism (C536140) 1
..Mental Retardation, Skeletal Dysplasia, and Abducens Palsy (C564101)
..Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type (C563589)
..Mesomelic dwarfism Reinhardt Pfeiffer type (C537349)
..Mesomelic Dysplasia, Savarirayan Type (C565349)
..Metaphyseal anadysplasia (C537351)
..Metaphyseal Anadysplasia 1 (C567545)
..Metaphyseal Anadysplasia 2 (C567771)
..Metaphyseal chondrodysplasia Schmid type (C537352)
..Metaphyseal chondrodysplasia Spahr type (C537353)
..Metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and normal hands (C537354)
..Metaphyseal Chondrodysplasia with Retinitis Pigmentosa (C565398)
..Metaphyseal Chondrodysplasia, Kaitila Type (C565400)
..Metaphyseal Chondrodysplasia, Pena Type (C565399)
..Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly (C563586)
..Metaphyseal Dysplasia without Hypotrichosis (C563574)
..Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy (C565395)
..Metaphyseal Dysplasia, Braun-Tinschert Type (C565271)
..Metaphyseal undermodeling, spondylar dysplasia, and overgrowth (C537355)
..Metatropic dwarfism (C537356)
..Metatropic Dwarfism, Type II (C581628)
..Microcephalic osteodysplastic primordial dwarfism, type 1 (C537577)
..Microcephalic Osteodysplastic Primordial Dwarfism, Type II (C565898)
..Microcephaly-Micromelia Syndrome (C565382)
..Micromelic dwarfism Fryns type (C537556)
..Micromelic dysplasia, congenital, with dislocation of radius (C537557)
..Multiple Congenital Anomalies Syndrome with Cloverleaf Skull (C564611)
..Multiple Epiphyseal Dysplasia with Robin Phenotype (C563291)
..Nievergelt syndrome (C536120)
..Nivelon Nivelon Mabille syndrome (C536123)
..Omodysplasia 2 (C567664)
..Omodysplasia type 1 (C537746)
..Opsismodysplasia (C537122)
..Osebold Skeletal Dysplasia Osteolysis Syndrome (C566380)
..Osteoarthritis with Mild Chondrodysplasia (C565740)
..OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE (OMIM:616897)
..Osteochondrodysplasia, Rhizomelic, with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension (C563478)
..Osteochondroma (D015831) 17
..Osteodysplasia, Familial, Anderson Type (C564923)
..Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski (C564922)
..Osteogenesis Imperfecta (D010013) 27
..Osteoglophonic dwarfism (C536050)
..Osteosclerosis (D010026) 36
..Oto-Palato-digital syndrome type 1 (C536065)
..Oto-palato-digital syndrome, type 2 (C538089)
..Otopalatodigital Spectrum Disorder (C567577)
..OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:215150)
..Pelvis-Shoulder Dysplasia (C566811)
..Pierre Robin syndrome with fetal chondrodysplasia (C535776)
..Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (C536329)
..Polydysspondyly (C565150)
..Pubic Bone Dysplasia (C566735)
..Pycnodysostosis (D058631)
..Pyle disease (C536252)
..Roifman syndrome (C535866)
..Schaefer Stein Oshman syndrome (C536627)
..Schimke immunoosseous dysplasia (C536629)
..Schneckenbecken dysplasia (C536637)
..Short Rib-Polydactyly Syndrome (D012779) 3
..Short stature syndrome, Brussels type (C537121)
..Situs inversus totalis with cystic dysplasia of kidneys and pancreas (C536666)
..Sketetal dysplasia coarse facies mental retardation (C536671)
..Slipped Capital Femoral Epiphyses (D060048)
..Smith-McCort Dysplasia (C564589)
..Spinal Dysplasia, Anhalt Type (C563348)
..Spondylo-Megaepiphyseal-Metaphyseal Dysplasia (C567639)
..Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like (C567340)
..Spondylodysplasia And Premature Pubarche (C567552)
..Spondyloenchondrodysplasia (C535782)
..Spondyloepimetaphyseal Dysplasia With Abnormal Dentition (C566644)
..Spondyloepimetaphyseal dysplasia with hypotrichosis (C535783)
..Spondyloepimetaphyseal Dysplasia With Joint Laxity (C562968)
..Spondyloepimetaphyseal dysplasia with multiple dislocations (C535784)
..Spondyloepimetaphyseal dysplasia, Genevieve type (C535785)
..Spondyloepimetaphyseal Dysplasia, Irapa Type (C562958)
..Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related (C563869)
..Spondyloepimetaphyseal Dysplasia, Missouri Type (C566574)
..Spondyloepimetaphyseal Dysplasia, Pakistani Type (C567551)
..Spondyloepimetaphyseal Dysplasia, Shohat Type (C566523)
..Spondyloepimetaphyseal dysplasia, sponastrime type (C535786)
..Spondyloepimetaphyseal Dysplasia, X-Linked (C564714)
..Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies (C564003)
..Spondyloepiphyseal Dysplasia Tarda with Mental Retardation (C564796)
..Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant (C566658)
..Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive (C564797)
..Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type (C563772)
..Spondyloepiphyseal dysplasia tarda, Toledo type (C535787)
..Spondyloepiphyseal Dysplasia with Atlantoaxial Instability (C563472)
..Spondyloepiphyseal Dysplasia With Coronal Craniosynostosis, Cataracts, Cleft Palate, And Mental Retardation (C566515)
..Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy (C566660)
..Spondyloepiphyseal dysplasia, congenita (C535788)
..Spondyloepiphyseal Dysplasia, Kimberley Type (C564252)
..SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE (OMIM:184095)
..Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness (C566659)
..Spondyloepiphyseal dysplasia, Omani type (C535789) 1
..Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech (C567128)
..Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness (C566507)
..Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type (C564794)
..Spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism (C535791)
..Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy (C563825)
..Spondylometaphyseal dysplasia with dentinogenesis imperfecta (C535792)
..Spondylometaphyseal dysplasia, 'corner fracture' type (C535793)
..Spondylometaphyseal dysplasia, Algerian type (C535794)
..Spondylometaphyseal dysplasia, axial (C535795)
..Spondylometaphyseal dysplasia, east-African type (C535796)
..Spondylometaphyseal dysplasia, Kozlowski type (C535797)
..Spondylometaphyseal dysplasia, Sedaghatian type (C535798)
..Spondylometaphyseal Dysplasia, Type A4 (C563803)
..Spondylometaphyseal Dysplasia, X-Linked (C563124)
..Spondyloocular Syndrome, Autosomal Recessive (C565285)
..SPONDYLOPERIPHERAL DYSPLASIA (OMIM:271700)
..Spondyloperipheral dysplasia short ulna (C535799)
..Spondylospinal Thoracic Dysostosis (C566622)
..Strudwick syndrome (C537501)
..Stuve-Wiedemann syndrome (C537502)
..Teebi Naguib Al Awadi syndrome (C536949)
..Ter Haar syndrome (C537274)
..TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
..Terminal Osseous Dysplasia and Pigmentary Defects (C564554)
..Thoracolaryngopelvic dysplasia (C536517)
..Tracheobronchopathia osteoplastica (C536977)
..Trichoscyphodysplasia (C536557)
..Ulna metaphyseal dysplasia syndrome (C536935)
..Upington disease (C536472)
..Van Buchem disease type 2 (C536527)
..Verloes Bourguignon syndrome (C536538)
..Verloes Van Maldergem Marneffe syndrome (C536540)
..Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia (C565179)
..Wolcott-Rallison syndrome (C536739)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

