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Items: 38

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130057927, LOC130057928
+1764 more
Copy number gain
See cases
GPathogenic
CSNK1G1
(R420H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CSNK1G1
(E397K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CSNK1G1
(V407A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CSNK1G1
(V370M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CSNK1G1
(R367Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CSNK1G1
(I349V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CSNK1G1
(V329I)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CSNK1G1
(F311L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CSNK1G1
(A256G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CSNK1G1
(R230W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CSNK1G1
(D196G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CSNK1G1
(I185V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CSNK1G1
(R174P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CSNK1G1
(R174*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
CSNK1G1
(I172T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CSNK1G1
(R163L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CSNK1G1
(Q147R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CSNK1G1
(P123R)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
CSNK1G1
(Y105C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CSNK1G1
(Y69C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CSNK1G1
(N67S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CSNK1G1
(L64F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CSNK1G1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CSNK1G1
(R27Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CSNK1G1
(R27G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CSNK1G1
(T15P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APH1B, C2CD4A
+19 more
Deletion
not provided
GPathogenic
CGNL1, MAPDA
+472 more
Duplication
Familial colorectal cancer
+1 more
GUncertain significance
TRIP4, PCLAF
+1 more
Copy number loss
not provided
GUncertain significance
ANKDD1A, APH1B
+40 more
Deletion
Nemaline myopathy 6
GLikely pathogenic
PDIA3, PEAK1
+521 more
Duplication
not provided
GPathogenic
AAGAB, ABHD17C
+559 more
Copy number gain
See cases
GPathogenic
NOX5, NPAP1
+559 more
Copy number gain
See cases
GPathogenic
CHRFAM7A, CHRM5
+566 more
Copy number gain
See cases
GPathogenic
ALDH1A2, ALDH1A3
+444 more
Copy number gain
See cases
GPathogenic
WHAMM, CCNB2
+308 more
Copy number gain
not provided
GLikely pathogenic
AAGAB, ABHD17C
+278 more
Copy number gain
See cases
GPathogenic
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