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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: Abnormalities, Multiple (D000015)
Parent Node: Genetic Diseases, Inborn (D030342)
..Starting node ..CHARGE Syndrome (D058747)
Child Nodes:
Sister Nodes:
..ACTH Deficiency, Isolated (C562707)
..Adrenal Hyperplasia, Congenital (D000312) 12
..Adrenocortical Hypofunction, Chronic Primary Congenital (C562711)
..Alagille Syndrome (D016738)
..alpha 1-Antitrypsin Deficiency (D019896) 1
..Alpha-2-Deficient Collagen Disease (C565963)
..Anemia, Hemolytic, Congenital (D000745) 68
..Anemia, Hypoplastic, Congenital (D029502) 27
..Angioedemas, Hereditary (D054179) 2
..Ataxia Telangiectasia (D001260) 6
..Atrial Standstill (C563984)
..Autoimmune Lymphoproliferative Syndrome (D056735) 5
..Blood Coagulation Disorders, Inherited (D025861) 70
..Brugada Syndrome (D053840) 9
..CADASIL (D046589) 1
..Camurati-Engelmann Syndrome (D003966) 4
..Cardiomyopathy, Hypertrophic, Familial (D024741) 15
..Cerebral Palsy, Ataxic, Autosomal Recessive (C562856)
..CHARGE Syndrome (D058747)
..Cherubism (D002636) 2
..Chromosome Disorders (D025063) 160
..Cirrhosis, Familial (C566123)
..Complement Factor I Deficiency (C572568)
..Corticosteroid-Binding Globulin Deficiency (C565152)
..Costello Syndrome (D056685)
..Cryoglobulinemia, Familial Mixed (C565141)
..Cystic Fibrosis (D003550) 4
..Donohue Syndrome (D056731) 1
..Dwarfism (D004392) 155
..Epistaxis, Hereditary (C562751)
..Eye Diseases, Hereditary (D015785) 373
..Frasier Syndrome (D052159)
..Genetic Diseases, X-Linked (D040181) 412
..Genetic Diseases, Y-Linked (D050174) 5
..Hajdu-Cheney Syndrome (D031845) 1
..Hemoglobinopathies (D006453) 23
..Hepatic Fibrosis, Congenital (C562378)
..Hereditary Autoinflammatory Diseases (D056660) 10
..Hereditary Myopathy with Early Respiratory Failure (C566343)
..Heredodegenerative Disorders, Nervous System (D020271) 543
..Histiocytosis, Familial Lipochrome (C562738)
..Hyper-IgM Immunodeficiency Syndrome (D053306) 3
..Hyperthyroxinemia, Familial Dysalbuminemic (D050010) 1
..Interstitial Pneumonitis, Desquamative, Familial (C562470)
..Kallmann Syndrome (D017436) 9
..Kartagener Syndrome (D007619) 6
..Lennox Gastaut Syndrome (D065768) 1
..Loeys-Dietz Syndrome (D055947) 5
..Marfan Syndrome (D008382) 9
..Metabolism, Inborn Errors (D008661) 886
..Muscular Dystrophies (D009136) 117
..Myasthenic Syndromes, Congenital (D020294) 15
..Nail-Patella Syndrome (D009261) 1
..Neoplastic Syndromes, Hereditary (D009386) 111
..Neutropenia, Nonimmune Chronic Idiopathic, Adult (C564320)
..Osteoarthropathy, Primary Hypertrophic (D010004) 2
..Osteogenesis Imperfecta (D010013) 27
..Pain Insensitivity, Congenital (D000699) 2
..Parotidomegaly, Hereditary Bilateral (C566821)
..Pelger-Huet Anomaly (D010381)
..Platelet Glycoprotein IV Deficiency (C564245)
..Polycystic Kidney, Autosomal Recessive (D017044) 3
..Prolactin Deficiency, Isolated (C562708)
..Pulmonary Alveolar Microlithiasis (C562405)
..Pycnodysostosis (D058631)
..Rh Deficiency Syndrome (C562717)
..Skin Diseases, Genetic (D012873) 462
..Weill-Marchesani Syndrome (D056846)
..Werner Syndrome (D014898) 1
..Yellow Nail Syndrome (D056684) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2056

Name:

CHARGE Syndrome

Definition:

Rare disease characterized by COLOBOMA; CHOANAL ATRESIA; and abnormal SEMICIRCULAR CANALS. Mutations in CHD7 protein resulting in disturbed neural crest development are associated with CHARGE Syndrome.

