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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: Hair Diseases (D006201)
Parent Node: Skin Diseases, Genetic (D012873)
..Starting node ..Skin Fragility-Woolly Hair Syndrome (C564359)
Child Nodes:
Sister Nodes:
..Actinic Prurigo (C566780)
..Albinism (D000417) 30
..Amyloidosis IX (C562643)
..Amyloidosis, Cutaneous Bullous (C562644)
..Amyloidosis, Primary Cutaneous (C562642)
..Annular Erythema (C562461)
..Arterial Tortuosity Syndrome (C565942)
..Atrophia Maculosa Varioliformis Cutis, Familial (C563349)
..Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant (C565284)
..Buschke-Ollendorff syndrome (C537415)
..Collagenosis, Familial Reactive Perforating (C565687)
..Cutis Laxa (D003483) 17
..Darier Disease (D007644) 7
..Dermatitis, Atopic (D003876) 9
..Dowling-Degos Disease (C562924)
..Dyschromatosis universalis hereditaria (C535730)
..Dyschromatosis Universalis Hereditaria 1 (C567273)
..Dyschromatosis Universalis Hereditaria 2 (C567194)
..DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 (OMIM:615402)
..Dyskeratosis Congenita (D019871) 3
..Ectodermal Dysplasia (D004476) 144 C:1
..Ehlers-Danlos Syndrome (D004535) 23
..Epidermolysis Bullosa (D004820) 29
..Erythrokeratodermia Variabilis (D056266) 3
..Erythrokeratodermia with ataxia (C535738)
..Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like (C564309)
..Fingerprints, Absence of (C565010)
..Follicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts (C566360)
..Gerodermia osteodysplastica (C537799)
..Hereditary Autoinflammatory Diseases (D056660) 10
..Histiocytic Dermatoarthritis (C564183)
..Hyalinosis, Systemic (D057770)
..Hyaluronan Metabolism, Defect in (C565742)
..Ichthyosiform Erythroderma, Congenital (D016113) 18
..Ichthyosis Bullosa of Siemens (D053560)
..Ichthyosis Vulgaris (D016112) 1
..Ichthyosis, X-Linked (D016114) 2
..Incontinentia Pigmenti (D007184) 2
..Juvenile Spring Eruption of Ears (C566781)
..Keratoderma, Palmoplantar (D007645) 45
..Keratolytic winter erythema (C536155)
..Keratosis Follicularis Spinulosa Decalvans, X-Linked (C536159)
..Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (C566600)
..Leukokeratosis, Hereditary Mucosal (D053529)
..Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440)
..Lipoid Proteinosis of Urbach and Wiethe (D008065)
..Monilethrix (D056734) 1
..Muir-Torre Syndrome (D055653)
..Netherton Syndrome (D056770)
..Noduli Cutanei, Multiple, with Urinary Tract Abnormalities (C563512)
..Oculotrichodysplasia (C564934)
..Onychogryposis, Pedal, with Keratosis Plantaris and Coarse Hair (C563506)
..Orofaciodigital syndrome 9 (C557818)
..Osseous Heteroplasia, Progressive (C562735)
..Osteopoikilosis, Isolated (C563484)
..Parana Hard Skin Syndrome (C564905)
..Peeling Skin Syndrome (C564818)
..Pemphigus, Benign Familial (D016506)
..Perifolliculitis Capitis Abscedens Et Suffodiens, Familial (C562486)
..Pigmentary Disorder, Reticulate, with Systemic Manifestations (C564461)
..Plasminogen Deficiency, Type I (C566897)
..Poikiloderma, Hereditary Sclerosing (C562824)
..Porokeratosis (D017499) 7
..Porphyria, Erythropoietic (D017092)
..Porphyrias, Hepatic (D017094) 14
..Prolidase Deficiency (D056732)
..Pseudoxanthoma Elasticum (D011561) 2
..Rothmund-Thomson Syndrome (D011038) 5
..Sjogren-Larsson Syndrome (D016111) 1
..Skin Fragility-Woolly Hair Syndrome (C564359)
..Stiff Skin Syndrome (C566112)
..Storm Syndrome (C566109)
..Trichothiodystrophy Syndromes (D054463) 5
..Vitiligo, Progressive, with Mental Retardation and Urethral Duplication (C564739)
..Vohwinkel Syndrome, Variant Form (C565826)
..Xeroderma Pigmentosum (D014983) 16
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

11290

Name:

Skin Fragility-Woolly Hair Syndrome

Definition:

Alternative IDs:

OMIM:607655

ParentIDs:

MESH:D006201|MESH:D012873

TreeNumbers:

C16.320.850/C564359 |C17.800.329/C564359 |C17.800.827/C564359

Synonyms:

SFWHS

Slim Mappings:

Genetic disease (inborn)|Skin disease

Reference:

MedGen: C564359
MeSH: C564359
OMIM: 607655;
MSeqDR :
Genes: DSP;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001626	Abnormality of the cardiovascular system NAMDC: Cardiac:Maybe HP:0001626
3	HP:0001596	Alopecia
4	HP:0001508	Failure to thrive
5	HP:0001030	Fragile skin
6	HP:0002164	Nail dysplasia
7	HP:0008404	Nail dystrophy
8	HP:0007548	Palmoplantar keratosis with erythema and scale
9	HP:0000535	Sparse and thin eyebrow
10	HP:0000653	Sparse eyelashes
11	HP:0002224	Woolly hair

