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Items: 46

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
NIFK, NIFK-AS1
(R288Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIFK, NIFK-AS1
(K257E)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NIFK, NIFK-AS1
(Q248fs)
Microsatellite
(non-coding transcript variant +1 more)
not provided
GLikely benign
NIFK, NIFK-AS1
(R245Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NIFK, NIFK-AS1
(P239L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NIFK, NIFK-AS1
(S218A)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NIFK, NIFK-AS1
(R211L)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NIFK, NIFK-AS1
(R211H)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NIFK, NIFK-AS1
(R211C)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NIFK, NIFK-AS1
(T203M)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
NIFK
(S187F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIFK
(M161L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIFK
(R153Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIFK
(R148Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIFK
(K147N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIFK
(P122S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIFK
(M106T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIFK
(N84S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIFK
(T59S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129934696, NIFK
(E21D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NIFK
(S5F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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
CLASP1, CNTNAP5
+5 more
Copy number loss
not provided
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
EPB41L5, ERCC3
+120 more
Copy number gain
2q13q22.3 microduplication syndrome
GPathogenic
CLASP1, CNTNAP5
+10 more
Copy number gain
not specified
GUncertain significance
ACTR3, BIN1
+51 more
Copy number loss
not specified
GPathogenic
CNTNAP5, EPB41L5
+11 more
Copy number loss
not provided
GPathogenic
GPR39, IL1F10
+122 more
Copy number gain
not provided
GPathogenic
TMEM177, TFCP2L1
+18 more
Copy number loss
not provided
GPathogenic
BIN1, PTPN4
+24 more
Copy number loss
not provided
GPathogenic
CLASP1, NIFK
+2 more
Copy number loss
not provided
GUncertain significance
STEAP3, PTPN4
+23 more
Copy number loss
not provided
GPathogenic
CLASP1, RNU4ATAC
+1 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
ACMSD, AMER3
+74 more
Copy number loss
See cases
GPathogenic
RGPD8, ACTR3
+63 more
Copy number loss
See cases
GPathogenic
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