MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Cutis Laxa (D003483)
..Starting node ..Cutis Laxa, Autosomal Dominant (C562627)
Child Nodes:
Sister Nodes:
..Cutis Laxa With Severe Pulmonary, Gastrointestinal, And Urinary Abnormalities (C567716)
..Cutis Laxa, Autosomal Dominant (C562627)
..Cutis Laxa, Autosomal Recessive, Type I (C562628)
..Cutis Laxa, Autosomal Recessive, Type IIA (C562632)
..Cutis Laxa, Autosomal Recessive, Type IIB (C567855)
..Cutis laxa, recessive (C536225) 1
..Cutis Laxa-Marfanoid Syndrome (C563639)
..De Barsy syndrome (C535990)
..Generalized elastolysis (C531660)
..Hemolytic Anemia, Congenital, with Emphysema and Cutis Laxa (C562629)
..Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis (C567770)
..Michelin tire baby syndrome (C537575)
..Occipital horn syndrome (C537860)
..SCARF syndrome (C536625)
..Wrinkly skin syndrome (C536750)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

3215

Name:

Cutis Laxa, Autosomal Dominant

Definition:

Alternative IDs:

OMIM:123700|OMIM:614434|OMIM:616603

ParentIDs:

MESH:D003483

TreeNumbers:

C16.320.850.180/C562627 |C17.300.230/C562627 |C17.800.827.180/C562627

Synonyms:

Slim Mappings:

Connective tissue disease|Genetic disease (inborn)|Skin disease

Reference:

MedGen: C562627
MeSH: C562627
OMIM: 123700;
MSeqDR :
Genes: ELN; FBLN5;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000271	Abnormality of the face
3	HP:0001659	Aortic regurgitation
4	HP:0002097	Emphysema
5	HP:0001425	Heterogeneous
6	HP:0000023	Inguinal hernia
7	HP:0001653	Mitral regurgitation
8	HP:0007495	Prematurely aged appearance
9	HP:0001582	Redundant skin

