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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

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Collagen Diseases (D003095)
Parent Node: Hemostatic Disorders (D020141)
Parent Node: Skin Abnormalities (D012868)
Parent Node: Skin Diseases, Genetic (D012873)
..Starting node ..Ehlers-Danlos Syndrome (D004535)
Child Nodes:
........EDS VIIB (C565061)
........Ehlers-Danlos syndrome 6B (C536192)
........Ehlers-Danlos syndrome caused by tenascin-X deficiency (C536193)
........Ehlers-Danlos syndrome type 1 (C536194)
........Ehlers-Danlos syndrome type 2 (C536195)
........Ehlers-Danlos syndrome type 3 (C536196)
........Ehlers-Danlos syndrome type 5 (C536197)
........Ehlers-Danlos syndrome type 6 (C536198)
........Ehlers-Danlos Syndrome VI Phenotype with Macrocephaly (C565563)
........Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality (C565600)
........Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified (C562424)
........Ehlers-Danlos syndrome, Beasley Cohen type (C536199)
........Ehlers-Danlos syndrome, cardiac valvular form (C536200)
........EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 (OMIM:601776)
........Ehlers-Danlos syndrome, progeroid form (C536201)
........Ehlers-Danlos Syndrome, Type VII, Autosomal Dominant (C562625)
........Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive (C567527)
........Ehlers-Danlos Syndrome, Type VIII (C562626)
........Hernandez Aguirre-Negrete syndrome (C538112)
........Joint laxity, familial (C535884)
........Occipital horn syndrome (C537860)
........OI/EDS Combined Syndrome (C565178)
........Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like (C567340)
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)
..Dyskeratosis Congenita (D019871) 3
..Ectodermal Dysplasia (D004476) 144
..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, CTD

Term ID:

3657

Name:

Ehlers-Danlos Syndrome

Definition:

A heterogeneous group of autosomally inherited COLLAGEN DISEASES caused by defects in the synthesis or structure of FIBRILLAR COLLAGEN. There are numerous subtypes: classical, hypermobility, vascular, and others. Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability.

Alternative IDs:

OMIM:130050

ParentIDs:

MESH:D003095|MESH:D012868|MESH:D012873|MESH:D020141

TreeNumbers:

C14.907.454.240 |C15.378.463.515.240 |C16.131.831.428 |C16.320.850.260 |C17.300.200.310 |C17.800.804.428 |C17.800.827.260

Synonyms:

Slim Mappings:

Reference:

MedGen: D004535
MeSH: D004535
OMIM: 130050;

Genes: COL3A1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000079	Abnormality of the urinary system
3	HP:0000387	Absent earlobe
4	HP:0002293	Alopecia of scalp
5	HP:0000978	Bruising susceptibility
6	HP:0001073	Cigarette-paper scars
7	HP:0004944	Dilatation of the cerebral artery
8	HP:0001842	Foot acroosteolysis
9	HP:0001030	Fragile skin
10	HP:0002105	Hemoptysis
11	HP:0006201	Hypermobility of distal interphalangeal joints
12	HP:0000023	Inguinal hernia
13	HP:0000563	Keratoconus
14	HP:0001634	Mitral valve prolapse
15	HP:0000993	Molluscoid pseudotumors
16	HP:0009771	Osteolytic defects of the phalanges of the hand
17	HP:0000704	Periodontitis
18	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility
19	HP:0006480	Premature loss of teeth
20	HP:0004322	Short stature
21	HP:0002108	Spontaneous pneumothorax
22	HP:0001762	Talipes equinovarus
23	HP:0000233	Thin vermilion border
24	HP:0000139	Uterine prolapse

