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Items: 1 to 100 of 142

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129390832, LOC130060171
+141 more
Deletion
Li-Fraumeni syndrome
GPathogenic
KCNAB3, KDM6B
+141 more
Deletion
Li-Fraumeni syndrome
+2 more
GPathogenic
RANGRF, SLC25A35
(M1K)
Single nucleotide variant
(missense variant +4 more)
Cardiac arrhythmia
GUncertain significance
RANGRF, SLC25A35
(E2G)
Single nucleotide variant
(missense variant +3 more)
Cardiac arrhythmia
GUncertain significance
RANGRF, SLC25A35
(T4R)
Single nucleotide variant
(missense variant +3 more)
Cardiac arrhythmia
GUncertain significance
RANGRF, SLC25A35
Single nucleotide variant
(synonymous variant +3 more)
Cardiac arrhythmia
GLikely benign
RANGRF, SLC25A35
(D6fs)
Microsatellite
(frameshift variant +3 more)
Cardiac arrhythmia
+1 more
GUncertain significance
RANGRF, SLC25A35
(C7F)
Single nucleotide variant
(missense variant +3 more)
Cardiac arrhythmia
GUncertain significance
RANGRF, SLC25A35
Single nucleotide variant
(synonymous variant +3 more)
Cardiac arrhythmia
GLikely benign
RANGRF, SLC25A35
Single nucleotide variant
(synonymous variant +3 more)
not provided
+1 more
GLikely benign
RANGRF, SLC25A35
(G12D)
Single nucleotide variant
(missense variant +3 more)
Cardiac arrhythmia
GUncertain significance
RANGRF, SLC25A35
(I17N)
Single nucleotide variant
(missense variant +3 more)
Cardiac arrhythmia
GUncertain significance
SLC25A35, RANGRF
(L18I)
Single nucleotide variant
(missense variant +3 more)
Cardiac arrhythmia
GUncertain significance
RANGRF, SLC25A35
(L18F)
Single nucleotide variant
(missense variant +3 more)
Cardiac arrhythmia
+1 more
GUncertain significance
RANGRF, SLC25A35
Single nucleotide variant
(synonymous variant +3 more)
Cardiac arrhythmia
GLikely benign
RANGRF, SLC25A35
(M20L)
Single nucleotide variant
(missense variant +3 more)
Cardiac arrhythmia
GUncertain significance
SLC25A35, RANGRF
(M20T)
Single nucleotide variant
(missense variant +3 more)
Cardiac arrhythmia
GUncertain significance
RANGRF, SLC25A35
(A22fs)
Duplication
(frameshift variant +3 more)
Cardiac arrhythmia
GUncertain significance
SLC25A35, RANGRF
(I23V)
Single nucleotide variant
(missense variant +3 more)
Cardiac arrhythmia
GUncertain significance
RANGRF, SLC25A35
Single nucleotide variant
(non-coding transcript variant +3 more)
Cardiac arrhythmia
GLikely benign
RANGRF, SLC25A35
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+1 more
GUncertain significance
RANGRF, SLC25A35
Single nucleotide variant
(3 prime UTR variant +2 more)
Cardiac arrhythmia
GLikely benign
SLC25A35, RANGRF
Single nucleotide variant
(3 prime UTR variant +2 more)
Cardiac arrhythmia
GLikely benign
RANGRF, SLC25A35
Single nucleotide variant
(3 prime UTR variant +2 more)
Cardiac arrhythmia
GLikely benign
RANGRF, SLC25A35
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
+2 more
GBenign
LOC130060241, RANGRF
+1 more
Single nucleotide variant
(3 prime UTR variant +2 more)
Cardiac arrhythmia
+1 more
GLikely benign
LOC130060241, RANGRF
+1 more
Single nucleotide variant
(3 prime UTR variant +2 more)
Cardiac arrhythmia
GLikely benign
LOC130060241, RANGRF
+1 more
Single nucleotide variant
(synonymous variant +3 more)
not specified
+2 more
GBenign
LOC130060241, RANGRF
+1 more
Single nucleotide variant
(synonymous variant +3 more)
Cardiac arrhythmia
GLikely benign
LOC130060241, RANGRF
+1 more
(V31G)
Single nucleotide variant
(missense variant +3 more)
Cardiac arrhythmia
GUncertain significance
LOC130060241, RANGRF
+1 more
(P32L)
Single nucleotide variant
(missense variant +3 more)
Cardiac arrhythmia
GUncertain significance
LOC130060241, RANGRF
+1 more
(D33Y)
Single nucleotide variant
(missense variant +3 more)
Cardiac arrhythmia
GUncertain significance
LOC130060241, RANGRF
+1 more
(V37I)
Single nucleotide variant
(missense variant +3 more)
Cardiac arrhythmia
GUncertain significance
LOC130060241, RANGRF