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_004415.3(DSP):c.-281C>T	1832	DSP	Likely benign	rs547069600	RCV000282042\|RCV000292531\|RCV000349784\|RCV000391277;	N	MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:158668\|MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247	6	7541868	7541868	6:g.7541868C>T	ClinGen:CA10654703	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.3(DSP):c.-260A>G	1832	DSP	Uncertain significance	rs886061738	RCV000267663\|RCV000284763\|RCV000322798\|RCV000377463;	N	MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:158668\|MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687	6	7541889	7541889	NC_000006.11:g.7541889A>G	ClinGen:CA10627557	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.-228C>A	1832	DSP	Uncertain significance	rs886061739	RCV000278809\|RCV000318739\|RCV000336125\|RCV000375621;	N	MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:158668\|MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687	6	7541921	7541921	NC_000006.11:g.7541921C>A	ClinGen:CA10622688	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.-190G>T	1832	DSP	Uncertain significance	rs886061740	RCV000296350\|RCV000348911\|RCV000395573\|RCV000403802;	N	MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:158668	6	7541959	7541959	NC_000006.11:g.7541959G>T	ClinGen:CA10627585	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.-179T>C	1832	DSP	Uncertain significance	rs886061741	RCV000307987\|RCV000309060\|RCV000366106\|RCV000399936;	N	MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247\|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:158668\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687	6	7541970	7541970	NC_000006.11:g.7541970T>C	ClinGen:CA10627586	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.-157G>A	1832	DSP	Uncertain significance	rs886061742	RCV000320762\|RCV000358755\|RCV000360336\|RCV002480237;	N	MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|6 conditions	6	7541992	7541992	NC_000006.11:g.7541992G>A	ClinGen:CA10624618	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.-104G>A	1832	DSP	Uncertain significance	rs1757981061	RCV001160713\|RCV001160714\|RCV001160715;	N	MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687	6	7542045	7542045	6:g.7542045G>A	-
NM_004415.4(DSP):c.-76C>T	1832	DSP	Uncertain significance	rs377133467	RCV001160716\|RCV001160717\|RCV001162337;	N	MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450	6	7542073	7542073	6:g.7542073C>T	-
NM_004415.4(DSP):c.-70C>T	1832	DSP	Uncertain significance	rs1757982573	RCV001162338\|RCV001162340\|RCV001162339\|RCV002505741;	N	MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|6 conditions	6	7542079	7542079	6:g.7542079C>T	-
NM_004415.4(DSP):c.-36C>A	1832	DSP	Uncertain significance	rs886061743	RCV000261550\|RCV000279362\|RCV000319184\|RCV000371500;	N	MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247\|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:158668\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687	6	7542113	7542113	6:g.7542113C>A	ClinGen:CA10624619	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.1dup (p.Met1fs)	1832	DSP	Conflicting interpretations of pathogenicity	rs17133512	RCV000037982\|RCV000292424\|RCV000346732\|RCV000389020\|RCV000622220\|RCV000771055\|RCV000845351\|RCV001253578;	N	MedGen:CN169374\|MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MedGen:CN230736\|Human Phenotype Ontology:HP:0001638,MONDO:MO	6	7542149	7542149	NC_000006.11:g.7542149dup	ClinGen:CA282478
NM_004415.4(DSP):c.9C>T (p.Cys3=)	1832	DSP	Conflicting interpretations of pathogenicity	rs769032973	RCV000288181\|RCV000345539\|RCV000406100\|RCV000620987;	N	MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MedGen:CN230736	6	7542157	7542157	6:g.7542157C>T	ClinGen:CA053491	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.36C>T (p.Asn12=)	1832	DSP	Uncertain significance	rs886061744	RCV000260128\|RCV000357454\|RCV000370214;	N	MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165	6	7542184	7542184	6:g.7542184C>T	ClinGen:CA10624622	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.105G>A (p.Gly35=)	1832	DSP	Benign/Likely benign	rs77445784	RCV000029675\|RCV000037983\|RCV000227163\|RCV000271030\|RCV000330639\|RCV000387490\|RCV001084479\|RCV002496451;	N	Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO	6	7542253	7542253	6:g.7542253G>A	ClinGen:CA004756	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.126T>C (p.Tyr42=)	1832	DSP	Benign	rs36087964	RCV000037988\|RCV000288715\|RCV000341384\|RCV000379727\|RCV000618314\|RCV000771064\|RCV001518697\|RCV001594825;	N	MedGen:CN169374\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MedGen:CN230736\|Human Phenotype Ontology:HP:0001638,MONDO:MON	6	7542274	7542274	NC_000006.11:g.7542274T>C	ClinGen:CA004854
NM_004415.4(DSP):c.264C>T (p.Ile88=)	1832	DSP	Conflicting interpretations of pathogenicity	rs727502997	RCV000150555\|RCV000301234\|RCV000340926\|RCV000283641\|RCV000588501\|RCV001087334\|RCV001188350\|RCV002453482;	N	MedGen:CN169374\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MedGen:CN517202\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:6056	6	7556044	7556044	6:g.7556044C>T	ClinGen:CA005476	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.269A>G (p.Gln90Arg)	1832	DSP	Conflicting interpretations of pathogenicity	rs188516326	RCV000150556\|RCV000313888\|RCV000335027\|RCV000397112\|RCV000462579\|RCV000771368\|RCV001704080\|RCV002433644;	N	MedGen:CN169374\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:6528	6	7556049	7556049	NC_000006.11:g.7556049A>G	ClinGen:CA005503
NM_004415.4(DSP):c.273+10C>T	1832	DSP	Benign/Likely benign	rs56148603	RCV000038013\|RCV000269015\|RCV000274004\|RCV000312765\|RCV000475126\|RCV001534258\|RCV003125857;	N	MedGen:CN169374\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450; MONDO:MONDO:0	6	7556063	7556063	6:g.7556063C>T	ClinGen:CA005523	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.314G>A (p.Arg105Gln)	1832	DSP	Conflicting interpretations of pathogenicity	rs762238621	RCV001162438\|RCV001162437\|RCV001162439\|RCV001190883\|RCV002032499\|RCV002320382\|RCV002505742;	N	MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orpha	6	7558389	7558389	6:g.7558389G>A	-
NM_004415.4(DSP):c.718G>C (p.Ala240Pro)	1832	DSP	Uncertain significance	rs1758741133	RCV001164474\|RCV001164475\|RCV001164476;	N	MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450	6	7563005	7563005	6:g.7563005G>C	-
NM_004415.4(DSP):c.727-11T>C	1832	DSP	Uncertain significance	rs886061745	RCV000268002\|RCV000320821\|RCV000326376;	N	MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165	6	7563958	7563958	6:g.7563958T>C	ClinGen:CA10627591	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.861T>G (p.Asn287Lys)	1832	DSP	Pathogenic	rs121912993	RCV000018333;	N	MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165	6	7565675	7565675	6:g.7565675T>G	OMIM:125647.0004,ClinGen:CA007767,UniProtKB:P15924#VAR_015569	C1843292 607655 Skin fragility woolly hair syndrome;
NM_004415.4(DSP):c.889G>A (p.Asp297Asn)	1832	DSP	Conflicting interpretations of pathogenicity	rs201930322	RCV000038117\|RCV000337806\|RCV000371415\|RCV000377642\|RCV000467769\|RCV000777710\|RCV000786123\|RCV001256830;	N	MedGen:CN169374\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450; MONDO:MONDO:0	6	7565703	7565703	NC_000006.11:g.7565703G>A	ClinGen:CA007809
NM_004415.4(DSP):c.913A>G (p.Ile305Val)	1832	DSP	Uncertain significance	rs17604693	RCV000279302\|RCV000311275\|RCV000350684\|RCV000621000\|RCV001187912\|RCV001227890;	N	MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MedGen:CN230736\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGe	6	7565727	7565727	NC_000006.11:g.7565727A>G	ClinGen:CA053014	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.939C>T (p.Ser313=)	1832	DSP	Conflicting interpretations of pathogenicity	rs766580649	RCV000214984\|RCV000264555\|RCV000304703\|RCV000361568\|RCV000395114\|RCV001187858\|RCV001726053\|RCV002444862\|RCV002517546;	N	MedGen:CN169374\|MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:158668\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293	6	7565753	7565753	6:g.7565753C>T	ClinGen:CA053203	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.1149A>G (p.Glu383=)	1832	DSP	Conflicting interpretations of pathogenicity	rs572980966	RCV000295399\|RCV000373493\|RCV000386417\|RCV001171085\|RCV002058630;	N	MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orpha	6	7568022	7568022	NC_000006.11:g.7568022A>G	ClinGen:CA027087	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.1206G>A (p.Lys402=)	1832	DSP	Conflicting interpretations of pathogenicity	rs150422458	RCV000154520\|RCV000248482\|RCV000306089\|RCV000341310\|RCV000360771\|RCV000586565\|RCV000771129\|RCV001084107;	N	MedGen:CN169374\|MedGen:CN230736\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MedGen:CN517202\|Human Phenotype Ontology:HP:0	6	7568079	7568079	NC_000006.11:g.7568079G>A	ClinGen:CA004810
