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Links from Gene

Items: 64

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HRC
(R183Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRC
(H158Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRC
(Y99H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRC
(G607S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRC
(E523K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRC
(R514G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRC
(H336Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACP4, ADM5
+118 more
Copy number gain
not specified
GLikely pathogenic
ACP4, ADM5
+261 more
Copy number gain
not provided
GLikely pathogenic
HRC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HRC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HRC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HRC
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HRC
(H389Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRC
(D189N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRC
(R361H)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
HRC, LOC130064904
+2 more
Deletion
PPFIA3-related disorder
GLikely pathogenic
HRC
(A125V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRC
(H148Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRC
(E163K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRC
(T384I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRC
(P236S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRC
(E433V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRC
(G650R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRC
(D186H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C19orf73, CGB1
+15 more
Deletion
Progressive familial heart block type IB
GUncertain significance
HRC
(C662W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRC
(H290R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRC
(S563N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRC
(R239S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRC
(E51K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRC
(G493S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
HRC
(R474G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRC
(D66N)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
HRC
(R298Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
HRC
(E404K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRC
(G315R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRC
(Q616R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRC
(S494Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRC
(H511R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRC
(R320K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRC
(S625C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRC
(D257G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRC
(A55E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRC, LOC130064904
+2 more
Duplication
not provided
GUncertain significance
PTOV1-AS2, SLC17A7
+45 more
Duplication
Developmental and epileptic encephalopathy, 12
GUncertain significance
HRC
(S96A)
Single nucleotide variant
(missense variant)
not provided
GBenign
FLT3LG, FPR1
+308 more
Copy number gain
not provided
GPathogenic
FUZ, GARIN5A
+228 more
Copy number gain
not provided
Gnot provided
HRC, PPFIA3
+1 more
Copy number gain
not provided
Gnot provided
CLDND2, IGSF23
+293 more
Copy number gain
not provided
GPathogenic
HRC
(E603K)
Single nucleotide variant
(missense variant)
not provided
GBenign
HRC
(R217Q)
Single nucleotide variant
(missense variant)
not specified
+1 more
GLikely benign
HRC
(E698Q)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
C19orf81, CD37
+66 more
Copy number gain
not provided
GUncertain significance
TRPM4, CD37
+5 more
Copy number gain
not provided
GUncertain significance
BICRA, BLOC1S3
+1364 more
Copy number gain
See cases
GPathogenic
A1BG, ABCA7
+1364 more
Copy number gain
See cases
GPathogenic
HRC, PPFIA3
+1 more
Copy number gain
See cases
GLikely benign
HRC, TRPM4
(D261del)
Microsatellite
(inframe_deletion)
Progressive familial heart block
GLikely benign
LOC130064933, LOC130064934
+1093 more
Copy number gain
See cases
GPathogenic
ZBTB45, ZFP28
+1081 more
Copy number gain
See cases
GPathogenic
HRC, TRPM4
(A432T +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
HRC, TRPM4
(G582S +4 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
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