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_000501.3(ELN):c.-70G>C	2006	ELN	Uncertain significance	537200597	RCV000340317\|RCV000393115\|RCV002481235;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0019571,MedGen:C0268350, Orphanet:90348\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348; MONDO:MONDO:0008678,MedGen:C0175702,OMIM:	7	73442448	73442448	NC_000007.13:g.73442448G>C	ClinGen:CA10629409	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.35G>T (p.Gly12Val)	2006	ELN	Conflicting interpretations of pathogenicity	367634266	RCV001093392\|RCV001158353\|RCV001161558\|RCV002505673;	N	MedGen:C3661900\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348; Human Phenoty	7	73442552	73442552	7:g.73442552G>T	-
NM_000501.4(ELN):c.92G>A (p.Gly31Glu)	2006	ELN	Uncertain significance	782625771	RCV001824672\|RCV001328775\|RCV001853139;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348; MONDO:MONDO:0008678,MedGen:C0175702,OMIM:194050, Orphanet:904; Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C327	7	73449703	73449703	73449703	-
NM_000501.4(ELN):c.133+6G>A	2006	ELN	Uncertain significance	1216357938	RCV000688775\|RCV001161559\|RCV003155285;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|MedGen:CN169374	7	73449750	73449750	NC_000007.13:g.73449750G>A	-	C0003499 185500 Supravalvar aortic stenosis;
NM_000501.4(ELN):c.134-10C>G	2006	ELN	Benign/Likely benign	782069123	RCV001161560\|RCV001161561;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193	7	73450875	73450875	7:g.73450875C>G	-
NM_000501.4(ELN):c.163+13A>G	2006	ELN	Conflicting interpretations of pathogenicity	782388951	RCV000260411\|RCV000355248;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193	7	73450927	73450927	NC_000007.13:g.73450927A>G	ClinGen:CA4292322	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.212C>T (p.Ala71Val)	2006	ELN	Benign/Likely benign	41350445	RCV000036526\|RCV000296928\|RCV000457034\|RCV001579535;	N	MedGen:CN169374\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MedGen:C3661900	7	73455561	73455561	7:g.73455561C>T	ClinGen:CA132761	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.232+3G>A	2006	ELN	Conflicting interpretations of pathogenicity	377172364	RCV000444452\|RCV000998804\|RCV001055635\|RCV001163092;	N	MedGen:CN169374\|MedGen:C3661900\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348	7	73455584	73455584	7:g.73455584G>A	ClinGen:CA4292385	CN169374 not specified;
NM_000501.4(ELN):c.249C>T (p.Pro83=)	2006	ELN	Benign/Likely benign	565001805	RCV000530041\|RCV000615237\|RCV001163093\|RCV002506283;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MedGen:CN169374\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM	7	73456960	73456960	7:g.73456960C>T	ClinGen:CA4292408	CN169374 not specified;
NM_000501.4(ELN):c.259T>C (p.Phe87Leu)	2006	ELN	Benign/Likely benign	140411170	RCV000276091\|RCV000541772\|RCV001706598;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MedGen:C3661900	7	73456970	73456970	NC_000007.13:g.73456970T>C	ClinGen:CA4292410	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.278C>T (p.Pro93Leu)	2006	ELN	Conflicting interpretations of pathogenicity	181019457	RCV000865974\|RCV001165177\|RCV003279129;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|MeSH:D030342,MedGen:C0950123	7	73456989	73456989	7:g.73456989C>T	-
NM_000501.4(ELN):c.326G>A (p.Gly109Asp)	2006	ELN	Conflicting interpretations of pathogenicity	145519139	RCV000272510\|RCV000462325\|RCV001531043;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MedGen:C3661900	7	73457314	73457314	7:g.73457314G>A	ClinGen:CA320313	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.328G>A (p.Ala110Thr)	2006	ELN	Conflicting interpretations of pathogenicity	137953195	RCV000327769\|RCV000382394\|RCV000492857\|RCV000984480;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|MedGen:C3661900\|MONDO:MONDO:0020290,MedGen:CN029142,OMIM:PS606215, Orphanet:98722	7	73457316	73457316	NC_000007.13:g.73457316G>A	ClinGen:CA4292446	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.359G>T (p.Gly120Val)	2006	ELN	Uncertain significance	1554669689	RCV001816025;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348; Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193	7	73457347	73457347	73457347	-