NM_004415.4(DSP):c.1469G>A (p.Arg490His)	1832	DSP	Uncertain significance	rs747815091	RCV000262316\|RCV000297782\|RCV000357218\|RCV000394321\|RCV000618799\|RCV000477531\|RCV001184739;	N	MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:158668\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MedGen:CN230	6	7569468	7569468	NC_000006.11:g.7569468G>A	ClinGen:CA028300	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe)	1832	DSP	Benign/Likely benign	rs28763961	RCV000037993\|RCV000242202\|RCV000332582\|RCV000331609\|RCV000367547\|RCV000473405\|RCV000776055\|RCV001705681\|RCV002490515;	N	MedGen:CN169374\|MedGen:CN230736\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:6056	6	7569480	7569480	6:g.7569480A>T	ClinGen:CA004966	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.1488G>A (p.Thr496=)	1832	DSP	Benign/Likely benign	rs35820473	RCV000037994\|RCV000234308\|RCV000250673\|RCV000328806\|RCV000382508\|RCV000383353\|RCV000770236\|RCV001086570;	N	MedGen:CN169374\|MedGen:CN517202\|MedGen:CN230736\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|Human Phenotype Ontology:HP:0	6	7569487	7569487	NC_000006.11:g.7569487G>A	ClinGen:CA004981
NM_004415.4(DSP):c.1493C>T (p.Pro498Leu)	1832	DSP	Uncertain significance	rs761051181	RCV001063474\|RCV001809974;	N	MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165	6	7569492	7569492	6:g.7569492C>T	-
NM_004415.4(DSP):c.1562A>C (p.Asp521Ala)	1832	DSP	Conflicting interpretations of pathogenicity	rs748790273	RCV000457295\|RCV000786125\|RCV001159661\|RCV001159662\|RCV001161048\|RCV001184030;	N	MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MedGen:CN517202\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:29316	6	7569561	7569561	NC_000006.11:g.7569561A>C	ClinGen:CA028703	C1843896 607450 Arrhythmogenic right ventricular cardiomyopathy, type 8;
NM_004415.4(DSP):c.1574+14G>T	1832	DSP	Conflicting interpretations of pathogenicity	rs200443042	RCV000037996\|RCV001161051\|RCV001161050\|RCV001161049\|RCV001528753\|RCV002054684;	N	MedGen:CN169374\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MedGen:CN517202\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:6074	6	7569587	7569587	6:g.7569587G>T	ClinGen:CA005026	CN169374 not specified;
NM_004415.4(DSP):c.1575-15C>G	1832	DSP	Conflicting interpretations of pathogenicity	rs369184165	RCV000610554\|RCV001161053\|RCV001161054\|RCV001161052\|RCV001176071\|RCV001726265\|RCV002066669;	N	MedGen:CN169374\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGe	6	7570655	7570655	6:g.7570655C>G	ClinGen:CA028898	CN169374 not specified;
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)	1832	DSP	Conflicting interpretations of pathogenicity	rs148147581	RCV000148476\|RCV000150560\|RCV000285554\|RCV000284191\|RCV000476727\|RCV000515316\|RCV000617402\|RCV000626864\|RCV000735747\|RCV000771793\|RCV000766877;	N	MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247\|MedGen:CN169374\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:652	6	7570791	7570791	6:g.7570791G>A	ClinGen:CA004119	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.1840G>A (p.Asp614Asn)	1832	DSP	Conflicting interpretations of pathogenicity	rs764951792	RCV000271772\|RCV000307717\|RCV000322152\|RCV000686489\|RCV001188878\|RCV001753831\|RCV002481232;	N	MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:00	6	7571754	7571754	NC_000006.11:g.7571754G>A	ClinGen:CA030240	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.1848G>A (p.Gln616=)	1832	DSP	Conflicting interpretations of pathogenicity	rs1215425090	RCV001164685\|RCV001164684\|RCV001164686\|RCV003117795;	N	MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450; MONDO:MONDO:0011581,MedGen:C1	6	7571762	7571762	6:g.7571762G>A	-
NM_004415.4(DSP):c.1903+4G>A	1832	DSP	Conflicting interpretations of pathogenicity	rs757726608	RCV001159760\|RCV001164687\|RCV001188930\|RCV001164688\|RCV001699513\|RCV001702085\|RCV001859036\|RCV002411657;	N	MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0011831,MedGen:C1843896,O	6	7571821	7571821	6:g.7571821G>A	-
NM_004415.4(DSP):c.1903+7T>C	1832	DSP	Benign	rs28763962	RCV000029678\|RCV000038002\|RCV000268301\|RCV000323163\|RCV000373194\|RCV000466941\|RCV001573573;	N	Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MedGen:CN169374\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,O	6	7571824	7571824	6:g.7571824T>C	ClinGen:CA005178	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.1904-49T>A	1832	DSP	Benign	rs2076303	RCV000248376\|RCV000830275\|RCV001660258\|RCV001660260\|RCV001660257\|RCV001660259\|RCV001660256;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0014355,MedGen:C4014393,OMIM:615821, Orphanet:65282\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282\|MONDO:MONDO:0012323,MedGen:C186	6	7572026	7572026	NC_000006.11:g.7572026T>A	ClinGen:CA030803	CN169374 not specified;
NM_004415.4(DSP):c.1990C>T (p.Gln664Ter)	1832	DSP	Pathogenic	rs121912995	RCV000018336;	N	MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165	6	7572161	7572161	6:g.7572161C>T	ClinGen:CA005220,OMIM:125647.0007	C1843292 607655 Skin fragility woolly hair syndrome;
NM_004415.4(DSP):c.2071C>T (p.Leu691Phe)	1832	DSP	Conflicting interpretations of pathogenicity	rs1363445022	RCV000641817\|RCV000786306\|RCV001159761\|RCV001159762\|RCV001159763;	N	MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MedGen:CN517202\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:15868	6	7572242	7572242	NC_000006.11:g.7572242C>T	ClinGen:CA362680493	C1843896 607450 Arrhythmogenic right ventricular cardiomyopathy, type 8;
NM_004415.4(DSP):c.2091A>G (p.Gly697=)	1832	DSP	Benign	rs2076304	RCV000038004\|RCV000246677\|RCV000845410\|RCV001519751\|RCV001659962\|RCV001659960\|RCV001659963\|RCV001659961\|RCV001659964;	N	MedGen:CN169374\|MedGen:CN230736\|MedGen:CN517202\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0013034,MedGen:C18	6	7572262	7572262	NC_000006.11:g.7572262A>G	ClinGen:CA005242	CN169374 not specified;
NM_004415.4(DSP):c.2131-5G>C	1832	DSP	Conflicting interpretations of pathogenicity	rs767939332	RCV001161171\|RCV001161172\|RCV001161173\|RCV001187387\|RCV001479049;	N	MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orpha	6	7574314	7574314	6:g.7574314G>C	-
NM_004415.4(DSP):c.2246T>C (p.Leu749Pro)	1832	DSP	Uncertain significance	rs935504136	RCV001162730\|RCV001162728\|RCV001162729\|RCV001363725\|RCV002223269\|RCV002429784;	N	MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:00	6	7574434	7574434	6:g.7574434T>C	-
NM_004415.4(DSP):c.2247A>G (p.Leu749=)	1832	DSP	Conflicting interpretations of pathogenicity	rs28763963	RCV000278803\|RCV000294285\|RCV000374685\|RCV000542933\|RCV000771810\|RCV001555297\|RCV002429320;	N	MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:00	6	7574435	7574435	NC_000006.11:g.7574435A>G	ClinGen:CA032278
NM_004415.4(DSP):c.2259G>A (p.Leu753=)	1832	DSP	Uncertain significance	rs1759156637	RCV001162731\|RCV001162732\|RCV001164785;	N	MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687	6	7574447	7574447	6:g.7574447G>A	-
NM_004415.4(DSP):c.2346C>T (p.Asp782=)	1832	DSP	Conflicting interpretations of pathogenicity	rs139071827	RCV000038007\|RCV000234774\|RCV000244439\|RCV000314301\|RCV000349114\|RCV000402455\|RCV000776152\|RCV001084673;	N	MedGen:CN169374\|MedGen:CN517202\|MedGen:CN230736\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|Human Phenotype Ontology:HP:0	6	7574938	7574938	NC_000006.11:g.7574938C>T	ClinGen:CA005333
NM_004415.4(DSP):c.2360A>G (p.Tyr787Cys)	1832	DSP	Conflicting interpretations of pathogenicity	rs778350289	RCV000641805\|RCV001164787\|RCV001164786\|RCV001164788\|RCV001186671\|RCV002282281;	N	MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:00	6	7574952	7574952	6:g.7574952A>G	ClinGen:CA032952	C1843896 607450 Arrhythmogenic right ventricular cardiomyopathy, type 8;
NM_004415.4(DSP):c.2377G>A (p.Glu793Lys)	1832	DSP	Conflicting interpretations of pathogenicity	rs755067397	RCV000266242\|RCV000364453\|RCV000395566\|RCV000460397\|RCV001178102\|RCV002450930;	N	MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:00	6	7574969	7574969	NC_000006.11:g.7574969G>A	ClinGen:CA032987	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.2404G>A (p.Asp802Asn)	1832	DSP	Uncertain significance	rs770105310	RCV000267251\|RCV000302630\|RCV000317742\|RCV000361925\|RCV001188867\|RCV001850911\|RCV002229979;	N	MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:158668\|Human Phenot	6	7574996	7574996	NC_000006.11:g.7574996G>A	ClinGen:CA033109	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.2427T>A (p.Cys809Ter)	1832	DSP	Pathogenic	rs121912994	RCV000018334;	N	MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165	6	7575019	7575019	6:g.7575019T>A	ClinGen:CA005360,OMIM:125647.0005	C1843292 607655 Skin fragility woolly hair syndrome;