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NR_037401.1(MIR3606):n.-6222_685del	-1	-	Pathogenic	-1	RCV000018747;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189854134	189861040	-	-		OMIM Allelic Variant:120180.0009,dbVar:nssv1415007,dbVar:nsv513779	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1455+133_1978-178del (p.Gly486_Pro659del)	-1	-	Pathogenic	-1	RCV000087371;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189859690	189863222	NM_000090.3:c.1455+133_1978-178del	NP_000081.1:p.Gly486_Pro659del		-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.30G>A (p.Trp10Ter)	1281	COL3A1	Pathogenic	587779677	RCV000087673;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189839245	189839245	NM_000090.3:c.30G>A	NP_000081.1:p.Trp10Ter	NC_000002.11:g.189839245G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.406G>C (p.Gly136Arg)	1281	COL3A1	Pathogenic	387906557	RCV000018759;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189850463	189850463	NM_000090.3:c.406G>C	NP_000081.1:p.Gly136Arg	NC_000002.11:g.189850463G>C	OMIM Allelic Variant:120180.0018	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.413delC (p.Pro138Leufs)	1281	COL3A1	Pathogenic	587779707	RCV000087713;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189850470	189850470	NM_000090.3:c.413delC	NP_000081.1:p.Pro138Leufs	NC_000002.11:g.189850470delC	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00125	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.479dupT (p.Lys161Glnfs)	1281	COL3A1	Pathogenic	397509377	RCV000022485;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189851816	189851816	NM_000090.3:c.479dupT	NP_000081.1:p.Lys161Glnfs	NC_000002.11:g.189851816dupT	OMIM Allelic Variant:120180.0034	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.539G>A (p.Gly180Asp)	1281	COL3A1	Pathogenic	587779714	RCV000087722;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189852817	189852817	NM_000090.3:c.539G>A	NP_000081.1:p.Gly180Asp	NC_000002.11:g.189852817G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00250	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.547G>A (p.Gly183Ser)	1281	COL3A1	Pathogenic	121912926	RCV000018768;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189852825	189852825	NM_000090.3:c.547G>A	NP_000081.1:p.Gly183Ser	NC_000002.11:g.189852825G>A,NC_000002.11:g.189852825G>C,NC_000002.11:g.189852825	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00006,OMIM Allelic Variant:120180.0027	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.547G>T (p.Gly183Cys)	1281	COL3A1	Pathogenic	121912926	RCV000087408;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189852825	189852825	NM_000090.3:c.547G>T	NP_000081.1:p.Gly183Cys	NC_000002.11:g.189852825G>A,NC_000002.11:g.189852825G>C,NC_000002.11:g.189852825	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00005	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.547G>C (p.Gly183Arg)	1281	COL3A1	Pathogenic	121912926	RCV000087428;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189852825	189852825	NM_000090.3:c.547G>C	NP_000081.1:p.Gly183Arg	NC_000002.11:g.189852825G>A,NC_000002.11:g.189852825G>C,NC_000002.11:g.189852825	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.548G>A (p.Gly183Asp)	1281	COL3A1	Pathogenic	587779420	RCV000087342;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189852826	189852826	NM_000090.3:c.548G>A	NP_000081.1:p.Gly183Asp	NC_000002.11:g.189852826G>A,NC_000002.11:g.189852826G>C	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00001	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.548G>C (p.Gly183Ala)	1281	COL3A1	Pathogenic	587779420	RCV000087622;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189852826	189852826	NM_000090.3:c.548G>C	NP_000081.1:p.Gly183Ala	NC_000002.11:g.189852826G>A,NC_000002.11:g.189852826G>C	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00297	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.555delT (p.Gly186Valfs)	1281	COL3A1	Pathogenic	587779451	RCV000087378;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189852833	189852833	NM_000090.3:c.555delT	NP_000081.1:p.Gly186Valfs	NC_000002.11:g.189852833delT	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00126	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.556G>A (p.Gly186Ser)	1281	COL3A1	Pathogenic	587779446	RCV000087372;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189852834	189852834	NM_000090.3:c.556G>A	NP_000081.1:p.Gly186Ser	NC_000002.11:g.189852834G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00330	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.565G>C (p.Gly189Arg)	1281	COL3A1	Pathogenic	587779507	RCV000087442;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189852843	189852843	NM_000090.3:c.565G>C	NP_000081.1:p.Gly189Arg	NC_000002.11:g.189852843G>A,NC_000002.11:g.189852843G>C	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.575G>T (p.Gly192Val)	1281	COL3A1	Pathogenic	587779710	RCV000087716;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189852853	189852853	NM_000090.3:c.575G>T	NP_000081.1:p.Gly192Val	NC_000002.11:g.189852853G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00007	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.582+1G>C (p.Gly177_Pro194del)	1281	COL3A1	Pathogenic	587779508	RCV000087443;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189852861	189852861	NM_000090.3:c.582+1G>C	NP_000081.1:p.Gly177_Pro194del	NC_000002.11:g.189852861G>C	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00139	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.582+2dupT (p.Gly177_Pro194del)	1281	COL3A1	Pathogenic	587779524	RCV000087461;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189852862	189852862	NM_000090.3:c.582+2dupT	NP_000081.1:p.Gly177_Pro194del	NC_000002.11:g.189852862dupT	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00139	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.582+5G>A (p.Gly177_Pro194del)	1281	COL3A1	Pathogenic	587779671	RCV000087663;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189852865	189852865	NM_000090.3:c.582+5G>A	NP_000081.1:p.Gly177_Pro194del	NC_000002.11:g.189852865G>A,NC_000002.11:g.189852865G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.582+5G>T (p.Gly177_Pro194del)	1281	COL3A1	Pathogenic	587779671	RCV000087731;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189852865	189852865	NM_000090.3:c.582+5G>T	NP_000081.1:p.Gly177_Pro194del	NC_000002.11:g.189852865G>A,NC_000002.11:g.189852865G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.582+6T>C	1281	COL3A1	Pathogenic	397509375	RCV000018760;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189852866	189852866	NM_000090.3:c.582+6T>C		NC_000002.11:g.189852866T>A,NC_000002.11:g.189852866T>C	OMIM Allelic Variant:120180.0019	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.582+6T>A (p.Gly177_Pro194del)	1281	COL3A1	Pathogenic	397509375	RCV000087497;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189852866	189852866	NM_000090.3:c.582+6T>A	NP_000081.1:p.Gly177_Pro194del	NC_000002.11:g.189852866T>A,NC_000002.11:g.189852866T>C	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.583G>C (p.Gly195Arg)	1281	COL3A1	Pathogenic	267599120	RCV000087630;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189853316	189853316	NM_000090.3:c.583G>C	NP_000081.1:p.Gly195Arg	NC_000002.11:g.189853316G>C	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.592G>A (p.Gly198Arg)	1281	COL3A1	Pathogenic	587779601	RCV000087553;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189853325	189853325	NM_000090.3:c.592G>A	NP_000081.1:p.Gly198Arg	NC_000002.11:g.189853325G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.593G>A (p.Gly198Glu)	1281	COL3A1	Pathogenic	587779641	RCV000087611;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189853326	189853326	NM_000090.3:c.593G>A	NP_000081.1:p.Gly198Glu	NC_000002.11:g.189853326G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.601G>C (p.Gly201Arg)	1281	COL3A1	Pathogenic	587779436	RCV000087360;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189853334	189853334	NM_000090.3:c.601G>C	NP_000081.1:p.Gly201Arg	NC_000002.11:g.189853334G>C	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00008	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.610G>A (p.Gly204Ser)	1281	COL3A1	Pathogenic	587779711	RCV000087717;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189853343	189853343	NM_000090.3:c.610G>A	NP_000081.1:p.Gly204Ser	NC_000002.11:g.189853343G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00009	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.611G>A (p.Gly204Asp)	1281	COL3A1	Pathogenic	587779626	RCV000087589;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189853344	189853344	NM_000090.3:c.611G>A	NP_000081.1:p.Gly204Asp	NC_000002.11:g.189853344G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00010	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.615_629dupACCTGGGCAAGCTGG (p.Pro211_Ser212insGlyGlnAlaGlyPro)	1281	COL3A1	Pathogenic	587779628	RCV000087591;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189853348	189853362	NM_000090.3:c.615_629dupACCTGGGCAAGCTGG	NP_000081.1:p.Pro211_Ser212insGlyGlnAlaGlyPro	NC_000002.11:g.189853348_189853362dupACCTGGGCAAGCTGG	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.620G>T (p.Gly207Val)	1281	COL3A1	Pathogenic	587779592	RCV000087544;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189853353	189853353	NM_000090.3:c.620G>T	NP_000081.1:p.Gly207Val	NC_000002.11:g.189853353G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.629G>T (p.Gly210Val)	1281	COL3A1	Pathogenic	587779515	RCV000087452;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189853362	189853362	NM_000090.3:c.629G>T	NP_000081.1:p.Gly210Val	NC_000002.11:g.189853362G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00011	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.631_636+6delinsTACTAAATATA (p.Gly195_Ser212del)	1281	COL3A1	Pathogenic	587779681	RCV000087677;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189853364	189853375	NM_000090.3:c.631_636+6delinsTACTAAATATA	NP_000081.1:p.Gly195_Ser212del	NC_000002.11:g.189853364_189853375delCCTTCAGTAAGTinsTACTAAATATA	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.636+1G>A (p.Gly195_Ser212del)	1281	COL3A1	Pathogenic	587779676	RCV000087671;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189853370	189853370	NM_000090.3:c.636+1G>A	NP_000081.1:p.Gly195_Ser212del	NC_000002.11:g.189853370G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.636+5G>A (p.Gly195_Ser212del)	1281	COL3A1	Pathogenic	587779688	RCV000087686;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189853374	189853374	NM_000090.3:c.636+5G>A	NP_000081.1:p.Gly195_Ser212del	NC_000002.11:g.189853374G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00140	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.637G>A (p.Gly213Ser)	1281	COL3A1	Pathogenic	587779557	RCV000087499;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189854122	189854122	NM_000090.3:c.637G>A	NP_000081.1:p.Gly213Ser	NC_000002.11:g.189854122G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.647G>A (p.Gly216Glu)	1281	COL3A1	Pathogenic	587779596	RCV000087548;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189854132	189854132	NM_000090.3:c.647G>A	NP_000081.1:p.Gly216Glu	NC_000002.11:g.189854132G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.655G>T (p.Gly219Cys)	1281	COL3A1	Pathogenic	587779624	RCV000087585;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189854140	189854140	NM_000090.3:c.655G>T	NP_000081.1:p.Gly219Cys	NC_000002.11:g.189854140G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00012	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.656G>C (p.Gly219Ala)	1281	COL3A1	Pathogenic	587779441	RCV000087365;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189854141	189854141	NM_000090.3:c.656G>C	NP_000081.1:p.Gly219Ala	NC_000002.11:g.189854141G>A,NC_000002.11:g.189854141G>C	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.656G>A (p.Gly219Asp)	1281	COL3A1	Pathogenic	587779441	RCV000087598;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189854141	189854141	NM_000090.3:c.656G>A	NP_000081.1:p.Gly219Asp	NC_000002.11:g.189854141G>A,NC_000002.11:g.189854141G>C	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.665G>T (p.Gly222Val)	1281	COL3A1	Pathogenic	587779518	RCV000087455;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189854150	189854150	NM_000090.3:c.665G>T	NP_000081.1:p.Gly222Val	NC_000002.11:g.189854150G>A,NC_000002.11:g.189854150G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00301	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.665G>A (p.Gly222Asp)	1281	COL3A1	Pathogenic	587779518	RCV000087631;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189854150	189854150	NM_000090.3:c.665G>A	NP_000081.1:p.Gly222Asp	NC_000002.11:g.189854150G>A,NC_000002.11:g.189854150G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00211	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.674G>T (p.Gly225Val)	1281	COL3A1	Pathogenic	587779533	RCV000087473;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189854159	189854159	NM_000090.3:c.674G>T	NP_000081.1:p.Gly225Val	NC_000002.11:g.189854159G>C,NC_000002.11:g.189854159G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00013	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.674G>C (p.Gly225Ala)	1281	COL3A1	Pathogenic	587779533	RCV000087708;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189854159	189854159	NM_000090.3:c.674G>C	NP_000081.1:p.Gly225Ala	NC_000002.11:g.189854159G>C,NC_000002.11:g.189854159G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.682G>C (p.Gly228Arg)	1281	COL3A1	Pathogenic	587779470	RCV000087400;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189854167	189854167	NM_000090.3:c.682G>C	NP_000081.1:p.Gly228Arg	NC_000002.11:g.189854167G>C	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.683G>A (p.Gly228Glu)	1281	COL3A1	Pathogenic	587779555	RCV000087496;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189854168	189854168	NM_000090.3:c.683G>A	NP_000081.1:p.Gly228Glu	NC_000002.11:g.189854168G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00014	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.690+1G>A (p.Gly213_Asp230del)	1281	COL3A1	Pathogenic	587779660	RCV000087642;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189854176	189854176	NM_000090.3:c.690+1G>A	NP_000081.1:p.Gly213_Asp230del	NC_000002.11:g.189854176G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00141	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.690+2T>G (p.Gly213_Asp230del)	1281	COL3A1	Pathogenic	587779497	RCV000087431;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189854177	189854177	NM_000090.3:c.690+2T>G	NP_000081.1:p.Gly213_Asp230del	NC_000002.11:g.189854177T>A,NC_000002.11:g.189854177T>G	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00143	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.690+2T>A (p.Gly213_Asp230del)	1281	COL3A1	Pathogenic	587779497	RCV000087505;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189854177	189854177	NM_000090.3:c.690+2T>A	NP_000081.1:p.Gly213_Asp230del	NC_000002.11:g.189854177T>A,NC_000002.11:g.189854177T>G	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00142	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.701G>A (p.Gly234Asp)	1281	COL3A1	Pathogenic	587779656	RCV000087637;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189854832	189854832	NM_000090.3:c.701G>A	NP_000081.1:p.Gly234Asp	NC_000002.11:g.189854832G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.709G>A (p.Gly237Arg)	1281	COL3A1	Pathogenic	587779625	RCV000087587; RCV000181072;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000; MedGen:CN221809	2	189854840	189854840	NM_000090.3:c.709G>A	NP_000081.1:p.Gly237Arg	NC_000002.11:g.189854840G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00260	C0268338 130050 Ehlers-Danlos syndrome, type 4; CN221809 not provided
NM_000090.3(COL3A1):c.718G>C (p.Gly240Arg)	1281	COL3A1	Pathogenic	587779468	RCV000087398;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189854849	189854849	NM_000090.3:c.718G>C	NP_000081.1:p.Gly240Arg	NC_000002.11:g.189854849G>C	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00015	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.728G>T (p.Gly243Val)	1281	COL3A1	Pathogenic	587779629	RCV000087594;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189854859	189854859	NM_000090.3:c.728G>T	NP_000081.1:p.Gly243Val	NC_000002.11:g.189854859G>A,NC_000002.11:g.189854859G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00016	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.728G>A (p.Gly243Glu)	1281	COL3A1	Pathogenic	587779629	RCV000087666;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189854859	189854859	NM_000090.3:c.728G>A	NP_000081.1:p.Gly243Glu	NC_000002.11:g.189854859G>A,NC_000002.11:g.189854859G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.737G>A (p.Gly246Glu)	1281	COL3A1	Pathogenic	587779570	RCV000087519;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189854868	189854868	NM_000090.3:c.737G>A	NP_000081.1:p.Gly246Glu	NC_000002.11:g.189854868G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.746G>A (p.Gly249Asp)	1281	COL3A1	Pathogenic	121912927	RCV000018748;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189855034	189855034	NM_000090.3:c.746G>A	NP_000081.1:p.Gly249Asp	NC_000002.11:g.189855034G>A,NC_000002.11:g.189855034G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00017,OMIM Allelic Variant:120180.0028	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.746G>T (p.Gly249Val)	1281	COL3A1	Pathogenic	121912927	RCV000087533;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189855034	189855034	NM_000090.3:c.746G>T	NP_000081.1:p.Gly249Val	NC_000002.11:g.189855034G>A,NC_000002.11:g.189855034G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00018	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.754G>C (p.Gly252Arg)	1281	COL3A1	Pathogenic	587779705	RCV000087709;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189855042	189855042	NM_000090.3:c.754G>C	NP_000081.1:p.Gly252Arg	NC_000002.11:g.189855042G>C	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00019	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.755G>T (p.Gly252Val)	1281	COL3A1	Pathogenic	587779464	RCV000087393;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189855043	189855043	NM_000090.3:c.755G>T	NP_000081.1:p.Gly252Val	NC_000002.11:g.189855043G>A,NC_000002.11:g.189855043G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00021	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.755G>A (p.Gly252Asp)	1281	COL3A1	Pathogenic	587779464	RCV000087501;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189855043	189855043	NM_000090.3:c.755G>A	NP_000081.1:p.Gly252Asp	NC_000002.11:g.189855043G>A,NC_000002.11:g.189855043G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00020	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.764G>T (p.Gly255Val)	1281	COL3A1	Pathogenic	587779605	RCV000087560;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189855052	