3853

Name:

Dyggve-Melchior-Clausen syndrome

Definition:

Alternative IDs:

OMIM:223800

ParentIDs:

MESH:D004392|MESH:D008607|MESH:D010009

TreeNumbers:

C05.116.099.343/C535726 |C05.116.099.708/C535726 |C10.597.606.360/C535726 |C16.320.240/C535726 |C16.320.728/C535726 |C19.297/C535726 |C23.888.592.604.646/C535726 |F03.625.539/C535726

Synonyms:

DMC |Dyggve-Melchior-Clausen Disease |Dyggve-Melchior-Clausen syndrome X linked |Dyggve-Melchior-Clausen Syndrome, X-Linked |X-linked Dyggve-Melchior-Clausen syndrome

Slim Mappings:

Reference:

MedGen: C535726
MeSH: C535726
OMIM: 223800;
MSeqDR :
Genes: CACNA1H; DYM; EFHC1; GABRB3; GABRG2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001552	Barrel-shaped chest
3	HP:0004568	Beaking of vertebral bodies
4	HP:0001769	Broad foot
5	HP:0001169	Broad palm
6	HP:0012385	Camptodactyly
7	HP:0001498	Carpal bone hypoplasia
8	HP:0000280	Coarse facial features
9	HP:0010230	Cone-shaped epiphyses of the phalanges of the hand
10	HP:0002681	Deformed sella turcica
11	HP:0003521	Disproportionate short-trunk short stature
12	HP:0000920	Enlargement of the costochondral junction
13	HP:0003180	Flat acetabular roof
14	HP:0000911	Flat glenoid fossa
15	HP:0002857	Genu valgum
16	HP:0003311	Hypoplasia of the odontoid process
17	HP:0002692	Hypoplastic facial bones
18	HP:0002866	Hypoplastic iliac wing
19	HP:0000882	Hypoplastic scapulae
20	HP:0008786	Iliac crest serration
21	HP:0002938	Lumbar hyperlordosis
22	HP:0000303	Mandibular prognathia
23	HP:0000252	Microcephaly
24	HP:0006450	Multicentric ossification of proximal femoral epiphyses
25	HP:0004997	Multicentric ossification of proximal humeral epiphyses
26	HP:0003375	Narrow greater sacrosciatic notches
27	HP:0000926	Platyspondyly
28	HP:0008897	Postnatal growth retardation
29	HP:0000884	Prominent sternum
30	HP:0008905	Rhizomelia
31	HP:0002650	Scoliosis
32	HP:0011344	Severe global developmental delay
33	HP:0000914	Shield chest
34	HP:0010049	Short metacarpal
35	HP:0010743	Short metatarsal
36	HP:0000470	Short neck
37	HP:0002684	Thickened calvaria
38	HP:0002942	Thoracic kyphosis
39	HP:0002515	Waddling gait
40	HP:0003183	Wide pubic symphysis

