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Items: 44

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PROSER2-AS1, PRPF18
+680 more
Copy number loss
See cases
GPathogenic
MIR5699, MIR6072
+496 more
Copy number gain
See cases
GPathogenic
ADARB2, ADARB2-AS1
+276 more
Copy number loss
See cases
GPathogenic
LOC126860819, LOC126860820
+680 more
Copy number gain
See cases
GPathogenic
LOC130003277, LOC130003278
+520 more
Copy number loss
See cases
GPathogenic
LOC132090805, MANCR
+482 more
Copy number gain
See cases
GPathogenic
ACBD7, ACBD7-DCLRE1CP1
+837 more
Copy number gain
See cases
GPathogenic
LOC130003153, LOC130003154
+421 more
Copy number gain
See cases
GPathogenic
ADARB2, ADARB2-AS1
+298 more
Copy number gain
See cases
GPathogenic
ADARB2, ADARB2-AS1
+352 more
Copy number gain
See cases
GPathogenic
ADARB2, AKR1C1
+304 more
Copy number gain
See cases
GLikely pathogenic
LOC130003188, LOC130003189
+195 more
Duplication
Schizophrenia
GLikely pathogenic
ABI1, ACBD5
+1221 more
Copy number gain
See cases
GBenign
AKR1C1, AKR1C2
+175 more
Copy number loss
See cases
GUncertain significance
LOC130003217, LOC130003218
+482 more
Copy number loss
See cases
GPathogenic
ATP5F1C, LINC00706
+104 more
Duplication
not provided
GUncertain significance
RBM17
(S63L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBM17
(L79R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBM17
(M103V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBM17
(D107E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBM17
(E109K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBM17
(M170V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBM17
(K186R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RBM17
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RBM17
(E325*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
RBM17
(K335R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADARB2, AKR1C1
+35 more
Copy number gain
See cases
GUncertain significance
FBH1, IL15RA
+3 more
Copy number gain
not specified
GUncertain significance
CDC123, CELF2
+47 more
Copy number gain
not provided
GUncertain significance
FBH1, IL15RA
+4 more
Copy number gain
not specified
GUncertain significance
AKR1C1, AKR1C2
+29 more
Copy number gain
not specified
GUncertain significance
AKR1C1, AKR1C2
+18 more
Copy number gain
not provided
GUncertain significance
ARL5B, LARP4B
+180 more
Copy number gain
Mosaic supernumerary isodicentric chromosome 10
Gnot provided
AKR1C1, AKR1C2
+30 more
Deletion
not provided
GPathogenic
ACBD7, ADARB2
+68 more
Copy number gain
not provided
GPathogenic
WDR37, ZMYND11
+68 more
Copy number gain
not provided
GPathogenic
ITIH2, ITIH5
+72 more
Deletion
Hypoparathyroidism, deafness, renal disease syndrome
GPathogenic
ABI1, ACBD5
+205 more
Copy number gain
See cases
GPathogenic
ADARB2, AKR1C1
+47 more
Copy number loss
See cases
GPathogenic
INA, INPP5A
+721 more
Copy number gain
See cases
GPathogenic
A1CF, ABCC2
+721 more
Copy number gain
See cases
GPathogenic
ADARB2, AKR1C1
+37 more
Copy number loss
See cases
GPathogenic
A1CF, ABCC2
+722 more
Copy number gain
See cases
GPathogenic
AKR1E2, GATA3
+29 more
Copy number loss
See cases
GPathogenic
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