+1 more
Single nucleotide variant
(synonymous variant +3 more)
Cardiac arrhythmia
GLikely benign
SLC25A35, LOC130060241
+1 more
(V42L)
Single nucleotide variant
(missense variant +3 more)
Cardiac arrhythmia
GLikely benign
LOC130060241, RANGRF
+1 more
(T43M)
Single nucleotide variant
(missense variant +3 more)
Cardiac arrhythmia
GUncertain significance
LOC130060241, RANGRF
+1 more
Single nucleotide variant
(synonymous variant +3 more)
Cardiac arrhythmia
GLikely benign
RANGRF, SLC25A35
+1 more
(D44E)
Single nucleotide variant
(missense variant +3 more)
Cardiac arrhythmia
+1 more
GUncertain significance
LOC130060241, RANGRF
+1 more
(Q45R)
Single nucleotide variant
(missense variant +3 more)
not specified
+1 more
GUncertain significance
RANGRF, SLC25A35
+1 more
Deletion
(nonsense +3 more)
Cardiac arrhythmia
GUncertain significance
SLC25A35, LOC130060241
+1 more
(I48T)
Single nucleotide variant
(missense variant +3 more)
Cardiac arrhythmia
GUncertain significance
RANGRF, SLC25A35
+1 more
(E50K)
Single nucleotide variant
(missense variant +3 more)
Cardiac arrhythmia
GUncertain significance
LOC130060241, RANGRF
+1 more
(L52P)
Single nucleotide variant
(missense variant +3 more)
Cardiac arrhythmia
GUncertain significance
LOC130060241, RANGRF
+1 more
(E53L)
Indel
(missense variant +3 more)
Cardiac arrhythmia
GUncertain significance
LOC130060241, RANGRF
+1 more
Single nucleotide variant
(synonymous variant +3 more)
Cardiac arrhythmia
GLikely benign
RANGRF, SLC25A35
+1 more
(Q55*)
Indel
(nonsense +3 more)
Cardiac arrhythmia
GUncertain significance
LOC130060241, RANGRF
+1 more
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
RANGRF, SLC25A35
(A56D)
Single nucleotide variant
(missense variant +3 more)
Cardiac arrhythmia
GUncertain significance
SLC25A35, RANGRF
(A56V)
Single nucleotide variant
(missense variant +3 more)
not specified
+1 more
GUncertain significance
SLC25A35, RANGRF
Single nucleotide variant
(synonymous variant +3 more)
Cardiac arrhythmia
GLikely benign
RANGRF, SLC25A35
(V58I)
Single nucleotide variant
(missense variant +3 more)
not provided
+2 more
GConflicting classifications of pathogenicity
RANGRF, SLC25A35
(V58E)
Single nucleotide variant
(missense variant +3 more)
Cardiac arrhythmia
GUncertain significance
RANGRF, SLC25A35
(R59L)
Single nucleotide variant
(missense variant +3 more)
Cardiac arrhythmia
GUncertain significance
RANGRF, SLC25A35
(R59P)
Single nucleotide variant
(missense variant +3 more)
Cardiac arrhythmia
GUncertain significance
RANGRF, SLC25A35
Single nucleotide variant
(synonymous variant +3 more)
Cardiac arrhythmia
GLikely benign
RANGRF, SLC25A35
(G60D)
Single nucleotide variant
(missense variant +3 more)
Cardiac arrhythmia
GUncertain significance
SLC25A35, RANGRF
(E61*)
Single nucleotide variant
(nonsense +3 more)
not provided
+2 more
GBenign/Likely benign
RANGRF, SLC25A35
(A62G)
Single nucleotide variant
(missense variant +3 more)
Cardiac arrhythmia
GUncertain significance
RANGRF, SLC25A35
Single nucleotide variant
(synonymous variant +3 more)
Cardiac arrhythmia
GLikely benign
RANGRF, SLC25A35
Single nucleotide variant
(synonymous variant +3 more)
Cardiac arrhythmia
GLikely benign
RANGRF, SLC25A35
(A64T)
Single nucleotide variant
(missense variant +3 more)
Cardiac arrhythmia
GUncertain significance
RANGRF, SLC25A35
(R65L)
Single nucleotide variant
(missense variant +3 more)
Cardiac arrhythmia
GUncertain significance
RANGRF, SLC25A35
Single nucleotide variant
(3 prime UTR variant +2 more)
Cardiac arrhythmia
GUncertain significance
SLC25A35, RANGRF
Single nucleotide variant
(3 prime UTR variant +2 more)
Cardiac arrhythmia
GLikely benign
RANGRF, SLC25A35
Single nucleotide variant
(3 prime UTR variant +2 more)
Cardiac arrhythmia
GLikely benign
RANGRF, SLC25A35
Single nucleotide variant
(3 prime UTR variant +2 more)
Cardiac arrhythmia
GLikely benign
RANGRF, SLC25A35
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