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
GRCh37/hg19 18q21.2(chr18:49286617-49331863)x1	-1	-	Likely pathogenic	-1	RCV003449015;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239	18	49286617	49331863		-
NM_001353214.3(DYM):c.*123G>A	54808	DYM	Uncertain significance	886053843	RCV000345938\|RCV000391857;	N	MONDO:MONDO:0015799,MedGen:C1846431,OMIM:PS607326, Orphanet:178355\|MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239	18	46570302	46570302	18:g.46570302C>T	ClinGen:CA10650866	C0265286 223800 Dyggve-Melchior-Clausen syndrome;
NM_001353214.3(DYM):c.*22G>A	54808	DYM	Likely benign	113500346	RCV000287578\|RCV000345011;	N	MONDO:MONDO:0015799,MedGen:C1846431,OMIM:PS607326, Orphanet:178355\|MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239	18	46570403	46570403	18:g.46570403C>T	ClinGen:CA8957890	C0265286 223800 Dyggve-Melchior-Clausen syndrome;
NM_001353214.3(DYM):c.*12T>C	54808	DYM	Uncertain significance	45452499	RCV000315286\|RCV000405691;	N	MONDO:MONDO:0015799,MedGen:C1846431,OMIM:PS607326, Orphanet:178355\|MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239	18	46570413	46570413	18:g.46570413A>G	ClinGen:CA8957893	C0265286 223800 Dyggve-Melchior-Clausen syndrome;
NM_001353214.3(DYM):c.2164G>T (p.Asp722Tyr)	54808	DYM	Uncertain significance	528865224	RCV000367665\|RCV000405928\|RCV002521164;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239\|MONDO:MONDO:0015799,MedGen:C1846431,OMIM:PS607326, Orphanet:178355\|MedGen:CN517202	18	46570436	46570436	18:g.46570436C>A	ClinGen:CA8957897	C0265286 223800 Dyggve-Melchior-Clausen syndrome;
NM_001353214.3(DYM):c.2053G>A (p.Val685Met)	54808	DYM	Uncertain significance	757286463	RCV000299929\|RCV000357111;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239\|MONDO:MONDO:0015799,MedGen:C1846431,OMIM:PS607326, Orphanet:178355	18	46570547	46570547	18:g.46570547C>T	ClinGen:CA8957911	C0265286 223800 Dyggve-Melchior-Clausen syndrome;
NM_001353214.3(DYM):c.2043del (p.Lys681fs)	54808	DYM	Pathogenic/Likely pathogenic	1471488189	RCV000003342\|RCV001851609;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239\|MedGen:CN517202	18	46570557	46570557	NC_000018.9:g.46570559del	OMIM:607461.0008
NM_001353214.3(DYM):c.1995C>T (p.Gly665=)	54808	DYM	Conflicting interpretations of pathogenicity	370290857	RCV000259918\|RCV000317373\|RCV001859922;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239\|MONDO:MONDO:0015799,MedGen:C1846431,OMIM:PS607326, Orphanet:178355\|MedGen:CN517202	18	46623802	46623802	18:g.46623802G>A	ClinGen:CA8957946	C0265286 223800 Dyggve-Melchior-Clausen syndrome;
NM_001353214.3(DYM):c.1977G>A (p.Leu659=)	54808	DYM	Conflicting interpretations of pathogenicity	201023000	RCV000268552\|RCV000360438\|RCV001399741;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239\|MONDO:MONDO:0015799,MedGen:C1846431,OMIM:PS607326, Orphanet:178355\|MedGen:C3661900	18	46623820	46623820	18:g.46623820C>T	ClinGen:CA8957951	C0265286 223800 Dyggve-Melchior-Clausen syndrome;
NM_001353214.3(DYM):c.1943A>G (p.Gln648Arg)	54808	DYM	Conflicting interpretations of pathogenicity	146000214	RCV000321281\|RCV000378341\|RCV000353342;	N	MONDO:MONDO:0015799,MedGen:C1846431,OMIM:PS607326, Orphanet:178355\|MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239\|MedGen:C3661900	18	46623854	46623854	18:g.46623854T>C	ClinGen:CA8957962	C0265286 223800 Dyggve-Melchior-Clausen syndrome;
