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Items: 69

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MIR138-2, MIR140
+1738 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+939 more
Copy number gain
See cases
GPathogenic
LOC130059829, LOC130059830
+1429 more
Copy number gain
See cases
GPathogenic
LOC108281164, LOC109029536
+1426 more
Copy number gain
See cases
GPathogenic
LOC130059834, LOC130059835
+1424 more
Copy number gain
See cases
GPathogenic
LOC130059420, LOC130059421
+869 more
Copy number gain
See cases
GPathogenic
LOC132090408, LOC132090409
+572 more
Copy number gain
See cases
GPathogenic
AARS1, ADAT1
+295 more
Copy number loss
See cases
GPathogenic
ADAD2, ADAMTS18
+591 more
Copy number loss
See cases
GPathogenic
LOC130059850, LOC130059851
+1041 more
Copy number gain
See cases
GPathogenic
PKD1L2, PKD1L3
+1031 more
Copy number gain
See cases
GPathogenic
LOC112486211, LOC112486212
+360 more
Copy number loss
See cases
GPathogenic
BCAR1, CFDP1
+75 more
Copy number gain
See cases
GUncertain significance
BCAR1, CFDP1
+60 more
Copy number gain
See cases
GUncertain significance
BCAR1, CFDP1
+58 more
Copy number gain
See cases
GUncertain significance
ADAT1, BCAR1
+83 more
Copy number gain
See cases
GUncertain significance
BCAR1, CFDP1
+42 more
Copy number loss
See cases
GUncertain significance
LOC130059400, ZNRF1
Single nucleotide variant
not provided
GBenign
ZNRF1
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
LOC130059401, ZNRF1
(P28L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130059401, ZNRF1
(T39A)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
LOC130059401, ZNRF1
(G41S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130059401, ZNRF1
(M44V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130059401, ZNRF1
(S50W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130059401, ZNRF1
(V54M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130059401, ZNRF1
(D60E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130059401, ZNRF1
(G88R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130059401, ZNRF1
(Y97C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130059401, ZNRF1
(N101S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130059401, ZNRF1
(G108A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNRF1
(A127P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNRF1
(S138T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNRF1
Single nucleotide variant
(intron variant)
not provided
GBenign
ZNRF1
Single nucleotide variant
(intron variant)
not provided
GBenign
ZNRF1
Single nucleotide variant
(intron variant)
not provided
GBenign
ZNRF1
(F143L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNRF1
(K144T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNRF1
(A181V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZNRF1
Single nucleotide variant
(intron variant)
not provided
GBenign
BCAR1, CFDP1
+13 more
Copy number loss
not specified
GPathogenic
FA2H, WDR59
+1 more
Copy number gain
not provided
GUncertain significance
ADAMTS18, ADAT1
+67 more
Copy number gain
not provided
GPathogenic
BCAR1, CFDP1
+10 more
Duplication
Spastic paraplegia
GUncertain significance
ADAT1, BCAR1
+21 more
Copy number loss
not provided
GUncertain significance
ADAMTS18, ADAT1
+29 more
Copy number loss
not provided
GUncertain significance
ADAT1, BCAR1
+21 more
Copy number gain
not provided
GUncertain significance
ACSF3, ADAD2
+150 more
Copy number gain
Syndromic anorectal malformation
GLikely pathogenic
AARS1, ABCC11
+368 more
Copy number gain
not provided
GPathogenic
BCAR1, CFDP1
+9 more
Deletion
Macular corneal dystrophy
GPathogenic
ZFP1, BCAR1
+7 more
Copy number loss
not provided
GUncertain significance
AARS1, ACD
+268 more
Copy number gain
not provided
Gnot provided
ZFP1, CTRB2
+3 more
Copy number gain
not provided
GUncertain significance
WDR59, NPIPB15
+12 more
Copy number loss
not provided
GUncertain significance
ADAMTS18, ADAT1
+27 more
Copy number loss
not provided
GUncertain significance
FA2H, GLG1
+4 more
Deletion
Neurodevelopmental disorder
GUncertain significance
ZNRF1, LDHD
+1 more
Copy number loss
not provided
GUncertain significance
ACSF3, ADAD2
+136 more
Copy number gain
not provided
GPathogenic
CA7, COG8
+368 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
KCTD19, KIAA0513
+368 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
CBLN1, CCDC102A
+591 more
Copy number gain
See cases
GUncertain significance
AARS1, ABAT
+811 more
Copy number gain
See cases
GPathogenic
CCL22, CCNF
+811 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+292 more
Copy number gain
See cases
GPathogenic
ADAT1, BCAR1
+22 more
Copy number loss
See cases
GUncertain significance
ABCC6, BCL7C
+811 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+127 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+140 more
Copy number loss
Breast ductal adenocarcinoma
GUncertain significance
ATXN1L, B3GNT9
+368 more
Copy number loss
Breast ductal adenocarcinoma
GUncertain significance
ADGRG5, CFAP263
+324 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
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