+1 more
GLikely benign
RANGRF, SLC25A35
Single nucleotide variant
(3 prime UTR variant +2 more)
Cardiac arrhythmia
GLikely benign
RANGRF, SLC25A35
Single nucleotide variant
(3 prime UTR variant +2 more)
Cardiac arrhythmia
GLikely benign
RANGRF, SLC25A35
Single nucleotide variant
(3 prime UTR variant +2 more)
Cardiac arrhythmia
GLikely benign
RANGRF, SLC25A35
Single nucleotide variant
(3 prime UTR variant +2 more)
Cardiac arrhythmia
GLikely benign
RANGRF, SLC25A35
Single nucleotide variant
(3 prime UTR variant +2 more)
Cardiac arrhythmia
GLikely benign
RANGRF, SLC25A35
(F68I)
Single nucleotide variant
(missense variant +3 more)
Cardiac arrhythmia
GUncertain significance
RANGRF, SLC25A35
Single nucleotide variant
(synonymous variant +3 more)
Cardiac arrhythmia
GLikely benign
RANGRF, SLC25A35
Single nucleotide variant
(synonymous variant +3 more)
Cardiac arrhythmia
GLikely benign
RANGRF, SLC25A35
(V80I)
Single nucleotide variant
(missense variant +3 more)
Cardiac arrhythmia
GUncertain significance
RANGRF, SLC25A35
(H81R)
Single nucleotide variant
(missense variant +3 more)
not specified
+1 more
GUncertain significance
RANGRF, SLC25A35
(E83K)
Single nucleotide variant
(missense variant +3 more)
Cardiac arrhythmia
GUncertain significance
RANGRF, SLC25A35
(E83D)
Single nucleotide variant
(missense variant +3 more)
not provided
+1 more
GUncertain significance
SLC25A35, RANGRF
(S84A)
Single nucleotide variant
(missense variant +3 more)
Cardiac arrhythmia
+1 more
GUncertain significance
RANGRF, SLC25A35
(Q86*)
Single nucleotide variant
(nonsense +3 more)
Cardiac arrhythmia
GUncertain significance
RANGRF, SLC25A35
+1 more
Single nucleotide variant
(synonymous variant +3 more)
Cardiac arrhythmia
+1 more
GBenign
LOC130060243, RANGRF
+1 more
Single nucleotide variant
(synonymous variant +3 more)
Cardiac arrhythmia
GLikely benign
LOC130060243, RANGRF
+1 more
(R98H)
Single nucleotide variant
(missense variant +3 more)
not specified
+1 more
GUncertain significance
LOC130060243, RANGRF
+1 more
(E101K)
Single nucleotide variant
(missense variant +3 more)
Cardiac arrhythmia
GUncertain significance
LOC130060243, RANGRF
+1 more
Single nucleotide variant
(synonymous variant +3 more)
Cardiac arrhythmia
GLikely benign
LOC130060243, RANGRF
+1 more
Single nucleotide variant
(synonymous variant +3 more)
not provided
+1 more
GLikely benign
RANGRF, SLC25A35
Deletion
(nonsense +4 more)
Cardiac arrhythmia
GUncertain significance
SLC25A35, RANGRF
Single nucleotide variant
(synonymous variant +3 more)
Cardiac arrhythmia
GUncertain significance
RANGRF, SLC25A35
(A120T)
Single nucleotide variant
(missense variant +3 more)
Cardiac arrhythmia
GLikely benign
RANGRF, SLC25A35
(A119E +1 more)
Single nucleotide variant
(missense variant +3 more)
Cardiac arrhythmia
GUncertain significance
RANGRF, SLC25A35
(K120* +1 more)
Single nucleotide variant
(nonsense +4 more)
Cardiac arrhythmia
GUncertain significance
RANGRF, SLC25A35
(V122M +1 more)
Single nucleotide variant
(missense variant +3 more)
Cardiac arrhythmia
+1 more
GUncertain significance
RANGRF, SLC25A35
(L124del +1 more)
Deletion
(inframe_deletion +3 more)
Cardiac arrhythmia
GUncertain significance
RANGRF, SLC25A35
(E159K)
Single nucleotide variant
(synonymous variant +4 more)
Cardiac arrhythmia
GLikely benign
RANGRF, SLC25A35
(R130K)
Single nucleotide variant
(missense variant +4 more)
Cardiac arrhythmia
GUncertain significance
RANGRF, SLC25A35
(A160T)
Single nucleotide variant
(synonymous variant +4 more)
Cardiac arrhythmia
GLikely benign
SLC25A35, RANGRF
(P162S)
Single nucleotide variant
(synonymous variant +4 more)
Cardiac arrhythmia
GLikely benign
RANGRF, SLC25A35
(Q133R)
Single nucleotide variant
(missense variant +4 more)
Cardiac arrhythmia
GUncertain significance
RANGRF, SLC25A35
(P164S)
Single nucleotide variant
(synonymous variant +4 more)
not provided
GLikely benign
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