Alternative IDs:

OMIM:214800

ParentIDs:

MESH:D000015|MESH:D030342

TreeNumbers:

C16.131.077.239 |C16.320.165

Synonyms:

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)

Reference:

MedGen: D058747
MeSH: D058747
OMIM: 214800;

Genes: CHD7; SEMA3E;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001018	Abnormal palmar dermatoglyphics
3	HP:0000772	Abnormality of the ribs
4	HP:0003974	Absent radius	HP:0040283
5	HP:0002023	Anal atresia
6	HP:0002025	Anal stenosis
7	HP:0000528	Anophthalmia
8	HP:0000458	Anosmia
9	HP:0010515	Aplasia/Hypoplasia of the thymus
10	HP:0002139	Arrhinencephaly	HP:0040284
11	HP:0001631	Atrial septal defect
12	HP:0010443	Bifid femur	HP:0040283
13	HP:0000453	Choanal atresia	HP:0040284
14	HP:0000175	Cleft palate
15	HP:0000204	Cleft upper lip
16	HP:0000028	Cryptorchidism
17	HP:0000378	Cupped ear
18	HP:0000824	Decreased response to growth hormone stimulation test
19	HP:0000823	Delayed puberty
20	HP:0001719	Double outlet right ventricle
21	HP:0200021	Down-sloping shoulders
22	HP:0000494	Downslanted palpebral fissures
23	HP:0002247	Duodenal atresia
24	HP:0002015	Dysphagia
25	HP:0002032	Esophageal atresia
26	HP:0000324	Facial asymmetry	HP:0040284
27	HP:0010628	Facial palsy	HP:0040284
28	HP:0011968	Feeding difficulties
29	HP:0008213	Gonadotropin deficiency
30	HP:0004058	Hand monodactyly	HP:0040283
31	HP:0001161	Hand polydactyly
32	HP:0002937	Hemivertebrae
33	HP:0001360	Holoprosencephaly	HP:0040284
34	HP:0000085	Horseshoe kidney
35	HP:0000126	Hydronephrosis
36	HP:0000316	Hypertelorism
37	HP:0002901	Hypocalcemia
38	HP:0000044	Hypogonadotropic hypogonadism
39	HP:0003022	Hypoplasia of the ulna	HP:0040283
40	HP:0000821	Hypothyroidism
41	HP:0001249	Intellectual disability	HP:0040284
42	HP:0000612	Iris coloboma	HP:0040284
43	HP:0000066	Labial hypoplasia
44	HP:0000394	Lop ear
45	HP:0001888	Lymphopenia
46	HP:0000272	Malar flattening
47	HP:0000252	Microcephaly
48	HP:0000347	Micrognathia
49	HP:0000054	Micropenis
50	HP:0000568	Microphthalmia
51	HP:0008551	Microtia
52	HP:0000410	Mixed hearing impairment
53	HP:0001539	Omphalocele
54	HP:0000860	Parathyroid hypoplasia
55	HP:0001643	Patent ductus arteriosus
56	HP:0003812	Phenotypic variability
57	HP:0004496	Posterior choanal atresia
58	HP:0008897	Postnatal growth retardation
59	HP:0000508	Ptosis
60	HP:0001642	Pulmonic stenosis
61	HP:0000104	Renal agenesis
62	HP:0000089	Renal hypoplasia
63	HP:0000480	Retinal coloboma
64	HP:0002650	Scoliosis
65	HP:0009778	Short thumb
66	HP:0003745	Sporadic
67	HP:0000321	Square face
68	HP:0001636	Tetralogy of Fallot
69	HP:0002575	Tracheoesophageal fistula	HP:0040284
70	HP:0001537	Umbilical hernia
71	HP:0001629	Ventricular septal defect
72	HP:0000465	Webbed neck

