text
stringlengths 0
19.2k
|
|---|
Variant 1659403 (NC_000001.11:g.935757G>A) at 1:935757 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 1127328 (NC_000001.11:g.935763G>A) at 1:935763 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 1158587 (NC_000001.11:g.935763G>T) at 1:935763 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 2125016 (NC_000001.11:g.935765T>C) at 1:935765 T>C 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 1169977 (NC_000001.11:g.935766C>T) at 1:935766 C>T in gene SAMD11.
|
- Disease: not_provided
|
- Clinical significance: Benign
|
- Variant type: single_nucleotide_variant
|
- Molecular consequence: SO:0001627: intron_variant
|
- Review status: criteria provided, single submitter
|
- Disease database links: MedGen:C3661900
|
Variant 1161254 (NC_000001.11:g.935775G>A) at 1:935775 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 1150763 (NC_000001.11:g.935778C>T) at 1:935778 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 1167937 (NC_000001.11:g.935779G>A) at 1:935779 G>A in gene SAMD11.
|
- Disease: SAMD11-related_disorder|not_provided
|
- Clinical significance: Benign/Likely_benign
|
- Variant type: single_nucleotide_variant
|
- Molecular consequence: SO:0001583: missense_variant
|
- Review status: criteria provided, multiple submitters, no conflicts
|
- Disease database links: .|MedGen:C3661900
|
Variant 3316075 (NC_000001.11:g.935785C>T) at 1:935785 C>T 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 1297123 (NC_000001.11:g.935788C>T) at 1:935788 C>T in gene SAMD11.
|
- Disease: Retinitis_pigmentosa
|
- Clinical significance: Uncertain_significance
|
- Variant type: single_nucleotide_variant
|
- Molecular consequence: SO:0001583: missense_variant
|
- Review status: criteria provided, single submitter
|
- Disease database links: Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791
|
Variant 1484814 (NC_000001.11:g.935792C>G) at 1:935792 C>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 1111030 (NC_000001.11:g.935793C>T) at 1:935793 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 1169805 (NC_000001.11:g.935796C>T) at 1:935796 C>T in gene SAMD11.
|
- Disease: not_provided
|
- Clinical significance: Benign
|
- Variant type: single_nucleotide_variant
|