GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CACNA1C A39Vinsufficiently evaluated pathogenicunknown

(47 web hits)

CACNA1C I304Tinsufficiently evaluated not reviewed, f=0.001unknown var-GS10851-1100-36-ASM
CACNA1C G402Sinsufficiently evaluated pathogenicunknown

(34 web hits)

CACNA1C G406Rinsufficiently evaluated pathogenicunknown

(67 web hits)

CACNA1C G490Rpathogenic, f=0.000dominant

This rare variant has been reported to cause Brugada syndrome (a major cause of sudden unexplained death) with shorter than normal QT intervals. A single patient with Turkish ancestry was reported, and no controls mentioned. Observations associating this variant with the disease have not been statistically significant, although this could be due to the rarity of the variant.

(47 web hits)

CACNA1C S723Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS19669-1100-36-ASM
CACNA1C P814Sinsufficiently evaluated not reviewedunknown
CACNA1C P817Sinsufficiently evaluated not reviewed, f=0.003unknown CGI sample GS00253-DNA_F01_200_37
CACNA1C G856Sinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
CACNA1C I1315Vinsufficiently evaluated not reviewed, f=0.002unknown var-GS18504-1100-36-ASM
CACNA1C R1704Hinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
CACNA1C G1762Sinsufficiently evaluated not reviewedunknown var-GS19026-1100-36-ASM
CACNA1C P1820Linsufficiently evaluated not reviewedunknown

(5 web hits)

hu728FFF build 36 substitution variants
CACNA1C M1821Vinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants
CACNA1C T1835Minsufficiently evaluated not reviewed, f=0.004unknown var-GS19020-1100-36-ASM
CACNA1C G1843Rinsufficiently evaluated not reviewed, f=0.015unknown var-GS19020-1100-36-ASM
CACNA1C K1845Rinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
CACNA1C P1868Linsufficiently evaluated not reviewedunknown

(1 web hit)

hu728FFF build 36 substitution variants
CACNA1C M1869Vinsufficiently evaluated not reviewedunknown

(1 web hit)

hu728FFF build 36 substitution variants
CACNA1C K1893Rinsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
CACNA1C R1895Xinsufficiently evaluated pathogenicdominant

This is a nonsense mutation which eliminates the terminal ~10% of this protein. There are no reports regarding this variant. Other mutations in this gene are associated with causing Timothy Syndrome and Brugada Syndrome in a dominant manner, but all variants in OMIM occur on amino acids preceding this one (closest is 490). Based on the severity of a nonsense mutation and the associations of this gene with severe disease, we tentatively classify this as pathogenic and dominant, but it has an one unconfirmed report in a healthy genome sequence.

CACNA1C R1903Xinsufficiently evaluated pathogenicdominant

This is a nonsense mutation which eliminates the terminal ~10% of this protein. There are no reports regarding this variant. Other mutations in this gene are associated with causing Timothy Syndrome and Brugada Syndrome in a dominant manner, but all variants in OMIM occur on amino acids preceding this one (closest is ). Based on the severity of a nonsense mutation and the associations of this gene with severe disease, we tentatively classify this as pathogenic and dominant, but it has an one unconfirmed report in a healthy genome sequence.

CACNA1C R1906Xinsufficiently evaluated pathogenicdominant

This is a nonsense mutation which eliminates the terminal ~10% of this protein. There are no reports regarding this variant. Other mutations in this gene are associated with causing Timothy Syndrome and Brugada Syndrome in a dominant manner, but all variants in OMIM occur on amino acids preceding this one (closest is ). Based on the severity of a nonsense mutation and the associations of this gene with severe disease, we tentatively classify this as pathogenic and dominant, but it has an one unconfirmed report in a healthy genome sequence.

CACNA1C R1912Xinsufficiently evaluated pathogenicdominant

This is a nonsense mutation which eliminates the terminal ~10% of this protein. There are no reports regarding this variant. Other mutations in this gene are associated with causing Timothy Syndrome and Brugada Syndrome in a dominant manner, but all variants in OMIM occur on amino acids preceding this one (closest is 490). Based on the severity of a nonsense mutation and the associations of this gene with severe disease, we tentatively classify this as pathogenic and dominant, but it has an one unconfirmed report in a healthy genome sequence.

CACNA1C R1914Xinsufficiently evaluated pathogenicdominant

This is a nonsense mutation which eliminates the terminal ~10% of this protein. There are no reports regarding this variant. Other mutations in this gene are associated with causing Timothy Syndrome and Brugada Syndrome in a dominant manner, but all variants in OMIM occur on amino acids preceding this one (closest is 490). Based on the severity of a nonsense mutation and the associations of this gene with severe disease, we tentatively classify this as pathogenic and dominant, but it has an one unconfirmed report in a healthy genome sequence.

CACNA1C T1918Minsufficiently evaluated not reviewed, f=0.001unknown var-GS18526-1100-36-ASM
CACNA1C R1923Xinsufficiently evaluated pathogenicdominant

This is a nonsense mutation which eliminates the terminal ~10% of this protein. There are no reports regarding this variant. Other mutations in this gene are associated with causing Timothy Syndrome and Brugada Syndrome in a dominant manner, but all variants in OMIM occur on amino acids preceding this one (closest is 490). Based on the severity of a nonsense mutation and the associations of this gene with severe disease, we tentatively classify this as pathogenic and dominant, but it has an one unconfirmed report in a healthy genome sequence.

CACNA1C R1925Xinsufficiently evaluated pathogenicdominant

This is a nonsense mutation which eliminates the terminal ~10% of this protein. There are no reports regarding this variant. Other mutations in this gene are associated with causing Timothy Syndrome and Brugada Syndrome in a dominant manner, but all variants in OMIM occur on amino acids preceding this one (closest is 490). Based on the severity of a nonsense mutation and the associations of this gene with severe disease, we tentatively classify this as pathogenic and dominant, but it has an one unconfirmed report in a healthy genome sequence.

CACNA1C R1926Xinsufficiently evaluated pathogenicdominant

This is a nonsense mutation which eliminates the terminal ~10% of this protein. There are no reports regarding this variant. Other mutations in this gene are associated with causing Timothy Syndrome and Brugada Syndrome in a dominant manner, but all variants in OMIM occur on amino acids preceding this one (closest is 490). Based on the severity of a nonsense mutation and the associations of this gene with severe disease, we tentatively classify this as pathogenic and dominant, but it has an one unconfirmed report in a healthy genome sequence.

CACNA1C R1934Xinsufficiently evaluated noneunknown
CACNA1C R1941Xinsufficiently evaluated noneunknown
CACNA1C R1947Xinsufficiently evaluated noneunknown
CACNA1C R1954Xinsufficiently evaluated noneunknown
CACNA1C Q1964Rinsufficiently evaluated not reviewed, f=0.008unknown var-GS18555-1100-36-ASM
CACNA1C R1989Xinsufficiently evaluated noneunknown
CACNA1C R2021Qinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CACNA1C A2072Shiftinsufficiently evaluated not reviewedunknown CGI sample GS000006909
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Total results: 37

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