189855052	NM_000090.3:c.764G>T	NP_000081.1:p.Gly255Val	NC_000002.11:g.189855052G>A,NC_000002.11:g.189855052G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00022	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.764G>A (p.Gly255Glu)	1281	COL3A1	Pathogenic	587779605	RCV000087664;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189855052	189855052	NM_000090.3:c.764G>A	NP_000081.1:p.Gly255Glu	NC_000002.11:g.189855052G>A,NC_000002.11:g.189855052G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.766delA (p.Ile256Tyrfs)	1281	COL3A1	Pathogenic	587779455	RCV000087383;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189855054	189855054	NM_000090.3:c.766delA	NP_000081.1:p.Ile256Tyrfs	NC_000002.11:g.189855054delA	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00232	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.782G>A (p.Gly261Asp)	1281	COL3A1	Pathogenic	587779635	RCV000087605;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189855070	189855070	NM_000090.3:c.782G>A	NP_000081.1:p.Gly261Asp	NC_000002.11:g.189855070G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.791G>A (p.Gly264Glu)	1281	COL3A1	Pathogenic	587779604	RCV000087558;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189855079	189855079	NM_000090.3:c.791G>A	NP_000081.1:p.Gly264Glu	NC_000002.11:g.189855079G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.798+1G>A (p.Phe268Leufs*10)	1281	COL3A1	Pathogenic	587779463	RCV000087392;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189855087	189855087	NM_000090.3:c.798+1G>A	NP_000081.1:p.Phe268Leufs*10	NC_000002.11:g.189855087G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00233	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.799G>A (p.Gly267Ser)	1281	COL3A1	Pathogenic	587779718	RCV000087728;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189855730	189855730	NM_000090.3:c.799G>A	NP_000081.1:p.Gly267Ser	NC_000002.11:g.189855730G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.800G>T (p.Gly267Val)	1281	COL3A1	Pathogenic	587779427	RCV000087350;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189855731	189855731	NM_000090.3:c.800G>T	NP_000081.1:p.Gly267Val	NC_000002.11:g.189855731G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00026	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.809G>A (p.Gly270Glu)	1281	COL3A1	Pathogenic	587779478	RCV000087410;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189855740	189855740	NM_000090.3:c.809G>A	NP_000081.1:p.Gly270Glu	NC_000002.11:g.189855740G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.812G>A (p.Arg271Gln)	1281	COL3A1	Likely benign	112185887	RCV000148458; RCV000181073;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000; MedGen:CN169374	2	189855743	189855743	NM_000090.3:c.812G>A	NP_000081.1:p.Arg271Gln	NC_000002.11:g.189855743G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4; CN169374 not specified
NM_000090.3(COL3A1):c.827G>A (p.Gly276Asp)	1281	COL3A1	Pathogenic	587779644	RCV000087616;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189855758	189855758	NM_000090.3:c.827G>A	NP_000081.1:p.Gly276Asp	NC_000002.11:g.189855758G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.836G>A (p.Gly279Asp)	1281	COL3A1	Pathogenic	587779593	RCV000087545;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189855767	189855767	NM_000090.3:c.836G>A	NP_000081.1:p.Gly279Asp	NC_000002.11:g.189855767G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00261	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.844G>A (p.Gly282Arg)	1281	COL3A1	Pathogenic	587779531	RCV000087471;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189855775	189855775	NM_000090.3:c.844G>A	NP_000081.1:p.Gly282Arg	NC_000002.11:g.189855775G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.898-1G>C (p.Gly300_Ala317del)	1281	COL3A1	Pathogenic	587779556	RCV000087498;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189856394	189856394	NM_000090.3:c.898-1G>C	NP_000081.1:p.Gly300_Ala317del	NC_000002.11:g.189856394G>C	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00285	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.898G>C (p.Gly300Arg)	1281	COL3A1	Pathogenic	587779481	RCV000087413;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189856395	189856395	NM_000090.3:c.898G>C	NP_000081.1:p.Gly300Arg	NC_000002.11:g.189856395G>C	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.899G>T (p.Gly300Val)	1281	COL3A1	Pathogenic	587779440	RCV000087364;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189856396	189856396	NM_000090.3:c.899G>T	NP_000081.1:p.Gly300Val	NC_000002.11:g.189856396G>A,NC_000002.11:g.189856396G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.899G>A (p.Gly300Asp)	1281	COL3A1	Pathogenic	587779440	RCV000087380;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189856396	189856396	NM_000090.3:c.899G>A	NP_000081.1:p.Gly300Asp	NC_000002.11:g.189856396G>A,NC_000002.11:g.189856396G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.907G>A (p.Gly303Arg)	1281	COL3A1	Pathogenic	121912919	RCV000087368;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189856404	189856404	NM_000090.3:c.907G>A	NP_000081.1:p.Gly303Arg	NC_000002.11:g.189856404G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00028	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.926G>A (p.Gly309Glu)	1281	COL3A1	Pathogenic	113871730	RCV000087602;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189856423	189856423	NM_000090.3:c.926G>A	NP_000081.1:p.Gly309Glu	NC_000002.11:g.189856423G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00287	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.944G>C (p.Gly315Ala)	1281	COL3A1	Pathogenic	587779487	RCV000087420;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189856441	189856441	NM_000090.3:c.944G>C	NP_000081.1:p.Gly315Ala	NC_000002.11:g.189856441G>C	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.951_951+14del (p.Gly300_Ala317del)	1281	COL3A1	Pathogenic	587779425	RCV000087348;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189856448	189856462	NM_000090.3:c.951_951+14del	NP_000081.1:p.Gly300_Ala317del	NC_000002.11:g.189856448_189856462delAGTGAGTATAGCTGC	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00129	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.951+1G>A (p.Gly300_Ala317del)	1281	COL3A1	Pathogenic	587779652	RCV000087629;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189856449	189856449	NM_000090.3:c.951+1G>A	NP_000081.1:p.Gly300_Ala317del	NC_000002.11:g.189856449G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00284	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.951+2T>A (p.Gly300_Ala317del)	1281	COL3A1	Pathogenic	587779426	RCV000087349;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189856450	189856450	NM_000090.3:c.951+2T>A	NP_000081.1:p.Gly300_Ala317del	NC_000002.11:g.189856450T>A,NC_000002.11:g.189856450T>C	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.951+2T>C (p.Gly300_Ala317del)	1281	COL3A1	Pathogenic	587779426	RCV000087377;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189856450	189856450	NM_000090.3:c.951+2T>C	NP_000081.1:p.Gly300_Ala317del	NC_000002.11:g.189856450T>A,NC_000002.11:g.189856450T>C	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.951+3G>T (p.Gly300_Ala317del)	1281	COL3A1	Pathogenic	587779452	RCV000087379;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189856451	189856451	NM_000090.3:c.951+3G>T	NP_000081.1:p.Gly300_Ala317del	NC_000002.11:g.189856451G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00144	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.951+4A>T (p.Gly300_Ala317del)	1281	COL3A1	Pathogenic	587779598	RCV000087550;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189856452	189856452	NM_000090.3:c.951+4A>T	NP_000081.1:p.Gly300_Ala317del	NC_000002.11:g.189856452A>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.951+5G>A (p.Gly300_Ala317del)	1281	COL3A1	Pathogenic	587779422	RCV000087345;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189856453	189856453	NM_000090.3:c.951+5G>A	NP_000081.1:p.Gly300_Ala317del	NC_000002.11:g.189856453G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.951+6T>C (p.Gly300_Ala317del)	1281	COL3A1	Pathogenic	587779423	RCV000087346;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189856454	189856454	NM_000090.3:c.951+6T>C	NP_000081.1:p.Gly300_Ala317del	NC_000002.11:g.189856454T>A,NC_000002.11:g.189856454T>C	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00262	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.951+6T>A (p.Gly300_Ala317del)	1281	COL3A1	Pathogenic	587779423	RCV000087479;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189856454	189856454	NM_000090.3:c.951+6T>A	NP_000081.1:p.Gly300_Ala317del	NC_000002.11:g.189856454T>A,NC_000002.11:g.189856454T>C	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.955_974del20insTTTACATCGAGGGTTTTAAAGTTTACA (p.Ala319Phefs)	1281	COL3A1	Pathogenic	587779655	RCV000087636;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189856913	189856932	NM_000090.3:c.955_974del20insTTTACATCGAGGGTTTTAAAGTTTACA	NP_000081.1:p.Ala319Phefs	NC_000002.11:g.189856913_189856932del20insTTTACATCGAGGGTTTTAAAGTTTACA	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00254	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.962G>T (p.Gly321Val)	1281	COL3A1	Pathogenic	587779588	RCV000087540;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189856920	189856920	NM_000090.3:c.962G>T	NP_000081.1:p.Gly321Val	NC_000002.11:g.189856920G>A,NC_000002.11:g.189856920G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00029	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.962G>A (p.Gly321Asp)	1281	COL3A1	Pathogenic	587779588	RCV000087628;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189856920	189856920	NM_000090.3:c.962G>A	NP_000081.1:p.Gly321Asp	NC_000002.11:g.189856920G>A,NC_000002.11:g.189856920G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.970G>A (p.Gly324Ser)	1281	COL3A1	Pathogenic	587779650	RCV000087626;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189856928	189856928	NM_000090.3:c.970G>A	NP_000081.1:p.Gly324Ser	NC_000002.11:g.189856928G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00030	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.976C>T (p.Arg326Ter)	1281	COL3A1	Pathogenic	587779607	RCV000087562; RCV000181122;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000; MedGen:CN221809	2	189856934	189856934	NM_000090.3:c.976C>T	NP_000081.1:p.Arg326Ter	NC_000002.11:g.189856934C>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4; CN221809 not provided
NM_000090.3(COL3A1):c.996+1G>A (p.Gly318_Pro332del)	1281	COL3A1	Pathogenic	587779516	RCV000087453;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189856955	189856955	NM_000090.3:c.996+1G>A	NP_000081.1:p.Gly318_Pro332del	NC_000002.11:g.189856955G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00335	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.996+2T>A (p.Gly318_Pro332del)	1281	COL3A1	Pathogenic	587779649	RCV000087625;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189856956	189856956	NM_000090.3:c.996+2T>A	NP_000081.1:p.Gly318_Pro332del	NC_000002.11:g.189856956T>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.997-10A>G (p.Pro332_Gly333insFFQ)	1281	COL3A1	Pathogenic	587779670	RCV000087661;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189857603	189857603	NM_000090.3:c.997-10A>G	NP_000081.1:p.Pro332_Gly333insFFQ	NC_000002.11:g.189857603A>G	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.997-2A>G (p.Gly333_Lys350del+)	1281	COL3A1	Pathogenic	587779602	RCV000087555;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189857611	189857611	NM_000090.3:c.997-2A>G	NP_000081.1:p.Gly333_Lys350del+	NC_000002.11:g.189857611A>G	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00310	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.997-1G>C (p.Gly333_Lys350del+)	1281	COL3A1	Pathogenic	587779687	RCV000087685; RCV000181075;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000; MedGen:CN221809	2	189857612	189857612	NM_000090.3:c.997-1G>C	NP_000081.1:p.Gly333_Lys350del+	NC_000002.11:g.189857612G>C	-	C0268338 130050 Ehlers-Danlos syndrome, type 4; CN221809 not provided
NM_000090.3(COL3A1):c.998G>A (p.Gly333Asp)	1281	COL3A1	Pathogenic	587779673	RCV000087668;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189857614	189857614	NM_000090.3:c.998G>A	NP_000081.1:p.Gly333Asp	NC_000002.11:g.189857614G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1033G>A (p.Gly345Arg)	1281	COL3A1	Pathogenic	587779419	RCV000087341;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189857649	189857649	NM_000090.3:c.1033G>A	NP_000081.1:p.Gly345Arg	NC_000002.11:g.189857649G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00031	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1052G>T (p.Gly351Val)	1281	COL3A1	Pathogenic	587779498	RCV000087432;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189858088	189858088	NM_000090.3:c.1052G>T	NP_000081.1:p.Gly351Val	NC_000002.11:g.189858088G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1068_1069insGACCCTGCA (p.Ala356_Gly357insAspProAla)	1281	COL3A1	Pathogenic	587779579	RCV000087528;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189858104	189858105	NM_000090.3:c.1068_1069insGACCCTGCA	NP_000081.1:p.Ala356_Gly357insAspProAla	NC_000002.11:g.189858104_189858105insGACCCTGCA	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1087G>A (p.Gly363Ser)	1281	COL3A1	Pathogenic	587779499	RCV000087433;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189858123	189858123	NM_000090.3:c.1087G>A	NP_000081.1:p.Gly363Ser	NC_000002.11:g.189858123G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1096G>A (p.Gly366Arg)	1281	COL3A1	Pathogenic	587779696	RCV000087694;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189858132	189858132	NM_000090.3:c.1096G>A	NP_000081.1:p.Gly366Arg	NC_000002.11:g.189858132G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1099_1116del18 (p.Gln367_Gly372del)	1281	COL3A1	Pathogenic	587779525	RCV000087462;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189858135	189858152	NM_000090.3:c.1099_1116del18	NP_000081.1:p.Gln367_Gly372del	NC_000002.11:g.189858135_189858152del18	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1105_1107delGGA (p.Gly369del)	1281	COL3A1	Pathogenic	587779686	RCV000087683;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189858141	189858143	NM_000090.3:c.1105_1107delGGA	NP_000081.1:p.Gly369del	NC_000002.11:g.189858141_189858143delGGA	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1115G>T (p.Gly372Val)	1281	COL3A1	Pathogenic	587779547	RCV000087488;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189858151	189858151	NM_000090.3:c.1115G>T	NP_000081.1:p.Gly372Val	NC_000002.11:g.189858151G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1124G>A (p.Gly375Glu)	1281	COL3A1	Pathogenic	587779569	RCV000087518;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189858160	189858160	NM_000090.3:c.1124G>A	NP_000081.1:p.Gly375Glu	NC_000002.11:g.189858160G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1142G>A (p.Gly381Asp)	1281	COL3A1	Pathogenic	587779544	RCV000087485;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189858178	189858178	NM_000090.3:c.1142G>A	NP_000081.1:p.Gly381Asp	NC_000002.11:g.189858178G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1149+1G>A (p.Gly351_Pro383del)	1281	COL3A1	Pathogenic	587779443	RCV000018743;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189858186	189858186	NM_000090.3:c.1149+1G>A	NP_000081.1:p.Gly351_Pro383del	NC_000002.11:g.189858186G>A,NC_000002.11:g.189858186G>T	OMIM Allelic Variant:120180.0005	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1149+1G>T (p.Gly351_Pro383del)	1281	COL3A1	Pathogenic	587779443	RCV000087596;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189858186	189858186	NM_000090.3:c.1149+1G>T	NP_000081.1:p.Gly351_Pro383del	NC_000002.11:g.189858186G>A,NC_000002.11:g.189858186G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1149+5G>A (p.Gly351_Pro383del)	1281	COL3A1	Pathogenic	587779538	RCV000087478;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189858190	189858190	NM_000090.3:c.1149+5G>A	NP_000081.1:p.Gly351_Pro383del	NC_000002.11:g.189858190G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1150-1G>C (p.Gly384_Met398del)	1281	COL3A1	Pathogenic	587779520	RCV000087457;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189858763	189858763	NM_000090.3:c.1150-1G>C	NP_000081.1:p.Gly384_Met398del	NC_000002.11:g.189858763G>C	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00146	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1150-1_1166delinsCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC (p.Gly384_Met398del	1281	COL3A1	Pathogenic	587779612	RCV000087570;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189858763	189858780	NM_000090.3:c.1150-1_1166delinsCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC	NP_000081.1:p.Gly384_Met398del	NC_000002.11:g.189858763_189858780del18insCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACC	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1151G>T (p.Gly384Val)	1281	COL3A1	Likely pathogenic	794727181	RCV000175122;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189858765	189858765	NM_000090.3:c.1151G>T	NP_000081.1:p.Gly384Val	NC_000002.11:g.189858765G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1189_1194+23del (p.Gly384_Met398del)	1281	COL3A1	Pathogenic	587779430	RCV000087354;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189858803	189858831	NM_000090.3:c.1189_1194+23del	NP_000081.1:p.Gly384_Met398del	NC_000002.11:g.189858803_189858831del29	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1194+1G>C (p.Gly384_Met398del)	1281	COL3A1	Pathogenic	587779459	RCV000087388;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189858809	189858809	NM_000090.3:c.1194+1G>C	NP_000081.1:p.Gly384_Met398del	NC_000002.11:g.189858809G>A,NC_000002.11:g.189858809G>C	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1194+1G>A (p.Gly384_Met398del)	1281	COL3A1	Pathogenic	587779459	RCV000087531;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189858809	189858809	NM_000090.3:c.1194+1G>A	NP_000081.1:p.Gly384_Met398del	NC_000002.11:g.189858809G>A,NC_000002.11:g.189858809G>C	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00312	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1231G>C (p.Gly411Arg)	1281	COL3A1	Pathogenic	587779534	RCV000087474;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189858996	189858996	NM_000090.3:c.1231G>C	NP_000081.1:p.Gly411Arg	NC_000002.11:g.189858996G>C	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1240G>T (p.Gly414Cys)	1281	COL3A1	Pathogenic	587779485	RCV000087417;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189859005	189859005	NM_000090.3:c.1240G>T	NP_000081.1:p.Gly414Cys	NC_000002.11:g.189859005G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1249G>A (p.Gly417Arg)	1281	COL3A1	Pathogenic	587779637	RCV000087607;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189859014	189859014	NM_000090.3:c.1249G>A	NP_000081.1:p.Gly417Arg	NC_000002.11:g.189859014G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00034	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1258G>A (p.Gly420Ser)	1281	COL3A1	Pathogenic	587779692	RCV000087690;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189859023	189859023	NM_000090.3:c.1258G>A	NP_000081.1:p.Gly420Ser	NC_000002.11:g.189859023G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00228	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1267G>A (p.Gly423Ser)	1281	COL3A1	Pathogenic	587779631	RCV000087599;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189859032	189859032	NM_000090.3:c.1267G>A	NP_000081.1:p.Gly423Ser	NC_000002.11:g.189859032G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1268G>A (p.Gly423Asp)	1281	COL3A1	Pathogenic	587779586	RCV000087537;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189859033	189859033	NM_000090.3:c.1268G>A	NP_000081.1:p.Gly423Asp	NC_000002.11:g.189859033G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1294-3T>G (p.Gly432_Arg449del)	1281	COL3A1	Pathogenic	587779496	RCV000087430;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189859264	189859264	NM_000090.3:c.1294-3T>G	NP_000081.1:p.Gly432_Arg449del	NC_000002.11:g.189859264T>G	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1330G>A (p.Gly444Arg)	1281	COL3A1	Pathogenic	587779489	RCV000087422;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189859303	189859303	NM_000090.3:c.1330G>A	NP_000081.1:p.Gly444Arg	NC_000002.11:g.189859303G>A,NC_000002.11:g.189859303G>C	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00035	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1330G>C (p.Gly444Arg)	1281	COL3A1	Pathogenic	587779489	RCV000087567;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189859303	189859303	NM_000090.3:c.1330G>C	NP_000081.1:p.Gly444Arg	NC_000002.11:g.189859303G>A,NC_000002.11:g.189859303G>C	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1347+1G>A (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+)	1281	COL3A1	Pathogenic	397509370	RCV000018742; RCV000087697;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000; MedGen:CN071423	2	189859321	189859321	NM_000090.3:c.1347+1G>A	NP_000081.1:p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+	NC_000002.11:g.189859321G>A,NC_000002.11:g.189859321G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00166,OMIM Allelic Variant:120180.0004	C0268338 130050 Ehlers-Danlos syndrome, type 4; CN071423 Ehlers-Danlos syndrome, type 4 variant