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
NM_017780.3(CHD7):c.191_194delCAAA (p.Thr64Serfs)	55636	CHD7	Pathogenic	587783431	RCV000145655;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61654182	61654185	NM_017780.3:c.191_194delCAAA	NP_060250.2:p.Thr64Serfs	NC_000008.10:g.61654182_61654185delCAAA	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.216T>C (p.Tyr72=)	55636	CHD7	Benign;Likely benign;Uncertain significance	16926453	RCV000145656; RCV000081823;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005; MedGen:CN169374	8	61654207	61654207	NM_017780.3:c.216T>C	NP_060250.2:p.Tyr72=	NC_000008.10:g.61654207T>C	-	C0265354 214800 CHARGE association; CN169374 not specified
NM_017780.3(CHD7):c.361G>A (p.Gly121Ser)	55636	CHD7	Uncertain significance	587783439	RCV000145668;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61654352	61654352	NM_017780.3:c.361G>A	NP_060250.2:p.Gly121Ser	NC_000008.10:g.61654352G>A	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.469C>T (p.Arg157Ter)	55636	CHD7	Pathogenic	794727293	RCV000175883;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61654460	61654460	NM_017780.3:c.469C>T	NP_060250.2:p.Arg157Ter	NC_000008.10:g.61654460C>T	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.528dupG (p.Pro177Alafs)	55636	CHD7	Pathogenic	797045468	RCV000193887;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61654519	61654519	NM_017780.3:c.528dupG	NP_060250.2:p.Pro177Alafs	NC_000008.10:g.61654519dupG	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.657C>T (p.Gly219=)	55636	CHD7	Benign;Likely benign;Uncertain significance	113483301	RCV000145687; RCV000081851;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005; MedGen:CN169374	8	61654648	61654648	NM_017780.3:c.657C>T	NP_060250.2:p.Gly219=	NC_000008.10:g.61654648C>T	-	C0265354 214800 CHARGE association; CN169374 not specified
NM_017780.3(CHD7):c.1224_1234delTCCTCCTCCAC (p.Pro409Serfs)	55636	CHD7	Pathogenic	794727295	RCV000175891;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61655215	61655225	NM_017780.3:c.1224_1234delTCCTCCTCCAC	NP_060250.2:p.Pro409Serfs	NC_000008.10:g.61655215_61655225delTCCTCCTCCAC	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.1246G>T (p.Gly416Ter)	55636	CHD7	Pathogenic	587783428	RCV000145652;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61655237	61655237	NM_017780.3:c.1246G>T	NP_060250.2:p.Gly416Ter	NC_000008.10:g.61655237G>T	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.1465C>T (p.Gln489Ter)	55636	CHD7	Pathogenic	794727298	RCV000175896;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61655456	61655456	NM_017780.3:c.1465C>T	NP_060250.2:p.Gln489Ter	NC_000008.10:g.61655456C>T	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.1480C>T (p.Arg494Ter)	55636	CHD7	Pathogenic	587783429	RCV000145653;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61655471	61655471	NM_017780.3:c.1480C>T	NP_060250.2:p.Arg494Ter	NC_000008.10:g.61655471C>T	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.1488dupA (p.Pro497Thrfs)	55636	CHD7	Pathogenic	786204200	RCV000168287;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61655479	61655479	NM_017780.3:c.1488dupA	NP_060250.2:p.Pro497Thrfs	NC_000008.10:g.61655479dupA	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.1504delC (p.Pro502Leufs)	55636	CHD7	Pathogenic	863224517	RCV000199561;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61655495	61655495	NM_017780.3:c.1504delC	NP_060250.2:p.Pro502Leufs	NC_000008.10:g.61655495delC	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.1512A>G (p.Gln504=)	55636	CHD7	Uncertain significance	587783430	RCV000145654;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61655503	61655503	NM_017780.3:c.1512A>G	NP_060250.2:p.Gln504=	NC_000008.10:g.61655503A>G	