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19.2k
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- Molecular consequence: SO:0001627: intron_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 2957935 (NC_000001.11:g.926026G>T) at 1:926026 G>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:0001627: intron_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 1561208 (NC_000001.11:g.926027C>T) at 1:926027 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:0001627: intron_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 1624593 (NC_000001.11:g.926029C>T) at 1:926029 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:0001627: intron_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 3038970 (NC_000001.11:g.930090TTCCTCTCCTCCTGCCCCACC[2]) at 1:930081 AGCCCCACCTTCCTCTCCTCCT>A in gene SAMD11.
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- Disease: SAMD11-related_disorder
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- Clinical significance: Likely_benign
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- Variant type: Microsatellite
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- Molecular consequence: SO:0001627: intron_variant
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- Review status: no assertion criteria provided
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- Disease database links: .
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Variant 1541757 (NC_000001.11:g.930136T>C) at 1:930136 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:0001627: intron_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 1658573 (NC_000001.11:g.930139CCT[1]) at 1:930136 TCTC>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: Microsatellite
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- Molecular consequence: SO:0001627: intron_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 1125147 (NC_000001.11:g.930139C>T) at 1:930139 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:0001627: intron_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 1502618 (NC_000001.11:g.930158C>T) at 1:930158 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 1547384 (NC_000001.11:g.930163G>A) at 1:930163 G>A in gene SAMD11.
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- Disease: SAMD11-related_disorder|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 1923853 (NC_000001.11:g.930164C>T) at 1:930164 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 1164676 (NC_000001.11:g.930165G>A) at 1:930165 G>A in gene SAMD11.
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- Disease: SAMD11-related_disorder|not_provided
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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, single submitter
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- Disease database links: .|MedGen:C3661900
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Variant 3436941 (NC_000001.11:g.930183C>T) at 1:930183 C>T 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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