NM_004415.4(DSP):c.2582C>T (p.Thr861Ile)	1832	DSP	Uncertain significance	rs1759210367	RCV001159876\|RCV001159874\|RCV001159875\|RCV001178945;	N	MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orpha	6	7575673	7575673	6:g.7575673C>T	-
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys)	1832	DSP	Conflicting interpretations of pathogenicity	rs142429411	RCV000038010\|RCV000238965\|RCV000242786\|RCV000263694\|RCV000318707\|RCV000372307\|RCV000590388\|RCV000769221\|RCV001082571;	N	MedGen:CN169374\|MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247\|MedGen:CN230736\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604	6	7575687	7575687	6:g.7575687C>T	ClinGen:CA005421	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.2631G>A (p.Arg877=)	1832	DSP	Benign	rs1016835	RCV000038011\|RCV000250214\|RCV000292946\|RCV000352543\|RCV000388191\|RCV000775975\|RCV001519752\|RCV001610330\|RCV001659967\|RCV001659965\|RCV001659966;	N	MedGen:CN169374\|MedGen:CN230736\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|Human Phenotype Ontology:HP:0001638,MONDO:MON	6	7576527	7576527	NC_000006.11:g.7576527G>A	ClinGen:CA005450
NM_004415.4(DSP):c.2673T>C (p.Tyr891=)	1832	DSP	Benign/Likely benign	rs146407262	RCV000038012\|RCV000284266\|RCV000339335\|RCV000344374\|RCV000405620\|RCV000587575\|RCV000769223\|RCV001086676;	N	MedGen:CN169374\|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:158668\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:	6	7576569	7576569	NC_000006.11:g.7576569T>C	ClinGen:CA005484
NM_004415.4(DSP):c.2719C>T (p.Arg907Cys)	1832	DSP	Conflicting interpretations of pathogenicity	rs749051278	RCV000354548\|RCV000404899\|RCV000394733\|RCV000470197\|RCV000757185\|RCV001179332\|RCV002429321\|RCV002488792;	N	MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:00	6	7576615	7576615	NC_000006.11:g.7576615C>T	ClinGen:CA034721	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.2719C>A (p.Arg907Ser)	1832	DSP	Uncertain significance	rs749051278	RCV001161280\|RCV001161281\|RCV001162839;	N	MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687	6	7576615	7576615	6:g.7576615C>A	-
NM_004415.4(DSP):c.2723G>A (p.Arg908His)	1832	DSP	Conflicting interpretations of pathogenicity	rs142494121	RCV000154408\|RCV000172535\|RCV000275053\|RCV000300911\|RCV000330101\|RCV000619767\|RCV000771121\|RCV001083035;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MedGen:CN230736\|Human Phenotype Ontology:HP:0	6	7576619	7576619	NC_000006.11:g.7576619G>A	ClinGen:CA005516
NM_004415.4(DSP):c.2765C>T (p.Thr922Ile)	1832	DSP	Conflicting interpretations of pathogenicity	rs755099716	RCV000181305\|RCV001164897\|RCV001162840\|RCV001164896\|RCV001184499\|RCV002433787\|RCV002517770;	N	MedGen:CN517202\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGe	6	7576661	7576661	NC_000006.11:g.7576661C>T	ClinGen:CA005581
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp)	1832	DSP	Conflicting interpretations of pathogenicity	rs145933612	RCV000038015\|RCV000238651\|RCV000276162\|RCV000370699\|RCV000473091\|RCV000771365\|RCV001095285\|RCV001256834\|RCV001719746;	N	MedGen:CN169374\|MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:652	6	7576669	7576669	NC_000006.11:g.7576669C>T	ClinGen:CA005587
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln)	1832	DSP	Conflicting interpretations of pathogenicity	rs139799237	RCV000181307\|RCV000283495\|RCV000291383\|RCV000327634\|RCV000456401\|RCV000621213\|RCV000777766\|RCV000853132\|RCV001256832;	N	MedGen:CN169374\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450; MONDO:MONDO:0	6	7576670	7576670	NC_000006.11:g.7576670G>A	ClinGen:CA005594
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser)	1832	DSP	Benign/Likely benign	rs80325569	RCV000029679\|RCV000038019\|RCV000224281\|RCV000245074\|RCV000280065\|RCV000405945\|RCV000769224\|RCV001083761\|RCV001095176;	N	MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247\|MedGen:CN169374\|MedGen:CN517202\|MedGen:CN230736\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|Human Phenotype Ontology:HP:	6	7577213	7577213	NC_000006.11:g.7577213G>A	ClinGen:CA005623
NM_004415.4(DSP):c.2862C>T (p.Cys954=)	1832	DSP	Benign	rs2064217	RCV000038021\|RCV000368899\|RCV000397417\|RCV000402854\|RCV000619821\|RCV000775994\|RCV001510663\|RCV001642562;	N	MedGen:CN169374\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MedGen:CN230736\|Human Phenotype Ontology:HP:0001638,MONDO:MON	6	7577260	7577260	NC_000006.11:g.7577260C>T	ClinGen:CA005657
NM_004415.4(DSP):c.2878-4G>A	1832	DSP	Uncertain significance	rs758303966	RCV000270858\|RCV000315413\|RCV000370075;	N	MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450	6	7578008	7578008	NC_000006.11:g.7578008G>A	ClinGen:CA036027	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.2966C>T (p.Ser989Phe)	1832	DSP	Uncertain significance	rs746346559	RCV000704731\|RCV001161395\|RCV001161397\|RCV001181825\|RCV001161396\|RCV002440532\|RCV002485758;	N	MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450; MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|Human Phenotype Ontology:HP:00	6	7578100	7578100	NC_000006.11:g.7578100C>T	-	C1843896 607450 Arrhythmogenic right ventricular cardiomyopathy, type 8;
NM_004415.4(DSP):c.3084+28G>A	1832	DSP	Benign	rs2842691	RCV000254097\|RCV000830292\|RCV001660266\|RCV001660268\|RCV001660269\|RCV001660267\|RCV001660270;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0013034,MedGen:C1852127,OMIM:612908\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:6056	6	7578823	7578823	NC_000006.11:g.7578823G>A	ClinGen:CA036914	CN169374 not specified;
NM_004415.4(DSP):c.3146C>T (p.Ser1049Leu)	1832	DSP	Conflicting interpretations of pathogenicity	rs751361395	RCV000272182\|RCV000322535\|RCV000379457\|RCV000470079\|RCV000485378\|RCV001190426\|RCV002323559\|RCV002480238;	N	MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:00	6	7579569	7579569	NC_000006.11:g.7579569C>T	ClinGen:CA037298
NM_004415.4(DSP):c.3147G>A (p.Ser1049=)	1832	DSP	Conflicting interpretations of pathogenicity	rs756341143	RCV000287261\|RCV000316681\|RCV000373529\|RCV000867540\|RCV001187914\|RCV001529159\|RCV002323560;	N	MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:00	6	7579570	7579570	NC_000006.11:g.7579570G>A	ClinGen:CA037319	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.3303C>T (p.Tyr1101=)	1832	DSP	Conflicting interpretations of pathogenicity	rs372440854	RCV000216605\|RCV000241632\|RCV000338741\|RCV000294045\|RCV000351324\|RCV000587379\|RCV000776183\|RCV001079139;	N	MedGen:CN169374\|MedGen:CN230736\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MedGen:CN517202\|Human Phenotype Ontology:HP:0	6	7579726	7579726	NC_000006.11:g.7579726C>T	ClinGen:CA037736
NM_004415.4(DSP):c.3389A>G (p.Asp1130Gly)	1832	DSP	Uncertain significance	rs886061746	RCV000345587\|RCV000405001\|RCV000395512;	N	MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687	6	7579812	7579812	NC_000006.11:g.7579812A>G	ClinGen:CA10627594	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.3423A>C (p.Gln1141His)	1832	DSP	Uncertain significance	rs759288257	RCV001158313\|RCV001158311\|RCV001158312\|RCV001188751;	N	MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orpha	6	7579846	7579846	6:g.7579846A>C	-
NM_004415.4(DSP):c.3507C>T (p.Tyr1169=)	1832	DSP	Conflicting interpretations of pathogenicity	rs148894066	RCV000155792\|RCV000265470\|RCV000310488\|RCV000358299\|RCV000463442\|RCV000771827\|RCV001311706\|RCV002453517;	N	MedGen:CN169374\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:6528	6	7579930	7579930	NC_000006.11:g.7579930C>T	ClinGen:CA005818
NM_004415.4(DSP):c.3510G>A (p.Glu1170=)	1832	DSP	Benign/Likely benign	rs28763964	RCV000038028\|RCV000226191\|RCV000250046\|RCV000317241\|RCV000361361\|RCV000374207\|RCV000769227\|RCV001811268;	N	MedGen:CN169374\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MedGen:CN230736\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:29316	6	7579933	7579933	NC_000006.11:g.7579933G>A	ClinGen:CA005826
NM_004415.4(DSP):c.3601G>A (p.Glu1201Lys)	1832	DSP	Conflicting interpretations of pathogenicity	rs751566392	RCV000262787\|RCV000295038\|RCV000386997\|RCV002524504;	N	MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:00	6	7580024	7580024	NC_000006.11:g.7580024G>A	ClinGen:CA038480	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.3650C>T (p.Thr1217Met)	1832	DSP	Conflicting interpretations of pathogenicity	rs535202724	RCV000150568\|RCV000288923\|RCV000352140\|RCV000381164\|RCV000620762\|RCV000641836\|RCV000777712\|RCV001293159\|RCV001528379;	N	MedGen:CN169374\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MedGen:CN230736\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:6056	6	7580073	7580073	NC_000006.11:g.7580073C>T	ClinGen:CA004431