NM_000501.4(ELN):c.366A>G (p.Gly122=)	2006	ELN	Benign/Likely benign	61734587	RCV000287995\|RCV000324274\|RCV001718780;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|MedGen:C3661900	7	73457354	73457354	NC_000007.13:g.73457354A>G	ClinGen:CA4292454	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.381G>A (p.Ala127=)	2006	ELN	Likely benign	148216123	RCV001442540\|RCV002495620;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193; MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:	7	73457452	73457452	73457452	-
NM_000501.4(ELN):c.403G>A (p.Gly135Arg)	2006	ELN	Uncertain significance	373650953	RCV001567270\|RCV002488387\|RCV002570761;	N	MedGen:C3661900\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348; Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193; MONDO:MONDO:0008678,MedGen:C0175702,OMIM:194050, Orphanet:904\|Human Phenotype	7	73457474	73457474	73457474	-
NM_000501.4(ELN):c.460G>A (p.Val154Met)	2006	ELN	Conflicting interpretations of pathogenicity	145669576	RCV000522898\|RCV001158464\|RCV001158465;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348	7	73458241	73458241	NC_000007.13:g.73458241G>A	ClinGen:CA4292496
NM_000501.4(ELN):c.470-10C>G	2006	ELN	Conflicting interpretations of pathogenicity	200663056	RCV000338429\|RCV000408115\|RCV000725265;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MedGen:C3661900	7	73459542	73459542	7:g.73459542C>G	ClinGen:CA4292514	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.470-5G>A	2006	ELN	Benign/Likely benign	368292481	RCV001158466\|RCV001161667\|RCV001586012;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|MedGen:C3661900	7	73459547	73459547	7:g.73459547G>A	-
NM_000501.4(ELN):c.473C>T (p.Ala158Val)	2006	ELN	Conflicting interpretations of pathogenicity	201137255	RCV000521003\|RCV001161668\|RCV001161669\|RCV002525163;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|MeSH:D030342,MedGen:C0950123	7	73459555	73459555	NC_000007.13:g.73459555C>T	ClinGen:CA4292521
NM_000501.4(ELN):c.478T>C (p.Phe160Leu)	2006	ELN	Conflicting interpretations of pathogenicity	781857513	RCV001161671\|RCV001161670;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193	7	73459560	73459560	7:g.73459560T>C	-
NM_000501.4(ELN):c.483C>A (p.Pro161=)	2006	ELN	Conflicting interpretations of pathogenicity	150690195	RCV001161673\|RCV001161672\|RCV001702769;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|MedGen:CN517202	7	73459565	73459565	7:g.73459565C>A	-
NM_000501.4(ELN):c.590G>A (p.Gly197Glu)	2006	ELN	Uncertain significance	782698807	RCV001916288\|RCV002226792;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348	7	73461044	73461044	73461044	-
NM_000501.4(ELN):c.647G>T (p.Gly216Val)	2006	ELN	Conflicting interpretations of pathogenicity	145612009	RCV000531891\|RCV000728083\|RCV000765972\|RCV001161674;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MedGen:CN517202\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348; MONDO:MONDO:0008678,MedGen:C0175702,OMIM:194050, Orphanet:904; Human Phenotype	7	73462008	73462008	NC_000007.13:g.73462008G>T	ClinGen:CA324493
NM_000501.4(ELN):c.659C>T (p.Pro220Leu)	2006	ELN	Conflicting interpretations of pathogenicity	201012726	RCV000198008\|RCV000279620\|RCV000334634;	N	MedGen:CN517202\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193	7	73462020	73462020	NC_000007.13:g.73462020C>T	ClinGen:CA322484	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.710G>C (p.Gly237Ala)	2006	ELN	Conflicting interpretations of pathogenicity	934014841	RCV001163194\|RCV001163195\|RCV001664714;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|MedGen:CN517202	7	73462496	73462496	7:g.73462496G>C	-
NM_000501.4(ELN):c.717G>T (p.Ala239=)	2006	ELN	Uncertain significance	782502253	RCV001163196\|RCV001163197;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348	7	73462503	73462503	7:g.73462503G>T	-
NM_000501.4(ELN):c.767C>T (p.Ala256Val)	2006	ELN	Conflicting interpretations of pathogenicity	782285456	RCV000693591\|RCV001165287;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348	7	73462854	73462854	7:g.73462854C>T	-	C0003499 185500 Supravalvar aortic stenosis;
NM_000501.4(ELN):c.853G>A (p.Val285Met)	2006	ELN	Conflicting interpretations of pathogenicity	199709542	RCV001165289\|RCV001165288;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348	7	73466133	73466133	7:g.73466133G>A	-
