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Variant 1365924 (NC_000001.11:g.930186T>C) at 1:930186 T>C in gene SAMD11.
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- Disease: not_provided
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- Clinical significance: Uncertain_significance
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- Variant type: single_nucleotide_variant
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- Molecular consequence: SO:0001583: missense_variant
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- Review status: criteria provided, single submitter
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- Disease database links: MedGen:C3661900
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Variant 1144630 (NC_000001.11:g.930187C>T) at 1:930187 C>T in gene SAMD11.
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- Disease: not_provided
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- Clinical significance: Likely_benign
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- Variant type: single_nucleotide_variant
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- Molecular consequence: SO:0001819: synonymous_variant
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- Review status: criteria provided, single submitter
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- Disease database links: MedGen:C3661900
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Variant 846933 (NC_000001.11:g.930188G>A) at 1:930188 G>A in gene SAMD11.
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- Disease: not_provided
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- Clinical significance: Uncertain_significance
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- Variant type: single_nucleotide_variant
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- Molecular consequence: SO:0001583: missense_variant
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- Review status: criteria provided, single submitter
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- Disease database links: MedGen:C3661900
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Variant 1478180 (NC_000001.11:g.930189C>T) at 1:930189 C>T in gene SAMD11.
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- Disease: not_provided
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- Clinical significance: Uncertain_significance
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- Variant type: single_nucleotide_variant
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- Molecular consequence: SO:0001583: missense_variant
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- Review status: criteria provided, single submitter
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- Disease database links: MedGen:C3661900
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Variant 1380424 (NC_000001.11:g.930195C>G) at 1:930195 C>G in gene SAMD11.
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- Disease: not_provided
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- Clinical significance: Uncertain_significance
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- Variant type: single_nucleotide_variant
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- Molecular consequence: SO:0001583: missense_variant
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- Review status: criteria provided, single submitter
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- Disease database links: MedGen:C3661900
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Variant 1354167 (NC_000001.11:g.930195C>T) at 1:930195 C>T in gene SAMD11.
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- Disease: not_provided
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- Clinical significance: Uncertain_significance
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- Variant type: single_nucleotide_variant
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- Molecular consequence: SO:0001583: missense_variant
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- Review status: criteria provided, single submitter
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- Disease database links: MedGen:C3661900
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Variant 1095790 (NC_000001.11:g.930199C>T) at 1:930199 C>T in gene SAMD11.
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- Disease: not_provided
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- Clinical significance: Likely_benign
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- Variant type: single_nucleotide_variant
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- Molecular consequence: SO:0001819: synonymous_variant
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- Review status: criteria provided, single submitter
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- Disease database links: MedGen:C3661900
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Variant 1043045 (NC_000001.11:g.930200G>A) at 1:930200 G>A in gene SAMD11.
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- Disease: not_provided|not_specified
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- Clinical significance: Conflicting_classifications_of_pathogenicity
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- Variant type: single_nucleotide_variant
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- Molecular consequence: SO:0001583: missense_variant
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- Review status: criteria provided, conflicting classifications
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- Disease database links: MedGen:C3661900|MedGen:CN169374
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Variant 2012623 (NC_000001.11:g.930201C>T) at 1:930201 C>T in gene SAMD11.
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- Disease: not_provided
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- Clinical significance: Uncertain_significance
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- Variant type: single_nucleotide_variant
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- Molecular consequence: SO:0001583: missense_variant
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- Review status: criteria provided, single submitter
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- Disease database links: MedGen:C3661900
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Variant 972363 (NC_000001.11:g.930203C>T) at 1:930203 C>T in gene SAMD11.
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- Disease: not_specified|not_provided
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- Clinical significance: Uncertain_significance
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- Variant type: single_nucleotide_variant
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- Molecular consequence: SO:0001583: missense_variant
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- Review status: criteria provided, multiple submitters, no conflicts
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- Disease database links: MedGen:CN169374|MedGen:C3661900
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Variant 1170208 (NC_000001.11:g.930204G>A) at 1:930204 G>A in gene SAMD11.
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- Disease: not_provided|SAMD11-related_disorder
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- Clinical significance: Benign
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- Variant type: single_nucleotide_variant
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- Molecular consequence: SO:0001583: missense_variant
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- Review status: criteria provided, multiple submitters, no conflicts
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- Disease database links: MedGen:C3661900|.
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Variant 1653547 (NC_000001.11:g.930209C>T) at 1:930209 C>T in gene SAMD11.
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- Disease: not_provided
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- Clinical significance: Likely_benign
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- Variant type: single_nucleotide_variant
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- Molecular consequence: SO:0001819: synonymous_variant
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- Review status: criteria provided, single submitter
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- Disease database links: MedGen:C3661900
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Variant 2059344 (NC_000001.11:g.930212AAG[1]) at 1:930210 TGAA>T in gene SAMD11.
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- Disease: not_provided
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- Clinical significance: Uncertain_significance
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- Variant type: Microsatellite
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