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.1678dupG (p.Glu560Glyfs)	55636	CHD7	Pathogenic	797045461	RCV000194479;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61693571	61693571	NM_017780.3:c.1678dupG	NP_060250.2:p.Glu560Glyfs	NC_000008.10:g.61693571dupG	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.2376+4A>G	55636	CHD7	Uncertain significance	864622519	RCV000206807;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61713088	61713088	NM_017780.3:c.2376+4A>G		NC_000008.10:g.61713088A>G	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.2442+5G>C	55636	CHD7	Pathogenic	387906271	RCV000002113; RCV000002114;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005; MedGen:C2675302,OMIM:612370	8	61714157	61714157	NM_017780.3:c.2442+5G>C		NC_000008.10:g.61714157G>C	OMIM Allelic Variant:608892.0013	C0265354 214800 CHARGE association; C2675302 612370 Kallmann syndrome 5
NC_000008.10:g.61716600_61721089del4490	55636	CHD7	Pathogenic	-1	RCV000202645;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61716600	61721089	-	-		-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.2501C>T (p.Ser834Phe)	55636	CHD7	Pathogenic	121434344	RCV000002111; RCV000030798;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005; MedGen:C3552136	8	61728948	61728948	NM_017780.3:c.2501C>T	NP_060250.2:p.Ser834Phe	NC_000008.10:g.61728948C>T	OMIM Allelic Variant:608892.0012	C0265354 214800 CHARGE association; C3552136 Hypogonadotropic hypogonadism 5 without anosmia
NM_017780.3(CHD7):c.2502_2509dupTTATCTTC (p.His837Leufs)	55636	CHD7	Pathogenic	797045463	RCV000193650;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61728949	61728956	NM_017780.3:c.2502_2509dupTTATCTTC	NP_060250.2:p.His837Leufs	NC_000008.10:g.61728949_61728956dupTTATCTTC	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.2613+1G>A	55636	CHD7	Pathogenic	587783432	RCV000145658;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61729061	61729061	NM_017780.3:c.2613+1G>A		NC_000008.10:g.61729061G>A	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.2642dupA (p.Tyr881Terfs)	55636	CHD7	Pathogenic	797045465	RCV000192729;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61732594	61732594	NM_017780.3:c.2642dupA	NP_060250.2:p.Tyr881Terfs	NC_000008.10:g.61732594dupA	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.2643T>G (p.Tyr881Ter)	55636	CHD7	Pathogenic	587783433	RCV000145659;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61732595	61732595	NM_017780.3:c.2643T>G	NP_060250.2:p.Tyr881Ter	NC_000008.10:g.61732595T>G	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.2815G>T (p.Glu939Ter)	55636	CHD7	Pathogenic	587783434	RCV000145660;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61734466	61734466	NM_017780.3:c.2815G>T	NP_060250.2:p.Glu939Ter	NC_000008.10:g.61734466G>T	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.2830C>A (p.Arg944Ser)	55636	CHD7	Uncertain significance	587783435	RCV000145661;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61734481	61734481	NM_017780.3:c.2830C>A	NP_060250.2:p.Arg944Ser	NC_000008.10:g.61734481C>A	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.2905_2906delAG (p.Arg969Glyfs)	55636	CHD7	Pathogenic	587783436	RCV000145662;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61734652	61734653	NM_017780.3:c.2905_2906delAG	NP_060250.2:p.Arg969Glyfs	NC_000008.10:g.61734652_61734653delAG	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.2933G>A (p.Trp978Ter)	55636	CHD7	Pathogenic	727503863	RCV000153009;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61734680	61734680	NM_017780.3:c.2933G>A	NP_060250.2:p.Trp978Ter	NC_000008.10:g.61734680G>A	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.3082A>G (p.Ile1028Val)	55636	CHD7	Pathogenic	121434338	RCV000002100; RCV000081828;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005; MedGen:CN221809	8	61735186	61735186	NM_017780.3:c.3082A>G	NP_060250.2:p.Ile1028Val	NC_000008.10:g.61735186A>G	HGMD:CM042321,OMIM Allelic Variant:608892.0001	C0265354 214800 CHARGE association; CN221809 not provided
