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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: 46, XY Disorders of Sex Development (D058490)
Parent Node: Genetic Diseases, X-Linked (D040181)
..Starting node ..Androgen-Insensitivity Syndrome (D013734)
Child Nodes:
........Androgen Insensitivity Syndrome due to Coactivator Deficiency (C564545)
........Lubs syndrome (C538435)
Sister Nodes:
..Aarskog Syndrome (C535331) 1
..Abruzzo Erickson syndrome (C535559)
..Achromatopsia incomplete, X-linked (C538165)
..Adrenal Hypoplasia, Congenital, with Precocious Puberty (C564568)
..Agammaglobulinemia, X-linked, type 2 (C538057)
..Aicardi Syndrome (D058540) 1
..Aland Island Eye Disease (C562664)
..Alpha-Thalassemia Myelodysplasia Syndrome (C563023)
..Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis (C564570)
..Alzheimer Disease 16 (C567463)
..Androgen-Insensitivity Syndrome (D013734) 2
..Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency (C567533)
..Anemia, sideroblastic spinocerebellar ataxia (C536358)
..Anemia, X-Linked, without Thrombocytopenia (C564429)
..Anencephaly and spina bifida X-linked (C536359)
..Aneurysm, Intracranial Berry, 5 (C563670)
..Angioma serpiginosum, X-linked (C536366)
..Arthrogryposis multiplex congenita, distal, X-linked (C535380)
..Arthrogryposis, X-Linked, Type V (C564574)
..Arts syndrome (C535388)
..Atypical Mycobacteriosis, Familial, X-Linked 1 (C567070)
..Atypical Mycobacteriosis, Familial, X-Linked 2 (C567068)
..Barth Syndrome (D056889) 2
..Bornholm Eye Disease (C564092)
..Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, And (C564519)
..Branchial arch syndrome X-linked (C537102)
..Brunner Syndrome (C563156)
..Bruton type agammaglobulinemia (C537409)
..Bulbo-Spinal Atrophy, X-Linked (D055534) 1
..Bullous Dystrophy, Hereditary Macular Type (C563065)
..Cantu syndrome (C535572)
..Cardiac valvular dysplasia, X-linked (C535576)
..Cardiomyopathy, Dilated, 3A (C564721)
..Cataract, congenital, with microcornea or slight microphthalmia (C535338)
..Chondrodysplasia punctata 2, X-linked dominant (C538416)
..Chondrodysplasia punctata, brachytelephalangic (C535941)
..Choroideremia (D015794) 2
..Chromosome Xp11.23-P11.22 Duplication Syndrome (C567585)
..Chromosome Xq28 Duplication Syndrome (C567580)
..Cleft Palate with Ankyloglossia (C564442)
..Cleft palate X-linked (C536426)
..Cone Dystrophy, X-Linked, 1 (C564439)
..Cone dystrophy, x-linked, with tapetal-like sheen (C535975)
..Cone-Rod Dystrophy, X-Linked, 2 (C564717)
..Cone-Rod Dystrophy, X-Linked, 3 (C564507)
..Cone-Rod Dystrophy, X-Linked, Type 1 (C564438)
..Congenital alopecia X-linked (C535981)
..Congenital Heart Defects, X-Linked (C567444)
..Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (C562515)
..Congenital idiopathic intestinal pseudoobstruction (C535532)
..Corpus Callosum, Partial Agenesis of, X-Linked (C564115)
..Craniofacioskeletal Syndrome (C567471)
..Deafness, High-Frequency Sensorineural, X-Linked (C564432)
..Deafness, X-Linked 1 (C564433)
..Deafness, X-Linked 3 (C564727)
..Deafness, X-Linked 4 (C564723)
..Deafness, X-Linked 5 (C564472)
..Dent Disease (D057973) 1
..Dent disease 1 (C538212)
..Dent Disease 2 (C564487)
..Dyggve-Melchior-Clausen syndrome (C535726)
..Dyserythropoietic Anemia with Thrombocytopenia (C564525)
..Dyskeratosis Congenita (D019871) 3
..Dystonia 3, Torsion, X-Linked (C564048)
..Ectodermal Dysplasia 1, Anhidrotic (D053358) 1
..Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema (C564538)
..Ectodermal dysplasia, hypohidrotic, with immune deficiency (C536181)
..Ehlers-Danlos syndrome type 5 (C536197)
..Epidermodysplasia Verruciformis, X-Linked (C564430)
..Epilepsy, Female-Restricted, with Mental Retardation (C564715)
..Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders (C564505)
..Episodic Muscle Weakness, X-Linked (C564565)
..Exudative Vitreoretinopathy, Familial, X-Linked Recessive (C564428)
