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Items: 30

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AMMECR1L, BIN1
+254 more
Copy number loss
See cases
GPathogenic
ACMSD, AMER3
+391 more
Copy number loss
See cases
GPathogenic
C1QL2, C2orf76
+92 more
Copy number loss
See cases
GPathogenic
DBI
(E25Q +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DBI
(A52V +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DBI
(R105W +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DBI
(T51M +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DBI
(G103R +6 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
ACOXL, ACTR3
+121 more
Copy number loss
not specified
GPathogenic
C1QL2, C2orf76
+22 more
Copy number loss
not specified
GLikely pathogenic
C1QL2, C2orf76
+21 more
Copy number loss
not provided
GPathogenic
C2orf76, DBI
+4 more
Copy number gain
not provided
GUncertain significance
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
EPB41L5, ERCC3
+120 more
Copy number gain
2q13q22.3 microduplication syndrome
GPathogenic
ACTR3, BIN1
+51 more
Copy number loss
not specified
GPathogenic
C2orf76, DBI
+10 more
Copy number gain
not provided
GUncertain significance
GPR39, IL1F10
+122 more
Copy number gain
not provided
GPathogenic
DBI, C2orf76
+2 more
Copy number gain
not provided
GLikely benign
TMEM177, TFCP2L1
+18 more
Copy number loss
not provided
GPathogenic
BIN1, PTPN4
+24 more
Copy number loss
not provided
GPathogenic
TMEM177, C2orf76
+20 more
Copy number loss
not provided
GPathogenic
STEAP3, PTPN4
+23 more
Copy number loss
not provided
GPathogenic
DBI, TMEM37
+3 more
Copy number gain
not provided
GLikely benign
ACMSD, C2orf27A
+486 more
Deletion
not provided
GLikely pathogenic
CCDC74B, CCDC93
+218 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
C1QL2, C2orf76
+21 more
Copy number loss
See cases
GPathogenic
FOXD4L1, ACTR3
+27 more
Copy number loss
See cases
GPathogenic
RGPD8, ACTR3
+63 more
Copy number loss
See cases
GPathogenic
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