NM_000090.3(COL3A1):c.1347+1G>T (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+)	1281	COL3A1	Pathogenic	397509370	RCV000087712;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189859321	189859321	NM_000090.3:c.1347+1G>T	NP_000081.1:p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+	NC_000002.11:g.189859321G>A,NC_000002.11:g.189859321G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00166	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1347+3A>C (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+)	1281	COL3A1	Pathogenic	587779453	RCV000087381;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189859323	189859323	NM_000090.3:c.1347+3A>C	NP_000081.1:p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+	NC_000002.11:g.189859323A>C	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1347+5G>C (p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+)	1281	COL3A1	Pathogenic	587779721	RCV000087733;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189859325	189859325	NM_000090.3:c.1347+5G>C	NP_000081.1:p.Arg449_Gly450insValSerPheThrAlaThrAspLeu+	NC_000002.11:g.189859325G>C	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1358G>A (p.Gly453Asp)	1281	COL3A1	Pathogenic	587779621	RCV000087581;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189859460	189859460	NM_000090.3:c.1358G>A	NP_000081.1:p.Gly453Asp	NC_000002.11:g.189859460G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00036	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1384G>A (p.Gly462Ser)	1281	COL3A1	Pathogenic	587779633	RCV000087603;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189859486	189859486	NM_000090.3:c.1384G>A	NP_000081.1:p.Gly462Ser	NC_000002.11:g.189859486G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1410delT (p.Gly471Glufs)	1281	COL3A1	Pathogenic	587779665	RCV000087652;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189859512	189859512	NM_000090.3:c.1410delT	NP_000081.1:p.Gly471Glufs	NC_000002.11:g.189859512delT	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00235	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1456-13_1499del (p.Gly486_Lys503del)	1281	COL3A1	Pathogenic	-1	RCV000087707;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189859759	189859815	NM_000090.3:c.1456-13_1499del	NP_000081.1:p.Gly486_Lys503del		-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1456-10T>G (p.Arg485_Gly486insTyrPheGln)	1281	COL3A1	Pathogenic	587779701	RCV000087702;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189859762	189859762	NM_000090.3:c.1456-10T>G	NP_000081.1:p.Arg485_Gly486insTyrPheGln	NC_000002.11:g.189859762T>G	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1466G>A (p.Gly489Glu)	1281	COL3A1	Pathogenic	587779476	RCV000087407;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189859782	189859782	NM_000090.3:c.1466G>A	NP_000081.1:p.Gly489Glu	NC_000002.11:g.189859782G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00037	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1475G>A (p.Gly492Glu)	1281	COL3A1	Pathogenic	587779500	RCV000087434;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189859791	189859791	NM_000090.3:c.1475G>A	NP_000081.1:p.Gly492Glu	NC_000002.11:g.189859791G>A,NC_000002.11:g.189859791G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1475G>T (p.Gly492Val)	1281	COL3A1	Pathogenic	587779500	RCV000087578;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189859791	189859791	NM_000090.3:c.1475G>T	NP_000081.1:p.Gly492Val	NC_000002.11:g.189859791G>A,NC_000002.11:g.189859791G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1501G>A (p.Gly501Arg)	1281	COL3A1	Pathogenic	587779523	RCV000087460;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189859817	189859817	NM_000090.3:c.1501G>A	NP_000081.1:p.Gly501Arg	NC_000002.11:g.189859817G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00038	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1511G>T (p.Gly504Val)	1281	COL3A1	Pathogenic	587779632	RCV000087601;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189860419	189860419	NM_000090.3:c.1511G>T	NP_000081.1:p.Gly504Val	NC_000002.11:g.189860419G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00217	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1550C>T (p.Pro517Leu)	1281	COL3A1	Likely benign;Uncertain significance	142085247	RCV000148460; RCV000157140; RCV000212483;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000; MedGen:CN118826, Orphanet:ORPHA91387; MedGen:CN169374	2	189860458	189860458	NM_000090.3:c.1550C>T	NP_000081.1:p.Pro517Leu	NC_000002.11:g.189860458C>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4; CN169374 not specified; CN118826 Thoracic aortic aneurysm and aortic dissection
NM_000090.3(COL3A1):c.1556G>A (p.Gly519Glu)	1281	COL3A1	Pathogenic	587779693	RCV000087691;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189860464	189860464	NM_000090.3:c.1556G>A	NP_000081.1:p.Gly519Glu	NC_000002.11:g.189860464G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00039	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1610delG (p.Gly537Alafs)	1281	COL3A1	Pathogenic	587779702	RCV000087703;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189860852	189860852	NM_000090.3:c.1610delG	NP_000081.1:p.Gly537Alafs	NC_000002.11:g.189860852delG	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1618G>A (p.Gly540Arg)	1281	COL3A1	Pathogenic	587779584	RCV000087535; RCV000181084;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000; MedGen:CN221809	2	189860860	189860860	NM_000090.3:c.1618G>A	NP_000081.1:p.Gly540Arg	NC_000002.11:g.189860860G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00040	C0268338 130050 Ehlers-Danlos syndrome, type 4; CN221809 not provided
NM_000090.3(COL3A1):c.1646G>A (p.Gly549Glu)	1281	COL3A1	Pathogenic	587779679	RCV000087675;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189860888	189860888	NM_000090.3:c.1646G>A	NP_000081.1:p.Gly549Glu	NC_000002.11:g.189860888G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00041	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1655G>A (p.Gly552Glu)	1281	COL3A1	Pathogenic	121912928	RCV000018751;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189860897	189860897	NM_000090.3:c.1655G>A	NP_000081.1:p.Gly552Glu	NC_000002.11:g.189860897G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00042,OMIM Allelic Variant:120180.0030	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1662+1G>T (p.Gly537_Pro554del)	1281	COL3A1	Pathogenic	587779535	RCV000087475;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189860905	189860905	NM_000090.3:c.1662+1G>T	NP_000081.1:p.Gly537_Pro554del	NC_000002.11:g.189860905G>A,NC_000002.11:g.189860905G>C,NC_000002.11:g.189860905	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1662+1G>A (p.Gly537_Pro554del)	1281	COL3A1	Pathogenic	587779535	RCV000087506; RCV000181086;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000; MedGen:CN221809	2	189860905	189860905	NM_000090.3:c.1662+1G>A	NP_000081.1:p.Gly537_Pro554del	NC_000002.11:g.189860905G>A,NC_000002.11:g.189860905G>C,NC_000002.11:g.189860905	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00147	C0268338 130050 Ehlers-Danlos syndrome, type 4; CN221809 not provided
NM_000090.3(COL3A1):c.1662+1G>C (p.Gly537_Pro554del)	1281	COL3A1	Pathogenic	587779535	RCV000087559;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189860905	189860905	NM_000090.3:c.1662+1G>C	NP_000081.1:p.Gly537_Pro554del	NC_000002.11:g.189860905G>A,NC_000002.11:g.189860905G>C,NC_000002.11:g.189860905	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00355	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1662+2dupT (p.Gly537_Pro554del)	1281	COL3A1	Pathogenic	587779537	RCV000087477;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189860906	189860906	NM_000090.3:c.1662+2dupT	NP_000081.1:p.Gly537_Pro554del	NC_000002.11:g.189860906dupT	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1744G>A (p.Gly582Ser)	1281	COL3A1	Pathogenic	121912923	RCV000018765; RCV000181088;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000; MedGen:CN221809	2	189861205	189861205	NM_000090.3:c.1744G>A	NP_000081.1:p.Gly582Ser	NC_000002.11:g.189861205G>A,NC_000002.11:g.189861205G>C	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00044,OMIM Allelic Variant:120180.0024	C0268338 130050 Ehlers-Danlos syndrome, type 4; CN221809 not provided
NM_000090.3(COL3A1):c.1744G>C (p.Gly582Arg)	1281	COL3A1	Pathogenic	121912923	RCV000087353;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189861205	189861205	NM_000090.3:c.1744G>C	NP_000081.1:p.Gly582Arg	NC_000002.11:g.189861205G>A,NC_000002.11:g.189861205G>C	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1761+2T>C (p.Gly555_Asp587del)	1281	COL3A1	Pathogenic	587779530	RCV000087469;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189861224	189861224	NM_000090.3:c.1761+2T>C	NP_000081.1:p.Gly555_Asp587del	NC_000002.11:g.189861224T>C,NC_000002.11:g.189861224T>G	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1761+2T>G (p.Gly555_Asp587del)	1281	COL3A1	Pathogenic	587779530	RCV000087588;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189861224	189861224	NM_000090.3:c.1761+2T>G	NP_000081.1:p.Gly555_Asp587del	NC_000002.11:g.189861224T>C,NC_000002.11:g.189861224T>G	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1761+5G>T	1281	COL3A1	Pathogenic	397509372	RCV000018752;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189861227	189861227	NM_000090.3:c.1761+5G>T		NC_000002.11:g.189861227G>A,NC_000002.11:g.189861227G>T	OMIM Allelic Variant:120180.0011	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1761+5G>A (p.Gly555_Asp587del)	1281	COL3A1	Pathogenic	397509372	RCV000087446;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189861227	189861227	NM_000090.3:c.1761+5G>A	NP_000081.1:p.Gly555_Asp587del	NC_000002.11:g.189861227G>A,NC_000002.11:g.189861227G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1762-2A>G (p.Gly588_Gln605del)	1281	COL3A1	Pathogenic	587779722	RCV000087734;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189861889	189861889	NM_000090.3:c.1762-2A>G	NP_000081.1:p.Gly588_Gln605del	NC_000002.11:g.189861889A>G	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00276	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1763_1769delGTGCTCCinsTAAG (p.Gly588_Pro590delinsValSer)	1281	COL3A1	Pathogenic	587779510	RCV000087445;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189861892	189861898	NM_000090.3:c.1763_1769delGTGCTCCinsTAAG	NP_000081.1:p.Gly588_Pro590delinsValSer	NC_000002.11:g.189861892_189861898delGTGCTCCinsTAAG	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00306	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1763G>A (p.Gly588Asp)	1281	COL3A1	Pathogenic	587779691	RCV000087689;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189861892	189861892	NM_000090.3:c.1763G>A	NP_000081.1:p.Gly588Asp	NC_000002.11:g.189861892G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00045	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1773dupT (p.Lys592Terfs)	1281	COL3A1	Pathogenic	587779608	RCV000087563;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189861902	189861902	NM_000090.3:c.1773dupT	NP_000081.1:p.Lys592Terfs	NC_000002.11:g.189861902dupT	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00236	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1786C>T (p.Arg596Ter)	1281	COL3A1	Pathogenic	587779527	RCV000087466;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189861915	189861915	NM_000090.3:c.1786C>T	NP_000081.1:p.Arg596Ter	NC_000002.11:g.189861915C>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1804C>A (p.Pro602Thr)	1281	COL3A1	Benign	35795890	RCV000203161; RCV000124401;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000; MedGen:CN169374	2	189861933	189861933	NM_000090.3:c.1804C>A	NP_000081.1:p.Pro602Thr	NC_000002.11:g.189861933C>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4; CN169374 not specified
NM_000090.3(COL3A1):c.1808G>T (p.Gly603Val)	1281	COL3A1	Pathogenic	587779477	RCV000087409;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189861937	189861937	NM_000090.3:c.1808G>T	NP_000081.1:p.Gly603Val	NC_000002.11:g.189861937G>A,NC_000002.11:g.189861937G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1808G>A (p.Gly603Asp)	1281	COL3A1	Pathogenic	587779477	RCV000087470;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189861937	189861937	NM_000090.3:c.1808G>A	NP_000081.1:p.Gly603Asp	NC_000002.11:g.189861937G>A,NC_000002.11:g.189861937G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00191	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1808delG (p.Gly603Alafs)	1281	COL3A1	Pathogenic	587779594	RCV000087546;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189861937	189861937	NM_000090.3:c.1808delG	NP_000081.1:p.Gly603Alafs	NC_000002.11:g.189861937delG	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00237	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1816G>C (p.Gly606Arg)	1281	COL3A1	Pathogenic	587779613	RCV000087571;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189862062	189862062	NM_000090.3:c.1816G>C	NP_000081.1:p.Gly606Arg	NC_000002.11:g.189862062G>C	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1831_1832delAA (p.Asn611Trpfs)	1281	COL3A1	Pathogenic	587779462	RCV000087391;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189862077	189862078	NM_000090.3:c.1831_1832delAA	NP_000081.1:p.Asn611Trpfs	NC_000002.11:g.189862077_189862078delAA	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00131	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1844G>A (p.Gly615Glu)	1281	COL3A1	Pathogenic	587779634	RCV000087604;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189862090	189862090	NM_000090.3:c.1844G>A	NP_000081.1:p.Gly615Glu	NC_000002.11:g.189862090G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00046	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1861G>T (p.Gly621Trp)	1281	COL3A1	Pathogenic	587779616	RCV000087574;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189862107	189862107	NM_000090.3:c.1861G>T	NP_000081.1:p.Gly621Trp	NC_000002.11:g.189862107G>C,NC_000002.11:g.189862107G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1861G>C (p.Gly621Arg)	1281	COL3A1	Pathogenic	587779616	RCV000087680;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189862107	189862107	NM_000090.3:c.1861G>C	NP_000081.1:p.Gly621Arg	NC_000002.11:g.189862107G>C,NC_000002.11:g.189862107G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1862G>T (p.Gly621Val)	1281	COL3A1	Pathogenic	587779539	RCV000087480;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189862108	189862108	NM_000090.3:c.1862G>T	NP_000081.1:p.Gly621Val	NC_000002.11:g.189862108G>A,NC_000002.11:g.189862108G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1862G>A (p.Gly621Glu)	1281	COL3A1	Pathogenic	587779539	RCV000087582;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189862108	189862108	NM_000090.3:c.1862G>A	NP_000081.1:p.Gly621Glu	NC_000002.11:g.189862108G>A,NC_000002.11:g.189862108G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1869+1G>C (p.Gly606_Thr623del)	1281	COL3A1	Pathogenic	587779600	RCV000087552;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189862116	189862116	NM_000090.3:c.1869+1G>C	NP_000081.1:p.Gly606_Thr623del	NC_000002.11:g.189862116G>C	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00222	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1869+5G>A	1281	COL3A1	Pathogenic	397509376	RCV000018762;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189862120	189862120	NM_000090.3:c.1869+5G>A		NC_000002.11:g.189862120G>A,NC_000002.11:g.189862120G>T	OMIM Allelic Variant:120180.0021	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1869+5G>T (p.Gly606_Thr623del)	1281	COL3A1	Pathogenic	397509376	RCV000087724;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189862120	189862120	NM_000090.3:c.1869+5G>T	NP_000081.1:p.Gly606_Thr623del	NC_000002.11:g.189862120G>A,NC_000002.11:g.189862120G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00148	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1870-2A>T (p.Gly624_Gln641del)	1281	COL3A1	Pathogenic	587779575	RCV000087524;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189862424	189862424	NM_000090.3:c.1870-2A>T	NP_000081.1:p.Gly624_Gln641del	NC_000002.11:g.189862424A>G,NC_000002.11:g.189862424A>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1870-2A>G (p.Gly624_Gln641del)	1281	COL3A1	Pathogenic	587779575	RCV000087662;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189862424	189862424	NM_000090.3:c.1870-2A>G	NP_000081.1:p.Gly624_Gln641del	