..Fabry Disease (D000795) 2
..Fetal akinesia syndrome, X-linked (C537921)
..Fg Syndrome 5 (C564480)
..Focal Dermal Hypoplasia (D005489) 1
..Glycogen Storage Disease Type IIb (D052120)
..Glycogen Storage Disease Type VIII (D006015)
..Glycogen Storage Disease, Type IXA2 (C567579)
..Glycogen Storage Disease, Type IXD (C564485)
..Granulomatous Disease, Chronic (D006105) 7
..Hemophilia B (D002836)
..Heterotaxy, visceral, X-linked (C538116)
..Heterotopia, Periventricular Nodular, with Frontometaphyseal Dysplasia (C564725)
..Heterotopia, Periventricular, Ehlers-Danlos Variant (C564492)
..Hodgkin disease, X-linked pseudoautosomal (C538326)
..Hydrocephalus With Cerebellar Agenesis (C564407)
..Hydrocephalus, X-linked (C536078)
..Hydrocephalus, X-Linked, with Congenital Idiopathic Intestinal Pseudoobstruction (C564408)
..Hyper-IgM Immunodeficiency Syndrome, Type 1 (D053307) 1
..Hyperekplexia and Epilepsy (C564474)
..Hypertrichosis congenital generalized X-linked (C538388)
..Hypogammaglobulinemia and Isolated growth hormone deficiency, X-linked (C537149)
..Hypogammaglobulinemia, X-Linked (C562478)
..Hypoparathyroidism, X-Linked (C562782)
..Hypospadias 1, X-Linked (C567482)
..Hypospadias 2, X-Linked (C567462)
..Ichthyosis, X-Linked (D016114) 2
..Ichthyosis, X-Linked, Complicated (C567443)
..Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome (C580192)
..Immunodeficiency, X-Linked, with Deficiency of 115,000 Dalton Surface Glycoprotein (C564120)
..Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked (C562780)
..Isolated Noncompaction of the Ventricular Myocardium (D056830) 5
..Joubert Syndrome 10 (C567582)
..Keratosis Follicularis Spinulosa Decalvans, X-Linked (C536159)
..Leigh Syndrome, X-Linked (C564114)
..Leukoencephalopathy With Metaphyseal Chondrodysplasia (C567065)
..Liver Glycogenosis, X-Linked, Type II (C564421)
..Lymphoproliferative Syndrome, X-Linked, 2 (C564469)
..Macrothrombocytopenia, X-Linked (C564526)
..Macular Dystrophy, X-Linked (C564110)
..Major Affective Disorder 2 (C564108)
..Martin-Probst Deafness-Mental Retardation Syndrome (C564495)
..MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome (C536029)
..Megalocornea (C562829)
..Membranoproliferative Glomerulonephritis, X-Linked (C564423)
..Mental Retardation, Skeletal Dysplasia, and Abducens Palsy (C564101)
..Mental Retardation, X-Linked (D038901) 134
..Mental Retardation, X-Linked, Syndromic 12 (C564106)
..Mental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
..Mental Retardation, X-Linked, Syndromic, Turner Type (C567476)
..Mental Retardation, X-Linked, Syndromic, Zdhhc9-Related (C567586)
..Mental Retardation, X-Linked, With Panhypopituitarism (C567485)
..Mental Retardation, X-Linked, Znf711-Related (C567583)
..Microcephaly microcornea syndrome Seemanova type (C537539)
..Microphthalmia, Isolated, with Coloboma 1 (C564531)
..Microphthalmia, syndromic 7 (C537466)
..Midline Defects, X-Linked (C564054)
..Mitral valve prolapse, familial, X-linked (C537478)
..Modifier, X-Linked, for Neurofunctional Defects (C564098)
..Multiple Pterygium Syndrome, X-Linked (C564072)
..Muscular Dystrophy, Duchenne (D020388) 1
..Muscular Dystrophy, Emery-Dreifuss (D020389) 10
..Muscular Dystrophy, Progressive Pectorodorsal (C564095)
..Myopathy, Reducing Body, X-Linked, Childhood-Onset (C567468)
..Myopathy, Reducing Body, X-Linked, Early-Onset, Severe (C567469)
..Myopathy, X-Linked, with Excessive Autophagy (C564093)
..Myopia 1 (C564091)
..Myopia 13 (C564473)
..Nance-Horan syndrome (C538336)
..Nasodigitoacoustic syndrome (C538337)
..NEMO mutation with immunodeficiency (C538399)
..Nephrogenic Syndrome of Inappropriate Antidiuresis (C564491)
..Nephrolithiasis, X-Linked Recessive, with Renal Failure (C562901)
..Neural tube defects X-linked (C536410)
..Neuropathy, Hereditary Sensory, X-Linked (C564090)
..Neutropenia, Severe Congenital, X-Linked (C564539)
