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Items: 1 to 100 of 328

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC125048431, LOC125048432
+3280 more
Copy number gain
See cases
GPathogenic
FSCB, FUT8
+3275 more
Copy number gain
See cases
GPathogenic
ABCD4, ACYP1
+1421 more
Copy number gain
See cases
GPathogenic
ADCK1, ADSS1
+1202 more
Copy number gain
See cases
GPathogenic
LOC130056672, LOC130056673
+1071 more
Copy number gain
See cases
GPathogenic
ADSS1, AHNAK2
+880 more
Copy number gain
See cases
GPathogenic
ADSS1, AK7
+662 more
Copy number gain
See cases
GPathogenic
ADSS1, AHNAK2
+754 more
Copy number loss
See cases
GPathogenic
IGHD3-22, IGHD3-3
+670 more
Copy number gain
See cases
GPathogenic
LINC00677, LINC01550
+666 more
Copy number loss
See cases
GPathogenic
LOC130056627, LOC130056628
+653 more
Copy number gain
See cases
GPathogenic
ADSS1, AHNAK2
+631 more
Copy number loss
See cases
GPathogenic
MIR494, MIR495
+530 more
Copy number gain
See cases
GPathogenic
ADSS1, AHNAK2
+582 more
Copy number loss
See cases
GPathogenic
LOC130056617, LOC130056618
+571 more
Copy number loss
See cases
GPathogenic
LOC130056492, LOC130056485
+561 more
Copy number loss
See cases
GPathogenic
ADSS1, AHNAK2
+441 more
Copy number loss
See cases
GPathogenic
LINC00605, LINC00677
+416 more
Copy number loss
See cases
GPathogenic
LOC105378183, LOC112163684
+164 more
Copy number loss
See cases
GPathogenic
BRF1, ADSS1
+397 more
Copy number loss
See cases
GPathogenic
MIR4538, MIR4539
+397 more
Copy number loss
Neurodevelopmental disorder
GPathogenic
ADSS1, AKT1
+177 more
Copy number loss
See cases
GPathogenic
ADSS1, AHNAK2
+367 more
Copy number loss
See cases
GPathogenic
MIR4710, MIR5195
+304 more
Copy number gain
See cases
GPathogenic
ASPG, ATP5MJ
+72 more
Copy number gain
See cases
GUncertain significance
ADSS1, AHNAK2
+256 more
Copy number loss
See cases
GPathogenic
ADSS1, AHNAK2
+256 more
Copy number loss
See cases
GPathogenic
LOC130056667, LOC130056668
+241 more
Copy number loss
See cases
GPathogenic
KIF26A
(C9R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KIF26A
(P32A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(A38V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(G46S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(L105F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(D106N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(R118C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(R118H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(P119S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KIF26A
(R124C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KIF26A
(A129S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(R137Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(S170A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(P179L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(Q183R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(L195P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(R235W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(R235Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(S238T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(P242L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(A254V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(R260Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(C262F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(V265fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
KIF26A
(P264A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(V265M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(G267S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(P268L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(K273E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(R277H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KIF26A
(S300L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(A302S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(A316P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(P326L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KIF26A
(R331H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(V343F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(A359T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
KIF26A
(N365S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(P366T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(L376R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(P398T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(G411R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(P413L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(A416V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(A422P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(S456L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(A461fs)
Deletion
(frameshift variant)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
KIF26A
(M471V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(R506H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(R513C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KIF26A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KIF26A
(V516I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(C524W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(R526C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(R526H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(R531Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(S541N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(A560V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(E567K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(R569W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KIF26A
(D597V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(S601G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(S602A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(V610I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KIF26A
(R614G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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