NC_000002.11:g.189862424A>G,NC_000002.11:g.189862424A>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1898G>A (p.Gly633Glu)	1281	COL3A1	Pathogenic	587779611	RCV000087569;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189862454	189862454	NM_000090.3:c.1898G>A	NP_000081.1:p.Gly633Glu	NC_000002.11:g.189862454G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00258	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1906G>C (p.Gly636Arg)	1281	COL3A1	Pathogenic	587779522	RCV000087459;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189862462	189862462	NM_000090.3:c.1906G>C	NP_000081.1:p.Gly636Arg	NC_000002.11:g.189862462G>C	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00047	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1915G>C (p.Gly639Arg)	1281	COL3A1	Pathogenic	587779435	RCV000087359;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189862471	189862471	NM_000090.3:c.1915G>C	NP_000081.1:p.Gly639Arg	NC_000002.11:g.189862471G>A,NC_000002.11:g.189862471G>C	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1915G>A (p.Gly639Arg)	1281	COL3A1	Pathogenic	587779435	RCV000087657;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189862471	189862471	NM_000090.3:c.1915G>A	NP_000081.1:p.Gly639Arg	NC_000002.11:g.189862471G>A,NC_000002.11:g.189862471G>C	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1916G>A (p.Gly639Glu)	1281	COL3A1	Pathogenic	587779421	RCV000087344;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189862472	189862472	NM_000090.3:c.1916G>A	NP_000081.1:p.Gly639Glu	NC_000002.11:g.189862472G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1923+1G>A (p.Gly624_Gln641del)	1281	COL3A1	Pathogenic	587779573	RCV000087522;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189862480	189862480	NM_000090.3:c.1923+1G>A	NP_000081.1:p.Gly624_Gln641del	NC_000002.11:g.189862480G>A,NC_000002.11:g.189862480G>C	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00176	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1923+1G>C (p.Gly624_Gln641del)	1281	COL3A1	Pathogenic	587779573	RCV000087699;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189862480	189862480	NM_000090.3:c.1923+1G>C	NP_000081.1:p.Gly624_Gln641del	NC_000002.11:g.189862480G>A,NC_000002.11:g.189862480G>C	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00149	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1923+2_1923+5delTAAG (p.Gly624_Gln641del)	1281	COL3A1	Pathogenic	786200946	RCV000087595;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189862481	189862484	NM_000090.3:c.1923+2_1923+5delTAAG	NP_000081.1:p.Gly624_Gln641del	NC_000002.11:g.189862481_189862484delTAAG	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00462	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1925G>T (p.Gly642Val)	1281	COL3A1	Pathogenic	587779661	RCV000087644;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189862993	189862993	NM_000090.3:c.1925G>T	NP_000081.1:p.Gly642Val	NC_000002.11:g.189862993G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1961G>A (p.Gly654Glu)	1281	COL3A1	Pathogenic	587779620	RCV000087580;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189863029	189863029	NM_000090.3:c.1961G>A	NP_000081.1:p.Gly654Glu	NC_000002.11:g.189863029G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1970G>A (p.Gly657Glu)	1281	COL3A1	Pathogenic	587779699	RCV000087698;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189863038	189863038	NM_000090.3:c.1970G>A	NP_000081.1:p.Gly657Glu	NC_000002.11:g.189863038G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00048	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1974_1977+4del (p.Gly642_Pro659del)	1281	COL3A1	Pathogenic	587779475	RCV000087406;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189863042	189863049	NM_000090.3:c.1974_1977+4del	NP_000081.1:p.Gly642_Pro659del	NC_000002.11:g.189863042_189863049delACCAGTAA	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1977+2T>G (p.Gly642_Pro659del)	1281	COL3A1	Pathogenic	587779603	RCV000087557;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189863047	189863047	NM_000090.3:c.1977+2T>G	NP_000081.1:p.Gly642_Pro659del	NC_000002.11:g.189863047T>G	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1978-6_1981del (p.Gly660_Lys662del)	1281	COL3A1	Pathogenic	587779700	RCV000087701;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189863394	189863403	NM_000090.3:c.1978-6_1981del	NP_000081.1:p.Gly660_Lys662del	NC_000002.11:g.189863394_189863403delTCCCAGGGTC	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1979G>A (p.Gly660Asp)	1281	COL3A1	Pathogenic	587779493	RCV000087426;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189863401	189863401	NM_000090.3:c.1979G>A	NP_000081.1:p.Gly660Asp	NC_000002.11:g.189863401G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00049	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1987G>C (p.Gly663Arg)	1281	COL3A1	Likely pathogenic;Pathogenic	587779433	RCV000087357; RCV000181090;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000; MedGen:CN221809	2	189863409	189863409	NM_000090.3:c.1987G>C	NP_000081.1:p.Gly663Arg	NC_000002.11:g.189863409G>C	-	C0268338 130050 Ehlers-Danlos syndrome, type 4; CN221809 not provided
NM_000090.3(COL3A1):c.1988G>A (p.Gly663Asp)	1281	COL3A1	Pathogenic	587779454	RCV000087382;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189863410	189863410	NM_000090.3:c.1988G>A	NP_000081.1:p.Gly663Asp	NC_000002.11:g.189863410G>A,NC_000002.11:g.189863410G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00079	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.1988G>T (p.Gly663Val)	1281	COL3A1	Likely pathogenic;Pathogenic	587779454	RCV000087672; RCV000181091;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000; MedGen:CN221809	2	189863410	189863410	NM_000090.3:c.1988G>T	NP_000081.1:p.Gly663Val	NC_000002.11:g.189863410G>A,NC_000002.11:g.189863410G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4; CN221809 not provided
NM_000090.3(COL3A1):c.1997G>A (p.Gly666Asp)	1281	COL3A1	Pathogenic	121912921	RCV000018763;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189863419	189863419	NM_000090.3:c.1997G>A	NP_000081.1:p.Gly666Asp	NC_000002.11:g.189863419G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00050,OMIM Allelic Variant:120180.0022	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2022G>A (p.Lys674=)	1281	COL3A1	Pathogenic	587779643	RCV000087614;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189863444	189863444	NM_000090.3:c.2022G>A	NP_000081.1:p.Lys674=	NC_000002.11:g.189863444G>A,NC_000002.11:g.189863444G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2022G>T (p.Lys674Asn)	1281	COL3A1	Pathogenic	587779643	RCV000087729;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189863444	189863444	NM_000090.3:c.2022G>T	NP_000081.1:p.Lys674Asn	NC_000002.11:g.189863444G>A,NC_000002.11:g.189863444G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2022+2T>C (p.Gly660_Lys674del)	1281	COL3A1	Pathogenic	587779429	RCV000087352;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189863446	189863446	NM_000090.3:c.2022+2T>C	NP_000081.1:p.Gly660_Lys674del	NC_000002.11:g.189863446T>C	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2023-1G>A (p.Gly675Valfs*116)	1281	COL3A1	Pathogenic	587779708	RCV000087714;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189864010	189864010	NM_000090.3:c.2023-1G>A	NP_000081.1:p.Gly675Valfs*116	NC_000002.11:g.189864010G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2024G>T (p.Gly675Val)	1281	COL3A1	Pathogenic	587779597	RCV000087549;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189864012	189864012	NM_000090.3:c.2024G>T	NP_000081.1:p.Gly675Val	NC_000002.11:g.189864012G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2035G>A (p.Ala679Thr)	1281	COL3A1	Benign;Likely benign	41263773	RCV000205824; RCV000029620; RCV000181054;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000; MedGen:CN078214; MedGen:CN169374	2	189864023	189864023	NM_000090.3:c.2035G>A	NP_000081.1:p.Ala679Thr	NC_000002.11:g.189864023G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4; CN078214 Familial aortopathy; CN169374 not specified
NM_000090.3(COL3A1):c.2051G>T (p.Gly684Val)	1281	COL3A1	Pathogenic	587779587	RCV000087539;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189864039	189864039	NM_000090.3:c.2051G>T	NP_000081.1:p.Gly684Val	NC_000002.11:g.189864039G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2059G>C (p.Gly687Arg)	1281	COL3A1	Pathogenic	587779577	RCV000087526;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189864047	189864047	NM_000090.3:c.2059G>C	NP_000081.1:p.Gly687Arg	NC_000002.11:g.189864047G>C	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2068G>A (p.Gly690Arg)	1281	COL3A1	Pathogenic	587779474	RCV000087405;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189864056	189864056	NM_000090.3:c.2068G>A	NP_000081.1:p.Gly690Arg	NC_000002.11:g.189864056G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2069G>T (p.Gly690Val)	1281	COL3A1	Pathogenic	587779458	RCV000087387;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189864057	189864057	NM_000090.3:c.2069G>T	NP_000081.1:p.Gly690Val	NC_000002.11:g.189864057G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2078G>C (p.Gly693Ala)	1281	COL3A1	Pathogenic	587779442	RCV000087366;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189864066	189864066	NM_000090.3:c.2078G>C	NP_000081.1:p.Gly693Ala	NC_000002.11:g.189864066G>C	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2087G>A (p.Gly696Asp)	1281	COL3A1	Pathogenic	587779591	RCV000087543;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189864075	189864075	NM_000090.3:c.2087G>A	NP_000081.1:p.Gly696Asp	NC_000002.11:g.189864075G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2095G>C (p.Gly699Arg)	1281	COL3A1	Pathogenic	587779668	RCV000087656;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189864083	189864083	NM_000090.3:c.2095G>C	NP_000081.1:p.Gly699Arg	NC_000002.11:g.189864083G>C	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00052	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2096G>A (p.Gly699Asp)	1281	COL3A1	Pathogenic	587779706	RCV000087710;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189864084	189864084	NM_000090.3:c.2096G>A	NP_000081.1:p.Gly699Asp	NC_000002.11:g.189864084G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2105G>A (p.Gly702Asp)	1281	COL3A1	Pathogenic	587779512	RCV000087449;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189864093	189864093	NM_000090.3:c.2105G>A	NP_000081.1:p.Gly702Asp	NC_000002.11:g.189864093G>A,NC_000002.11:g.189864093G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2105G>T (p.Gly702Val)	1281	COL3A1	Pathogenic	587779512	RCV000087600;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189864093	189864093	NM_000090.3:c.2105G>T	NP_000081.1:p.Gly702Val	NC_000002.11:g.189864093G>A,NC_000002.11:g.189864093G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2113G>A (p.Gly705Arg)	1281	COL3A1	Pathogenic	587779623	RCV000087584;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189864101	189864101	NM_000090.3:c.2113G>A	NP_000081.1:p.Gly705Arg	NC_000002.11:g.189864101G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2114G>A (p.Gly705Glu)	1281	COL3A1	Pathogenic	587779460	RCV000087389;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189864102	189864102	NM_000090.3:c.2114G>A	NP_000081.1:p.Gly705Glu	NC_000002.11:g.189864102G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2121+1G>C (p.Gly675_Lys707del)	1281	COL3A1	Pathogenic	587779675	RCV000087670;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189864110	189864110	NM_000090.3:c.2121+1G>C	NP_000081.1:p.Gly675_Lys707del	NC_000002.11:g.189864110G>C	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2122_2148del27 (p.Pro712_Gly720del)	1281	COL3A1	Pathogenic	587779560	RCV000087503;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189864196	189864222	NM_000090.3:c.2122_2148del27	NP_000081.1:p.Pro712_Gly720del	NC_000002.11:g.189864196_189864222del27	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2123G>T (p.Gly708Val)	1281	COL3A1	Likely pathogenic;Pathogenic	111929073	RCV000087633;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189864197	189864197	NM_000090.3:c.2123G>T	NP_000081.1:p.Gly708Val	NC_000002.11:g.189864197G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00053	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2131G>A (p.Gly711Ser)	1281	COL3A1	Pathogenic	587779695	RCV000087693;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189864205	189864205	NM_000090.3:c.2131G>A	NP_000081.1:p.Gly711Ser	NC_000002.11:g.189864205G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00054	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2135C>T (p.Pro712Leu)	1281	COL3A1	Uncertain significance	780028064	RCV000202857;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189864209	189864209	NM_000090.3:c.2135C>T	NP_000081.1:p.Pro712Leu	NC_000002.11:g.189864209C>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2140G>A (p.Gly714Arg)	1281	COL3A1	Pathogenic	587779437	RCV000087361;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189864214	189864214	NM_000090.3:c.2140G>A	NP_000081.1:p.Gly714Arg	NC_000002.11:g.189864214G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2141G>A (p.Gly714Glu)	1281	COL3A1	Pathogenic	587779678	RCV000087674;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189864215	189864215	NM_000090.3:c.2141G>A	NP_000081.1:p.Gly714Glu	NC_000002.11:g.189864215G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2142_2168del27 (p.Pro715_Gly723del)	1281	COL3A1	Pathogenic	587779657	RCV000087638;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189864216	189864242	NM_000090.3:c.2142_2168del27	NP_000081.1:p.Pro715_Gly723del	NC_000002.11:g.189864216_189864242del27	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2150G>A (p.Gly717Asp)	1281	COL3A1	Pathogenic	587779549	RCV000087490;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189864224	189864224	NM_000090.3:c.2150G>A	NP_000081.1:p.Gly717Asp	NC_000002.11:g.189864224G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00251	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2168G>A (p.Gly723Asp)	1281	COL3A1	Pathogenic	587779581	RCV000087530;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189864242	189864242	NM_000090.3:c.2168G>A	NP_000081.1:p.Gly723Asp	NC_000002.11:g.189864242G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2176G>A (p.Gly726Arg)	1281	COL3A1	Pathogenic	587779638	RCV000087608;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189864250	189864250	NM_000090.3:c.2176G>A	NP_000081.1:p.Gly726Arg	NC_000002.11:g.189864250G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00055	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2177G>A (p.Gly726Glu)	1281	COL3A1	Pathogenic	587779698	RCV000087696;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189864251	189864251	NM_000090.3:c.2177G>A	NP_000081.1:p.Gly726Glu	NC_000002.11:g.189864251G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2185G>A (p.Gly729Arg)	1281	COL3A1	Pathogenic	587779543	RCV000087484;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189864259	189864259	NM_000090.3:c.2185G>A	NP_000081.1:p.Gly729Arg	NC_000002.11:g.189864259G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2186G>A (p.Gly729Glu)	1281	COL3A1	Pathogenic	587779680	RCV000087676;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189864260	189864260	NM_000090.3:c.2186G>A	NP_000081.1:p.Gly729Glu	NC_000002.11:g.189864260G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2194G>A (p.Gly732Arg)	1281	COL3A1	Pathogenic	587779606	RCV000087561;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189864268	189864268	NM_000090.3:c.2194G>A	NP_000081.1:p.Gly732Arg	NC_000002.11:g.189864268G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00266	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2203G>A (p.Gly735Arg)	1281	COL3A1	Pathogenic	587779484	RCV000087416;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189864277	189864277	NM_000090.3:c.2203G>A	NP_000081.1:p.Gly735Arg	NC_000002.11:g.189864277G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00255	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2212G>A (p.Gly738Ser)	1281	COL3A1	Pathogenic	121912925	RCV000018767;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189864286	189864286	NM_000090.3:c.2212G>A	NP_000081.1:p.Gly738Ser	NC_000002.11:g.189864286G>A,NC_000002.11:g.189864286G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00057,OMIM Allelic Variant:120180.0026	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2212G>T (p.Gly738Cys)	1281	COL3A1	Pathogenic	121912925	RCV000087593;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189864286	189864286	NM_000090.3:c.2212G>T	NP_000081.1:p.Gly738Cys	NC_000002.11:g.189864286G>A,NC_000002.11:g.189864286G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2213G>T (p.Gly738Val)	1281	COL3A1	Pathogenic	587779615	RCV000087573;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189864287	189864287	NM_000090.3:c.2213G>T	NP_000081.1:p.Gly738Val	NC_000002.11:g.189864287G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00058	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2221G>A (p.Gly741Ser)	1281	COL3A1	Pathogenic	587779685	RCV000087682;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189864295	189864295	NM_000090.3:c.2221G>A	NP_000081.1:p.Gly741Ser	NC_000002.11:g.189864295G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00300	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2222G>A (p.Gly741Asp)	1281	COL3A1	Pathogenic	553203474	RCV000087343;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189864296	189864296	NM_000090.3:c.2222G>A	NP_000081.1:p.Gly741Asp	NC_000002.11:g.189864296G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00321	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2231G>T (p.Gly744Val)	1281	COL3A1	Pathogenic	587779697	RCV000087695;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189864569	189864569	NM_000090.3:c.2231G>T	NP_000081.1:p.Gly744Val	NC_000002.11:g.189864569G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00059	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2276G>A (p.Gly759Asp)	1281	COL3A1	Pathogenic	587779418	RCV000087340;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189864614	189864614	NM_000090.3:c.2276G>A	NP_000081.1:p.Gly759Asp	NC_000002.11:g.189864614G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2284-2A>G (p.Gly762_Lys779del)	1281	COL3A1	Pathogenic	587779558	RCV000087500;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189866121	189866121	NM_000090.3:c.2284-2A>G	NP_000081.1:p.Gly762_Lys779del	NC_000002.11:g.189866121A>G	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2284G>C (p.Gly762Arg)	1281	COL3A1	Pathogenic	587779694	RCV000087692;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189866123	189866123	NM_000090.3:c.2284G>C	NP_000081.1:p.Gly762Arg	NC_000002.11:g.189866123G>C	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00302	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2285G>T (p.Gly762Val)	1281	COL3A1	Pathogenic	587779541	RCV000087482;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189866124	189866124	NM_000090.3:c.2285G>T	NP_000081.1:p.Gly762Val	NC_000002.11:g.189866124G>A,NC_000002.11:g.189866124G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00332	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2285G>A (p.Gly762Asp)	1281	COL3A1	Pathogenic	587779541	RCV000087615;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189866124	189866124	NM_000090.3:c.2285G>A	NP_000081.1:p.Gly762Asp	NC_000002.11:g.189866124G>A,NC_000002.11:g.189866124G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00278	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2293G>A (p.Gly765Ser)	1281	COL3A1	Pathogenic	587779630	RCV000087597;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189866132	189866132	NM_000090.3:c.2293G>A	NP_000081.1:p.Gly765Ser	NC_000002.11:g.189866132G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2294G>T (p.Gly765Val)	1281	COL3A1	Pathogenic	587779492	RCV000087425;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189866133	189866133	NM_000090.3:c.2294G>T	NP_000081.1:p.Gly765Val	NC_000002.11:g.189866133G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2337G>A (p.Lys779=)	1281	COL3A1	Pathogenic	587779461	RCV000087390;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189866176	189866176	NM_000090.3:c.2337G>A	NP_000081.1:p.Lys779=	NC_000002.11:g.189866176G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2337+1G>A (p.Gly762_Lys779del)	1281	COL3A1	Pathogenic	587779663	RCV000087648;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189866177	189866177	NM_000090.3:c.2337+1G>A	NP_000081.1:p.Gly762_Lys779del	NC_000002.11:g.189866177G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00151	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2337+2T>C (p.Gly762_Lys779del)	1281	COL3A1	Pathogenic	587779513	RCV000087450;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189866178	189866178	NM_000090.3:c.2337+2T>C	NP_000081.1:p.Gly762_Lys779del	NC_000002.11:g.189866178T>C	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00152	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2356G>A (p.Gly786Arg)	1281	COL3A1	Pathogenic	113485686	RCV000018740; RCV000087507;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000; MedGen:CN071423	2	189866280	189866280	NM_000090.3:c.2356G>A	NP_000081.1:p.Gly786Arg	NC_000002.11:g.189866280G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00062,OMIM Allelic Variant:120180.0002	C0268338 130050 Ehlers-Danlos syndrome, type 4; CN071423 Ehlers-Danlos syndrome, type 4 variant