NM_000501.4(ELN):c.861G>A (p.Gly287=)	2006	ELN	Conflicting interpretations of pathogenicity	368610108	RCV000313561\|RCV000471889\|RCV001579470;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MedGen:C3661900	7	73466141	73466141	NC_000007.13:g.73466141G>A	ClinGen:CA4292726	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.886G>A (p.Ala296Thr)	2006	ELN	Benign/Likely benign	782335529	RCV000368137\|RCV000405602;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348	7	73466166	73466166	7:g.73466166G>A	ClinGen:CA4292730	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.921A>G (p.Ala307=)	2006	ELN	Benign	6979788	RCV000310028\|RCV000364656\|RCV001706599;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MedGen:C3661900	7	73466285	73466285	7:g.73466285A>G	ClinGen:CA4292763	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.931G>A (p.Ala311Thr)	2006	ELN	Benign	41376344	RCV000266443\|RCV000361045\|RCV000839530;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MedGen:C3661900	7	73466295	73466295	NC_000007.13:g.73466295G>A	ClinGen:CA4292769	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.1097-8C>G	2006	ELN	Uncertain significance	781785100	RCV001158567\|RCV001161781;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193	7	73469038	73469038	7:g.73469038C>G	-
NM_000501.4(ELN):c.1138G>A (p.Ala380Thr)	2006	ELN	Uncertain significance	973649598	RCV000627830\|RCV002507052;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348; MONDO:MONDO:0008678,MedGen:C0175702,OMIM:194050, Orphanet:904; Human Phenotype Ontology:HP:000	7	73469087	73469087	7:g.73469087G>A	ClinGen:CA160108927	C0003499 185500 Supravalvar aortic stenosis;
NM_000501.4(ELN):c.1149C>A (p.Tyr383Ter)	2006	ELN	Pathogenic/Likely pathogenic	199621188	RCV001036361\|RCV002489542;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348; Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet	7	73469098	73469098	7:g.73469098C>A	-
NM_000501.4(ELN):c.1150G>A (p.Gly384Arg)	2006	ELN	Uncertain significance	782359367	RCV001955408\|RCV002484677\|RCV003107902;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348; MONDO:MONDO:0008678,MedGen:C0175702,OMIM:194050, Orphanet:904; Human Phenotype Ontology:HP:000	7	73469099	73469099	73469099	-
NM_000501.4(ELN):c.1232T>G (p.Val411Gly)	2006	ELN	Benign	200180992	RCV000364224\|RCV000402483\|RCV000864153;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|MedGen:C3661900	7	73470682	73470682	NC_000007.13:g.73470682T>G	ClinGen:CA4292901	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.1234G>A (p.Gly412Arg)	2006	ELN	Conflicting interpretations of pathogenicity	375116795	RCV000305970\|RCV000360713\|RCV001551670;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|MedGen:C3661900	7	73470684	73470684	NC_000007.13:g.73470684G>A	ClinGen:CA4292902	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.1269C>G (p.Val423=)	2006	ELN	Likely benign	61734583	RCV000036525\|RCV000260612\|RCV000355482\|RCV001579976;	N	MedGen:CN169374\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MedGen:C3661900	7	73470719	73470719	7:g.73470719C>G	ClinGen:CA132759	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.1269C>T (p.Val423=)	2006	ELN	Benign/Likely benign	61734583	RCV000176049\|RCV000315621\|RCV000388850\|RCV001579854;	N	MedGen:CN169374\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MedGen:C3661900	7	73470719	73470719	7:g.73470719C>T	ClinGen:CA201770	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.1271G>A (p.Gly424Glu)	2006	ELN	Benign	782725817	RCV000275861\|RCV000330902;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193	7	73470721	73470721	NC_000007.13:g.73470721G>A	ClinGen:CA4292913	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.1281C>T (p.Pro427=)	2006	ELN	Conflicting interpretations of pathogenicity	376496267	RCV000291392\|RCV000385690;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193	7	73470731	73470731	NC_000007.13:g.73470731C>T	ClinGen:CA4292915	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.1315+17C>T	2006	ELN	Benign	2856728	RCV000200638\|RCV001657983\|RCV002054295;	N	MedGen:CN169374\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193	7	73470782	73470782	NC_000007.13:g.73470782C>T	ClinGen:CA325230	CN169374 not specified;
NM_000501.4(ELN):c.1317C>T (p.Pro439=)	2006	ELN	Benign/Likely benign	201861098	RCV000346190\|RCV000382171;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193	7	73471003	73471003	NC_000007.13:g.73471003C>T	ClinGen:CA4292944	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.1325A>T (p.Gln442Leu)	2006	ELN	Uncertain significance	-1	RCV003330192;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348	7	73471011	73471011		-