NM_001353214.3(DYM):c.1924T>C (p.Phe642Leu)	54808	DYM	Conflicting interpretations of pathogenicity	151034190	RCV000290928\|RCV000329327\|RCV001753786\|RCV003243082;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239\|MONDO:MONDO:0015799,MedGen:C1846431,OMIM:PS607326, Orphanet:178355\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	18	46623873	46623873	18:g.46623873A>G	ClinGen:CA8957965	C0265286 223800 Dyggve-Melchior-Clausen syndrome;
NM_001353214.3(DYM):c.1914G>C (p.Val638=)	54808	DYM	Benign/Likely benign	60818038	RCV000289660\|RCV000381595\|RCV001512745\|RCV002278499;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239\|MONDO:MONDO:0015799,MedGen:C1846431,OMIM:PS607326, Orphanet:178355\|MedGen:C3661900\|MONDO:MONDO:0003900,MedGen:C0009782	18	46623883	46623883	18:g.46623883C>G	ClinGen:CA8957968	C0265286 223800 Dyggve-Melchior-Clausen syndrome;
NM_001353214.3(DYM):c.1868G>A (p.Arg623Gln)	54808	DYM	Conflicting interpretations of pathogenicity	138427861	RCV000351589\|RCV000391081\|RCV000729040;	N	MONDO:MONDO:0015799,MedGen:C1846431,OMIM:PS607326, Orphanet:178355\|MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239\|MedGen:C3661900	18	46645157	46645157	18:g.46645157C>T	ClinGen:CA8958003	C0265286 223800 Dyggve-Melchior-Clausen syndrome;
NM_001353214.3(DYM):c.1762C>T (p.Arg588Ter)	54808	DYM	Pathogenic	780873164	RCV001280803\|RCV001871621;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239\|MedGen:CN517202	18	46645263	46645263	18:g.46645263G>A	-
NM_001353214.3(DYM):c.1728+2T>C	54808	DYM	Pathogenic/Likely pathogenic	2087482291	RCV001352909;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239	18	46690053	46690053	46690053	-
NM_001353214.3(DYM):c.1717C>T (p.Leu573=)	54808	DYM	Conflicting interpretations of pathogenicity	145279594	RCV000293421\|RCV000304877\|RCV000336606\|RCV000888403;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239\|MedGen:CN169374\|MONDO:MONDO:0015799,MedGen:C1846431,OMIM:PS607326, Orphanet:178355\|MedGen:C3661900	18	46690066	46690066	18:g.46690066G>A	ClinGen:CA8958046	C0265286 223800 Dyggve-Melchior-Clausen syndrome;
NM_001353214.3(DYM):c.1653_1654del (p.His551fs)	54808	DYM	Pathogenic	2087496511	RCV001352908;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239	18	46690129	46690130	46690128	-
NM_001353214.3(DYM):c.1650dup (p.His551fs)	54808	DYM	Pathogenic	2087498329	RCV001352905;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239	18	46690132	46690133	46690132	-
NM_017653.6(DYM):c.1461-8T>G	54808	DYM	Conflicting interpretations of pathogenicity	374658638	RCV000900446\|RCV001125614\|RCV001125613;	N	MedGen:CN517202\|MONDO:MONDO:0011814,MedGen:C3888088,OMIM:607326\|MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239	18	46690165	46690165	18:g.46690165A>C	-
NM_001353214.3(DYM):c.1405A>T (p.Asn469Tyr)	54808	DYM	Pathogenic	120074163	RCV000003337;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239	18	46783435	46783435	18:g.46783435T>A	ClinGen:CA116049,UniProtKB:Q7RTS9#VAR_054499,OMIM:607461.0004	C0265286 223800 Dyggve-Melchior-Clausen syndrome;
NM_001353214.3(DYM):c.1344A>G (p.Gln448=)	54808	DYM	Uncertain significance	77902523	RCV000174382\|RCV000297024\|RCV000404920;	N	MedGen:C3661900\|MONDO:MONDO:0015799,MedGen:C1846431,OMIM:PS607326, Orphanet:178355\|MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239	18	46784771	46784771	18:g.46784771T>C	ClinGen:CA239916	C0265286 223800 Dyggve-Melchior-Clausen syndrome;
NM_001353214.3(DYM):c.1252-1G>A	54808	DYM	Pathogenic	1568119124	RCV000003341\|RCV001851608;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239\|MedGen:CN517202	18	46784864	46784864	NC_000018.9:g.46784864C>T	OMIM:607461.0007