NM_000090.3(COL3A1):c.2357G>T (p.Gly786Val)	1281	COL3A1	Pathogenic	587779564	RCV000087512;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189866281	189866281	NM_000090.3:c.2357G>T	NP_000081.1:p.Gly786Val	NC_000002.11:g.189866281G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2402G>A (p.Gly801Asp)	1281	COL3A1	Pathogenic	587779689	RCV000087687;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189867034	189867034	NM_000090.3:c.2402G>A	NP_000081.1:p.Gly801Asp	NC_000002.11:g.189867034G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00063	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2437G>A (p.Gly813Ser)	1281	COL3A1	Pathogenic	397509369	RCV000018739;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189867069	189867069	NM_000090.3:c.2437G>A	NP_000081.1:p.Gly813Ser	NC_000002.11:g.189867069G>A	OMIM Allelic Variant:120180.0001	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2445+2dupT (p.Gly798_Pro815del)	1281	COL3A1	Pathogenic	587779572	RCV000087521;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189867079	189867079	NM_000090.3:c.2445+2dupT	NP_000081.1:p.Gly798_Pro815del	NC_000002.11:g.189867079dupT	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00170	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2445+5G>A (p.Gly798_Pro815del)	1281	COL3A1	Pathogenic	587779636	RCV000087606;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189867082	189867082	NM_000090.3:c.2445+5G>A	NP_000081.1:p.Gly798_Pro815del	NC_000002.11:g.189867082G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2482G>T (p.Gly828Trp)	1281	COL3A1	Pathogenic	587779486	RCV000087418;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189867717	189867717	NM_000090.3:c.2482G>T	NP_000081.1:p.Gly828Trp	NC_000002.11:g.189867717G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2490_2516del27 (p.Glu832_Gly840del)	1281	COL3A1	Pathogenic	397509374	RCV000018754;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189867725	189867751	NM_000090.3:c.2490_2516del27	NP_000081.1:p.Glu832_Gly840del	NC_000002.11:g.189867725_189867751del27	OMIM Allelic Variant:120180.0013	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2501G>A (p.Gly834Asp)	1281	COL3A1	Pathogenic	587779642	RCV000087612;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189867736	189867736	NM_000090.3:c.2501G>A	NP_000081.1:p.Gly834Asp	NC_000002.11:g.189867736G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00067	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2510G>A (p.Gly837Asp)	1281	COL3A1	Pathogenic	587779526	RCV000087463;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189867745	189867745	NM_000090.3:c.2510G>A	NP_000081.1:p.Gly837Asp	NC_000002.11:g.189867745G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00067	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2534dupC (p.Gly846Trpfs)	1281	COL3A1	Pathogenic	587779653	RCV000087634;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189867769	189867769	NM_000090.3:c.2534dupC	NP_000081.1:p.Gly846Trpfs	NC_000002.11:g.189867769dupC	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2553+1delG (p.Gly816_Ala851del)	1281	COL3A1	Pathogenic	587779514	RCV000087451;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189867789	189867789	NM_000090.3:c.2553+1delG	NP_000081.1:p.Gly816_Ala851del	NC_000002.11:g.189867789delG	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00305	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2553+1G>A (p.Gly816_Ala851del)	1281	COL3A1	Pathogenic	587779664	RCV000087651;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189867789	189867789	NM_000090.3:c.2553+1G>A	NP_000081.1:p.Gly816_Ala851del	NC_000002.11:g.189867789G>A,NC_000002.11:g.189867789G>C	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00318	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2553+1G>C (p.Gly816_Ala851del)	1281	COL3A1	Pathogenic	587779664	RCV000087718;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189867789	189867789	NM_000090.3:c.2553+1G>C	NP_000081.1:p.Gly816_Ala851del	NC_000002.11:g.189867789G>A,NC_000002.11:g.189867789G>C	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2553+2T>C (p.Gly816_Ala851del)	1281	COL3A1	Pathogenic	587779684	RCV000087681;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189867790	189867790	NM_000090.3:c.2553+2T>C	NP_000081.1:p.Gly816_Ala851del	NC_000002.11:g.189867790T>C	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00153	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2553+3A>T (p.Gly816_Ala851del)	1281	COL3A1	Pathogenic	587779713	RCV000087721;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189867791	189867791	NM_000090.3:c.2553+3A>T	NP_000081.1:p.Gly816_Ala851del	NC_000002.11:g.189867791A>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2553+5G>T	1281	COL3A1	Pathogenic	397509371	RCV000018746;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189867793	189867793	NM_000090.3:c.2553+5G>T		NC_000002.11:g.189867793G>T	OMIM Allelic Variant:120180.0008	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2554-1G>A (p.Gly852Valfs*384)	1281	COL3A1	Pathogenic	587779519	RCV000087456;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189868136	189868136	NM_000090.3:c.2554-1G>A	NP_000081.1:p.Gly852Valfs*384	NC_000002.11:g.189868136G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00245	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2554G>T (p.Gly852Cys)	1281	COL3A1	Pathogenic	587779690	RCV000087688;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189868137	189868137	NM_000090.3:c.2554G>T	NP_000081.1:p.Gly852Cys	NC_000002.11:g.189868137G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00068	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2555G>A (p.Gly852Asp)	1281	COL3A1	Pathogenic	587779494	RCV000087427;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189868138	189868138	NM_000090.3:c.2555G>A	NP_000081.1:p.Gly852Asp	NC_000002.11:g.189868138G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2564G>A (p.Gly855Asp)	1281	COL3A1	Pathogenic	587779466	RCV000087395;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189868147	189868147	NM_000090.3:c.2564G>A	NP_000081.1:p.Gly855Asp	NC_000002.11:g.189868147G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00215	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2573G>T (p.Gly858Val)	1281	COL3A1	Pathogenic	587779717	RCV000087727;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189868156	189868156	NM_000090.3:c.2573G>T	NP_000081.1:p.Gly858Val	NC_000002.11:g.189868156G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2600G>A (p.Gly867Asp)	1281	COL3A1	Pathogenic	587779417	RCV000087339;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189868183	189868183	NM_000090.3:c.2600G>A	NP_000081.1:p.Gly867Asp	NC_000002.11:g.189868183G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2607+5G>T (p.Gly852_Pro869del)	1281	COL3A1	Pathogenic	587779457	RCV000087386;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189868195	189868195	NM_000090.3:c.2607+5G>T	NP_000081.1:p.Gly852_Pro869del	NC_000002.11:g.189868195G>A,NC_000002.11:g.189868195G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1-00155	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2607+5G>A (p.Gly852_Pro869del)	1281	COL3A1	Pathogenic	587779457	RCV000087647;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189868195	189868195	NM_000090.3:c.2607+5G>A	NP_000081.1:p.Gly852_Pro869del	NC_000002.11:g.189868195G>A,NC_000002.11:g.189868195G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1-00154	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2636G>T (p.Gly879Val)	1281	COL3A1	Pathogenic	587779645	RCV000087617;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189868488	189868488	NM_000090.3:c.2636G>T	NP_000081.1:p.Gly879Val	NC_000002.11:g.189868488G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00069	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2645G>A (p.Gly882Asp)	1281	COL3A1	Pathogenic	587779622	RCV000087583;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189868497	189868497	NM_000090.3:c.2645G>A	NP_000081.1:p.Gly882Asp	NC_000002.11:g.189868497G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00070	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2655_2661+7delinsGACCTGAGAC (p.Ser886Thrfs*2)	1281	COL3A1	Pathogenic	587779590	RCV000087542;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189868507	189868520	NM_000090.3:c.2655_2661+7delinsGACCTGAGAC	NP_000081.1:p.Ser886Thrfs*2	NC_000002.11:g.189868507_189868520delTAGTAATGTAAGTAinsGACCTGAGAC	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00238	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2681G>C (p.Gly894Ala)	1281	COL3A1	Pathogenic	587779589	RCV000087541;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189868727	189868727	NM_000090.3:c.2681G>C	NP_000081.1:p.Gly894Ala	NC_000002.11:g.189868727G>C	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2699G>A (p.Gly900Asp)	1281	COL3A1	Pathogenic	587779599	RCV000087551;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189868745	189868745	NM_000090.3:c.2699G>A	NP_000081.1:p.Gly900Asp	NC_000002.11:g.189868745G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00072	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2708G>A (p.Gly903Glu)	1281	COL3A1	Pathogenic	587779505	RCV000087440;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189868754	189868754	NM_000090.3:c.2708G>A	NP_000081.1:p.Gly903Glu	NC_000002.11:g.189868754G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00073	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2726G>T (p.Gly909Val)	1281	COL3A1	Pathogenic	587779483	RCV000087415;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189868772	189868772	NM_000090.3:c.2726G>T	NP_000081.1:p.Gly909Val	NC_000002.11:g.189868772G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00075	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2735G>A (p.Gly912Asp)	1281	COL3A1	Pathogenic	587779716	RCV000087725;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189868781	189868781	NM_000090.3:c.2735G>A	NP_000081.1:p.Gly912Asp	NC_000002.11:g.189868781G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00295	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2753G>A (p.Gly918Glu)	1281	COL3A1	Pathogenic	587779662	RCV000087645;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189868799	189868799	NM_000090.3:c.2753G>A	NP_000081.1:p.Gly918Glu	NC_000002.11:g.189868799G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00295	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2770G>T (p.Gly924Cys)	1281	COL3A1	Pathogenic	587779471	RCV000087402;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189868816	189868816	NM_000090.3:c.2770G>T	NP_000081.1:p.Gly924Cys	NC_000002.11:g.189868816G>A,NC_000002.11:g.189868816G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00080	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2770G>A (p.Gly924Ser)	1281	COL3A1	Pathogenic	587779471	RCV000087554;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189868816	189868816	NM_000090.3:c.2770G>A	NP_000081.1:p.Gly924Ser	NC_000002.11:g.189868816G>A,NC_000002.11:g.189868816G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2771G>A (p.Gly924Asp)	1281	COL3A1	Pathogenic	587779450	RCV000087376;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189868817	189868817	NM_000090.3:c.2771G>A	NP_000081.1:p.Gly924Asp	NC_000002.11:g.189868817G>A,NC_000002.11:g.189868817G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2771G>T (p.Gly924Val)	1281	COL3A1	Pathogenic	587779450	RCV000087508;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189868817	189868817	NM_000090.3:c.2771G>T	NP_000081.1:p.Gly924Val	NC_000002.11:g.189868817G>A,NC_000002.11:g.189868817G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2780G>A (p.Gly927Asp)	1281	COL3A1	Pathogenic	587779432	RCV000087356;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189868826	189868826	NM_000090.3:c.2780G>A	NP_000081.1:p.Gly927Asp	NC_000002.11:g.189868826G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2806G>C (p.Gly936Arg)	1281	COL3A1	Pathogenic	587779566	RCV000087515;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189868852	189868852	NM_000090.3:c.2806G>C	NP_000081.1:p.Gly936Arg	NC_000002.11:g.189868852G>C	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00081	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2815G>T (p.Gly939Cys)	1281	COL3A1	Pathogenic	587779550	RCV000087491;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189868861	189868861	NM_000090.3:c.2815G>T	NP_000081.1:p.Gly939Cys	NC_000002.11:g.189868861G>A,NC_000002.11:g.189868861G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2815G>A (p.Gly939Ser)	1281	COL3A1	Pathogenic	587779550	RCV000087711;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189868861	189868861	NM_000090.3:c.2815G>A	NP_000081.1:p.Gly939Ser	NC_000002.11:g.189868861G>A,NC_000002.11:g.189868861G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2823+1G>A (p.Gly942Valfs*28)	1281	COL3A1	Pathogenic	587779424	RCV000087347;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189868870	189868870	NM_000090.3:c.2823+1G>A	NP_000081.1:p.Gly942Valfs*28	NC_000002.11:g.189868870G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00239	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2824-1G>A (p.Gly942Glufs*294)	1281	COL3A1	Pathogenic	587779617	RCV000087575;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189868982	189868982	NM_000090.3:c.2824-1G>A	NP_000081.1:p.Gly942Glufs*294	NC_000002.11:g.189868982G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00246	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2824G>A (p.Gly942Arg)	1281	COL3A1	Pathogenic	587779438	RCV000087362;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189868983	189868983	NM_000090.3:c.2824G>A	NP_000081.1:p.Gly942Arg	NC_000002.11:g.189868983G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2825G>A (p.Gly942Glu)	1281	COL3A1	Pathogenic	587779517	RCV000087454;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189868984	189868984	NM_000090.3:c.2825G>A	NP_000081.1:p.Gly942Glu	NC_000002.11:g.189868984G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00084	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2833G>A (p.Gly945Ser)	1281	COL3A1	Pathogenic	587779567	RCV000087516;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189868992	189868992	NM_000090.3:c.2833G>A	NP_000081.1:p.Gly945Ser	NC_000002.11:g.189868992G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2842G>A (p.Gly948Arg)	1281	COL3A1	Pathogenic	587779447	RCV000087373;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189869001	189869001	NM_000090.3:c.2842G>A	NP_000081.1:p.Gly948Arg	NC_000002.11:g.189869001G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2860G>A (p.Gly954Arg)	1281	COL3A1	Pathogenic	587779674	RCV000087669;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189869019	189869019	NM_000090.3:c.2860G>A	NP_000081.1:p.Gly954Arg	NC_000002.11:g.189869019G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2861G>A (p.Gly954Glu)	1281	COL3A1	Pathogenic	587779434	RCV000087358;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189869020	189869020	NM_000090.3:c.2861G>A	NP_000081.1:p.Gly954Glu	NC_000002.11:g.189869020G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2869G>T (p.Gly957Cys)	1281	COL3A1	Pathogenic	121912913	RCV000087396;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189869028	189869028	NM_000090.3:c.2869G>T	NP_000081.1:p.Gly957Cys	NC_000002.11:g.189869028G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2870G>A (p.Gly957Asp)	1281	COL3A1	Pathogenic	587779654	RCV000087635;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189869029	189869029	NM_000090.3:c.2870G>A	NP_000081.1:p.Gly957Asp	NC_000002.11:g.189869029G>A,NC_000002.11:g.189869029G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2870G>T (p.Gly957Val)	1281	COL3A1	Pathogenic	587779654	RCV000087684;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189869029	189869029	NM_000090.3:c.2870G>T	NP_000081.1:p.Gly957Val	NC_000002.11:g.189869029G>A,NC_000002.11:g.189869029G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2879G>T (p.Gly960Val)	1281	COL3A1	Pathogenic	121912922	RCV000018764;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189869038	189869038	NM_000090.3:c.2879G>T	NP_000081.1:p.Gly960Val	NC_000002.11:g.189869038G>T	OMIM Allelic Variant:120180.0023	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2887G>T (p.Gly963Cys)	1281	COL3A1	Pathogenic	587779640	RCV000087610;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189869046	