NM_017780.3(CHD7):c.3201+3A>T	55636	CHD7	Uncertain significance	587783437	RCV000145664;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61735308	61735308	NM_017780.3:c.3201+3A>T		NC_000008.10:g.61735308A>T	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.3379-2A>C	55636	CHD7	Likely pathogenic	864622523	RCV000205203;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61741220	61741220	NM_017780.3:c.3379-2A>C		NC_000008.10:g.61741220A>C	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.3678delC (p.Phe1226Leufs)	55636	CHD7	Pathogenic	863224518	RCV000196644;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61743036	61743036	NM_017780.3:c.3678delC	NP_060250.2:p.Phe1226Leufs	NC_000008.10:g.61743036delC	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.3770T>G (p.Leu1257Arg)	55636	CHD7	Pathogenic	121434339	RCV000002101;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61743128	61743128	NM_017780.3:c.3770T>G	NP_060250.2:p.Leu1257Arg	NC_000008.10:g.61743128T>G	OMIM Allelic Variant:608892.0002	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.3811G>T (p.Glu1271Ter)	55636	CHD7	Pathogenic	121434342	RCV000002106;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61748664	61748664	NM_017780.3:c.3811G>T	NP_060250.2:p.Glu1271Ter	NC_000008.10:g.61748664G>T	OMIM Allelic Variant:608892.0007	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.3835G>A (p.Asp1279Asn)	55636	CHD7	Uncertain significance	864622150	RCV000206559;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61748688	61748688	NM_017780.3:c.3835G>A	NP_060250.2:p.Asp1279Asn	NC_000008.10:g.61748688G>A	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.4318C>T (p.Gln1440Ter)	55636	CHD7	Pathogenic	587783440	RCV000145669;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61750359	61750359	NM_017780.3:c.4318C>T	NP_060250.2:p.Gln1440Ter	NC_000008.10:g.61750359C>T	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.4353+3A>G	55636	CHD7	Likely pathogenic	587783441	RCV000145670;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61750397	61750397	NM_017780.3:c.4353+3A>G		NC_000008.10:g.61750397A>G	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.4480C>T (p.Arg1494Ter)	55636	CHD7	Pathogenic	587783442	RCV000145671;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61750761	61750761	NM_017780.3:c.4480C>T	NP_060250.2:p.Arg1494Ter	NC_000008.10:g.61750761C>T	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.4534-13T>G	55636	CHD7	Benign;Uncertain significance	114996731	RCV000145672; RCV000176104;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005; MedGen:CN169374	8	61754190	61754190	NM_017780.3:c.4534-13T>G		NC_000008.10:g.61754190T>G	-	C0265354 214800 CHARGE association; CN169374 not specified
NM_017780.3(CHD7):c.4634delT (p.Leu1545Terfs)	55636	CHD7	Pathogenic	587783443	RCV000145673;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61754303	61754303	NM_017780.3:c.4634delT	NP_060250.2:p.Leu1545Terfs	NC_000008.10:g.61754303delT	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.4760C>T (p.Pro1587Leu)	55636	CHD7	Uncertain significance	587783444	RCV000145674;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61754521	61754521	NM_017780.3:c.4760C>T	NP_060250.2:p.Pro1587Leu	NC_000008.10:g.61754521C>T	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.4795C>T (p.Gln1599Ter)	55636	CHD7	Pathogenic	267606724	RCV000002118; RCV000122607;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005; MedGen:CN221809	8	61754556	61754556	NM_017780.3:c.4795C>T	NP_060250.2:p.Gln1599Ter	NC_000008.10:g.61754556C>T	OMIM Allelic Variant:608892.0017	C0265354 214800 CHARGE association; CN221809 not provided
