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Items: 1 to 100 of 2989

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A2ML1, A2ML1-AS1
+477 more
Deletion
Tumoral calcinosis, hyperphosphatemic, familial, 1
Gnot provided
ACRBP, ADIPOR2
+348 more
Copy number gain
See cases
GPathogenic
ADIPOR2, B4GALNT3
+142 more
Copy number loss
See cases
GPathogenic
LOC126861417, LOC126861418
+147 more
Copy number loss
See cases
GPathogenic
A2M, A2M-AS1
+1258 more
Copy number gain
See cases
GPathogenic
ADIPOR2, B4GALNT3
+101 more
Copy number loss
See cases
GPathogenic
A2M, A2M-AS1
+1258 more
Copy number gain
See cases
GPathogenic
LOC130007649, LOC130007650
+1258 more
Copy number gain
See cases
GPathogenic
ADIPOR2, B4GALNT3
+170 more
Copy number loss
See cases
GPathogenic
LOC102723544, LOC105369595
+114 more
Copy number loss
See cases
GPathogenic
LOC124625919, LOC124625920
+1009 more
Copy number gain
See cases
GPathogenic
ADIPOR2, B4GALNT3
+123 more
Copy number loss
See cases
GPathogenic
A2M, A2M-AS1
+1257 more
Copy number gain
See cases
GPathogenic
ADIPOR2, B4GALNT3
+146 more
Copy number loss
See cases
GPathogenic
LOC126861648, LOC126861649
+4836 more
Copy number gain
See cases
GPathogenic
LOC130007425, LOC130007426
+1257 more
Copy number gain
See cases
GPathogenic
ADIPOR2, AKAP3
+218 more
Copy number loss
See cases
GPathogenic
ADIPOR2, B4GALNT3
+126 more
Copy number gain
See cases
GPathogenic
WBP11, WNK1
+1242 more
Copy number gain
See cases
GPathogenic
LOC130007148, LOC130007149
+223 more
Copy number gain
See cases
GPathogenic
PRB2, PRB3
+853 more
Copy number gain
See cases
GPathogenic
ADIPOR2, CACNA1C
+49 more
Copy number gain
See cases
GUncertain significance
ADIPOR2, CACNA1C
+22 more
Copy number gain
See cases
GUncertain significance
CACNA1C, DCP1B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CACNA1C, DCP1B
(Y27C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CACNA1C
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
CACNA1C
Single nucleotide variant
(5 prime UTR variant)
Brugada syndrome
+1 more
GUncertain significance
CACNA1C
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
CACNA1C
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
CACNA1C
Deletion
(5 prime UTR variant)
not provided
GBenign
CACNA1C
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
CACNA1C
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
LOC126861417, LOC126861418
+6 more
Duplication
Long QT syndrome
GUncertain significance
CACNA1C
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CACNA1C
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GUncertain significance
CACNA1C
(M1V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CACNA1C
(M1L)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability
GUncertain significance
CACNA1C
(M1T)
Single nucleotide variant
(missense variant +1 more)
Long qt syndrome 8
+5 more
GConflicting classifications of pathogenicity
CACNA1C
(M1I)
Single nucleotide variant
(missense variant +1 more)
Long QT syndrome
GUncertain significance
CACNA1C
(M1I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CACNA1C
(N3del)
Deletion
(inframe_deletion)
Cardiovascular phenotype
GUncertain significance
CACNA1C
(E4D)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
CACNA1C
(N5H)
Single nucleotide variant
(missense variant)
Long QT syndrome
+4 more
GUncertain significance
CACNA1C
(N5S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
CACNA1C
(T6fs)
Deletion
(frameshift variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
CACNA1C
(T6M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
CACNA1C
(T6R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
CACNA1C
Single nucleotide variant
(synonymous variant)
Long QT syndrome
GLikely benign
CACNA1C
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CACNA1C
(R7T)
Single nucleotide variant
(missense variant)
Long QT syndrome
GLikely benign
CACNA1C
(R7S)
Single nucleotide variant
(missense variant)
Long QT syndrome
GLikely benign
CACNA1C
Single nucleotide variant
(synonymous variant)
Long QT syndrome
GLikely benign
CACNA1C
Single nucleotide variant
(synonymous variant)
Long QT syndrome
GLikely benign
CACNA1C
(P11fs)
Deletion
(frameshift variant)
Conduction disorder of the heart
GLikely pathogenic
CACNA1C
Single nucleotide variant
(synonymous variant)
Long QT syndrome
GLikely benign
CACNA1C
(E12V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GLikely benign
CACNA1C
(E13K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1C
Single nucleotide variant
(synonymous variant)
Long QT syndrome
GLikely benign
CACNA1C
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
CACNA1C
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
GUncertain significance
CACNA1C
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
GUncertain significance
CACNA1C
Single nucleotide variant
(intron variant)
Long QT syndrome
GUncertain significance
CACNA1C
Single nucleotide variant
(intron variant)
Long QT syndrome
GLikely benign
CACNA1C
Single nucleotide variant
(intron variant)
Long QT syndrome
GLikely benign
CACNA1C
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CACNA1C
Single nucleotide variant
(intron variant)
Long QT syndrome
GBenign
CACNA1C
Single nucleotide variant
(intron variant)
Long QT syndrome
GBenign
CACNA1C
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
CACNA1C
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
CACNA1C
Single nucleotide variant
(intron variant)
Long QT syndrome
GLikely benign
CACNA1C
Single nucleotide variant
(intron variant)
Long QT syndrome
GLikely benign
CACNA1C
Single nucleotide variant
(intron variant)
Long QT syndrome
GLikely benign
CACNA1C
Single nucleotide variant
(intron variant)
Long QT syndrome
GLikely benign
CACNA1C
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
CACNA1C
Single nucleotide variant
(splice acceptor variant)
Long QT syndrome
GUncertain significance
CACNA1C
(G17A)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
CACNA1C
(G17D)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
CACNA1C
(S18F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1C
Single nucleotide variant
(synonymous variant)
Long QT syndrome
+1 more
GLikely benign
CACNA1C
(Y20C)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GConflicting classifications of pathogenicity
CACNA1C
Single nucleotide variant
(synonymous variant)
Long QT syndrome
GLikely benign
CACNA1C
(G21A)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
CACNA1C
(S22N)
Single nucleotide variant
(missense variant)
Long QT syndrome
+1 more
GUncertain significance
CACNA1C
(S22I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
CACNA1C
Single nucleotide variant
(synonymous variant)
Long QT syndrome
GLikely benign
CACNA1C
Single nucleotide variant
(synonymous variant)
Long QT syndrome
GLikely benign
CACNA1C
(R24C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CACNA1C
(R24H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CACNA1C
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GLikely benign
CACNA1C
(A26T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
CACNA1C
(A26V)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
CACNA1C
(A28T)
Single nucleotide variant
(missense variant)
Long qt syndrome 8
+4 more
GConflicting classifications of pathogenicity
CACNA1C
(M30V)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
CACNA1C
(N31D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CACNA1C
(N31S)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
CACNA1C
(A32V)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
CACNA1C
(A32G)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
CACNA1C
(N33T)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
CACNA1C
(N33S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
CACNA1C
(A34E)
Single nucleotide variant
(missense variant)
Long QT syndrome
GUncertain significance
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