..Night blindness, congenital stationary (C536122) 4
..Nystagmus 5, Infantile Periodic Alternating (C564478)
..Oculocerebrorenal Syndrome (D009800) 1
..Ophthalmoplegia, External, and Myopia (C564087)
..Opitz GBBB Syndrome, X-Linked (C567932)
..Optic atrophy, X-linked (C537125)
..Ornithine Carbamoyltransferase Deficiency Disease (D020163) 1
..Ovarian Dysgenesis 2 (C564499)
..Panhypopituitarism X-linked (C538613)
..Parathyroid Glands, Agenesis Of (C563238)
..Parkinson Disease 12 (C564486)
..Parkinsonism, early onset with mental retardation (C537179)
..Pelizaeus-Merzbacher Disease (D020371) 1
..Phosphoglycerate Kinase 1 Deficiency (C567067)
..Pigmentary Disorder, Reticulate, with Systemic Manifestations (C564461)
..Premature Ovarian Failure 2a (C564498)
..Progressive hearing loss stapes fixation (C536424)
..Properdin Deficiency, Type II (C564075)
..Properdin Deficiency, Type III (C564076)
..Properdin deficiency, X-linked (C537241)
..PROSTATE CANCER, HEREDITARY, X-LINKED 1 (OMIM:300147)
..Prostate Cancer, Hereditary, X-Linked 2 (C567477)
..Protoporphyria, Erythropoietic, X-Linked Dominant (C567464)
..Proud Syndrome (C563110)
..Ptosis, Hereditary Congenital 2 (C564553)
..Radial Ray Deficiency, X-Linked (C564523)
..Radiation Sensitivity of Natural Killer Activity (C564066)
..Radius absent anogenital anomalies (C535281)
..Reticuloendotheliosis, X-linked (C538362)
..Retinitis Pigmentosa 3 (C564520)
..Retinitis Pigmentosa 34 (C564475)
..Retinitis Pigmentosa 6 (C564065)
..Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness (C567595)
..Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked (C564467)
..Russell-Silver Syndrome, X-Linked (C562446)
..Short Stature, Idiopathic, X-Linked (C564479)
..Simpson-Golabi-Behmel syndrome (C537340)
..Simpson-Golabi-Behmel Syndrome, Type 2 (C564567)
..Sketetal dysplasia coarse facies mental retardation (C536671)
..Spastic paraplegia 16, X-linked (C536643)
..Spastic paraplegia 2, X-linked (C536857)
..Spastic Paraplegia 34, X-Linked (C567465)
..Spina Bifida, X-Linked (C564459)
..Spinal Muscular Atrophy, Distal, X-Linked 3 (C564506)
..Spinocerebellar Ataxia, X-Linked 1 (C563134)
..Spinocerebellar Ataxia, X-Linked 5 (C567478)
..Spinocerebellar ataxia, X-linked, 3 (C537315)
..Split-Hand Foot Malformation 2 (C564056) 1
..Spondyloepimetaphyseal Dysplasia, X-Linked (C564714)
..Spondyloepiphyseal Dysplasia Tarda, X-Linked (C562447)
..Spondylometaphyseal Dysplasia, X-Linked (C563124)
..Surfactant Metabolism Dysfunction, Pulmonary, 4 (C567461)
..TERMINAL OSSEOUS DYSPLASIA (OMIM:300244)
..Terminal Osseous Dysplasia and Pigmentary Defects (C564554)
..Testicular Germ Cell Tumor 1 (C564559)
..Thrombocytopenia 1 (C564052)
..Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis (C564050)
..Thrombocytopenia, X-Linked, Intermittent (C564053)
..Thrombocytosis, Familial X-Linked (C564532)
..Thrombophilia, X-Linked, Due To Factor Ix Defect (C567581)
..Thyroxine-Binding Globulin Deficiency (C564049)
..Tooth Agenesis, Selective, X-Linked, 1 (C567060)
..Torticollis keloids cryptorchidism renal dysplasia (C536970)
..VACTERL Association With Hydrocephalus (C564751)
..VACTERL association with hydrocephaly, X-linked (C536520)
..Vasquez Hurst Sotos syndrome (C536533)
..Vesicoureteral Reflux, X-Linked (C564042)
..Von Willebrand Disease, X-Linked Form (C564041)
..Wells Jankovic syndrome (C536692)
..Wieacker syndrome (C536703)
..Wiskott-Aldrich Syndrome (D014923) 1
..X Inactivation, Familial Skewed, 1 (C564716)
..X Inactivation, Familial Skewed, 2 (C564572)
..X-linked adrenal hypoplasia congenita (C536757)
..X-Linked Chondrodysplasia Punctata 1 (C580533)
..X-Linked Combined Immunodeficiency Diseases (D053632) 1
..X-Linked Infantile Nystagmus (C580539)
..X-linked sideroblastic anemia (C536761)
..X-linked tetra-amelia (C536497)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