NM_001353214.3(DYM):c.1251+12T>C	54808	DYM	Uncertain significance	374105000	RCV000354205\|RCV000402920;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239\|MONDO:MONDO:0011814,MedGen:C3888088,OMIM:607326	18	46798536	46798536	18:g.46798536A>G	ClinGen:CA8958130	C0265286 223800 Dyggve-Melchior-Clausen syndrome;
NM_001353214.3(DYM):c.1222del (p.Asp408fs)	54808	DYM	Pathogenic	2145537667	RCV001358802;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239	18	46798577	46798577	46798576	-
NM_001353214.3(DYM):c.1177_1178del (p.His393fs)	54808	DYM	Pathogenic	-1	RCV002281596;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239	18	46798621	46798622	46798620	-
NM_001353214.3(DYM):c.1116G>A (p.Met372Ile)	54808	DYM	Uncertain significance	775476671	RCV000305353\|RCV000357801;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239\|MONDO:MONDO:0015799,MedGen:C1846431,OMIM:PS607326, Orphanet:178355	18	46808376	46808376	18:g.46808376C>T	ClinGen:CA8958168	C0265286 223800 Dyggve-Melchior-Clausen syndrome;
NM_001353214.3(DYM):c.1115T>C (p.Met372Thr)	54808	DYM	Uncertain significance	886053844	RCV000267104\|RCV000326840;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239\|MONDO:MONDO:0015799,MedGen:C1846431,OMIM:PS607326, Orphanet:178355	18	46808377	46808377	18:g.46808377A>G	ClinGen:CA10650872	C0265286 223800 Dyggve-Melchior-Clausen syndrome;
NM_001353214.3(DYM):c.1049T>G (p.Leu350Arg)	54808	DYM	Uncertain significance	1260746745	RCV001352907;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239	18	46808443	46808443	46808443	-
NM_001353214.3(DYM):c.980C>A (p.Ala327Asp)	54808	DYM	Uncertain significance	147724274	RCV000272862\|RCV000362850\|RCV001859923\|RCV002521165;	N	MONDO:MONDO:0015799,MedGen:C1846431,OMIM:PS607326, Orphanet:178355\|MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	18	46808512	46808512	18:g.46808512G>T	ClinGen:CA8958183	C0265286 223800 Dyggve-Melchior-Clausen syndrome;
NM_001353214.3(DYM):c.963del (p.Ser322fs)	54808	DYM	Pathogenic	2095000244	RCV001352911;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239	18	46808529	46808529	46808528	-
NM_001353214.3(DYM):c.961C>T (p.Pro321Ser)	54808	DYM	Uncertain significance	886053845	RCV000327995\|RCV000387047;	N	MONDO:MONDO:0015799,MedGen:C1846431,OMIM:PS607326, Orphanet:178355\|MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239	18	46808531	46808531	NC_000018.9:g.46808531G>A	ClinGen:CA10647683	C0265286 223800 Dyggve-Melchior-Clausen syndrome;
NM_001353214.3(DYM):c.947-2A>G	54808	DYM	Pathogenic/Likely pathogenic	567638775	RCV001262584\|RCV003416139;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239\|	18	46808547	46808547	18:g.46808547T>C	-
NM_001353214.3(DYM):c.920C>T (p.Ala307Val)	54808	DYM	Uncertain significance	200843715	RCV000292810\|RCV000333578;	N	MONDO:MONDO:0015799,MedGen:C1846431,OMIM:PS607326, Orphanet:178355\|MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239	18	46812830	46812830	NC_000018.9:g.46812830G>A	ClinGen:CA8958209	C0265286 223800 Dyggve-Melchior-Clausen syndrome;
NM_001353214.3(DYM):c.899C>T (p.Ala300Val)	54808	DYM	Uncertain significance	781028696	RCV001336382;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239	18	46812851	46812851	46812851	-
NM_001353214.3(DYM):c.831T>C (p.Ser277=)	54808	DYM	Uncertain significance	886053846	RCV000279749\|RCV000388061;	N	MONDO:MONDO:0015799,MedGen:C1846431,OMIM:PS607326, Orphanet:178355\|MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239	18	46812919	46812919	NC_000018.9:g.46812919A>G	ClinGen:CA10651667	C0265286 223800 Dyggve-Melchior-Clausen syndrome;
NM_001353214.3(DYM):c.763del (p.Thr255fs)	54808	DYM	Pathogenic	1568264929	RCV000003335;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239	18	46858234	46858234	NC_000018.9:g.46858235del	OMIM:607461.0002