NM_000501.4(ELN):c.1338C>T (p.Ala446=)	2006	ELN	Benign	146576615	RCV000287927\|RCV000342854\|RCV000600508;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|MedGen:C3661900	7	73471024	73471024	NC_000007.13:g.73471024C>T	ClinGen:CA4292949	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.1339G>A (p.Ala447Thr)	2006	ELN	Uncertain significance	139335797	RCV000303284\|RCV000392949\|RCV000413993\|RCV001355478\|RCV003409558;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|MedGen:CN169374\|MedGen:C3661900\|	7	73471025	73471025	NC_000007.13:g.73471025G>A	ClinGen:CA4292950	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.1358-199G>A	2006	ELN	Uncertain significance	781963901	RCV000709804\|RCV000734749\|RCV000813256\|RCV002227211\|RCV002477640\|RCV003392547;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193; MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|MedGen:C3661900\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM	7	73471771	73471771	NC_000007.13:g.73471771G>A	-
NM_000501.4(ELN):c.1373C>A (p.Ala458Glu)	2006	ELN	Uncertain significance	149117932	RCV001947909\|RCV002479410\|RCV003149006;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193; MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:	7	73471985	73471985	73471985	-
NM_000501.4(ELN):c.1388A>G (p.Lys463Arg)	2006	ELN	Benign	34945509	RCV000829403\|RCV001158682\|RCV001085525;	N	MedGen:C3661900\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193	7	73472000	73472000	NC_000007.13:g.73472000A>G	ClinGen:CA4293013	C0003499 185500 Supravalvar aortic stenosis;
NM_000501.4(ELN):c.1414+24C>T	2006	ELN	Benign	28763986	RCV001657020\|RCV001658385;	N	MedGen:C3661900\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348	7	73472050	73472050	73472050	-
NM_000501.4(ELN):c.1467C>T (p.Val489=)	2006	ELN	Benign/Likely benign	200512332	RCV001158683\|RCV001158684;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193	7	73474268	73474268	7:g.73474268C>T	-
NM_000501.4(ELN):c.1470T>C (p.Gly490=)	2006	ELN	Uncertain significance	576324025	RCV000339516\|RCV000406307;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348	7	73474271	73474271	NC_000007.13:g.73474271T>C	ClinGen:CA4293072	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.1484T>G (p.Val495Gly)	2006	ELN	Uncertain significance	-1	RCV002471688;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348	7	73474285	73474285	NC_000007.13:g.73474285T>G	-
NM_000501.4(ELN):c.1507G>A (p.Val503Met)	2006	ELN	Benign/Likely benign	41523046	RCV000300850\|RCV000353338\|RCV001579387;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|MedGen:C3661900	7	73474308	73474308	NC_000007.13:g.73474308G>A	ClinGen:CA4293082	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.1537G>A (p.Val513Ile)	2006	ELN	Conflicting interpretations of pathogenicity	372788076	RCV000478684\|RCV002470874\|RCV002526957\|RCV002525947;	N	MedGen:C3661900\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|MeSH:D030342,MedGen:C0950123\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193	7	73474338	73474338	NC_000007.13:g.73474338G>A	ClinGen:CA4293089
NM_000501.4(ELN):c.1543G>A (p.Val515Met)	2006	ELN	Uncertain significance	376258672	RCV001305627\|RCV001586118\|RCV002493601\|RCV002544990;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MedGen:CN517202\|MONDO:MONDO:0008678,MedGen:C0175702,OMIM:194050, Orphanet:904; MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348; Human Phenotype	7	73474344	73474344	73474344	-
NM_000501.4(ELN):c.1591_1592delinsTT (p.Ala531Phe)	2006	ELN	Uncertain significance	863223529	RCV000196960\|RCV002478682;	N	MedGen:CN169374\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348; MONDO:MONDO:0008678,MedGen:C0175702,OMIM:194050, Orphanet:904; Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193	7	73474484	73474485	NC_000007.13:g.73474484_73474485delinsTT	ClinGen:CA321390	CN169374 not specified;
NM_000501.4(ELN):c.1606G>T (p.Ala536Ser)	2006	ELN	Uncertain significance	374253638	RCV000825921\|RCV001161896\|RCV001161895\|RCV002462192;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|MedGen:CN517202	7	73474499	73474499	7:g.73474499G>T	-
NM_000501.4(ELN):c.1640G>A (p.Gly547Asp)	2006	ELN	Benign/Likely benign	150248865	RCV001163418\|RCV001163419;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193	7	73474724	73474724	7:g.73474724G>A	-
