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Items: 64

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130065401, LOC130065402
+348 more
Copy number gain
See cases
GPathogenic
LOC130065344, LOC130065345
+455 more
Copy number gain
See cases
GPathogenic
LOC129456123, LOC130065248
+833 more
Copy number gain
See cases
GPathogenic
ANGPT4, C20orf202
+103 more
Copy number loss
See cases
GLikely pathogenic
LOC112694699, LOC112694712
+306 more
Copy number gain
See cases
GUncertain significance
ABHD12, ACSS1
+828 more
Copy number gain
See cases
GPathogenic
ADAM33, ADISSP
+571 more
Copy number gain
See cases
GPathogenic
LOC114004355, LOC116286198
+347 more
Copy number gain
See cases
GPathogenic
ADAM33, ADISSP
+731 more
Copy number gain
Renal agenesis
GPathogenic
ANGPT4, C20orf202
+104 more
Copy number loss
See cases
GPathogenic
DEFB129, DEFB132
+96 more
Copy number loss
See cases
GPathogenic
ADAM33, ADISSP
+579 more
Copy number gain
See cases
GPathogenic
ANGPT4, C20orf202
+102 more
Copy number loss
See cases
GPathogenic
LOC129391148, LOC129391149
+110 more
Copy number loss
See cases
GPathogenic
FASTKD5, FERMT1
+814 more
Copy number gain
See cases
GPathogenic
LOC130065324, LOC130065325
+581 more
Copy number gain
See cases
GPathogenic
ANGPT4, C20orf202
+104 more
Copy number loss
See cases
GPathogenic
JPH2, KAT14
+2522 more
Copy number gain
See cases
GPathogenic
ANGPT4, C20orf202
+120 more
Copy number loss
See cases
GPathogenic
ANGPT4, C20orf202
+100 more
Copy number gain
See cases
GUncertain significance
LOC130065322, LOC130065323
+300 more
Copy number gain
See cases
GPathogenic
NSFL1C
(N331S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NSFL1C
(L325H +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NSFL1C
(R307K +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NSFL1C
(G197S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NSFL1C
(H196D +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NSFL1C
(L191F +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
NSFL1C
(R183H +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NSFL1C
(N175D +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NSFL1C
(P149Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NSFL1C
(P147T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NSFL1C
(S147R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NSFL1C
(P141T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NSFL1C
(R136Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NSFL1C
(E117K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NSFL1C
(N116K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NSFL1C
(G64D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NSFL1C
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NSFL1C
(V51L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NSFL1C
(S29P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NSFL1C
(R24C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NSFL1C
(V13L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
THBD, TMC2
+164 more
Copy number gain
not provided
GPathogenic
TMEM74B, TMX4
+114 more
Copy number gain
not provided
GPathogenic
ADAM33, ADISSP
+100 more
Copy number gain
not provided
GPathogenic
ANGPT4, C20orf202
+31 more
Copy number gain
not provided
GUncertain significance
C20orf202, ZCCHC3
+35 more
Deletion
not provided
GPathogenic
C20orf202, FKBP1A
+7 more
Copy number gain
not provided
GUncertain significance
ANGPT4, C20orf202
+31 more
Copy number loss
not specified
GPathogenic
ABHD12, ACSS1
+177 more
Copy number gain
not provided
GPathogenic
DEFB132, FAM110A
+34 more
Copy number loss
not provided
GPathogenic
ANGPT4, C20orf202
+33 more
Copy number loss
not provided
GLikely pathogenic
ADAM33, ADISSP
+104 more
Copy number gain
See cases
GLikely pathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
ADAM33, ADISSP
+80 more
Copy number gain
See cases
GUncertain significance
NSFL1C, PCED1A
+48 more
Copy number gain
See cases
GUncertain significance
ANGPT4, C20orf202
+31 more
Copy number loss
See cases
GLikely pathogenic
ESF1, FAM110A
+178 more
Copy number gain
not provided
GPathogenic
NSFL1C, SIRPB1
+3 more
Copy number gain
See cases
GLikely benign
ANGPT4, C20orf202
+32 more
Copy number loss
See cases
GPathogenic
ABHD12, ACSS1
+176 more
Copy number gain
See cases
GPathogenic
ADAM33, ADISSP
+85 more
Copy number gain
See cases
GPathogenic
NRSN2, SIRPD
+34 more
Copy number loss
See cases
GPathogenic
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