NM_001353214.3(DYM):c.719C>A (p.Ser240Ter)	54808	DYM	Pathogenic	767767037	RCV001328005;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239	18	46858278	46858278	46858278	-
NM_001353214.3(DYM):c.705_708dup (p.Pro237fs)	54808	DYM	Pathogenic	2063332964	RCV001352910;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239	18	46858288	46858289	46858288	-
NM_001353214.3(DYM):c.621-2A>G	54808	DYM	Pathogenic	775414124	RCV000003338\|RCV000003339\|RCV000180341;	N	MONDO:MONDO:0011814,MedGen:C3888088,OMIM:607326\|MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239\|MedGen:CN517202	18	46858378	46858378	18:g.46858378T>C	ClinGen:CA203660,OMIM:607461.0005	C0265286 223800 Dyggve-Melchior-Clausen syndrome;
NM_001353214.3(DYM):c.620+4T>G	54808	DYM	Conflicting interpretations of pathogenicity	201652921	RCV000377528\|RCV001125698\|RCV001125697\|RCV002278306;	N	MedGen:C3661900\|MONDO:MONDO:0011814,MedGen:C3888088,OMIM:607326\|MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239\|MONDO:MONDO:0003900,MedGen:C0009782	18	46860094	46860094	18:g.46860094A>C	ClinGen:CA8958322	CN169374 not specified;
NM_001353214.3(DYM):c.610C>T (p.Arg204Ter)	54808	DYM	Pathogenic	-1	RCV003326703;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239	18	46860108	46860108		-
NM_001353214.3(DYM):c.573A>T (p.Glu191Asp)	54808	DYM	Conflicting interpretations of pathogenicity	370414289	RCV000334825\|RCV000375153\|RCV000940130;	N	MONDO:MONDO:0015799,MedGen:C1846431,OMIM:PS607326, Orphanet:178355\|MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239\|MedGen:C3661900	18	46860145	46860145	NC_000018.9:g.46860145T>A	ClinGen:CA8958333	C0265286 223800 Dyggve-Melchior-Clausen syndrome;
NM_001353214.3(DYM):c.550T>C (p.Ser184Pro)	54808	DYM	Uncertain significance	2063482690	RCV001352906;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239	18	46860168	46860168	46860168	-
NM_001353214.3(DYM):c.445dup (p.Glu149fs)	54808	DYM	Pathogenic	2147362866	RCV002227914;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239	18	46889579	46889580	46889579	-
NM_001353214.3(DYM):c.422-2A>G	54808	DYM	Pathogenic	1568319747	RCV000003343;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239	18	46889605	46889605	NC_000018.9:g.46889605T>C	OMIM:607461.0009
NM_001353214.3(DYM):c.421A>G (p.Ser141Gly)	54808	DYM	Benign/Likely benign	61729806	RCV000280905\|RCV000340550\|RCV000514424\|RCV002278500;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239\|MONDO:MONDO:0015799,MedGen:C1846431,OMIM:PS607326, Orphanet:178355\|MedGen:C3661900\|MONDO:MONDO:0003900,MedGen:C0009782	18	46904937	46904937	NC_000018.9:g.46904937T>C	ClinGen:CA8958409	C0265286 223800 Dyggve-Melchior-Clausen syndrome;
NM_001353214.3(DYM):c.396T>A (p.Tyr132Ter)	54808	DYM	Pathogenic/Likely pathogenic	120074162	RCV000003336\|RCV001851607\|RCV002482820\|RCV002512699;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239\|MedGen:CN517202\|MONDO:MONDO:0011814,MedGen:C3888088,OMIM:607326; MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239\|MeSH:D030342,MedGen:C0950123	18	46904962	46904962	18:g.46904962A>T	ClinGen:CA116047,OMIM:607461.0003	C0265286 223800 Dyggve-Melchior-Clausen syndrome;
NM_001353214.3(DYM):c.342G>A (p.Leu114=)	54808	DYM	Benign/Likely benign	35357262	RCV000305151\|RCV000393797\|RCV001511130\|RCV002278501;	N	MONDO:MONDO:0015799,MedGen:C1846431,OMIM:PS607326, Orphanet:178355\|MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239\|MedGen:C3661900\|MONDO:MONDO:0003900,MedGen:C0009782	18	46905016	46905016	NC_000018.9:g.46905016C>T	ClinGen:CA8958421	C0265286 223800 Dyggve-Melchior-Clausen syndrome;