NM_017780.3(CHD7):c.4915delG (p.Val1639Terfs)	55636	CHD7	Pathogenic	864622455	RCV000206229;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61757487	61757487	NM_017780.3:c.4915delG	NP_060250.2:p.Val1639Terfs	NC_000008.10:g.61757487delG	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.5023C>T (p.Gln1675Ter)	55636	CHD7	Pathogenic	797045467	RCV000192854;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61757595	61757595	NM_017780.3:c.5023C>T	NP_060250.2:p.Gln1675Ter	NC_000008.10:g.61757595C>T	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.5051-4C>T	55636	CHD7	Benign	71640288	RCV000204649; RCV000081838;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005; MedGen:CN169374	8	61757805	61757805	NM_017780.3:c.5051-4C>T		NC_000008.10:g.61757805C>A,NC_000008.10:g.61757805C>T	-	C0265354 214800 CHARGE association; CN169374 not specified
NM_017780.3(CHD7):c.5199dupT (p.His1734Serfs)	55636	CHD7	Pathogenic	863224856	RCV000198147;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61757957	61757957	NM_017780.3:c.5199dupT	NP_060250.2:p.His1734Serfs	NC_000008.10:g.61757957dupT	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.5405-7G>A	55636	CHD7	Pathogenic	398124321	RCV000176678; RCV000081841;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005; MedGen:CN221809	8	61763045	61763045	NM_017780.3:c.5405-7G>A		NC_000008.10:g.61763045G>A	HGMD:CS042535	C0265354 214800 CHARGE association; CN221809 not provided
NM_017780.3(CHD7):c.5418C>G (p.Tyr1806Ter)	55636	CHD7	Pathogenic	121434340	RCV000002102;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61763065	61763065	NM_017780.3:c.5418C>G	NP_060250.2:p.Tyr1806Ter	NC_000008.10:g.61763065C>G	OMIM Allelic Variant:608892.0003	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.5450T>G (p.Phe1817Cys)	55636	CHD7	Likely pathogenic	587783445	RCV000145676;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61763097	61763097	NM_017780.3:c.5450T>G	NP_060250.2:p.Phe1817Cys	NC_000008.10:g.61763097T>G	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.5458C>T (p.Arg1820Ter)	55636	CHD7	Pathogenic	587783446	RCV000145677;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61763105	61763105	NM_017780.3:c.5458C>T	NP_060250.2:p.Arg1820Ter	NC_000008.10:g.61763105C>T	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.5551G>T (p.Glu1851Ter)	55636	CHD7	Pathogenic	587783447	RCV000145678;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61763607	61763607	NM_017780.3:c.5551G>T	NP_060250.2:p.Glu1851Ter	NC_000008.10:g.61763607G>T	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.5638dupG (p.Glu1880Glyfs)	55636	CHD7	Pathogenic	797045469	RCV000195102;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61763851	61763851	NM_017780.3:c.5638dupG	NP_060250.2:p.Glu1880Glyfs	NC_000008.10:g.61763851dupG	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.5666-2A>C	55636	CHD7	Pathogenic	587783448	RCV000145679;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61764576	61764576	NM_017780.3:c.5666-2A>C		NC_000008.10:g.61764576A>C	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.5752dupA (p.Thr1918Asnfs)	55636	CHD7	Pathogenic	786200873	RCV000002107;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61764664	61764664	NM_017780.3:c.5752dupA	NP_060250.2:p.Thr1918Asnfs	NC_000008.10:g.61764664dupA	OMIM Allelic Variant:608892.0008	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.5859G>A (p.Ala1953=)	55636	CHD7	Uncertain significance	587783449	RCV000145680;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61764771	61764771	NM_017780.3:c.5859G>A	NP_060250.2:p.Ala1953=	NC_000008.10:g.61764771G>A	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.6157C>T (p.Arg2053Ter)	55636	CHD7	Pathogenic	587783450	