618

Name:

Androgen-Insensitivity Syndrome

Definition:

A disorder of sexual development transmitted as an X-linked recessive trait. These patients have a karyotype of 46,XY with end-organ resistance to androgen due to mutations in the androgen receptor (RECEPTORS, ANDROGEN) gene. Severity of the defect in receptor quantity or quality correlates with their phenotypes. In these genetic males, the phenotypic spectrum ranges from those with normal female external genitalia, through those with genital ambiguity as in Reifenstein Syndrome, to that of a normal male with INFERTILITY.

Alternative IDs:

OMIM:300068|OMIM:312300

ParentIDs:

MESH:D040181|MESH:D058490

TreeNumbers:

C12.706.316.096.500 |C13.351.875.253.096.500 |C16.131.939.316.096.500 |C16.320.322.061 |C19.391.119.096.500

Synonyms:

Slim Mappings:

Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: D013734
MeSH: D013734
OMIM: 312300;

Genes:

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0001547	Abnormal rib cage morphology
3	HP:0012873	Absent vas deferens
4	HP:0000027	Azoospermia
5	HP:0000048	Bifid scrotum
6	HP:0000028	Cryptorchidism	HP:0040284
7	HP:0000771	Gynecomastia
8	HP:0000135	Hypogonadism
9	HP:0000789	Infertility
10	HP:0000037	Male pseudohermaphroditism
11	HP:0000054	Micropenis
12	HP:0000051	Perineal hypospadias	HP:0040284

