text
stringlengths 0
19.2k
|
|---|
Variant 1359546 (NC_000001.11:g.930320C>G) at 1:930320 C>G 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 1099322 (NC_000001.11:g.930320C>T) at 1:930320 C>T in gene SAMD11.
|
- Disease: not_provided
|
- Clinical significance: Likely_benign
|
- Variant type: single_nucleotide_variant
|
- Molecular consequence: SO:0001583: missense_variant
|
- Review status: criteria provided, single submitter
|
- Disease database links: MedGen:C3661900
|
Variant 1002043 (NC_000001.11:g.930321G>A) at 1:930321 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 1478458 (NC_000001.11:g.930321G>T) at 1:930321 G>T 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 1367641 (NC_000001.11:g.930323A>G) at 1:930323 A>G 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 3157634 (NC_000001.11:g.930324T>C) at 1:930324 T>C in gene SAMD11.
|
- Disease: not_specified
|
- 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:CN169374
|
Variant 1168187 (NC_000001.11:g.930325C>T) at 1:930325 C>T in gene SAMD11.
|
- Disease: SAMD11-related_disorder|not_provided
|
- Clinical significance: Benign
|
- Variant type: single_nucleotide_variant
|
- Molecular consequence: SO:0001819: synonymous_variant
|
- Review status: criteria provided, single submitter
|
- Disease database links: .|MedGen:C3661900
|
Variant 3157635 (NC_000001.11:g.930327T>C) at 1:930327 T>C in gene SAMD11.
|
- Disease: not_specified
|
- 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:CN169374
|
Variant 2025454 (NC_000001.11:g.930329_930330del) at 1:930328 GAA>G in gene SAMD11.
|
- Disease: not_provided
|
- Clinical significance: Uncertain_significance
|
- Variant type: Deletion
|
- Molecular consequence: SO:0001589: frameshift_variant
|
- Review status: criteria provided, single submitter
|
- Disease database links: MedGen:C3661900
|
Variant 1445934 (NC_000001.11:g.930330A>C) at 1:930330 A>C 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 843786 (NC_000001.11:g.930336G>A) at 1:930336 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 1934773 (NC_000001.11:g.930337G>A) at 1:930337 G>A in gene SAMD11.
|
- Disease: not_provided
|
- Clinical significance: Uncertain_significance
|
- Variant type: single_nucleotide_variant
|
- Molecular consequence: SO:0001575: splice_donor_variant
|
- Review status: criteria provided, single submitter
|
- Disease database links: MedGen:C3661900
|
Variant 2028428 (NC_000001.11:g.930343G>A) at 1:930343 G>A in gene SAMD11.
|
- Disease: not_provided
|
- Clinical significance: Likely_benign
|
- Variant type: single_nucleotide_variant
|