CNNM4 Chromosome 2

Cyclin and CBS domain divalent metal cation transport mediator 4

58 variants 58 Health Risk

Upload your DNA to see your personal genotypes for variants in CNNM4.

What This Gene Does

This gene encodes a member of the ancient conserved domain containing protein family. Members of this protein family contain a cyclin box motif and have structural similarity to the cyclins. The encoded protein may play a role in metal ion transport. Mutations in this gene are associated with Jalili syndrome which consists of cone-rod dystrophy and amelogenesis imperfecta. [provided by RefSeq, Feb 2010]

Gene Info

Gene Group

"MicroRNA protein coding host genes|Solute carrier family 70, cyclin and CBS domain divalent metal cation transport mediators"

Locus Type

gene with protein product

Location

2q11.2

Ensembl

ENSG00000158158

Associated Conditions (6)

Jalili syndrome

Inborn genetic diseases

CNNM4-related disorder

Sarcoma

Malignant tumor of esophagus

Retinal dystrophy

Key Variants

RS138445233

Conflicting classifications of pathogenicity

Jalili syndrome, Jalili syndrome

Health Risk

RS140192152

Conflicting classifications of pathogenicity

Jalili syndrome, Inborn genetic diseases, CNNM4-related disorder

Health Risk

RS144915228

Conflicting classifications of pathogenicity

Jalili syndrome, Jalili syndrome

Health Risk

RS149656750

Conflicting classifications of pathogenicity

Jalili syndrome, Jalili syndrome

Health Risk

RS1553474576

Conflicting classifications of pathogenicity

Health Risk

RS200000984

Conflicting classifications of pathogenicity

Jalili syndrome, Jalili syndrome

Health Risk

RS200110847

Conflicting classifications of pathogenicity

Jalili syndrome, CNNM4-related disorder, Jalili syndrome

Health Risk

RS2078758552

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS35633391

Conflicting classifications of pathogenicity

Jalili syndrome, CNNM4-related disorder, Sarcoma

Health Risk

RS373657140

Conflicting classifications of pathogenicity

Health Risk

RS374698559

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS545205153

Conflicting classifications of pathogenicity

Jalili syndrome, Jalili syndrome

Health Risk

All Variants (58)

RSID	Category	Clinical Significance	Conditions
RS138445233	Health Risk	Conflicting classifications of pathogenicity	Jalili syndrome, Jalili syndrome
RS140192152	Health Risk	Conflicting classifications of pathogenicity	Jalili syndrome, Inborn genetic diseases, CNNM4-related disorder
RS144915228	Health Risk	Conflicting classifications of pathogenicity	Jalili syndrome, Jalili syndrome
RS149656750	Health Risk	Conflicting classifications of pathogenicity	Jalili syndrome, Jalili syndrome
RS1553474576	Health Risk	Conflicting classifications of pathogenicity	—
RS200000984	Health Risk	Conflicting classifications of pathogenicity	Jalili syndrome, Jalili syndrome
RS200110847	Health Risk	Conflicting classifications of pathogenicity	Jalili syndrome, CNNM4-related disorder, Jalili syndrome
RS2078758552	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS35633391	Health Risk	Conflicting classifications of pathogenicity	Jalili syndrome, CNNM4-related disorder, Sarcoma
RS373657140	Health Risk	Conflicting classifications of pathogenicity	—
RS374698559	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS545205153	Health Risk	Conflicting classifications of pathogenicity	Jalili syndrome, Jalili syndrome
RS569907931	Health Risk	Conflicting classifications of pathogenicity	CNNM4-related disorder, CNNM4-related disorder
RS753028867	Health Risk	Conflicting classifications of pathogenicity	Jalili syndrome, Jalili syndrome
RS758539045	Health Risk	Conflicting classifications of pathogenicity	Jalili syndrome, Jalili syndrome
RS761775711	Health Risk	Conflicting classifications of pathogenicity	Jalili syndrome, Jalili syndrome
RS766518199	Health Risk	Conflicting classifications of pathogenicity	Jalili syndrome, Jalili syndrome
RS1180652454	Health Risk	Likely pathogenic	—
RS1574047005	Health Risk	Likely pathogenic	Jalili syndrome, Jalili syndrome
RS1574047454	Health Risk	Likely pathogenic	Jalili syndrome, Jalili syndrome
RS2078764558	Health Risk	Likely pathogenic	Retinal dystrophy, Retinal dystrophy
RS2153351643	Health Risk	Likely pathogenic	—
RS2469454032	Health Risk	Likely pathogenic	Jalili syndrome, Jalili syndrome
RS758866379	Health Risk	Likely pathogenic	CNNM4-related disorder, CNNM4-related disorder
RS786205530	Health Risk	Likely pathogenic	—
RS1021713187	Health Risk	Pathogenic	—
RS1184213733	Health Risk	Pathogenic	—
RS1376873890	Health Risk	Pathogenic	—
RS1403924382	Health Risk	Pathogenic	—
RS1432600424	Health Risk	Pathogenic	Jalili syndrome, Jalili syndrome
RS1440538657	Health Risk	Pathogenic	—
RS1447882843	Health Risk	Pathogenic	—
RS1455470131	Health Risk	Pathogenic	Jalili syndrome, Retinal dystrophy, Jalili syndrome
RS1558993255	Health Risk	Pathogenic	Jalili syndrome, Jalili syndrome
RS2078758805	Health Risk	Pathogenic	—
RS2078763986	Health Risk	Pathogenic	Retinal dystrophy, Retinal dystrophy
RS2078772292	Health Risk	Pathogenic	—
RS2153341328	Health Risk	Pathogenic	—
RS2153341719	Health Risk	Pathogenic	—
RS2153349278	Health Risk	Pathogenic	Jalili syndrome, Jalili syndrome
RS2466424600	Health Risk	Pathogenic	—
RS2466486944	Health Risk	Pathogenic	—
RS2469450195	Health Risk	Pathogenic	Jalili syndrome, Jalili syndrome
RS2469450369	Health Risk	Pathogenic	—
RS2469455174	Health Risk	Pathogenic	Jalili syndrome, Jalili syndrome
RS2469455356	Health Risk	Pathogenic	—
RS74552543	Health Risk	Pathogenic	Jalili syndrome, Jalili syndrome
RS746879923	Health Risk	Pathogenic	Jalili syndrome, Retinal dystrophy, Jalili syndrome
RS752082912	Health Risk	Pathogenic	—
RS757363494	Health Risk	Pathogenic	—

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