RCV000145682;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61765441	61765441	NM_017780.3:c.6157C>T	NP_060250.2:p.Arg2053Ter	NC_000008.10:g.61765441C>T	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.6250A>G (p.Ser2084Gly)	55636	CHD7	Uncertain significance	201083157	RCV000145683;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61765534	61765534	NM_017780.3:c.6250A>G	NP_060250.2:p.Ser2084Gly	NC_000008.10:g.61765534A>G	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.6287A>G (p.His2096Arg)	55636	CHD7	Likely pathogenic	587783451	RCV000145684;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61765571	61765571	NM_017780.3:c.6287A>G	NP_060250.2:p.His2096Arg	NC_000008.10:g.61765571A>G	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.6292C>T (p.Arg2098Ter)	55636	CHD7	Pathogenic	-1	RCV000211558;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61765576	61765576	NM_017780.3:c.6292C>T	NP_060250.2:p.Arg2098Ter		Genome Clinic of Geneva,University Hospital of Geneva:10_April2016	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.6322G>A (p.Gly2108Arg)	55636	CHD7	Pathogenic	121434343	RCV000002110;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61765606	61765606	NM_017780.3:c.6322G>A	NP_060250.2:p.Gly2108Arg	NC_000008.10:g.61765606G>A	OMIM Allelic Variant:608892.0011	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.6356A>G (p.Asp2119Gly)	55636	CHD7	Uncertain significance	587783452	RCV000145685;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61765640	61765640	NM_017780.3:c.6356A>G	NP_060250.2:p.Asp2119Gly	NC_000008.10:g.61765640A>G	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.6446delG (p.Gly2149Aspfs)	55636	CHD7	Pathogenic	797045470	RCV000193810;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61765730	61765730	NM_017780.3:c.6446delG	NP_060250.2:p.Gly2149Aspfs	NC_000008.10:g.61765730delG	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.6526delG (p.Glu2176Argfs)	55636	CHD7	Pathogenic	797045471	RCV000195205;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61765810	61765810	NM_017780.3:c.6526delG	NP_060250.2:p.Glu2176Argfs	NC_000008.10:g.61765810delG	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.6529G>T (p.Glu2177Ter)	55636	CHD7	Pathogenic	750047137	RCV000177569;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61765813	61765813	NM_017780.3:c.6529G>T	NP_060250.2:p.Glu2177Ter	NC_000008.10:g.61765813G>T	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.6825dupC (p.Met2276Hisfs)	55636	CHD7	Pathogenic	797045472	RCV000193258;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61766971	61766971	NM_017780.3:c.6825dupC	NP_060250.2:p.Met2276Hisfs	NC_000008.10:g.61766971dupC	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.6850C>T (p.Arg2284Ter)	55636	CHD7	Pathogenic	587783454	RCV000145689;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61766996	61766996	NM_017780.3:c.6850C>T	NP_060250.2:p.Arg2284Ter	NC_000008.10:g.61766996C>T	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.6955C>A (p.Arg2319Ser)	55636	CHD7	Pathogenic	121434341	RCV000002105;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61768552	61768552	NM_017780.3:c.6955C>A	NP_060250.2:p.Arg2319Ser	NC_000008.10:g.61768552C>A	OMIM Allelic Variant:608892.0006	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.6995G>A (p.Trp2332Ter)	55636	CHD7	Pathogenic	794727569	RCV000177749;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61768592	61768592	NM_017780.3:c.6995G>A	NP_060250.2:p.Trp2332Ter	NC_000008.10:g.61768592G>A	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.7179C>A (p.Asn2393Lys)	55636	CHD7	Uncertain significance	753446252	RCV000168185;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61769018	61769018	NM_017780.3:c.7179C>A	NP_060250.2:p.Asn2393Lys	NC_000008.10:g.61769018C>A	