text
stringlengths 0
19.2k
|
|---|
- Molecular consequence: SO:0001587: nonsense
|
- Review status: criteria provided, single submitter
|
- Disease database links: MedGen:C3661900
|
Variant 1047625 (NC_000001.11:g.931074G>A) at 1:931074 G>A in gene SAMD11.
|
- Disease: not_provided|not_specified
|
- Clinical significance: Uncertain_significance
|
- Variant type: single_nucleotide_variant
|
- Molecular consequence: SO:0001583: missense_variant
|
- Review status: criteria provided, multiple submitters, no conflicts
|
- Disease database links: MedGen:C3661900|MedGen:CN169374
|
Variant 1491610 (NC_000001.11:g.931078G>A) at 1:931078 G>A in gene SAMD11.
|
- Disease: not_provided
|
- Clinical significance: Likely_benign
|
- Variant type: single_nucleotide_variant
|
- Molecular consequence: SO:0001819: synonymous_variant
|
- Review status: criteria provided, single submitter
|
- Disease database links: MedGen:C3661900
|
Variant 1158985 (NC_000001.11:g.931081G>A) at 1:931081 G>A in gene SAMD11.
|
- Disease: not_provided
|
- Clinical significance: Likely_benign
|
- Variant type: single_nucleotide_variant
|
- Molecular consequence: SO:0001819: synonymous_variant
|
- Review status: criteria provided, single submitter
|
- Disease database links: MedGen:C3661900
|
Variant 2022979 (NC_000001.11:g.931089G>A) at 1:931089 G>A in gene SAMD11.
|
- Disease: not_provided
|
- Clinical significance: Uncertain_significance
|
- Variant type: single_nucleotide_variant
|
- Molecular consequence: SO:0001583: missense_variant
|
- Review status: criteria provided, single submitter
|
- Disease database links: MedGen:C3661900
|
Variant 2033633 (NC_000001.11:g.931096G>T) at 1:931096 G>T in gene SAMD11.
|
- Disease: not_provided
|
- Clinical significance: Likely_benign
|
- Variant type: single_nucleotide_variant
|
- Molecular consequence: SO:0001627: intron_variant
|
- Review status: criteria provided, single submitter
|
- Disease database links: MedGen:C3661900
|
Variant 1161277 (NC_000001.11:g.931098C>T) at 1:931098 C>T in gene SAMD11.
|
- Disease: not_provided
|
- Clinical significance: Likely_benign
|
- Variant type: single_nucleotide_variant
|
- Molecular consequence: SO:0001627: intron_variant
|
- Review status: criteria provided, single submitter
|
- Disease database links: MedGen:C3661900
|
Variant 1554555 (NC_000001.11:g.931099G>A) at 1:931099 G>A in gene SAMD11.
|
- Disease: not_provided
|
- Clinical significance: Likely_benign
|
- Variant type: single_nucleotide_variant
|
- Molecular consequence: SO:0001627: intron_variant
|
- Review status: criteria provided, single submitter
|
- Disease database links: MedGen:C3661900
|
Variant 1667671 (NC_000001.11:g.931102C>T) at 1:931102 C>T in gene SAMD11.
|
- Disease: not_provided
|
- Clinical significance: Likely_benign
|
- Variant type: single_nucleotide_variant
|
- Molecular consequence: SO:0001627: intron_variant
|
- Review status: criteria provided, single submitter
|
- Disease database links: MedGen:C3661900
|
Variant 3729861 (NC_000001.11:g.931104G>T) at 1:931104 G>T in gene SAMD11.
|
- Disease: not_provided
|
- Clinical significance: Likely_benign
|
- Variant type: single_nucleotide_variant
|
- Molecular consequence: SO:0001627: intron_variant
|
- Review status: criteria provided, single submitter
|
- Disease database links: MedGen:C3661900
|
Variant 1622906 (NC_000001.11:g.931107C>T) at 1:931107 C>T in gene SAMD11.
|
- Disease: not_provided
|
- Clinical significance: Likely_benign
|
- Variant type: single_nucleotide_variant
|
- Molecular consequence: SO:0001627: intron_variant
|
- Review status: criteria provided, single submitter
|
- Disease database links: MedGen:C3661900
|
Variant 1646784 (NC_000001.11:g.931108G>A) at 1:931108 G>A in gene SAMD11.
|
- Disease: not_provided
|
- Clinical significance: Likely_benign
|
- Variant type: single_nucleotide_variant
|
- Molecular consequence: SO:0001627: intron_variant
|
- Review status: criteria provided, single submitter
|
- Disease database links: MedGen:C3661900
|
Variant 1635319 (NC_000001.11:g.935756C>T) at 1:935756 C>T in gene SAMD11.
|
- Disease: not_provided
|
- Clinical significance: Likely_benign
|
- Variant type: single_nucleotide_variant
|
- Molecular consequence: SO:0001627: intron_variant
|
- Review status: criteria provided, single submitter
|
- Disease database links: MedGen:C3661900
|
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.