text
stringlengths 0
19.2k
|
|---|
- Molecular consequence: SO:0001583: missense_variant
|
- Review status: criteria provided, single submitter
|
- Disease database links: MedGen:C3661900
|
Variant 1476127 (NC_000001.11:g.930281C>T) at 1:930281 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 1140293 (NC_000001.11:g.930282G>A) at 1:930282 G>A in gene SAMD11.
|
- Disease: SAMD11-related_disorder|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 3648675 (NC_000001.11:g.930283G>A) at 1:930283 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 1435698 (NC_000001.11:g.930284C>T) at 1:930284 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 1165489 (NC_000001.11:g.930285G>A) at 1:930285 G>A in gene SAMD11.
|
- Disease: not_provided
|
- Clinical significance: Benign
|
- Variant type: single_nucleotide_variant
|
- Molecular consequence: SO:0001583: missense_variant
|
- Review status: criteria provided, single submitter
|
- Disease database links: MedGen:C3661900
|
Variant 1646781 (NC_000001.11:g.930292C>G) at 1:930292 C>G 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 1505398 (NC_000001.11:g.930312C>G) at 1:930312 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 1484446 (NC_000001.11:g.930312C>T) at 1:930312 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 1671776 (NC_000001.11:g.930313G>A) at 1:930313 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 1170010 (NC_000001.11:g.930314C>T) at 1:930314 C>T in gene SAMD11.
|
- Disease: SAMD11-related_disorder|not_provided
|
- Clinical significance: 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 1547483 (NC_000001.11:g.930316C>T) at 1:930316 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 1002057 (NC_000001.11:g.930317A>G) at 1:930317 A>G in gene SAMD11.
|
- Disease: not_specified|not_provided
|
- Clinical significance: Conflicting_classifications_of_pathogenicity
|
- Variant type: single_nucleotide_variant
|
- Molecular consequence: SO:0001583: missense_variant
|
- Review status: criteria provided, conflicting classifications
|
- Disease database links: MedGen:CN169374|MedGen:C3661900
|