NM_001353214.3(DYM):c.321G>A (p.Leu107=)	54808	DYM	Conflicting interpretations of pathogenicity	16950519	RCV000341380\|RCV000402458\|RCV000907132\|RCV002278502;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239\|MONDO:MONDO:0015799,MedGen:C1846431,OMIM:PS607326, Orphanet:178355\|MedGen:C3661900\|MONDO:MONDO:0003900,MedGen:C0009782	18	46905037	46905037	NC_000018.9:g.46905037C>T	ClinGen:CA8958423	C0265286 223800 Dyggve-Melchior-Clausen syndrome;
NM_001353214.3(DYM):c.297C>T (p.Phe99=)	54808	DYM	Uncertain significance	886053847	RCV000306305\|RCV000365773;	N	MONDO:MONDO:0015799,MedGen:C1846431,OMIM:PS607326, Orphanet:178355\|MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239	18	46905061	46905061	NC_000018.9:g.46905061G>A	ClinGen:CA10641519	C0265286 223800 Dyggve-Melchior-Clausen syndrome;
NM_001353214.3(DYM):c.288-10G>A	54808	DYM	Conflicting interpretations of pathogenicity	557407004	RCV000271206\|RCV000312331\|RCV000372965;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239\|MONDO:MONDO:0011814,MedGen:C3888088,OMIM:607326\|MedGen:C3661900	18	46905080	46905080	18:g.46905080C>T	ClinGen:CA8958429	C0265286 223800 Dyggve-Melchior-Clausen syndrome;
NM_001353214.3(DYM):c.208C>T (p.Arg70Ter)	54808	DYM	Pathogenic/Likely pathogenic	768509996	RCV000519107\|RCV001591181;	N	MedGen:CN517202\|MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239	18	46906114	46906114	18:g.46906114G>A	ClinGen:CA8958460	CN517202 not provided;
NM_001353214.3(DYM):c.193+9G>A	54808	DYM	Benign	111744206	RCV000276533\|RCV000367031\|RCV000957756\|RCV002278503;	N	MONDO:MONDO:0011814,MedGen:C3888088,OMIM:607326\|MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239\|MedGen:C3661900\|MONDO:MONDO:0003900,MedGen:C0009782	18	46917954	46917954	NC_000018.9:g.46917954C>T	ClinGen:CA8958474	C0265286 223800 Dyggve-Melchior-Clausen syndrome;
NM_001353214.3(DYM):c.99G>A (p.Trp33Ter)	54808	DYM	Likely pathogenic	-1	RCV003340804;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239	18	46956666	46956666		-
NM_001353214.3(DYM):c.95dup (p.Trp33fs)	54808	DYM	Pathogenic	1600192503	RCV001004617;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239	18	46956669	46956670	18:g.46956669_46956670insA	-
NM_001353214.3(DYM):c.59T>A (p.Leu20Ter)	54808	DYM	Pathogenic	2074694091	RCV001783166\|RCV002250771;	N	MedGen:C3661900\|MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239	18	46956706	46956706	46956706	-
NM_001353214.3(DYM):c.54_55insC (p.Lys19fs)	54808	DYM	Likely pathogenic	2148459355	RCV001391227;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239	18	46956710	46956711	46956710	-
NM_001353214.3(DYM):c.48C>G (p.Tyr16Ter)	54808	DYM	Pathogenic	120074161	RCV000003334;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239	18	46956717	46956717	18:g.46956717G>C	ClinGen:CA116045,OMIM:607461.0001	C0265286 223800 Dyggve-Melchior-Clausen syndrome;
NM_001353214.3(DYM):c.42T>G (p.Asn14Lys)	54808	DYM	Uncertain significance	768630165	RCV000317600\|RCV000372208;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239\|MONDO:MONDO:0015799,MedGen:C1846431,OMIM:PS607326, Orphanet:178355	18	46956723	46956723	NC_000018.9:g.46956723A>C	ClinGen:CA8958523	C0265286 223800 Dyggve-Melchior-Clausen syndrome;
NM_001353214.3(DYM):c.21A>T (p.Arg7Ser)	54808	DYM	Uncertain significance	765630940	RCV000263518\|RCV000318563;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239\|MONDO:MONDO:0015799,MedGen:C1846431,OMIM:PS607326, Orphanet:178355	18	46956744	46956744	NC_000018.9:g.46956744T>A	ClinGen:CA8958529	C0265286 223800 Dyggve-Melchior-Clausen syndrome;