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_000044.3(AR):c.4G>A (p.Glu2Lys)	367	AR	Pathogenic	104894742	RCV000010515;	N	MedGen:C0268301,OMIM:312300,ORPHA:90797,SNOMED CT:58672003	X	66764992	66764992	NM_000044.3:c.4G>A	NP_000035.2:p.Glu2Lys	NC_000023.10:g.66764992G>A	OMIM Allelic Variant:313700.0038	C0268301 312300 Reifenstein syndrome
NM_000044.3(AR):c.521T>G (p.Leu174Ter)	367	AR	Pathogenic	137852590	RCV000010519;	N	MedGen:C0268301,OMIM:312300,ORPHA:90797,SNOMED CT:58672003	X	66765509	66765509	NM_000044.3:c.521T>G	NP_000035.2:p.Leu174Ter	NC_000023.10:g.66765509T>G	OMIM Allelic Variant:313700.0042	C0268301 312300 Reifenstein syndrome
NM_000044.3(AR):c.1174C>T (p.Pro392Ser)	367	AR	Pathogenic	201934623	RCV000196772;	N	MedGen:C0268301,OMIM:312300,ORPHA:90797,SNOMED CT:58672003	X	66766162	66766162	NM_000044.3:c.1174C>T	NP_000035.2:p.Pro392Ser	NC_000023.10:g.66766162C>T	-	C0268301 312300 Reifenstein syndrome
NM_000044.3(AR):c.1789G>A (p.Ala597Thr)	367	AR	Pathogenic	137852569	RCV000010487;	N	MedGen:C0268301,OMIM:312300,ORPHA:90797,SNOMED CT:58672003	X	66905872	66905872	NM_000044.3:c.1789G>A	NP_000035.2:p.Ala597Thr	NC_000023.10:g.66905872G>A	OMIM Allelic Variant:313700.0011	C0268301 312300 Reifenstein syndrome
NM_000044.3(AR):c.1823G>A (p.Arg608Gln)	367	AR	Pathogenic	137852573	RCV000010494;	N	MedGen:C0268301,OMIM:312300,ORPHA:90797,SNOMED CT:58672003	X	66905906	66905906	NM_000044.3:c.1823G>A	NP_000035.2:p.Arg608Gln	NC_000023.10:g.66905906G>A	OMIM Allelic Variant:313700.0016	C0268301 312300 Reifenstein syndrome
NM_000044.3(AR):c.1937C>A (p.Ala646Asp)	367	AR	Pathogenic	1800053	RCV000010536;	N	MedGen:C0268301,OMIM:312300,ORPHA:90797,SNOMED CT:58672003	X	66931295	66931295	NM_000044.3:c.1937C>A	NP_000035.2:p.Ala646Asp	NC_000023.10:g.66931295C>A	OMIM Allelic Variant:313700.0060	C0268301 312300 Reifenstein syndrome
NM_000044.3(AR):c.2222C>G (p.Ser741Cys)	367	AR	Pathogenic	137852601	RCV000010535;	N	MedGen:C0268301,OMIM:312300,ORPHA:90797,SNOMED CT:58672003	X	66937368	66937368	NM_000044.3:c.2222C>G	NP_000035.2:p.Ser741Cys	NC_000023.10:g.66937368C>G	OMIM Allelic Variant:313700.0059	C0268301 312300 Reifenstein syndrome
NM_000044.3(AR):c.2231G>T (p.Gly744Val)	367	AR	Pathogenic	137852600	RCV000010531; RCV000010532;	N	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004; MedGen:C0268301,OMIM:312300,ORPHA:90797,SNOMED CT:58672003	X	66937377	66937377	NM_000044.3:c.2231G>T	NP_000035.2:p.Gly744Val	NC_000023.10:g.66937377G>A,NC_000023.10:g.66937377G>T	OMIM Allelic Variant:313700.0056	C0039585 300068 Androgen resistance syndrome; C0268301 312300 Reifenstein syndrome