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.7252C>T (p.Arg2418Ter)	55636	CHD7	Pathogenic	587783455	RCV000145690;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61769091	61769091	NM_017780.3:c.7252C>T	NP_060250.2:p.Arg2418Ter	NC_000008.10:g.61769091C>T	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.7384_7387delTCTT (p.Ser2462Glnfs)	55636	CHD7	Pathogenic	587783456	RCV000145692;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61769223	61769226	NM_017780.3:c.7384_7387delTCTT	NP_060250.2:p.Ser2462Glnfs	NC_000008.10:g.61769223_61769226delTCTT	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.7579A>C (p.Met2527Leu)	55636	CHD7	Benign;Likely benign	192129249	RCV000203938; RCV000145693;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005; MedGen:CN169374	8	61769418	61769418	NM_017780.3:c.7579A>C	NP_060250.2:p.Met2527Leu	NC_000008.10:g.61769418A>C	-	C0265354 214800 CHARGE association; CN169374 not specified
NM_017780.3(CHD7):c.7590A>G (p.Lys2530=)	55636	CHD7	Uncertain significance	61742801	RCV000145694;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61769429	61769429	NM_017780.3:c.7590A>G	NP_060250.2:p.Lys2530=	NC_000008.10:g.61769429A>G	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.7663delA (p.Arg2555Glufs)	55636	CHD7	Pathogenic	863224843	RCV000199327;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61773517	61773517	NM_017780.3:c.7663delA	NP_060250.2:p.Arg2555Glufs	NC_000008.10:g.61773517delA	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.7848G>A (p.Leu2616=)	55636	CHD7	Uncertain significance	188188906	RCV000145695;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61774772	61774772	NM_017780.3:c.7848G>A	NP_060250.2:p.Leu2616=	NC_000008.10:g.61774772G>A	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.7891C>T (p.Arg2631Ter)	55636	CHD7	Pathogenic	587783457	RCV000145696;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61774815	61774815	NM_017780.3:c.7891C>T	NP_060250.2:p.Arg2631Ter	NC_000008.10:g.61774815C>T	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.7940_7941dupTG (p.Pro2648Cysfs)	55636	CHD7	Pathogenic	797045473	RCV000194957;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61774864	61774865	NM_017780.3:c.7940_7941dupTG	NP_060250.2:p.Pro2648Cysfs	NC_000008.10:g.61774864_61774865dupTG	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.7957C>T (p.Arg2653Ter)	55636	CHD7	Pathogenic	587783458	RCV000145697;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61774881	61774881	NM_017780.3:c.7957C>T	NP_060250.2:p.Arg2653Ter	NC_000008.10:g.61774881C>T	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.8055G>A (p.Trp2685Ter)	55636	CHD7	Pathogenic	587783459	RCV000145698;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61775190	61775190	NM_017780.3:c.8055G>A	NP_060250.2:p.Trp2685Ter	NC_000008.10:g.61775190G>A	-	C0265354 214800 CHARGE association
NM_017780.3(CHD7):c.8453_8463dupACCCTCTGTCA (p.Ala2822Thrfs)	55636	CHD7	Pathogenic	797044725	RCV000177948;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	8	61777951	61777961	NM_017780.3:c.8453_8463dupACCCTCTGTCA	NP_060250.2:p.Ala2822Thrfs	NC_000008.10:g.61777951_61777961dupACCCTCTGTCA	-	C0265354 214800 CHARGE association
NM_012431.2(SEMA3E):c.2108C>T (p.Ser703Leu)	9723	SEMA3E	Pathogenic	121918341	RCV000002611;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005	7	82997122	82997122	NM_012431.2:c.2108C>T	NP_036563.1:p.Ser703Leu	NC_000007.13:g.82997122G>A	OMIM Allelic Variant:608166.0001	C0265354 214800 CHARGE association
NM_012431.2(SEMA3E):c.2102G>T (p.Ser701Ile)	9723	SEMA3E	Benign	142204796	RCV000206468; RCV000203069;	N	MedGen:C0265354,OMIM:214800,ORPHA:138,SNOMED CT:47535005; MedGen:CN169374	7	82997128	82997128	NM_012431.2:c.2102G>T	NP_036563.1:p.Ser701Ile		-	C0265354 214800 CHARGE association; CN169374 not specified