NM_000501.4(ELN):c.1674C>T (p.Gly558=)	2006	ELN	Benign/Likely benign	182784538	RCV001163420\|RCV001163421;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348	7	73474758	73474758	7:g.73474758C>T	-
NM_000501.4(ELN):c.1675G>A (p.Val559Ile)	2006	ELN	Uncertain significance	560081099	RCV000627827\|RCV000765973\|RCV000762455\|RCV002533162;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348; MONDO:MONDO:0008678,MedGen:C0175702,OMIM:194050, Orphanet:904; Human Phenotype Ontology:HP:000	7	73474759	73474759	7:g.73474759G>A	ClinGen:CA4293156	C0003499 185500 Supravalvar aortic stenosis;
NM_000501.4(ELN):c.1741G>C (p.Gly581Arg)	2006	ELN	Benign/Likely benign	17855988	RCV000154550\|RCV000330974\|RCV000383163\|RCV001657877\|RCV001723722;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0019571,MedGen:C0268350, Orphanet:90348\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|MedGen:C3661900	7	73474825	73474825	7:g.73474825G>C	ClinGen:CA295651	C0268350 Cutis laxa, autosomal dominant;
GRCh37/hg19 7q11.23(chr7:73475600-73478833)x1	2006	ELN	not provided	-1	RCV001825190;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348; Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193; MONDO:MONDO:0008678,MedGen:C0175702,OMIM:194050, Orphanet:904	7	73475600	73478833	-1	-
NM_000501.4(ELN):c.1819G>C (p.Gly607Arg)	2006	ELN	Conflicting interpretations of pathogenicity	781963804	RCV001163706\|RCV001163707;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193	7	73477515	73477515	7:g.73477515G>C	-
NM_000501.4(ELN):c.1821G>C (p.Gly607=)	2006	ELN	Benign/Likely benign	144835575	RCV000272405\|RCV000325150\|RCV001824310;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MedGen:C3661900	7	73477517	73477517	NC_000007.13:g.73477517G>C	ClinGen:CA4293243	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.1825C>T (p.Leu609Phe)	2006	ELN	Conflicting interpretations of pathogenicity	200133966	RCV000285328\|RCV000381857\|RCV001556564;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MedGen:C3661900	7	73477521	73477521	NC_000007.13:g.73477521C>T	ClinGen:CA4293244	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.1828G>A (p.Gly610Ser)	2006	ELN	Benign/Likely benign	140425210	RCV000221492\|RCV000342594\|RCV000376205\|RCV000417622;	N	MedGen:CN169374\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MedGen:C3661900	7	73477524	73477524	7:g.73477524G>A	ClinGen:CA4293247	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.1861G>A (p.Ala621Thr)	2006	ELN	Conflicting interpretations of pathogenicity	150404125	RCV000281338\|RCV000338747\|RCV001579838;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|MedGen:C3661900	7	73477642	73477642	NC_000007.13:g.73477642G>A	ClinGen:CA4293267	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.1884C>T (p.Ala628=)	2006	ELN	Conflicting interpretations of pathogenicity	372315353	RCV000862558\|RCV001336345\|RCV001593073;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|MedGen:C3661900	7	73477665	73477665	7:g.73477665C>T	-
NM_000501.4(ELN):c.1909G>A (p.Ala637Thr)	2006	ELN	Conflicting interpretations of pathogenicity	536177240	RCV000298998\|RCV000407993\|RCV001198806;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|MONDO:MONDO:0008678,MedGen:C0175702,OMIM:194050, Orphanet:904	7	73477690	73477690	NC_000007.13:g.73477690G>A	ClinGen:CA4293282	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.1941C>A (p.Leu647=)	2006	ELN	Uncertain significance	782117709	RCV001158790\|RCV001158789;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348	7	73477973	73477973	7:g.73477973C>A	-
NM_000501.4(ELN):c.1943G>A (p.Gly648Glu)	2006	ELN	Uncertain significance	140085632	RCV000484614\|RCV000765974\|RCV001856870;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193; MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348; MONDO:MONDO:0008678,MedGen:C0175702,OMIM:194050, Orphanet:904\|Human Phenotype	7	73477975	73477975	NC_000007.13:g.73477975G>A	ClinGen:CA4293310
NM_000501.4(ELN):c.1946del (p.Gly649fs)	2006	ELN	Pathogenic	1797225811	RCV000018210;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348	7	73477977	73477977	NC_000007.13:g.73477978del	OMIM:130160.0008	C3276539 123700 Cutis laxa, autosomal dominant 1;
NM_000501.4(ELN):c.1973del (p.Pro658fs)	2006	ELN	Pathogenic	-1	RCV000018212\|RCV002513096;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193	7	73478004	73478004	73478003	OMIM:130160.0010