189869046	NM_000090.3:c.2887G>T	NP_000081.1:p.Gly963Cys	NC_000002.11:g.189869046G>C,NC_000002.11:g.189869046G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2887G>C (p.Gly963Arg)	1281	COL3A1	Pathogenic	587779640	RCV000087649;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189869046	189869046	NM_000090.3:c.2887G>C	NP_000081.1:p.Gly963Arg	NC_000002.11:g.189869046G>C,NC_000002.11:g.189869046G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2888G>A (p.Gly963Asp)	1281	COL3A1	Pathogenic	587779511	RCV000087447;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189869047	189869047	NM_000090.3:c.2888G>A	NP_000081.1:p.Gly963Asp	NC_000002.11:g.189869047G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2897G>T (p.Gly966Val)	1281	COL3A1	Pathogenic	587779571	RCV000087520;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189869056	189869056	NM_000090.3:c.2897G>T	NP_000081.1:p.Gly966Val	NC_000002.11:g.189869056G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00087	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2905G>A (p.Gly969Arg)	1281	COL3A1	Pathogenic	587779580	RCV000087529;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189869064	189869064	NM_000090.3:c.2905G>A	NP_000081.1:p.Gly969Arg	NC_000002.11:g.189869064G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2914G>A (p.Gly972Ser)	1281	COL3A1	Pathogenic	587779723	RCV000087735;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189869073	189869073	NM_000090.3:c.2914G>A	NP_000081.1:p.Gly972Ser	NC_000002.11:g.189869073G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2915G>A (p.Gly972Asp)	1281	COL3A1	Pathogenic	587779559	RCV000087502;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189869074	189869074	NM_000090.3:c.2915G>A	NP_000081.1:p.Gly972Asp	NC_000002.11:g.189869074G>A,NC_000002.11:g.189869074G>C	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2915G>C (p.Gly972Ala)	1281	COL3A1	Pathogenic	587779559	RCV000087564;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189869074	189869074	NM_000090.3:c.2915G>C	NP_000081.1:p.Gly972Ala	NC_000002.11:g.189869074G>A,NC_000002.11:g.189869074G>C	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00088	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2924G>T (p.Gly975Val)	1281	COL3A1	Pathogenic	587779542	RCV000087483;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189869083	189869083	NM_000090.3:c.2924G>T	NP_000081.1:p.Gly975Val	NC_000002.11:g.189869083G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00311	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2931+1G>A (p.Gly942_Lys977del)	1281	COL3A1	Pathogenic	397509373	RCV000018753;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189869091	189869091	NM_000090.3:c.2931+1G>A	NP_000081.1:p.Gly942_Lys977del	NC_000002.11:g.189869091G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00156,OMIM Allelic Variant:120180.0012	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2933G>A (p.Gly978Asp)	1281	COL3A1	Pathogenic	587779595	RCV000087547;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189870077	189870077	NM_000090.3:c.2933G>A	NP_000081.1:p.Gly978Asp	NC_000002.11:g.189870077G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2935G>T (p.Glu979Ter)	1281	COL3A1	Pathogenic	587779488	RCV000087421;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189870079	189870079	NM_000090.3:c.2935G>T	NP_000081.1:p.Glu979Ter	NC_000002.11:g.189870079G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00240	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2941G>C (p.Gly981Arg)	1281	COL3A1	Pathogenic	587779449	RCV000087375;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189870085	189870085	NM_000090.3:c.2941G>C	NP_000081.1:p.Gly981Arg	NC_000002.11:g.189870085G>A,NC_000002.11:g.189870085G>C	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2941G>A (p.Gly981Arg)	1281	COL3A1	Pathogenic	587779449	RCV000087384;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189870085	189870085	NM_000090.3:c.2941G>A	NP_000081.1:p.Gly981Arg	NC_000002.11:g.189870085G>A,NC_000002.11:g.189870085G>C	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2959G>A (p.Gly987Ser)	1281	COL3A1	Likely pathogenic;Pathogenic	587779583	RCV000087534; RCV000181102;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000; MedGen:CN118826, Orphanet:ORPHA91387	2	189870103	189870103	NM_000090.3:c.2959G>A	NP_000081.1:p.Gly987Ser	NC_000002.11:g.189870103G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00327	C0268338 130050 Ehlers-Danlos syndrome, type 4; CN118826 Thoracic aortic aneurysm and aortic dissection
NM_000090.3(COL3A1):c.2977G>T (p.Gly993Cys)	1281	COL3A1	Pathogenic	587779416	RCV000087338;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189870121	189870121	NM_000090.3:c.2977G>T	NP_000081.1:p.Gly993Cys	NC_000002.11:g.189870121G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2978G>A (p.Gly993Asp)	1281	COL3A1	Pathogenic	587779456	RCV000087385;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189870122	189870122	NM_000090.3:c.2978G>A	NP_000081.1:p.Gly993Asp	NC_000002.11:g.189870122G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2987G>A (p.Gly996Glu)	1281	COL3A1	Pathogenic	587779576	RCV000087525;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189870131	189870131	NM_000090.3:c.2987G>A	NP_000081.1:p.Gly996Glu	NC_000002.11:g.189870131G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00091	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2995G>C (p.Gly999Arg)	1281	COL3A1	Pathogenic	587779548	RCV000087489;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189870139	189870139	NM_000090.3:c.2995G>C	NP_000081.1:p.Gly999Arg	NC_000002.11:g.189870139G>A,NC_000002.11:g.189870139G>C	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00092	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.2995G>A (p.Gly999Ser)	1281	COL3A1	Pathogenic	587779548	RCV000087624;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189870139	189870139	NM_000090.3:c.2995G>A	NP_000081.1:p.Gly999Ser	NC_000002.11:g.189870139G>A,NC_000002.11:g.189870139G>C	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3023G>A (p.Gly1008Asp)	1281	COL3A1	Pathogenic	587779659	RCV000087641;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189870167	189870167	NM_000090.3:c.3023G>A	NP_000081.1:p.Gly1008Asp	NC_000002.11:g.189870167G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3032G>A (p.Gly1011Glu)	1281	COL3A1	Pathogenic	587779552	RCV000087493;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189870176	189870176	NM_000090.3:c.3032G>A	NP_000081.1:p.Gly1011Glu	NC_000002.11:g.189870176G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00093	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3039+1G>A (p.Asp1013_Gly1014insMSSSFYSTSQ)	1281	COL3A1	Pathogenic	587779506	RCV000087441;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189870184	189870184	NM_000090.3:c.3039+1G>A	NP_000081.1:p.Asp1013_Gly1014insMSSSFYSTSQ	NC_000002.11:g.189870184G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00167	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3039+5G>A (p.Asp1013_Gly1014insVNSSFYSTSQ)	1281	COL3A1	Pathogenic	587779568	RCV000087517;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189870188	189870188	NM_000090.3:c.3039+5G>A	NP_000081.1:p.Asp1013_Gly1014insVNSSFYSTSQ	NC_000002.11:g.189870188G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00180	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3039+6T>C (p.Asp1013_Gly1014insVSSSFYSTSQ)	1281	COL3A1	Pathogenic	587779532	RCV000087472;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189870189	189870189	NM_000090.3:c.3039+6T>C	NP_000081.1:p.Asp1013_Gly1014insVSSSFYSTSQ	NC_000002.11:g.189870189T>C	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3041G>A (p.Gly1014Glu)	1281	COL3A1	Pathogenic	121912916	RCV000018755;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189870933	189870933	NM_000090.3:c.3041G>A	NP_000081.1:p.Gly1014Glu	NC_000002.11:g.189870933G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00094,OMIM Allelic Variant:120180.0014	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3061_3063delCTT (p.Leu1021del)	1281	COL3A1	Pathogenic	587779529	RCV000087468;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189870953	189870955	NM_000090.3:c.3061_3063delCTT	NP_000081.1:p.Leu1021del	NC_000002.11:g.189870953_189870955delCTT	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3070C>T (p.Arg1024Ter)	1281	COL3A1	Pathogenic	587779479	RCV000087411;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189870962	189870962	NM_000090.3:c.3070C>T	NP_000081.1:p.Arg1024Ter	NC_000002.11:g.189870962C>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00241	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3093+1G>A	1281	COL3A1	Pathogenic	869312034	RCV000018744;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189870986	189870986	NM_000090.3:c.3093+1G>A		NC_000002.11:g.189870986G>A	OMIM Allelic Variant:120180.0006	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3093+2T>C (p.Gly1014_Lys1031del)	1281	COL3A1	Pathogenic	587779503	RCV000087438;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189870987	189870987	NM_000090.3:c.3093+2T>C	NP_000081.1:p.Gly1014_Lys1031del	NC_000002.11:g.189870987T>C,NC_000002.11:g.189870987T>G	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00157	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3093+2T>G (p.Gly1014_Lys1031del)	1281	COL3A1	Pathogenic	587779503	RCV000087658;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189870987	189870987	NM_000090.3:c.3093+2T>G	NP_000081.1:p.Gly1014_Lys1031del	NC_000002.11:g.189870987T>C,NC_000002.11:g.189870987T>G	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00157	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3095G>T (p.Gly1032Val)	1281	COL3A1	Pathogenic	587779428	RCV000087351;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189871072	189871072	NM_000090.3:c.3095G>T	NP_000081.1:p.Gly1032Val	NC_000002.11:g.189871072G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00095	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3103G>T (p.Gly1035Cys)	1281	COL3A1	Pathogenic	587779704	RCV000087706;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189871080	189871080	NM_000090.3:c.3103G>T	NP_000081.1:p.Gly1035Cys	NC_000002.11:g.189871080G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00096	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3104G>T (p.Gly1035Val)	1281	COL3A1	Pathogenic	587779582	RCV000087532;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189871081	189871081	NM_000090.3:c.3104G>T	NP_000081.1:p.Gly1035Val	NC_000002.11:g.189871081G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3122G>T (p.Gly1041Val)	1281	COL3A1	Pathogenic	587779491	RCV000087424;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189871099	189871099	NM_000090.3:c.3122G>T	NP_000081.1:p.Gly1041Val	NC_000002.11:g.189871099G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3133G>A (p.Ala1045Thr)	1281	COL3A1	Likely benign;Uncertain significance	149722210	RCV000210893; RCV000178514;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000; MedGen:CN169374	2	189871110	189871110	NM_000090.3:c.3133G>A	NP_000081.1:p.Ala1045Thr	NC_000002.11:g.189871110G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4; CN169374 not specified
NM_000090.3(COL3A1):c.3140G>A (p.Gly1047Asp)	1281	COL3A1	Pathogenic	587779545	RCV000087486;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189871117	189871117	NM_000090.3:c.3140G>A	NP_000081.1:p.Gly1047Asp	NC_000002.11:g.189871117G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3149G>A (p.Gly1050Asp)	1281	COL3A1	Pathogenic	121912914	RCV000018741;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189871126	189871126	NM_000090.3:c.3149G>A	NP_000081.1:p.Gly1050Asp	NC_000002.11:g.189871126G>A,NC_000002.11:g.189871126G>T	OMIM Allelic Variant:120180.0003	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3149G>T (p.Gly1050Val)	1281	COL3A1	Pathogenic	121912914	RCV000018771;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189871126	189871126	NM_000090.3:c.3149G>T	NP_000081.1:p.Gly1050Val	NC_000002.11:g.189871126G>A,NC_000002.11:g.189871126G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00099,OMIM Allelic Variant:120180.0033	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3157G>C (p.Gly1053Arg)	1281	COL3A1	Pathogenic	587779651	RCV000087627;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189871134	189871134	NM_000090.3:c.3157G>C	NP_000081.1:p.Gly1053Arg	NC_000002.11:g.189871134G>C	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3167G>A (p.Gly1056Asp)	1281	COL3A1	Pathogenic	587779540	RCV000087481;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189871144	189871144	NM_000090.3:c.3167G>A	NP_000081.1:p.Gly1056Asp	NC_000002.11:g.189871144G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3176G>T (p.Gly1059Val)	1281	COL3A1	Pathogenic	587779619	RCV000087579;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189871153	189871153	NM_000090.3:c.3176G>T	NP_000081.1:p.Gly1059Val	NC_000002.11:g.189871153G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3193G>A (p.Gly1065Arg)	1281	COL3A1	Pathogenic	587779563	RCV000087511;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189871170	189871170	NM_000090.3:c.3193G>A	NP_000081.1:p.Gly1065Arg	NC_000002.11:g.189871170G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3202-2A>G (p.Gly1068_Pro1085del)	1281	COL3A1	Pathogenic	587779682	RCV000087678;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189871661	189871661	NM_000090.3:c.3202-2A>G	NP_000081.1:p.Gly1068_Pro1085del	NC_000002.11:g.189871661A>G	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00178	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3203G>T (p.Gly1068Val)	1281	COL3A1	Pathogenic	587779551	RCV000087492;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189871664	189871664	NM_000090.3:c.3203G>T	NP_000081.1:p.Gly1068Val	NC_000002.11:g.189871664G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3212G>T (p.Gly1071Val)	1281	COL3A1	Likely pathogenic;Pathogenic	587779709	RCV000087715;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189871673	189871673	NM_000090.3:c.3212G>T	NP_000081.1:p.Gly1071Val	NC_000002.11:g.189871673G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00100	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3220G>A (p.Gly1074Ser)	1281	COL3A1	Pathogenic	587779554	RCV000087495;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189871681	189871681	NM_000090.3:c.3220G>A	NP_000081.1:p.Gly1074Ser	NC_000002.11:g.189871681G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3223_3240del18 (p.Ala1075_Gly1080del)	1281	COL3A1	Pathogenic	587779509	RCV000087444;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189871684	189871701	NM_000090.3:c.3223_3240del18	NP_000081.1:p.Ala1075_Gly1080del	NC_000002.11:g.189871684_189871701del18	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3230G>T (p.Gly1077Val)	1281	COL3A1	Pathogenic	121912915	RCV000018749;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189871691	189871691	NM_000090.3:c.3230G>T	NP_000081.1:p.Gly1077Val	NC_000002.11:g.189871691G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00101,OMIM Allelic Variant:120180.0010	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3239G>A (p.Gly1080Asp)	1281	COL3A1	Pathogenic	587779469	RCV000087399;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189871700	189871700	NM_000090.3:c.3239G>A	NP_000081.1:p.Gly1080Asp	NC_000002.11:g.189871700G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3255+1G>A (p.Gly1068_Pro1085del)	1281	COL3A1	Pathogenic	587779480	RCV000087412;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189871717	189871717	NM_000090.3:c.3255+1G>A	NP_000081.1:p.Gly1068_Pro1085del	NC_000002.11:g.189871717G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00159	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3255+5G>A (p.Gly1068_Pro1085del)	1281	COL3A1	Pathogenic	587779501	RCV000087435;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189871721	189871721	NM_000090.3:c.3255+5G>A	NP_000081.1:p.Gly1068_Pro1085del	NC_000002.11:g.189871721G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00158	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3256-43T>G (p.Pro1085_Gly1086insVCVYMTSIQNMFLK)	1281	COL3A1	Pathogenic	587779667	RCV000087655;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189872183	189872183	NM_000090.3:c.3256-43T>G	NP_000081.1:p.Pro1085_Gly1086insVCVYMTSIQNMFLK	NC_000002.11:g.189872183T>G	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3266G>A (p.Gly1089Asp)	1281	COL3A1	Pathogenic	587779672	RCV000087667;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189872236	189872236	NM_000090.3:c.3266G>A	NP_000081.1:p.Gly1089Asp	NC_000002.11:g.189872236G>A,NC_000002.11:g.189872236G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00102	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3275G>T (p.Gly1092Val)	1281	COL3A1	Pathogenic	587779666	RCV000087654;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189872245	189872245	NM_000090.3:c.3275G>T	NP_000081.1:p.Gly1092Val	NC_000002.11:g.189872245G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3284G>A (p.Gly1095Asp)	1281	COL3A1	Pathogenic	587779610	RCV000087566;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189872254	189872254	NM_000090.3:c.3284G>A	NP_000081.1:p.Gly1095Asp	NC_000002.11:g.189872254G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3293G>T (p.Gly1098Val)	1281	COL3A1	Pathogenic	587779614	RCV000087572;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189872263	189872263	NM_000090.3:c.3293G>T	NP_000081.1:p.Gly1098Val	NC_000002.11:g.189872263G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00104	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3301G>A (p.Gly1101Arg)	1281	COL3A1	Pathogenic	587779439	RCV000087363;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189872271	189872271	NM_000090.3:c.3301G>A	NP_000081.1:p.Gly1101Arg	NC_000002.11:g.189872271G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3302G>A (p.Gly1101Glu)	1281	COL3A1	Pathogenic	121912924	RCV000018766;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189872272	189872272	NM_000090.3:c.3302G>A	NP_000081.1:p.Gly1101Glu	NC_000002.11:g.189872272G>A	OMIM Allelic Variant:120180.0025	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3319G>A (p.Gly1107Arg)	1281	COL3A1	Pathogenic	587779561	RCV000087504;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189872289	189872289	NM_000090.3:c.3319G>A	NP_000081.1:p.Gly1107Arg	NC_000002.11:g.189872289G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3325C>T (p.Arg1109Ter)	1281	COL3A1	Pathogenic	112371422	RCV000087665;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189872295	189872295	NM_000090.3:c.3325C>T	NP_000081.1:p.Arg1109Ter	NC_000002.11:g.189872295C>G,NC_000002.11:g.189872295C>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3347G>T (p.Gly1116Val)	1281	COL3A1	Pathogenic	587779445	RCV000087370;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189872317	189872317	NM_000090.3:c.3347G>T	