ERCC6L2 Chromosome 9

ERCC excision repair 6 like 2

56 variants 56 Health Risk

Upload your DNA to see your personal genotypes for variants in ERCC6L2.

What This Gene Does

This gene encodes a member of the Snf2 family of helicase-like proteins. The encoded protein may play a role in DNA repair and mitochondrial function. Mutations in this gene have been associated with bone marrow failure syndrome 2. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Apr 2014]

Gene Info

Gene Group

SNF2 related family

Locus Type

gene with protein product

Location

9q22.32

Ensembl

ENSG00000182150

Associated Conditions (8)

Pancytopenia-developmental delay syndrome

Inborn genetic diseases

ERCC6L2-related disorder

Hereditary cancer

Thrombocytopenia

Bone marrow hypocellularity

Hereditary cancer-predisposing syndrome

Premature ovarian insufficiency

Key Variants

RS1327824700

Conflicting classifications of pathogenicity

Health Risk

RS141719745

Conflicting classifications of pathogenicity

Pancytopenia-developmental delay syndrome, Inborn genetic diseases, Pancytopenia-developmental delay syndrome

Health Risk

RS146034461

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS146075543

Conflicting classifications of pathogenicity

Inborn genetic diseases, ERCC6L2-related disorder, Pancytopenia-developmental delay syndrome

Health Risk

RS146551545

Conflicting classifications of pathogenicity

Inborn genetic diseases, ERCC6L2-related disorder, Inborn genetic diseases

Health Risk

RS147269000

Conflicting classifications of pathogenicity

Health Risk

RS148041136

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS150328847

Conflicting classifications of pathogenicity

Health Risk

RS538392483

Conflicting classifications of pathogenicity

Inborn genetic diseases, ERCC6L2-related disorder, Inborn genetic diseases

Health Risk

RS61746533

Conflicting classifications of pathogenicity

Health Risk

RS61748989

Conflicting classifications of pathogenicity

Inborn genetic diseases, Hereditary cancer, Inborn genetic diseases

Health Risk

RS752189445

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

All Variants (56)

RSID	Category	Clinical Significance	Conditions
RS1327824700	Health Risk	Conflicting classifications of pathogenicity	—
RS141719745	Health Risk	Conflicting classifications of pathogenicity	Pancytopenia-developmental delay syndrome, Inborn genetic diseases, Pancytopenia-developmental delay syndrome
RS146034461	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS146075543	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, ERCC6L2-related disorder, Pancytopenia-developmental delay syndrome
RS146551545	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, ERCC6L2-related disorder, Inborn genetic diseases
RS147269000	Health Risk	Conflicting classifications of pathogenicity	ERCC6L2-related disorder, Pancytopenia-developmental delay syndrome, ERCC6L2-related disorder
RS148041136	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS150328847	Health Risk	Conflicting classifications of pathogenicity	ERCC6L2-related disorder, Inborn genetic diseases, ERCC6L2-related disorder
RS538392483	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, ERCC6L2-related disorder, Inborn genetic diseases
RS61746533	Health Risk	Conflicting classifications of pathogenicity	ERCC6L2-related disorder, Inborn genetic diseases, ERCC6L2-related disorder
RS61748989	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Hereditary cancer, Inborn genetic diseases
RS752189445	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS754561683	Health Risk	Conflicting classifications of pathogenicity	Pancytopenia-developmental delay syndrome, Pancytopenia-developmental delay syndrome
RS756006048	Health Risk	Conflicting classifications of pathogenicity	—
RS953232395	Health Risk	Conflicting classifications of pathogenicity	—
RS1480433270	Health Risk	Likely pathogenic	ERCC6L2-related disorder, ERCC6L2-related disorder
RS1588013817	Health Risk	Likely pathogenic	Pancytopenia-developmental delay syndrome, Pancytopenia-developmental delay syndrome
RS1829557865	Health Risk	Likely pathogenic	—
RS1829859149	Health Risk	Likely pathogenic	—
RS2132792543	Health Risk	Likely pathogenic	Pancytopenia-developmental delay syndrome, Pancytopenia-developmental delay syndrome
RS2133079257	Health Risk	Likely pathogenic	Thrombocytopenia, Thrombocytopenia
RS2133080742	Health Risk	Likely pathogenic	Bone marrow hypocellularity, Bone marrow hypocellularity
RS2133081935	Health Risk	Likely pathogenic	Bone marrow hypocellularity, Bone marrow hypocellularity
RS2133202969	Health Risk	Likely pathogenic	—
RS2490496458	Health Risk	Likely pathogenic	Pancytopenia-developmental delay syndrome, Pancytopenia-developmental delay syndrome
RS2490562078	Health Risk	Likely pathogenic	Pancytopenia-developmental delay syndrome, Pancytopenia-developmental delay syndrome
RS2490598994	Health Risk	Likely pathogenic	ERCC6L2-related disorder, ERCC6L2-related disorder
RS1046789934	Health Risk	Pathogenic	—
RS1184619416	Health Risk	Pathogenic	—
RS1207761117	Health Risk	Pathogenic	—
RS1226402321	Health Risk	Pathogenic	Pancytopenia-developmental delay syndrome, Pancytopenia-developmental delay syndrome
RS1290453614	Health Risk	Pathogenic	—
RS1336842896	Health Risk	Pathogenic	—
RS1472318634	Health Risk	Pathogenic	—
RS147948835	Health Risk	Pathogenic	Pancytopenia-developmental delay syndrome, Hereditary cancer-predisposing syndrome, Pancytopenia-developmental delay syndrome
RS1829555179	Health Risk	Pathogenic	ERCC6L2-related disorder, ERCC6L2-related disorder
RS1829591905	Health Risk	Pathogenic	—
RS2133203419	Health Risk	Pathogenic	—
RS2490122116	Health Risk	Pathogenic	—
RS2490144577	Health Risk	Pathogenic	—
RS2490183656	Health Risk	Pathogenic	—
RS2490553149	Health Risk	Pathogenic	—
RS2490562660	Health Risk	Pathogenic	—
RS2490599065	Health Risk	Pathogenic	—
RS369124504	Health Risk	Pathogenic	—
RS752184595	Health Risk	Pathogenic	—
RS764007539	Health Risk	Pathogenic	ERCC6L2-related disorder, ERCC6L2-related disorder
RS768066139	Health Risk	Pathogenic	—
RS770250664	Health Risk	Pathogenic	—
RS773562442	Health Risk	Pathogenic	—

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