NM_004415.4(DSP):c.3770A>G (p.Asn1257Ser)	1832	DSP	Uncertain significance	rs1561697968	RCV000703536\|RCV001163042\|RCV001163043\|RCV001163044\|RCV001183567;	N	MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450; MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:00	6	7580193	7580193	NC_000006.11:g.7580193A>G	-	C1843896 607450 Arrhythmogenic right ventricular cardiomyopathy, type 8;
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln)	1832	DSP	Conflicting interpretations of pathogenicity	rs138907450	RCV000154713\|RCV000342008\|RCV000403440\|RCV000404310\|RCV000459782\|RCV000620854\|RCV000723628\|RCV000771831;	N	MedGen:CN169374\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:6528	6	7580285	7580285	NC_000006.11:g.7580285A>C	ClinGen:CA004279
NM_004415.4(DSP):c.3904C>T (p.Arg1302Cys)	1832	DSP	Conflicting interpretations of pathogenicity	rs775594375	RCV000852573\|RCV001052285\|RCV001165135\|RCV001165136\|RCV001165137\|RCV002352496\|RCV002478946;	N	Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450; MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655,Orphan	6	7580327	7580327	6:g.7580327C>T	-
NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln)	1832	DSP	Benign/Likely benign	rs184154918	RCV000154711\|RCV000262391\|RCV000297493\|RCV000301232\|RCV000354640\|RCV000586281\|RCV000619090\|RCV000771364\|RCV000852993\|RCV001085944;	N	MedGen:CN169374\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:158	6	7580346	7580346	6:g.7580346G>A	ClinGen:CA004286	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=)	1832	DSP	Conflicting interpretations of pathogenicity	rs148478829	RCV000038034\|RCV000253751\|RCV000269608\|RCV000291041\|RCV000327042\|RCV000463312\|RCV000771828\|RCV001086611;	N	MedGen:CN169374\|MedGen:CN230736\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MedGen:CN517202\|Human Phenotype Ontology:HP:0	6	7580488	7580488	NC_000006.11:g.7580488T>C	ClinGen:CA004359
NM_004415.4(DSP):c.4071G>C (p.Glu1357Asp)	1832	DSP	Uncertain significance	rs569786610	RCV000286226\|RCV000343529\|RCV000377193\|RCV001187919\|RCV001850912\|RCV002480239;	N	MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orpha	6	7580494	7580494	NC_000006.11:g.7580494G>C	ClinGen:CA040075	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.4141A>T (p.Thr1381Ser)	1832	DSP	Benign/Likely benign	rs77758574	RCV000038035\|RCV000224825\|RCV000239236\|RCV000337518\|RCV000402762\|RCV000771263\|RCV001079170\|RCV001095208;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|Human Phenotype Ontology:HP:0001638,MONDO:MO	6	7580564	7580564	NC_000006.11:g.7580564A>T	ClinGen:CA004379
NM_004415.4(DSP):c.4373G>A (p.Arg1458Gln)	1832	DSP	Conflicting interpretations of pathogenicity	rs370063434	RCV000270456\|RCV000366411\|RCV000362744\|RCV000559827\|RCV001188675\|RCV002328873;	N	MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:00	6	7580796	7580796	NC_000006.11:g.7580796G>A	ClinGen:CA041197	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.4383G>A (p.Glu1461=)	1832	DSP	Benign/Likely benign	rs140029036	RCV000038042\|RCV000229433\|RCV000264780\|RCV000278376\|RCV000322203\|RCV000620886\|RCV000776085\|RCV001082232;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MedGen:CN230736\|Human Phenotype Ontology:HP:0	6	7580806	7580806	NC_000006.11:g.7580806G>A	ClinGen:CA004457
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser)	1832	DSP	Benign/Likely benign	rs113902911	RCV000038043\|RCV000202684\|RCV000348311\|RCV000374137\|RCV000617274\|RCV000770244\|RCV000845305\|RCV000852994\|RCV001084120\|RCV001095244;	N	MedGen:CN169374\|MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MedGen:CN230736\|Human Phenotype Ontology:HP:0001638,MONDO:MO	6	7580878	7580878	NC_000006.11:g.7580878G>T	ClinGen:CA004483
NM_004415.4(DSP):c.4478A>C (p.Glu1493Ala)	1832	DSP	Conflicting interpretations of pathogenicity	rs760433367	RCV000215393\|RCV000294546\|RCV000352223\|RCV000407699\|RCV001183806\|RCV001853449;	N	MedGen:CN169374\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGe	6	7580901	7580901	6:g.7580901A>C	ClinGen:CA041687	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys)	1832	DSP	Benign	rs2076299	RCV000038050\|RCV000247265\|RCV000301876\|RCV000307957\|RCV000390835\|RCV000771058\|RCV000845299\|RCV001521512;	N	MedGen:CN169374\|MedGen:CN230736\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|Human Phenotype Ontology:HP:0001638,MONDO:MON	6	7580958	7580958	NC_000006.11:g.7580958A>G	ClinGen:CA004536,UniProtKB:P15924#VAR_020468
NM_004415.4(DSP):c.4578C>A (p.Asn1526Lys)	1832	DSP	Benign	rs28763966	RCV000038054\|RCV000246748\|RCV000266738\|RCV000305773\|RCV000359064\|RCV000473526\|RCV000776075\|RCV001719747;	N	MedGen:CN169374\|MedGen:CN230736\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:6056	6	7581001	7581001	NC_000006.11:g.7581001C>A	ClinGen:CA004555,UniProtKB:P15924#VAR_065695
NM_004415.4(DSP):c.4588G>T (p.Val1530Phe)	1832	DSP	Benign/Likely benign	rs141227126	RCV000124828\|RCV000180988\|RCV000260972\|RCV000274065\|RCV000318522\|RCV000619367\|RCV000771265\|RCV001082561;	N	MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MedGen:CN230736\|Human Phenotype Ontology:HP:0	6	7581011	7581011	NC_000006.11:g.7581011G>T	ClinGen:CA004128
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys)	1832	DSP	Benign/Likely benign	rs28763967	RCV000038052\|RCV000296538\|RCV000331603\|RCV000388441\|RCV000434359\|RCV000584761\|RCV000621921\|RCV000776035\|RCV000852996\|RCV001080033\|RCV002490517;	N	MedGen:CN169374\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MedGen:CN517202\|MedGen:C0520806; MONDO:MONDO:0016587,MedGen:C0	6	7581032	7581032	6:g.7581032C>T	ClinGen:CA004132,UniProtKB:P15924#VAR_065696	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.4671G>A (p.Thr1557=)	1832	DSP	Conflicting interpretations of pathogenicity	rs367767551	RCV000871584\|RCV001158527\|RCV001158528\|RCV001161732\|RCV001191752\|RCV002336829;	N	MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450; MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C18	6	7581094	7581094	6:g.7581094G>A	-
NM_004415.4(DSP):c.4679A>G (p.Gln1560Arg)	1832	DSP	Uncertain significance	rs796530013	RCV000293460\|RCV000348340\|RCV000382801\|RCV001057251\|RCV001187920\|RCV002338950\|RCV001699393\|RCV002480240;	N	MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:00	6	7581102	7581102	NC_000006.11:g.7581102A>G	ClinGen:CA10627563	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu)	1832	DSP	Conflicting interpretations of pathogenicity	rs186842903	RCV000172539\|RCV000223681\|RCV000304932\|RCV000335501\|RCV000405660\|RCV000617663\|RCV000777774\|RCV001082657;	N	MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MedGen:CN230736\|Human Phenotype Ontology:HP:0	6	7581164	7581164	NC_000006.11:g.7581164A>G	ClinGen:CA004153
NM_004415.4(DSP):c.4752G>A (p.Ala1584=)	1832	DSP	Likely benign	rs201213622	RCV000244426\|RCV000265072\|RCV000310635\|RCV000359779\|RCV000365341\|RCV000608702\|RCV000777727\|RCV001435327;	N	MedGen:CN230736\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:158668\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:	6	7581175	7581175	NC_000006.11:g.7581175G>A	ClinGen:CA042755
NM_004415.4(DSP):c.4857G>C (p.Leu1619=)	1832	DSP	Conflicting interpretations of pathogenicity	rs373385083	RCV000282377\|RCV000331338\|RCV000337340\|RCV000385908\|RCV001178093;	N	MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:158668\|Human Phenot	6	7581280	7581280	NC_000006.11:g.7581280G>C	ClinGen:CA10624633	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.4886G>T (p.Ser1629Ile)	1832	DSP	Conflicting interpretations of pathogenicity	rs200243976	RCV000157200\|RCV000373402\|RCV000391545\|RCV000435354\|RCV000547728\|RCV000619025\|RCV000777787\|RCV001095250;	N	MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MedGen:CN517202\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:652	6	7581309	7581309	NC_000006.11:g.7581309G>T	ClinGen:CA004187
NM_004415.4(DSP):c.5062G>A (p.Ala1688Thr)	1832	DSP	Conflicting interpretations of pathogenicity	rs757753880	RCV000520322\|RCV000796190\|RCV001163264\|RCV001163265\|RCV001163266\|RCV001198030\|RCV001189164\|RCV002341225;	N	MedGen:CN517202\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:29316	6	7581485	7581485	NC_000006.11:g.7581485G>A	ClinGen:CA043810
NM_004415.4(DSP):c.5064G>A (p.Ala1688=)	1832	DSP	Conflicting interpretations of pathogenicity	rs886061747	RCV000308692\|RCV000302895\|RCV000403958\|RCV000872675\|RCV001187917\|RCV001406840;	N	MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGe	6	7581487	7581487	NC_000006.11:g.7581487G>A	ClinGen:CA10627595	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys)	1832	DSP	Conflicting interpretations of pathogenicity	rs147415451	RCV000154715\|RCV000172542\|RCV000363258\|RCV000369571\|RCV000405736\|RCV000618693\|RCV000769231\|RCV000853150\|RCV001084754;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MedGen:CN230736\|Human Phenotype Ontology:HP:0	6	7581601	7581601	NC_000006.11:g.7581601C>A	ClinGen:CA004621