NM_000044.3(AR):c.2291A>G (p.Tyr764Cys)	367	AR	Pathogenic	137852567	RCV000010484;	N	MedGen:C0268301,OMIM:312300,ORPHA:90797,SNOMED CT:58672003	X	66937437	66937437	NM_000044.3:c.2291A>G	NP_000035.2:p.Tyr764Cys	NC_000023.10:g.66937437A>G	OMIM Allelic Variant:313700.0008	C0268301 312300 Reifenstein syndrome
NM_000044.3(AR):c.2395C>G (p.Gln799Glu)	367	AR	Pathogenic	137852591	RCV000010520;	N	MedGen:C0268301,OMIM:312300,ORPHA:90797,SNOMED CT:58672003	X	66941751	66941751	NM_000044.3:c.2395C>G	NP_000035.2:p.Gln799Glu	NC_000023.10:g.66941751C>G	OMIM Allelic Variant:313700.0043	C0268301 312300 Reifenstein syndrome
NM_000044.3(AR):c.2423T>C (p.Met808Thr)	367	AR	Pathogenic	137852592	RCV000010521;	N	MedGen:C0268301,OMIM:312300,ORPHA:90797,SNOMED CT:58672003	X	66941779	66941779	NM_000044.3:c.2423T>C	NP_000035.2:p.Met808Thr	NC_000023.10:g.66941779T>C	OMIM Allelic Variant:313700.0044	C0268301 312300 Reifenstein syndrome
NM_000044.3(AR):c.2521C>T (p.Arg841Cys)	367	AR	Pathogenic	137852577	RCV000010504; RCV000010529;	N	MedGen:C0039585,OMIM:300068,SNOMED CT:12313004; MedGen:C0268301,OMIM:312300,ORPHA:90797,SNOMED CT:58672003	X	66942740	66942740	NM_000044.3:c.2521C>T	NP_000035.2:p.Arg841Cys	NC_000023.10:g.66942740C>T	OMIM Allelic Variant:313700.0026,OMIM Allelic Variant:313700.0054	C0039585 300068 Androgen resistance syndrome; C0268301 312300 Reifenstein syndrome
NM_000044.3(AR):c.2522G>A (p.Arg841His)	367	AR	Pathogenic	9332969	RCV000010503;	N	MedGen:C0268301,OMIM:312300,ORPHA:90797,SNOMED CT:58672003	X	66942741	66942741	NM_000044.3:c.2522G>A	NP_000035.2:p.Arg841His	NC_000023.10:g.66942741G>A	OMIM Allelic Variant:313700.0025	C0268301 312300 Reifenstein syndrome
NM_000044.3(AR):c.2567G>A (p.Arg856His)	367	AR	Pathogenic	9332971	RCV000010497;	N	MedGen:C0268301,OMIM:312300,ORPHA:90797,SNOMED CT:58672003	X	66942786	66942786	NM_000044.3:c.2567G>A	NP_000035.2:p.Arg856His	NC_000023.10:g.66942786G>A	OMIM Allelic Variant:313700.0019,OMIM Allelic Variant:313700.0040	C0268301 312300 Reifenstein syndrome
NM_000044.3(AR):c.2599G>T (p.Val867Leu)	367	AR	Pathogenic	137852564	RCV000010496;	N	MedGen:C0268301,OMIM:312300,ORPHA:90797,SNOMED CT:58672003	X	66942818	66942818	NM_000044.3:c.2599G>T	NP_000035.2:p.Val867Leu	NC_000023.10:g.66942818G>A,NC_000023.10:g.66942818G>T	OMIM Allelic Variant:313700.0018	C0268301 312300 Reifenstein syndrome