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Items: 74

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862060, LOC126862061
+3282 more
Copy number gain
See cases
GPathogenic
LOC125048449, LOC125048450
+3277 more
Copy number gain
See cases
GPathogenic
LOC130056651, LOC130056652
+1423 more
Copy number gain
See cases
GPathogenic
ADCK1, ADSS1
+1204 more
Copy number gain
See cases
GPathogenic
LOC130056392, LOC130056393
+1073 more
Copy number gain
See cases
GPathogenic
IGHD5-18, IGHD5-24
+881 more
Copy number gain
See cases
GPathogenic
LOC130056359, LOC130056360
+663 more
Copy number gain
See cases
GPathogenic
LOC130056380, LOC130056381
+755 more
Copy number loss
See cases
GPathogenic
LOC130056535, LOC130056536
+671 more
Copy number gain
See cases
GPathogenic
LOC130056672, LOC130056673
+667 more
Copy number loss
See cases
GPathogenic
LOC130056604, LOC130056605
+654 more
Copy number gain
See cases
GPathogenic
ADSS1, AHNAK2
+632 more
Copy number loss
See cases
GPathogenic
MIR493, MIR494
+530 more
Copy number gain
See cases
GPathogenic
ADSS1, AHNAK2
+582 more
Copy number loss
See cases
GPathogenic
LOC130056480, LOC130056481
+571 more
Copy number loss
See cases
GPathogenic
IGHV1-46, IGHV1-58
+561 more
Copy number loss
See cases
GPathogenic
MIR6765, MIR8071-1
+441 more
Copy number loss
See cases
GPathogenic
ADSS1, AHNAK2
+416 more
Copy number loss
See cases
GPathogenic
LOC105378183, LOC112163684
+164 more
Copy number loss
See cases
GPathogenic
ADSS1, AHNAK2
+397 more
Copy number loss
See cases
GPathogenic
LOC130056644, LOC130056645
+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
ADSS1, AHNAK2
+304 more
Copy number gain
See cases
GPathogenic
ASPG, ATP5MJ
+72 more
Copy number gain
See cases
GUncertain significance
LOC130056601, ZFYVE21
(P18T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130056601, ZFYVE21
(H27Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130056601, ZFYVE21
(A29V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZFYVE21
(S79N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZFYVE21
(P83L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZFYVE21
(L104F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZFYVE21
(D111N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZFYVE21
(L140F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZFYVE21
(S153N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZFYVE21
(E158K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZFYVE21
(A181T)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ZFYVE21
(R198W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZFYVE21
(T189K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZFYVE21
(T193M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZFYVE21
(V196M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZFYVE21
(V203fs +1 more)
Duplication
(frameshift variant)
Premature coronary artery atherosclerosis
GUncertain significance
ADSS1, AHNAK2
+40 more
Deletion
Herpes simplex encephalitis, susceptibility to, 3
GUncertain significance
ADSS1, AHNAK2
+70 more
Copy number loss
not provided
GPathogenic
CLBA1, COA8
+65 more
Copy number loss
not specified
GPathogenic
IGHV3-23, INF2
+91 more
Copy number loss
not provided
GPathogenic
IFI27L1, IGHA2
+182 more
Copy number gain
not provided
GPathogenic
CCNK, MIR376A1
+353 more
Copy number gain
not provided
GPathogenic
ADSS1, AHNAK2
+50 more
Copy number loss
not provided
GPathogenic
ADSS1, AHNAK2
+47 more
Duplication
Charcot-Marie-Tooth disease axonal type 2O
+1 more
GUncertain significance
ADSS1, AHNAK2
+46 more
Deletion
Charcot-Marie-Tooth disease axonal type 2O
GUncertain significance
ADSS1, AHNAK2
+185 more
Copy number gain
not provided
GPathogenic
AREL1, ARF6
+447 more
Copy number gain
See cases
GPathogenic
ADSS1, AHNAK2
+37 more
Duplication
not provided
GUncertain significance
PACS2, PLD4
+67 more
Copy number loss
not specified
GPathogenic
ZFYVE21, ZNF839
+47 more
Duplication
not provided
GUncertain significance
ADSS1, AHNAK2
+60 more
Copy number loss
not provided
GPathogenic
BRF1, AHNAK2
+62 more
Copy number loss
not provided
GPathogenic
KIF26A, KLC1
+112 more
Copy number loss
See cases
GPathogenic
RCOR1, TNFAIP2
+56 more
Copy number loss
not provided
GPathogenic
ADSS1, AHNAK2
+104 more
Copy number gain
not provided
GPathogenic
ATXN3, BAG5
+164 more
Copy number gain
not provided
GPathogenic
INF2, JAG2
+67 more
Copy number loss
not provided
GPathogenic
ADSS1, AHNAK2
+58 more
Copy number loss
not provided
GPathogenic
BAG5, MIR380
+98 more
Copy number gain
not provided
GPathogenic
KLC1, MARK3
+30 more
Copy number loss
not provided
GLikely pathogenic
ADSS1, AHNAK2
+53 more
Copy number gain
not provided
GPathogenic
GTF2A1, GZMB
+624 more
Copy number gain
See cases
GPathogenic
ADSS1, AHNAK2
+96 more
Copy number loss
See cases
GPathogenic
ADSS1, AHNAK2
+49 more
Copy number loss
See cases
GPathogenic
ABCD4, ACOT1
+261 more
Copy number gain
See cases
GPathogenic
ADSS1, AHNAK2
+56 more
Copy number loss
See cases
GPathogenic
ADSS1, AHNAK2
+62 more
Copy number loss
See cases
GPathogenic
ABCD4, ABHD12B
+635 more
Copy number gain
See cases
GPathogenic
AMN, ATP5MJ
+15 more
Copy number loss
See cases
GPathogenic
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