NM_004415.4(DSP):c.5186T>G (p.Leu1729Arg)	1832	DSP	Uncertain significance	rs377344768	RCV000777604\|RCV001158638\|RCV001158639\|RCV001158640\|RCV001585705;	N	Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655,Orpha	6	7581609	7581609	NC_000006.11:g.7581609T>G	-
NM_004415.4(DSP):c.5213G>A (p.Arg1738Gln)	1832	DSP	Benign	rs6929069	RCV000038061\|RCV000275007\|RCV000330163\|RCV000356673\|RCV000430654\|RCV000620084\|RCV000771053\|RCV001510664;	N	MedGen:CN169374\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MedGen:CN517202\|MedGen:CN230736\|Human Phenotype Ontology:HP:0	6	7581636	7581636	NC_000006.11:g.7581636G>A	ClinGen:CA004594,UniProtKB:P15924#VAR_023815
NM_004415.4(DSP):c.5217C>T (p.Ser1739=)	1832	DSP	Conflicting interpretations of pathogenicity	rs748263306	RCV000285785\|RCV000322110\|RCV000371866\|RCV000872548\|RCV001188877\|RCV001406357\|RCV002348108;	N	MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGe	6	7581640	7581640	NC_000006.11:g.7581640C>T	ClinGen:CA044245	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.5283C>T (p.Asn1761=)	1832	DSP	Conflicting interpretations of pathogenicity	rs763355815	RCV000288262\|RCV000312304\|RCV000352546\|RCV000406655\|RCV000777687\|RCV000870386\|RCV001443004\|RCV002348109;	N	MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247\|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:158668\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|Human Phenot	6	7581706	7581706	NC_000006.11:g.7581706C>T	ClinGen:CA044490
NM_004415.4(DSP):c.5304G>C (p.Gly1768=)	1832	DSP	Benign/Likely benign	rs530612211	RCV000156212\|RCV000299267\|RCV000366942\|RCV000354193\|RCV000390842\|RCV000477526\|RCV000771366\|RCV001704133\|RCV002345514;	N	MedGen:CN169374\|MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247\|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:158668\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293	6	7581727	7581727	NC_000006.11:g.7581727G>C	ClinGen:CA004582
NM_004415.4(DSP):c.5316T>C (p.Asp1772=)	1832	DSP	Conflicting interpretations of pathogenicity	rs376186141	RCV000259311\|RCV000323845\|RCV000360904\|RCV000418655\|RCV000536757\|RCV001187310\|RCV001092981\|RCV002348110;	N	MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MedGen:CN169374\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:6528	6	7581739	7581739	NC_000006.11:g.7581739T>C	ClinGen:CA044635	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.5391G>A (p.Arg1797=)	1832	DSP	Conflicting interpretations of pathogenicity	rs778745098	RCV001163383\|RCV001163382\|RCV001163384\|RCV001526133\|RCV001491324\|RCV002348585;	N	MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orpha	6	7582886	7582886	6:g.7582886G>A	-
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val)	1832	DSP	Benign/Likely benign	rs78652302	RCV000038065\|RCV000238901\|RCV000290923\|RCV000385269\|RCV000588812\|RCV000621155\|RCV000769233\|RCV000852997\|RCV001082506\|RCV001095253\|RCV002496607;	N	MedGen:CN169374\|MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MedGen:CN517202\|MedGen:CN230736\|Human Phenotype Ontology:HP:	6	7582993	7582993	6:g.7582993A>T	ClinGen:CA006474,UniProtKB:P15924#VAR_065697	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.5523A>C (p.Ser1841=)	1832	DSP	Conflicting interpretations of pathogenicity	rs730882116	RCV000154714\|RCV000298785\|RCV000338424\|RCV000391258\|RCV000554991\|RCV000771830\|RCV001701692\|RCV002345499;	N	MedGen:CN169374\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:6528	6	7583018	7583018	NC_000006.11:g.7583018A>C	ClinGen:CA006496
NM_004415.4(DSP):c.5544G>A (p.Arg1848=)	1832	DSP	Conflicting interpretations of pathogenicity	rs727503004	RCV000150575\|RCV000302959\|RCV000357734\|RCV000406140\|RCV001189906\|RCV001488164;	N	MedGen:CN169374\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGe	6	7583039	7583039	6:g.7583039G>A	ClinGen:CA006508	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.5593A>T (p.Asn1865Tyr)	1832	DSP	Conflicting interpretations of pathogenicity	rs562015789	RCV000268654\|RCV000272334\|RCV000308765\|RCV000481903\|RCV000771806\|RCV001084945\|RCV002348111;	N	MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGe	6	7583088	7583088	NC_000006.11:g.7583088A>T	ClinGen:CA045279	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.5649G>A (p.Ser1883=)	1832	DSP	Conflicting interpretations of pathogenicity	rs760974941	RCV000641853\|RCV001158746\|RCV001158745\|RCV001158747\|RCV001180340\|RCV002343280;	N	MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:00	6	7583144	7583144	6:g.7583144G>A	ClinGen:CA045415	C1843896 607450 Arrhythmogenic right ventricular cardiomyopathy, type 8;
NM_004415.4(DSP):c.5820T>C (p.Asp1940=)	1832	DSP	Conflicting interpretations of pathogenicity	rs763026647	RCV000280697\|RCV000371937\|RCV000375397\|RCV002058631;	N	MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:00	6	7583315	7583315	NC_000006.11:g.7583315T>C	ClinGen:CA3628100	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.5827A>G (p.Arg1943Gly)	1832	DSP	Uncertain significance	rs140663822	RCV000181334\|RCV000286712\|RCV000341732\|RCV000391599\|RCV001525481\|RCV001852270\|RCV002354469;	N	MedGen:CN517202\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGe	6	7583322	7583322	NC_000006.11:g.7583322A>G	ClinGen:CA006637
NM_004415.4(DSP):c.6038G>A (p.Arg2013Gln)	1832	DSP	Conflicting interpretations of pathogenicity	rs557263443	RCV000308156\|RCV000362870\|RCV000404049\|RCV000777689\|RCV000463580\|RCV002356488;	N	MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orpha	6	7583533	7583533	NC_000006.11:g.7583533G>A	ClinGen:CA046661
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn)	1832	DSP	Conflicting interpretations of pathogenicity	rs41302885	RCV000038072\|RCV000172544\|RCV000244881\|RCV000274742\|RCV000367032\|RCV000415621\|RCV000776062\|RCV001085925\|RCV001293067;	N	MedGen:CN169374\|MedGen:CN517202\|MedGen:CN230736\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|Human Phenotype Ontology:HP:0	6	7583703	7583703	6:g.7583703G>A	ClinGen:CA006778	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.6358A>G (p.Thr2120Ala)	1832	DSP	Uncertain significance	rs1759528776	RCV001163482\|RCV001163773\|RCV001163774;	N	MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450	6	7583853	7583853	6:g.7583853A>G	-
NM_004415.4(DSP):c.6390T>C (p.Ala2130=)	1832	DSP	Benign/Likely benign	rs28763969	RCV000038074\|RCV000341093\|RCV000378485\|RCV000384052\|RCV000477319\|RCV000617306\|RCV000776028\|RCV001082896;	N	MedGen:CN169374\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MedGen:CN517202\|MedGen:CN230736\|Human Phenotype Ontology:HP:0	6	7583885	7583885	NC_000006.11:g.7583885T>C	ClinGen:CA006901
NM_004415.4(DSP):c.6479G>A (p.Arg2160Gln)	1832	DSP	Conflicting interpretations of pathogenicity	rs146642551	RCV000181343\|RCV000295633\|RCV000344461\|RCV000406693\|RCV000800064\|RCV001181803\|RCV002354473\|RCV002478608;	N	MedGen:CN517202\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:6528	6	7583974	7583974	NC_000006.11:g.7583974G>A	ClinGen:CA006950
NM_004415.4(DSP):c.6678T>A (p.Gly2226=)	1832	DSP	Conflicting interpretations of pathogenicity	rs149070106	RCV000038077\|RCV000312693\|RCV000355781\|RCV000352732\|RCV000590624\|RCV000619860\|RCV000776149\|RCV001082443;	N	MedGen:CN169374\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MedGen:CN517202\|MedGen:CN230736\|Human Phenotype Ontology:HP:0	6	7584173	7584173	NC_000006.11:g.7584173T>A	ClinGen:CA007013
NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser)	1832	DSP	Benign/Likely benign	rs181378432	RCV000168654\|RCV000828348\|RCV001087835\|RCV001158863\|RCV001158865\|RCV001158864\|RCV001187315\|RCV002362863\|RCV002492684;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:29316	6	7584294	7584294	NC_000006.11:g.7584294A>T	ClinGen:CA007022	C1843896 607450 Arrhythmogenic right ventricular cardiomyopathy, type 8;
