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19.2k
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- Molecular consequence: SO:0001822: inframe_deletion
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- Review status: criteria provided, single submitter
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- Disease database links: MedGen:C3661900
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Variant 1409578 (NC_000001.11:g.930215A>G) at 1:930215 A>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 1523336 (NC_000001.11:g.930218G>A) at 1:930218 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 1667751 (NC_000001.11:g.930220G>A) at 1:930220 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 2133131 (NC_000001.11:g.930221C>T) at 1:930221 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:0001587: nonsense
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- Review status: criteria provided, single submitter
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- Disease database links: MedGen:C3661900
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Variant 998906 (NC_000001.11:g.930222_930227delinsTTCTTCTG) at 1:930222 GAACTC>TTCTTCTG in gene SAMD11.
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- Disease: not_provided
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- Clinical significance: Uncertain_significance
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- Variant type: Indel
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- Molecular consequence: SO:0001589: frameshift_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 2081213 (NC_000001.11:g.930226T>G) at 1:930226 T>G 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 1715702 (NC_000001.11:g.930228C>G) at 1:930228 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 2122561 (NC_000001.11:g.930230A>G) at 1:930230 A>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 2876353 (NC_000001.11:g.930235C>T) at 1:930235 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 1497763 (NC_000001.11:g.930243G>A) at 1:930243 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 1131472 (NC_000001.11:g.930245G>A) at 1:930245 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, single submitter
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- Disease database links: MedGen:C3661900|.
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Variant 1145077 (NC_000001.11:g.930247T>C) at 1:930247 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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