text
stringlengths 0
19.2k
|
---|
Variant 1354897 (NC_000001.11:g.931041T>A) at 1:931041 T>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 1491011 (NC_000001.11:g.931041T>C) at 1:931041 T>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 1170044 (NC_000001.11:g.931042C>T) at 1:931042 C>T in gene SAMD11.
|
- Disease: not_provided|SAMD11-related_disorder
|
- Clinical significance: Benign
|
- Variant type: single_nucleotide_variant
|
- Molecular consequence: SO:0001819: synonymous_variant
|
- Review status: criteria provided, multiple submitters, no conflicts
|
- Disease database links: MedGen:C3661900|.
|
Variant 2047272 (NC_000001.11:g.931043C>T) at 1:931043 C>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 1385724 (NC_000001.11:g.931044A>G) at 1:931044 A>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 943630 (NC_000001.11:g.931049C>T) at 1:931049 C>T 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 852351 (NC_000001.11:g.931050A>G) at 1:931050 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 1097908 (NC_000001.11:g.931051C>T) at 1:931051 C>T 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 1373479 (NC_000001.11:g.931057C>T) at 1:931057 C>T 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 1080861 (NC_000001.11:g.931058G>A) at 1:931058 G>A 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 1609095 (NC_000001.11:g.931066C>T) at 1:931066 C>T 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 3702015 (NC_000001.11:g.931072C>T) at 1:931072 C>T 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 1906908 (NC_000001.11:g.931073C>T) at 1:931073 C>T in gene SAMD11.
|
- Disease: not_provided
|
- Clinical significance: Uncertain_significance
|
- Variant type: single_nucleotide_variant
|