NM_000501.4(ELN):c.1994-7T>G	2006	ELN	Conflicting interpretations of pathogenicity	375277198	RCV000863362\|RCV001158791\|RCV001571307;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|MedGen:CN517202	7	73480017	73480017	7:g.73480017T>G	-
NM_000501.4(ELN):c.1999C>T (p.Pro667Ser)	2006	ELN	Conflicting interpretations of pathogenicity	142316834	RCV000351619\|RCV000405378\|RCV001579602;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MedGen:C3661900	7	73480029	73480029	NC_000007.13:g.73480029C>T	ClinGen:CA321710	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.2058del (p.Gly688fs)	2006	ELN	Pathogenic	886039351	RCV000255995\|RCV001375937\|RCV002282092\|RCV003391019;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|	7	73480299	73480299	NC_000007.13:g.73480299del	ClinGen:CA10588435,OMIM:130160.0009
NM_000501.4(ELN):c.2077C>T (p.Pro693Ser)	2006	ELN	Conflicting interpretations of pathogenicity	369804770	RCV000311994\|RCV000369053\|RCV000443075;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MedGen:CN517202	7	73480318	73480318	NC_000007.13:g.73480318C>T	ClinGen:CA4293372	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.2086+5G>C	2006	ELN	Benign	111866046	RCV000199498\|RCV000272146\|RCV000528954\|RCV001795316\|RCV002492890;	N	MedGen:CN169374\|MONDO:MONDO:0019571,MedGen:C0268350, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MedGen:C3661900\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348; MONDO:MON	7	73480332	73480332	NC_000007.13:g.73480332G>C	ClinGen:CA324045	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.2131+14C>T	2006	ELN	Conflicting interpretations of pathogenicity	782790041	RCV001163518\|RCV001163517;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348	7	73481120	73481120	7:g.73481120C>T	-
NM_000501.4(ELN):c.2132-5T>A	2006	ELN	Benign/Likely benign	539160518	RCV001163519\|RCV001163814\|RCV001552167;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MedGen:C3661900	7	73482982	73482982	7:g.73482982T>A	-
NM_000501.4(ELN):c.2151del (p.Ala718fs)	2006	ELN	Likely pathogenic	2132828209	RCV002225215\|RCV003314033;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193	7	73483004	73483004	73483003	-
NM_000501.4(ELN):c.2161del (p.Arg721fs)	2006	ELN	Likely pathogenic	794729201	RCV000184020;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348	7	73483015	73483015	7:g.73483015_73483015del	ClinGen:CA275465	C3276539 123700 Cutis laxa, autosomal dominant 1;
NM_000501.4(ELN):c.*95C>T	2006	ELN	Uncertain significance	181078432	RCV000264936\|RCV000322369;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348	7	73483125	73483125	NC_000007.13:g.73483125C>T	ClinGen:CA10624233	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.*102C>T	2006	ELN	Uncertain significance	1464325009	RCV001158899\|RCV001163815;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193	7	73483132	73483132	7:g.73483132C>T	-
NM_000501.4(ELN):c.*171C>T	2006	ELN	Uncertain significance	781941957	RCV001158900\|RCV001158901;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193	7	73483201	73483201	7:g.73483201C>T	-
NM_000501.4(ELN):c.*172G>A	2006	ELN	Benign/Likely benign	56120764	RCV000281776\|RCV000373933\|RCV001548240;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MedGen:C3661900	7	73483202	73483202	NC_000007.13:g.73483202G>A	ClinGen:CA10629493	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.*238C>T	2006	ELN	Uncertain significance	546341976	RCV000315852\|RCV000372820;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193	7	73483268	73483268	NC_000007.13:g.73483268C>T	ClinGen:CA10626370	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.*251C>T	2006	ELN	Uncertain significance	886062430	RCV000294751\|RCV000351938;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193	7	73483281	73483281	NC_000007.13:g.73483281C>T	ClinGen:CA10626374	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.*264C>A	2006	ELN	Uncertain significance	1309771565	RCV001160240\|RCV001160241;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193	7	73483294	73483294	7:g.73483294C>A	-
NM_000501.4(ELN):c.*358C>T	2006	ELN	Uncertain significance	1489252176	RCV001160242\|RCV001160243;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348	7	73483388	73483388	7:g.73483388C>T	-
