Genetic counseling - OMIM - NCBI

Genetic counseling - OMIM - NCBI





From NIH OMIM

OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily.

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• Search OMIM for "Genetic counseling" 

+516060 - ATP SYNTHASE 6; MTATP6

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1, INCLUDED; MC5DM1, INCLUDED

OMIM:

 

516060

Gene summaries Genetic tests Medical literature

Select item 6019062.

*601906 - WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 10B; WNT10B

Cytogenetic locations: 12q13.12

OMIM:

 

601906

Gene summaries Genetic tests Medical literature

Select item 1202403.

*120240 - COLLAGEN, TYPE VI, ALPHA-2; COL6A2

Cytogenetic locations: 21q22.3

OMIM:

 

120240

Gene summaries Genetic tests Medical literature

Select item 1184254.

*118425 - CHLORIDE CHANNEL 1, SKELETAL MUSCLE; CLCN1

Cytogenetic locations: 7q34

OMIM:

 

118425

Gene summaries Genetic tests Medical literature

Select item 1210115.

*121011 - GAP JUNCTION PROTEIN, BETA-2; GJB2

Cytogenetic locations: 13q12.11

OMIM:

 

121011

Gene summaries Genetic tests Medical literature

Select item 6024216.

*602421 - CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; CFTR

Cytogenetic locations: 7q31.2

OMIM:

 

602421

Gene summaries Genetic tests Medical literature

Select item 1826007.

#182600 - SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A

Cytogenetic locations: 14q22.1

OMIM:

 

182600

Gene summaries Genetic tests Medical literature

Select item 6047668.

*604766 - PODOCIN; NPHS2

Cytogenetic locations: 1q25.2

OMIM:

 

604766

Gene summaries Genetic tests Medical literature

Select item 1609009.

#160900 - MYOTONIC DYSTROPHY 1; DM1

Cytogenetic locations: 19q13.32

OMIM:

 

160900

Gene summaries Genetic tests Medical literature

Select item 22690010.

#226900 - EPIPHYSEAL DYSPLASIA, MULTIPLE, 4; EDM4

Cytogenetic locations: 5q32

OMIM:

 

226900

Gene summaries Genetic tests Medical literature

Select item 13378011.

#133780 - EXUDATIVE VITREORETINOPATHY 1; EVR1

RETINOPATHY OF PREMATURITY, INCLUDED; ROP, INCLUDED

Cytogenetic locations: 11q14.2

OMIM:

 

133780

Gene summaries Genetic tests Medical literature

Select item 16227012.

162270 - NEUROFIBROMATOSIS, TYPE IV, OF RICCARDI; NF4

OMIM:

 

162270

Gene summaries Genetic tests Medical literature

Select item 20378013.

#203780 - ALPORT SYNDROME, AUTOSOMAL RECESSIVE

Cytogenetic locations: 1pter-p36.13, 2q36.3

OMIM:

 

203780

Gene summaries Genetic tests Medical literature

Select item 11686014.

#116860 - CEREBRAL CAVERNOUS MALFORMATIONS; CCM

CEREBRAL CAVERNOUS MALFORMATIONS 1, INCLUDED; CCM1, INCLUDED

Cytogenetic locations: 7q21.2

OMIM:

 

116860

Gene summaries Genetic tests Medical literature

Select item 11822015.

#118220 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A

Cytogenetic locations: 17p12

OMIM:

 

118220

Gene summaries Genetic tests Medical literature

Select item 22930016.

#229300 - FRIEDREICH ATAXIA 1; FRDA

FRIEDREICH ATAXIA WITH RETAINED REFLEXES, INCLUDED; FARR, INCLUDED

Cytogenetic locations: 9q21.11

OMIM:

 

229300

Gene summaries Genetic tests Medical literature

Select item 61016817.

#610168 - LOEYS-DIETZ SYNDROME 2; LDS2

Cytogenetic locations: 3p24.1

OMIM:

 

610168

Gene summaries Genetic tests Medical literature

Select item 18730018.

#187300 - TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1

Cytogenetic locations: 9q34.11

OMIM:

 

187300

Gene summaries Genetic tests Medical literature

Select item 25645019.

#256450 - HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1

Cytogenetic locations: 11p15.1

OMIM:

 

256450

Gene summaries Genetic tests Medical literature

Select item 19110020.

#191100 - TUBEROUS SCLEROSIS 1; TSC1

Cytogenetic locations: 9q34.13

OMIM:

 

191100

Gene summaries Genetic tests Medical literature