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly)	1832	DSP	Conflicting interpretations of pathogenicity	rs147000526	RCV000038079\|RCV000148480\|RCV000171919\|RCV000267252\|RCV000297547\|RCV000621753\|RCV000769239\|RCV001079594\|RCV001095181;	N	MedGen:CN169374\|MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247\|MedGen:CN517202\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MedGen:CN230736\|Human Phenotype Ontology:HP:	6	7584376	7584376	6:g.7584376C>G	ClinGen:CA004685	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.6935T>C (p.Val2312Ala)	1832	DSP	Conflicting interpretations of pathogenicity	rs886061748	RCV000265357\|RCV000327523\|RCV000358408\|RCV001304434;	N	MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:00	6	7584430	7584430	NC_000006.11:g.7584430T>C	ClinGen:CA10627574	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.6968T>C (p.Ile2323Thr)	1832	DSP	Conflicting interpretations of pathogenicity	rs777901747	RCV000287663\|RCV000384308\|RCV000387631\|RCV002524505;	N	MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:00	6	7584463	7584463	NC_000006.11:g.7584463T>C	ClinGen:CA10627604	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.7096C>T (p.Arg2366Cys)	1832	DSP	Conflicting interpretations of pathogenicity	rs28931610	RCV000018335\|RCV000610244\|RCV001851908;	N	MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MedGen:CN169374\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450; MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282	6	7584591	7584591	6:g.7584591C>T	ClinGen:CA007112,UniProtKB:P15924#VAR_015570,OMIM:125647.0006	CN169374 not specified;
NM_004415.4(DSP):c.7097G>A (p.Arg2366His)	1832	DSP	Pathogenic	rs387906618	RCV000022523\|RCV001851996;	N	MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450; MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282	6	7584592	7584592	6:g.7584592G>A	ClinGen:CA007120,OMIM:125647.0013	C1843292 607655 Skin fragility woolly hair syndrome;
NM_004415.4(DSP):c.7122C>T (p.Thr2374=)	1832	DSP	Benign	rs2076300	RCV000038083\|RCV000280755\|RCV000295739\|RCV000391444\|RCV000621629\|RCV000771045\|RCV000845411\|RCV001520270\|RCV001659970\|RCV001659969\|RCV001659968;	N	MedGen:CN169374\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MedGen:CN230736\|Human Phenotype Ontology:HP:0001638,MONDO:MON	6	7584617	7584617	NC_000006.11:g.7584617C>T	ClinGen:CA007128
NM_004415.4(DSP):c.7125G>A (p.Gly2375=)	1832	DSP	Conflicting interpretations of pathogenicity	rs141709096	RCV000168655\|RCV000298541\|RCV000338092\|RCV000360346\|RCV000468695\|RCV000617624\|RCV000777713\|RCV001721093;	N	MedGen:CN169374\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:6528	6	7584620	7584620	NC_000006.11:g.7584620G>A	ClinGen:CA007142
NM_004415.4(DSP):c.7278T>C (p.Tyr2426=)	1832	DSP	Benign/Likely benign	rs78843072	RCV000038086\|RCV000272798\|RCV000302052\|RCV000406305\|RCV000619300\|RCV000641828\|RCV000769241\|RCV001312046;	N	MedGen:CN169374\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MedGen:CN230736\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:6056	6	7584773	7584773	NC_000006.11:g.7584773T>C	ClinGen:CA007181
NM_004415.4(DSP):c.7548G>A (p.Arg2516=)	1832	DSP	Benign/Likely benign	rs756527780	RCV000276100\|RCV000325577\|RCV000333470\|RCV000363965\|RCV000429989\|RCV000471148\|RCV000777765\|RCV001712091\|RCV002392918;	N	MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:158668\|MedGen:CN169	6	7585043	7585043	NC_000006.11:g.7585043G>A	ClinGen:CA050054
NM_004415.4(DSP):c.7551G>A (p.Val2517=)	1832	DSP	Conflicting interpretations of pathogenicity	rs754127386	RCV001163892\|RCV001163891\|RCV001163893\|RCV001192218\|RCV001494003\|RCV002393375;	N	MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orpha	6	7585046	7585046	6:g.7585046G>A	-
NM_004415.4(DSP):c.7557G>A (p.Leu2519=)	1832	DSP	Conflicting interpretations of pathogenicity	rs397516957	RCV000038089\|RCV000293672\|RCV000318144\|RCV000385620\|RCV000555571\|RCV000777800\|RCV001711148\|RCV002390154;	N	MedGen:CN169374\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:6528	6	7585052	7585052	NC_000006.11:g.7585052G>A	ClinGen:CA007225
NM_004415.4(DSP):c.7622G>A (p.Arg2541Lys)	1832	DSP	Conflicting interpretations of pathogenicity	rs142078450	RCV000218025\|RCV000278298\|RCV000335658\|RCV000378413\|RCV000814505\|RCV001177077\|RCV001557999\|RCV002390579;	N	MedGen:CN169374\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:6528	6	7585117	7585117	NC_000006.11:g.7585117G>A	ClinGen:CA050314	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.7734C>T (p.Ser2578=)	1832	DSP	Benign/Likely benign	rs28763970	RCV000124830\|RCV000309573\|RCV000339026\|RCV000348027\|RCV000391733\|RCV000587701\|RCV000620556\|RCV000769242\|RCV001086040;	N	MedGen:CN169374\|MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247\|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:158668\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293	6	7585229	7585229	NC_000006.11:g.7585229C>T	ClinGen:CA007258
NM_004415.4(DSP):c.7767A>G (p.Ser2589=)	1832	DSP	Conflicting interpretations of pathogenicity	rs755928079	RCV001158961\|RCV001158962\|RCV001158960\|RCV002411655\|RCV002558402;	N	MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MedGen:CN230736\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:6528	6	7585262	7585262	6:g.7585262A>G	-
NM_004415.4(DSP):c.7817G>A (p.Ser2606Asn)	1832	DSP	Conflicting interpretations of pathogenicity	rs199597935	RCV000171921\|RCV001158963\|RCV001158965\|RCV001158964\|RCV001184995\|RCV001371106;	N	MedGen:CN517202\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGe	6	7585312	7585312	NC_000006.11:g.7585312G>A	ClinGen:CA007281
NM_004415.4(DSP):c.7883T>C (p.Leu2628Pro)	1832	DSP	Conflicting interpretations of pathogenicity	rs147484870	RCV000277919\|RCV000370195\|RCV000402482\|RCV000521787\|RCV000777728\|RCV001403630\|RCV002411250;	N	MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MedGen:CN517202\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGe	6	7585378	7585378	NC_000006.11:g.7585378T>C	ClinGen:CA051060
NM_004415.4(DSP):c.7995G>A (p.Thr2665=)	1832	DSP	Benign/Likely benign	rs35379048	RCV000038093\|RCV000228459\|RCV000261398\|RCV000372090\|RCV000380446\|RCV000771262;	N	MedGen:CN169374\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450; MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:15868	6	7585490	7585490	NC_000006.11:g.7585490G>A	ClinGen:CA007343
NM_004415.4(DSP):c.8019C>T (p.Asp2673=)	1832	DSP	Conflicting interpretations of pathogenicity	rs144275591	RCV000235966\|RCV000248548\|RCV000283622\|RCV000287598\|RCV000384363\|RCV000424182\|RCV000777797;	N	MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MedGen:CN230736\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:15868	6	7585514	7585514	NC_000006.11:g.7585514C>T	ClinGen:CA051387
NM_004415.4(DSP):c.8175C>A (p.Arg2725=)	1832	DSP	Benign	rs11558731	RCV000038097\|RCV000246551\|RCV000314429\|RCV000345016\|RCV000407224\|RCV000469955\|RCV000776009\|RCV001711124;	N	MedGen:CN169374\|MedGen:CN230736\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:6056	6	7585670	7585670	NC_000006.11:g.7585670C>A	ClinGen:CA007412
NM_004415.4(DSP):c.8191T>C (p.Tyr2731His)	1832	DSP	Conflicting interpretations of pathogenicity	rs201397978	RCV000150582\|RCV000172545\|RCV000299334\|RCV000356762\|RCV000407212\|RCV000771201\|RCV001088175\|RCV002426712;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|Human Phenotype Ontology:HP:0001638,MONDO:MON	6	7585686	7585686	NC_000006.11:g.7585686T>C	ClinGen:CA007423
NM_004415.4(DSP):c.8199G>A (p.Thr2733=)	1832	DSP	Conflicting interpretations of pathogenicity	rs145085696	RCV001163976\|RCV001163978\|RCV001163977\|RCV002558583;	N	MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:00	6	7585694	7585694	6:g.7585694G>A	-
NM_004415.4(DSP):c.8217G>A (p.Pro2739=)	1832	DSP	Conflicting interpretations of pathogenicity	rs755508926	RCV000298299\|RCV000320713\|RCV000360130\|RCV002411251\|RCV001805027\|RCV002523575;	N	MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MedGen:CN230736\|Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGe	6	7585712	7585712	NC_000006.11:g.7585712G>A	ClinGen:CA051809	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.8278G>A (p.Ala2760Thr)	1832	DSP	Conflicting interpretations of pathogenicity	rs991726607	RCV000769244\|RCV001055338\|RCV001159055\|RCV001163979\|RCV001163980;	N	Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655,Orphan	6	7585773	7585773	NC_000006.11:g.7585773G>A	-
NM_004415.4(DSP):c.8300C>T (p.Thr2767Ile)	1832	DSP	Conflicting interpretations of pathogenicity	rs34884895	RCV000774054\|RCV001053186\|RCV001159056\|RCV001159057\|RCV001159058\|RCV002424766;	N	Human Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655,Orphan	6	7585795	7585795	NC_000006.11:g.7585795C>T	-
NM_004415.4(DSP):c.8374T>A (p.Ser2792Thr)	1832	DSP	Conflicting interpretations of pathogenicity	rs727504570	RCV000155738\|RCV001159059\|RCV001160404\|RCV001160405\|RCV001319008\|RCV002433682;	N	MedGen:CN169374\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:6528	6	7585869	7585869	6:g.7585869T>A	ClinGen:CA007514	CN169374 not specified;
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu)	1832	DSP	Conflicting interpretations of pathogenicity	rs138329459	RCV000038105\|RCV000172546\|RCV000203133\|RCV000337923\|RCV000392037\|RCV000620878\|RCV000777790\|RCV001085488\|RCV001095186;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MedGen:CN230736\|Human Phenotype Ontology:HP:	6	7585950	7585950	NC_000006.11:g.7585950A>C	ClinGen:CA007553
