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Variant 789256 (NC_000001.11:g.930248G>A) at 1:930248 G>A in gene SAMD11.
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- Disease: not_provided|SAMD11-related_disorder
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- Clinical significance: Likely_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 3791854 (NC_000001.11:g.930253C>A) at 1:930253 C>A in gene SAMD11.
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- Disease: not_specified
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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:CN169374
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Variant 2998369 (NC_000001.11:g.930256C>T) at 1:930256 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 1652015 (NC_000001.11:g.930259C>T) at 1:930259 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 1499045 (NC_000001.11:g.930260G>A) at 1:930260 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 2631721 (NC_000001.11:g.930261G>A) at 1:930261 G>A in gene SAMD11.
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- Disease: SAMD11-related_disorder
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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: .
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Variant 1473769 (NC_000001.11:g.930261G>C) at 1:930261 G>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 1534041 (NC_000001.11:g.930262G>A) at 1:930262 G>A 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 1919925 (NC_000001.11:g.930265T>C) at 1:930265 T>C 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 1368373 (NC_000001.11:g.930265T>G) at 1:930265 T>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 1672121 (NC_000001.11:g.930274C>T) at 1:930274 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 969662 (NC_000001.11:g.930275T>G) at 1:930275 T>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 1993184 (NC_000001.11:g.930279G>A) at 1:930279 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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