NM_001353214.3(DYM):c.-94G>C	54808	DYM	Uncertain significance	886053848	RCV000283427\|RCV000377915;	N	MONDO:MONDO:0015799,MedGen:C1846431,OMIM:PS607326, Orphanet:178355\|MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239	18	46986808	46986808	NC_000018.9:g.46986808C>G	ClinGen:CA10641520	C0265286 223800 Dyggve-Melchior-Clausen syndrome;
NM_001353214.3(DYM):c.-154G>T	54808	DYM	Uncertain significance	547563112	RCV000343061\|RCV000379415;	N	MONDO:MONDO:0015799,MedGen:C1846431,OMIM:PS607326, Orphanet:178355\|MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239	18	46986868	46986868	NC_000018.9:g.46986868C>A	ClinGen:CA10641521	C0265286 223800 Dyggve-Melchior-Clausen syndrome;
NM_001353214.3(DYM):c.-169G>A	54808	DYM	Uncertain significance	886053849	RCV000289688\|RCV000344687;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239\|MONDO:MONDO:0015799,MedGen:C1846431,OMIM:PS607326, Orphanet:178355	18	46986883	46986883	NC_000018.9:g.46986883C>T	ClinGen:CA10651668	C0265286 223800 Dyggve-Melchior-Clausen syndrome;
NM_001353214.3(DYM):c.-215G>A	54808	DYM	Uncertain significance	567710822	RCV000309714\|RCV000406741;	N	MONDO:MONDO:0015799,MedGen:C1846431,OMIM:PS607326, Orphanet:178355\|MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239	18	46986929	46986929	NC_000018.9:g.46986929C>T	ClinGen:CA10651669	C0265286 223800 Dyggve-Melchior-Clausen syndrome;
NM_001353214.3(DYM):c.-222G>A	54808	DYM	Uncertain significance	374894787	RCV000350522\|RCV000406341;	N	MONDO:MONDO:0015799,MedGen:C1846431,OMIM:PS607326, Orphanet:178355\|MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239	18	46986936	46986936	NC_000018.9:g.46986936C>T	ClinGen:CA10647687	C0265286 223800 Dyggve-Melchior-Clausen syndrome;
NM_001353214.3(DYM):c.-238G>T	54808	DYM	Uncertain significance	886053850	RCV000315479\|RCV000369169;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239\|MONDO:MONDO:0015799,MedGen:C1846431,OMIM:PS607326, Orphanet:178355	18	46986952	46986952	NC_000018.9:g.46986952C>A	ClinGen:CA10650877	C0265286 223800 Dyggve-Melchior-Clausen syndrome;
NM_001353214.3(DYM):c.-243C>T	54808	DYM	Uncertain significance	886053851	RCV000260387\|RCV000296949;	N	MONDO:MONDO:0015799,MedGen:C1846431,OMIM:PS607326, Orphanet:178355\|MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239	18	46986957	46986957	NC_000018.9:g.46986957G>A	ClinGen:CA10651670	C0265286 223800 Dyggve-Melchior-Clausen syndrome;
NM_001353214.3(DYM):c.-251G>T	54808	DYM	Uncertain significance	886053852	RCV000261717\|RCV000356471;	N	MONDO:MONDO:0015799,MedGen:C1846431,OMIM:PS607326, Orphanet:178355\|MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239	18	46986965	46986965	NC_000018.9:g.46986965C>A	ClinGen:CA10641524	C0265286 223800 Dyggve-Melchior-Clausen syndrome;
NM_001353214.3(DYM):c.-294C>T	54808	DYM	Uncertain significance	369624199	RCV000321604\|RCV000376302;	N	MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239\|MONDO:MONDO:0015799,MedGen:C1846431,OMIM:PS607326, Orphanet:178355	18	46987008	46987008	NC_000018.9:g.46987008G>A	ClinGen:CA10651671	C0265286 223800 Dyggve-Melchior-Clausen syndrome;
NM_017653.4(DYM):c.-309G>C	54808	DYM	Benign	28364579	RCV000268340\|RCV000323440;	N	MONDO:MONDO:0015799,MedGen:C1846431,OMIM:PS607326, Orphanet:178355\|MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800, Orphanet:239	18	46987023	46987023	NC_000018.9:g.46987023C>G	ClinGen:CA10651673	C0265286 223800 Dyggve-Melchior-Clausen syndrome;

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