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala)	1832	DSP	Conflicting interpretations of pathogenicity	rs142717240	RCV000038106\|RCV000302977\|RCV000357526\|RCV000405429\|RCV000477077\|RCV000587297\|RCV000619198\|RCV000771367;	N	MedGen:CN169374\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:6528	6	7585962	7585962	NC_000006.11:g.7585962C>G	ClinGen:CA007575
NM_004415.4(DSP):c.8472G>C (p.Gly2824=)	1832	DSP	Benign	rs2744380	RCV000038104\|RCV000241982\|RCV000328251\|RCV000363396\|RCV000577996\|RCV000578053\|RCV000577940\|RCV000775978\|RCV001520271\|RCV001659971\|RCV001711149;	N	MedGen:CN169374\|MedGen:CN230736\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0014355,MedGen:C4014393,OMIM:6158	6	7585967	7585967	NC_000006.11:g.7585967G>C	ClinGen:CA007601
NM_004415.4(DSP):c.8481C>T (p.Ser2827=)	1832	DSP	Benign/Likely benign	rs151029175	RCV000038108\|RCV000228915\|RCV000274286\|RCV000368820\|RCV000388663\|RCV000770251;	N	MedGen:CN169374\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450; MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:00	6	7585976	7585976	NC_000006.11:g.7585976C>T	ClinGen:CA007634
NM_004415.4(DSP):c.8507G>A (p.Gly2836Glu)	1832	DSP	Conflicting interpretations of pathogenicity	rs764232504	RCV000280318\|RCV000281481\|RCV000375466\|RCV002524506;	N	MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450; MONDO:MONDO:0011581,MedGen:C1	6	7586002	7586002	6:g.7586002G>A	ClinGen:CA052621	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.8529T>C (p.Ser2843=)	1832	DSP	Conflicting interpretations of pathogenicity	rs780005300	RCV001159157\|RCV001159156\|RCV001164065\|RCV002411656\|RCV002558405;	N	MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MedGen:CN230736\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:6528	6	7586024	7586024	6:g.7586024T>C	-
NM_004415.4(DSP):c.8605A>G (p.Ile2869Val)	1832	DSP	Benign/Likely benign	rs28763971	RCV000172750\|RCV000202956\|RCV000247844\|RCV000342233\|RCV000400542\|RCV000770253\|RCV000853001\|RCV001080914\|RCV001095160\|RCV001812025\|RCV002492463;	N	MedGen:CN169374\|MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247\|MedGen:CN230736\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|Human Phenotype Ontology:HP:0001638,MONDO:MO	6	7586100	7586100	6:g.7586100A>G	ClinGen:CA007748	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.*9T>A	1832	DSP	Benign/Likely benign	rs11558732	RCV000037981\|RCV000202662\|RCV000233409\|RCV000307204\|RCV000393763\|RCV000438294\|RCV000770254\|RCV000987655\|RCV001095161;	N	MedGen:CN169374\|MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247\|MONDO:MONDO:0011581,MedGen:C1854063,OMIM:605676, Orphanet:65282; MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0	6	7586120	7586120	NC_000006.11:g.7586120T>A	ClinGen:CA007916
NM_004415.4(DSP):c.*39T>C	1832	DSP	Benign	rs145079869	RCV000277138\|RCV000332136\|RCV000367013\|RCV001712344;	N	MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MedGen:CN517202	6	7586150	7586150	6:g.7586150T>C	ClinGen:CA039761	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.*43T>A	1832	DSP	Uncertain significance	rs373414877	RCV001160513\|RCV001160515\|RCV001160514;	N	MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687	6	7586154	7586154	6:g.7586154T>A	-
NM_004415.4(DSP):c.*47T>C	1832	DSP	Likely benign	rs376397291	RCV000259383\|RCV000319460\|RCV000374149;	N	MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165	6	7586158	7586158	6:g.7586158T>C	ClinGen:CA042948	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.*58T>C	1832	DSP	Uncertain significance	rs753281894	RCV001162145\|RCV001162143\|RCV001162144;	N	MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687	6	7586169	7586169	6:g.7586169T>C	-
NM_004415.4(DSP):c.*62A>T	1832	DSP	Uncertain significance	rs182788116	RCV000265545\|RCV000285602\|RCV000320637;	N	MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450	6	7586173	7586173	6:g.7586173A>T	ClinGen:CA10627605	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.*112A>G	1832	DSP	Uncertain significance	rs141059005	RCV000290345\|RCV000345255\|RCV000349934;	N	MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450	6	7586223	7586223	6:g.7586223A>G	ClinGen:CA10627576	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.*137T>C	1832	DSP	Uncertain significance	rs756543548	RCV000314905\|RCV000407046\|RCV000407048;	N	MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450	6	7586248	7586248	6:g.7586248T>C	ClinGen:CA10624635	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.*197C>T	1832	DSP	Benign	rs12250	RCV000297258\|RCV000302899\|RCV000356719\|RCV001618650;	N	MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MedGen:CN517202	6	7586308	7586308	6:g.7586308C>T	ClinGen:CA10624636	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.*203A>G	1832	DSP	Uncertain significance	rs1198624922	RCV001159258\|RCV001159259\|RCV001159260;	N	MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687	6	7586314	7586314	6:g.7586314A>G	-
NM_004415.4(DSP):c.276_278del	1832	DSP	Likely benign	rs144440643	RCV000322855\|RCV000357733\|RCV000382079\|RCV001546233;	N	MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247\|MedGen:CN517202	6	7586387	7586389	6:g.7586387_7586389del	ClinGen:CA10627577	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.*289C>T	1832	DSP	Uncertain significance	rs886061749	RCV000268799\|RCV000294200\|RCV000328590;	N	MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687	6	7586400	7586400	6:g.7586400C>T	ClinGen:CA10624637	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.*300C>A	1832	DSP	Uncertain significance	rs886061750	RCV000295554\|RCV000336516\|RCV000349226\|RCV000389757;	N	MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247\|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:158668	6	7586411	7586411	6:g.7586411C>A	ClinGen:CA10627606	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.*305C>A	1832	DSP	Uncertain significance	rs886061751	RCV000300973\|RCV000337746\|RCV000391883\|RCV000402088;	N	MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247\|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:158668	6	7586416	7586416	6:g.7586416C>A	ClinGen:CA10627607	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.*325A>G	1832	DSP	Uncertain significance	rs1759669252	RCV001159262\|RCV001159261\|RCV001160618;	N	MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165	6	7586436	7586436	6:g.7586436A>G	-
NM_004415.4(DSP):c.*358A>T	1832	DSP	Uncertain significance	rs886061752	RCV000267213\|RCV000308300\|RCV000361994;	N	MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450	6	7586469	7586469	6:g.7586469A>T	ClinGen:CA10624638	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.*384C>A	1832	DSP	Uncertain significance	rs886061753	RCV000273178\|RCV000330904\|RCV000363096\|RCV000366933;	N	MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:158668\|MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687	6	7586495	7586495	6:g.7586495C>A	ClinGen:CA10622706	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.*386G>T	1832	DSP	Uncertain significance	rs886061754	RCV000276895\|RCV000278317\|RCV000331947\|RCV000372831;	N	MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:158668\|MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247	6	7586497	7586497	6:g.7586497G>T	ClinGen:CA10622707	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.*577G>A	1832	DSP	Uncertain significance	rs886061755	RCV000284241\|RCV000319233\|RCV000373935;	N	MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450	6	7586688	7586688	6:g.7586688G>A	ClinGen:CA10627578	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.*598G>T	1832	DSP	Uncertain significance	rs886061756	RCV000285516\|RCV000345181\|RCV000393688\|RCV000398529;	N	MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247\|MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:158668	6	7586709	7586709	6:g.7586709G>T	ClinGen:CA10627608	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.*681C>A	1832	DSP	Uncertain significance	rs886061757	RCV000309195\|RCV000312626\|RCV000366167\|RCV000392305;	N	MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536, Orphanet:158668\|MONDO:MONDO:0016587,MedGen:C0349788, Orphanet:247\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165	6	7586792	7586792	NC_000006.11:g.7586792C>A	ClinGen:CA10624640	C0349788 Arrhythmogenic right ventricular cardiomyopathy;
NM_004415.4(DSP):c.*762G>T	1832	DSP	Uncertain significance	rs1759684939	RCV001160619\|RCV001162240\|RCV001162239;	N	MONDO:MONDO:0011882,MedGen:C1843292,OMIM:607655, Orphanet:293165\|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638, Orphanet:158687\|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450	6	7586873	7586873	6:g.7586873G>T	-

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