NM_000501.4(ELN):c.*383T>G	2006	ELN	Benign	184490734	RCV000293498\|RCV000391148;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193	7	73483413	73483413	NC_000007.13:g.73483413T>G	ClinGen:CA10626375	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.*458C>T	2006	ELN	Uncertain significance	886062431	RCV000306637\|RCV000363621;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193	7	73483488	73483488	NC_000007.13:g.73483488C>T	ClinGen:CA10626381	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.*489G>T	2006	ELN	Uncertain significance	886062432	RCV000305555\|RCV000404050;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193	7	73483519	73483519	NC_000007.13:g.73483519G>T	ClinGen:CA10624236	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.*532C>T	2006	ELN	Uncertain significance	939778506	RCV001163611\|RCV001163929;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193	7	73483562	73483562	7:g.73483562C>T	-
NM_000501.4(ELN):c.*548G>A	2006	ELN	Benign	117454480	RCV000319638\|RCV000353423;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348	7	73483578	73483578	NC_000007.13:g.73483578G>A	ClinGen:CA10629423	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.*562A>C	2006	ELN	Benign	539096901	RCV000260805\|RCV000332419;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348	7	73483592	73483592	NC_000007.13:g.73483592A>C	ClinGen:CA10624238	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.*570G>A	2006	ELN	Uncertain significance	565400803	RCV000292435\|RCV000389191;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348	7	73483600	73483600	NC_000007.13:g.73483600G>A	ClinGen:CA10629494	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.*578T>C	2006	ELN	Uncertain significance	1798608245	RCV001158988\|RCV001163930;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193	7	73483608	73483608	7:g.73483608T>C	-
NM_000501.4(ELN):c.*591C>T	2006	ELN	Uncertain significance	782460313	RCV001158990\|RCV001158989;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193	7	73483621	73483621	7:g.73483621C>T	-
NM_000501.4(ELN):c.*629T>C	2006	ELN	Uncertain significance	776424755	RCV000331177\|RCV000383365;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348	7	73483659	73483659	NC_000007.13:g.73483659T>C	ClinGen:CA10626394	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.*631C>T	2006	ELN	Uncertain significance	1168466814	RCV001158991\|RCV001158992;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193	7	73483661	73483661	7:g.73483661C>T	-
NM_000501.4(ELN):c.*636G>A	2006	ELN	Benign	533779578	RCV000291127\|RCV000343769;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193	7	73483666	73483666	NC_000007.13:g.73483666G>A	ClinGen:CA10629424	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.*644G>A	2006	ELN	Uncertain significance	759507028	RCV001160331\|RCV001160330;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348	7	73483674	73483674	7:g.73483674G>A	-
NM_000501.4(ELN):c.*663C>T	2006	ELN	Uncertain significance	886062433	RCV000342679\|RCV000407567;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348	7	73483693	73483693	NC_000007.13:g.73483693C>T	ClinGen:CA10629495	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.*664G>A	2006	ELN	Uncertain significance	952638605	RCV001161989\|RCV001161990;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348	7	73483694	73483694	7:g.73483694G>A	-
NM_000501.4(ELN):c.*794C>T	2006	ELN	Uncertain significance	185988110	RCV000302877\|RCV000355386;	N	MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193	7	73483824	73483824	NC_000007.13:g.73483824C>T	ClinGen:CA10629427	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.*997G>T	2006	ELN	Uncertain significance	886062434	RCV000297729\|RCV000403008;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348	7	73484027	73484027	NC_000007.13:g.73484027G>T	ClinGen:CA10624239	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.*1195C>T	2006	ELN	Benign	115872030	RCV000269788\|RCV000385281;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348	7	73484225	73484225	7:g.73484225C>T	ClinGen:CA10629500	C0268350 Cutis laxa, autosomal dominant;
NM_000501.4(ELN):c.1621C>T (p.Arg541Ter)	-1	ELN-AS1;ELN	Pathogenic	137854453	RCV000018207\|RCV000018221\|RCV000198624\|RCV003390688;	N	Human Phenotype Ontology:HP:0004381,MONDO:MONDO:0008504,MedGen:C0003499,OMIM:185500, Orphanet:3193\|MONDO:MONDO:0007411,MedGen:C3276539,OMIM:123700, Orphanet:90348\|MedGen:C3661900\|	7	73474514	73474514	NC_000007.13:g.73474514C>T	ClinGen:CA281027,OMIM:130160.0004,OMIM:130160.0019

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