NP_000081.1:p.Gly1116Val	NC_000002.11:g.189872317G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3356G>A (p.Gly1119Asp)	1281	COL3A1	Pathogenic	587779639	RCV000087609;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189872326	189872326	NM_000090.3:c.3356G>A	NP_000081.1:p.Gly1119Asp	NC_000002.11:g.189872326G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3364-2A>C (p.Gly1122_Arg1139del)	1281	COL3A1	Pathogenic	587779546	RCV000087487;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189872609	189872609	NM_000090.3:c.3364-2A>C	NP_000081.1:p.Gly1122_Arg1139del	NC_000002.11:g.189872609A>C	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00282	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3391G>A (p.Gly1131Ser)	1281	COL3A1	Pathogenic	587779536	RCV000087476;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189872638	189872638	NM_000090.3:c.3391G>A	NP_000081.1:p.Gly1131Ser	NC_000002.11:g.189872638G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3410G>A (p.Gly1137Asp)	1281	COL3A1	Pathogenic	587779720	RCV000087732;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189872657	189872657	NM_000090.3:c.3410G>A	NP_000081.1:p.Gly1137Asp	NC_000002.11:g.189872657G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3417+1G>A (p.Gly1122_Arg1139del+)	1281	COL3A1	Pathogenic	587779444	RCV000087369;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189872665	189872665	NM_000090.3:c.3417+1G>A	NP_000081.1:p.Gly1122_Arg1139del+	NC_000002.11:g.189872665G>A,NC_000002.11:g.189872665G>C,NC_000002.11:g.189872665	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00272	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3417+1G>C (p.Gly1122_Arg1139del+)	1281	COL3A1	Pathogenic	587779444	RCV000087618;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189872665	189872665	NM_000090.3:c.3417+1G>C	NP_000081.1:p.Gly1122_Arg1139del+	NC_000002.11:g.189872665G>A,NC_000002.11:g.189872665G>C,NC_000002.11:g.189872665	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3417+1G>T (p.Gly1122_Arg1139del+)	1281	COL3A1	Pathogenic	587779444	RCV000087719;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189872665	189872665	NM_000090.3:c.3417+1G>T	NP_000081.1:p.Gly1122_Arg1139del+	NC_000002.11:g.189872665G>A,NC_000002.11:g.189872665G>C,NC_000002.11:g.189872665	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3417+5G>A (p.Gly1122_Arg1139del+)	1281	COL3A1	Pathogenic	587779448	RCV000087374;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189872669	189872669	NM_000090.3:c.3417+5G>A	NP_000081.1:p.Gly1122_Arg1139del+	NC_000002.11:g.189872669G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00288	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3418-2A>T (p.Arg1139_Gly1140insVSSTERYYRSTCFRCLHFRKIFWHCDVMILSL)	1281	COL3A1	Pathogenic	587779502	RCV000087437;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189872759	189872759	NM_000090.3:c.3418-2A>T	NP_000081.1:p.Arg1139_Gly1140insVSSTERYYRSTCFRCLHFRKIFWHCDVMILSL	NC_000002.11:g.189872759A>G,NC_000002.11:g.189872759A>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3418-2A>G (p.Arg1139_Gly1140insVSSTERYYRSTCFRCLHFRKIFWHCDVMILSW)	1281	COL3A1	Pathogenic	587779502	RCV000087660;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189872759	189872759	NM_000090.3:c.3418-2A>G	NP_000081.1:p.Arg1139_Gly1140insVSSTERYYRSTCFRCLHFRKIFWHCDVMILSW	NC_000002.11:g.189872759A>G,NC_000002.11:g.189872759A>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3418-1G>T (p.Arg1139_Gly1140insVSSTERYYRSTCFRCLHFRKIFWHCDVMILSY)	1281	COL3A1	Pathogenic	587779562	RCV000087510;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189872760	189872760	NM_000090.3:c.3418-1G>T	NP_000081.1:p.Arg1139_Gly1140insVSSTERYYRSTCFRCLHFRKIFWHCDVMILSY	NC_000002.11:g.189872760G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3419G>A (p.Gly1140Glu)	1281	COL3A1	Pathogenic	587779648	RCV000087623;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189872762	189872762	NM_000090.3:c.3419G>A	NP_000081.1:p.Gly1140Glu	NC_000002.11:g.189872762G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3437G>A (p.Gly1146Glu)	1281	COL3A1	Pathogenic	587779495	RCV000087429;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189872780	189872780	NM_000090.3:c.3437G>A	NP_000081.1:p.Gly1146Glu	NC_000002.11:g.189872780G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3472G>C (p.Gly1158Arg)	1281	COL3A1	Pathogenic	587779715	RCV000087723;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189872815	189872815	NM_000090.3:c.3472G>C	NP_000081.1:p.Gly1158Arg	NC_000002.11:g.189872815G>C	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3473G>A (p.Gly1158Asp)	1281	COL3A1	Pathogenic	587779472	RCV000087403;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189872816	189872816	NM_000090.3:c.3473G>A	NP_000081.1:p.Gly1158Asp	NC_000002.11:g.189872816G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3482G>T (p.Gly1161Val)	1281	COL3A1	Pathogenic	587779473	RCV000087404;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189872825	189872825	NM_000090.3:c.3482G>T	NP_000081.1:p.Gly1161Val	NC_000002.11:g.189872825G>A,NC_000002.11:g.189872825G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00107	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3482G>A (p.Gly1161Glu)	1281	COL3A1	Pathogenic	587779473	RCV000087726;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189872825	189872825	NM_000090.3:c.3482G>A	NP_000081.1:p.Gly1161Glu	NC_000002.11:g.189872825G>A,NC_000002.11:g.189872825G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00324	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3490G>T (p.Gly1164Trp)	1281	COL3A1	Pathogenic	587779553	RCV000087494;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189872833	189872833	NM_000090.3:c.3490G>T	NP_000081.1:p.Gly1164Trp	NC_000002.11:g.189872833G>A,NC_000002.11:g.189872833G>C,NC_000002.11:g.189872833	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00109	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3490G>A (p.Gly1164Arg)	1281	COL3A1	Pathogenic	587779553	RCV000087640;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189872833	189872833	NM_000090.3:c.3490G>A	NP_000081.1:p.Gly1164Arg	NC_000002.11:g.189872833G>A,NC_000002.11:g.189872833G>C,NC_000002.11:g.189872833	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00108	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3490G>C (p.Gly1164Arg)	1281	COL3A1	Pathogenic	587779553	RCV000087704;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189872833	189872833	NM_000090.3:c.3490G>C	NP_000081.1:p.Gly1164Arg	NC_000002.11:g.189872833G>A,NC_000002.11:g.189872833G>C,NC_000002.11:g.189872833	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3491G>A (p.Gly1164Glu)	1281	COL3A1	Pathogenic	587779431	RCV000087355;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189872834	189872834	NM_000090.3:c.3491G>A	NP_000081.1:p.Gly1164Glu	NC_000002.11:g.189872834G>A,NC_000002.11:g.189872834G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00110	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3491G>T (p.Gly1164Val)	1281	COL3A1	Pathogenic	587779431	RCV000087401;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189872834	189872834	NM_000090.3:c.3491G>T	NP_000081.1:p.Gly1164Val	NC_000002.11:g.189872834G>A,NC_000002.11:g.189872834G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3496C>T (p.Arg1166Ter)	1281	COL3A1	Pathogenic	587779646	RCV000087620;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189872839	189872839	NM_000090.3:c.3496C>T	NP_000081.1:p.Arg1166Ter	NC_000002.11:g.189872839C>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00242 and COL3A1_00243	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3499G>C (p.Gly1167Arg)	1281	COL3A1	Pathogenic	587779609	RCV000087565;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189872842	189872842	NM_000090.3:c.3499G>C	NP_000081.1:p.Gly1167Arg	NC_000002.11:g.189872842G>C,NC_000002.11:g.189872842G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3499G>T (p.Gly1167Cys)	1281	COL3A1	Pathogenic	587779609	RCV000087700;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189872842	189872842	NM_000090.3:c.3499G>T	NP_000081.1:p.Gly1167Cys	NC_000002.11:g.189872842G>C,NC_000002.11:g.189872842G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00299	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3500G>T (p.Gly1167Val)	1281	COL3A1	Pathogenic	587779578	RCV000087527;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189872843	189872843	NM_000090.3:c.3500G>T	NP_000081.1:p.Gly1167Val	NC_000002.11:g.189872843G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00111	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3508G>A (p.Gly1170Ser)	1281	COL3A1	Pathogenic	587779482	RCV000087414;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189872851	189872851	NM_000090.3:c.3508G>A	NP_000081.1:p.Gly1170Ser	NC_000002.11:g.189872851G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00273	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3509G>A (p.Gly1170Asp)	1281	COL3A1	Pathogenic	587779465	RCV000087394;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189872852	189872852	NM_000090.3:c.3509G>A	NP_000081.1:p.Gly1170Asp	NC_000002.11:g.189872852G>A,NC_000002.11:g.189872852G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00112	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3509G>T (p.Gly1170Val)	1281	COL3A1	Pathogenic	587779465	RCV000087436;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189872852	189872852	NM_000090.3:c.3509G>T	NP_000081.1:p.Gly1170Val	NC_000002.11:g.189872852G>A,NC_000002.11:g.189872852G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00113	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3517G>A (p.Gly1173Arg)	1281	COL3A1	Pathogenic	587779521	RCV000087458;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189872860	189872860	NM_000090.3:c.3517G>A	NP_000081.1:p.Gly1173Arg	NC_000002.11:g.189872860G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3518G>A (p.Gly1173Glu)	1281	COL3A1	Pathogenic	121912918	RCV000018757;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189872861	189872861	NM_000090.3:c.3518G>A	NP_000081.1:p.Gly1173Glu	NC_000002.11:g.189872861G>A,NC_000002.11:g.189872861G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00115,OMIM Allelic Variant:120180.0016	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3518G>T (p.Gly1173Val)	1281	COL3A1	Pathogenic	121912918	RCV000087613;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189872861	189872861	NM_000090.3:c.3518G>T	NP_000081.1:p.Gly1173Val	NC_000002.11:g.189872861G>A,NC_000002.11:g.189872861G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3527_3528delGCinsAA (p.Gly1176Glu)	1281	COL3A1	Pathogenic	587779669	RCV000087659;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189873651	189873652	NM_000090.3:c.3527_3528delGCinsAA	NP_000081.1:p.Gly1176Glu	NC_000002.11:g.189873651_189873652delGCinsAA	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3535G>C (p.Gly1179Arg)	1281	COL3A1	Pathogenic	587779574	RCV000087523;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189873659	189873659	NM_000090.3:c.3535G>C	NP_000081.1:p.Gly1179Arg	NC_000002.11:g.189873659G>C	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00118	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3536G>T (p.Gly1179Val)	1281	COL3A1	Pathogenic	587779627	RCV000087590;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189873660	189873660	NM_000090.3:c.3536G>T	NP_000081.1:p.Gly1179Val	NC_000002.11:g.189873660G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3544G>A (p.Gly1182Arg)	1281	COL3A1	Pathogenic	587779683	RCV000087679;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189873668	189873668	NM_000090.3:c.3544G>A	NP_000081.1:p.Gly1182Arg	NC_000002.11:g.189873668G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3545G>T (p.Gly1182Val)	1281	COL3A1	Pathogenic	111505097	RCV000087592;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189873669	189873669	NM_000090.3:c.3545G>T	NP_000081.1:p.Gly1182Val	NC_000002.11:g.189873669G>A,NC_000002.11:g.189873669G>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3545G>A (p.Gly1182Glu)	1281	COL3A1	Pathogenic	111505097	RCV000087619;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189873669	189873669	NM_000090.3:c.3545G>A	NP_000081.1:p.Gly1182Glu	NC_000002.11:g.189873669G>A,NC_000002.11:g.189873669G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00119	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3554G>A (p.Gly1185Asp)	1281	COL3A1	Pathogenic	121912917	RCV000018756;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189873678	189873678	NM_000090.3:c.3554G>A	NP_000081.1:p.Gly1185Asp	NC_000002.11:g.189873678G>A,NC_000002.11:g.189873678G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00120,OMIM Allelic Variant:120180.0015	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3554G>T (p.Gly1185Val)	1281	COL3A1	Pathogenic	121912917	RCV000087419;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189873678	189873678	NM_000090.3:c.3554G>T	NP_000081.1:p.Gly1185Val	NC_000002.11:g.189873678G>A,NC_000002.11:g.189873678G>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00121	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3562G>A (p.Gly1188Arg)	1281	COL3A1	Pathogenic	587779504	RCV000087439;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189873686	189873686	NM_000090.3:c.3562G>A	NP_000081.1:p.Gly1188Arg	NC_000002.11:g.189873686G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00122	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3563G>A (p.Gly1188Glu)	1281	COL3A1	Pathogenic	112456072	RCV000018758;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189873687	189873687	NM_000090.3:c.3563G>A	NP_000081.1:p.Gly1188Glu	NC_000002.11:g.189873687G>A	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00123,OMIM Allelic Variant:120180.0017	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3572G>A (p.Gly1191Asp)	1281	COL3A1	Pathogenic	587779703	RCV000087705;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189873696	189873696	NM_000090.3:c.3572G>A	NP_000081.1:p.Gly1191Asp	NC_000002.11:g.189873696G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3575_3576insAGGG (p.Pro1193Glyfs)	1281	COL3A1	Pathogenic	587779712	RCV000087720;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189873699	189873700	NM_000090.3:c.3575_3576insAGGG	NP_000081.1:p.Pro1193Glyfs	NC_000002.11:g.189873699_189873700insAGGG	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00244	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3626G>C (p.Gly1209Ala)	1281	COL3A1	Likely benign	374452484	RCV000210901;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189873750	189873750	NM_000090.3:c.3626G>C	NP_000081.1:p.Gly1209Ala	NC_000002.11:g.189873750G>C	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3818A>G (p.Lys1273Arg)	1281	COL3A1	Uncertain significance	144614075	RCV000204516; RCV000181112;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000; MedGen:CN118826, Orphanet:ORPHA91387	2	189873942	189873942	NM_000090.3:c.3818A>G	NP_000081.1:p.Lys1273Arg	NC_000002.11:g.189873942A>G	-	C0268338 130050 Ehlers-Danlos syndrome, type 4; CN118826 Thoracic aortic aneurysm and aortic dissection
NM_000090.3(COL3A1):c.3847C>T (p.Gln1283Ter)	1281	COL3A1	Pathogenic	587779467	RCV000087397;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189874927	189874927	NM_000090.3:c.3847C>T	NP_000081.1:p.Gln1283Ter	NC_000002.11:g.189874927C>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00247	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3851G>A (p.Gly1284Glu)	1281	COL3A1	Pathogenic	587779528	RCV000087466;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189874931	189874931	NM_000090.3:c.3851G>A	NP_000081.1:p.Gly1284Glu	NC_000002.11:g.189861915C>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3863A>T (p.Asp1288Val)	1281	COL3A1	Pathogenic	587779658	RCV000087639;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189874943	189874943	NM_000090.3:c.3863A>T	NP_000081.1:p.Asp1288Val	NC_000002.11:g.189874943A>T	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3938A>G (p.Lys1313Arg)	1281	COL3A1	Uncertain significance	111840783	RCV000148461; RCV000181114; RCV000157142;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000; MedGen:C2697932, Orphanet:ORPHA60030,SNOMED CT:446263001; MedGen:CN118826, Orphanet:ORPHA91387	2	189875018	189875018	NM_000090.3:c.3938A>G	NP_000081.1:p.Lys1313Arg	NC_000002.11:g.189875018A>G	-	C0268338 130050 Ehlers-Danlos syndrome, type 4; C2697932 Loeys-Dietz syndrome; CN118826 Thoracic aortic aneurysm and aortic dissection
NM_000090.3(COL3A1):c.3966delG (p.Lys1323Argfs)	1281	COL3A1	Pathogenic	587779490	RCV000087423;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189875046	189875046	NM_000090.3:c.3966delG	NP_000081.1:p.Lys1323Argfs	NC_000002.11:g.189875046delG	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.3989delA (p.Glu1330Glyfs)	1281	COL3A1	Pathogenic	587779647	RCV000087621;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189875069	189875069	NM_000090.3:c.3989delA	NP_000081.1:p.Glu1330Glyfs	NC_000002.11:g.189875069delA	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.4096C>T (p.Gln1366Ter)	1281	COL3A1	Likely pathogenic	863224860	RCV000195998;	N	MedGen:C0268337,OMIM:130020,ORPHA:285,SNOMED CT:30652003; MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189875458	189875458	NM_000090.3:c.4096C>T	NP_000081.1:p.Gln1366Ter	NC_000002.11:g.189875458C>T	-	C0268337 130020 Ehlers-Danlos syndrome, type 3; C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.4254G>A (p.Thr1418=)	1281	COL3A1	Pathogenic	587779565	RCV000087514;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189875616	189875616	NM_000090.3:c.4254G>A	NP_000081.1:p.Thr1418=	NC_000002.11:g.189875616G>A	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.4286_4287delTT (p.Phe1429Terfs)	1281	COL3A1	Pathogenic	587779719	RCV000087730;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189876385	189876386	NM_000090.3:c.4286_4287delTT	NP_000081.1:p.Phe1429Terfs	NC_000002.11:g.189876385_189876386delTT	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.4294C>T (p.Arg1432Ter)	1281	COL3A1	Pathogenic	587779585	RCV000087536;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189876393	189876393	NM_000090.3:c.4294C>T	NP_000081.1:p.Arg1432Ter	NC_000002.11:g.189876393C>T	Ehlers-Danlos Syndrome Variant Database COL3A1:COL3A1_00124	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_000090.3(COL3A1):c.4399T>C (p.Ter1467Gln)	1281	COL3A1	Pathogenic	587779618	RCV000087576;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	2	189876498	189876498	NM_000090.3:c.4399T>C	NP_000081.1:p.Ter1467Gln	NC_000002.11:g.189876498T>C	-	C0268338 130050 Ehlers-Danlos syndrome, type 4
NM_001999.3(FBN2):c.2065_2066delGCinsAA (p.Ala689Asn)	2201	FBN2	Uncertain significance	869025430	RCV000208462;	N	MedGen:C0268338,OMIM:130050,ORPHA:286,SNOMED CT:17025000	5	127710350	127710351	NM_001999.3:c.2065_2066delGCinsAA	NP_001990.2:p.Ala689Asn	NC_000005.9:g.127710350_127710351delGCinsTT	-	C0268338 130050 Ehlers-Danlos syndrome, type 4