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Items: 1 to 100 of 102

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC115995524, LOC115995525
+2647 more
Copy number gain
See cases
GPathogenic
LOC123453201, LOC123453202
+1450 more
Copy number gain
See cases
GPathogenic
LOC129938169, LOC129938170
+1318 more
Copy number gain
See cases
GPathogenic
LOC108281160, LOC108281177
+1247 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+1245 more
Copy number gain
See cases
GPathogenic
LOC132088897, LOC132088898
+1201 more
Copy number gain
See cases
GPathogenic
LOC129938260, LOC129938261
+1064 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+627 more
Copy number gain
See cases
GLikely pathogenic
LOC129938077, LOC129938078
+1041 more
Copy number gain
See cases
GPathogenic
ZMAT3, ZNF639
+867 more
Copy number gain
See cases
GPathogenic
LOC129938282, LOC129938283
+866 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+399 more
Copy number loss
See cases
GPathogenic
ABCC5, ABCC5-AS1
+205 more
Copy number loss
See cases
GLikely pathogenic
ABCC5, ABCC5-AS1
+126 more
Copy number loss
See cases
GLikely pathogenic
ADIPOQ, ADIPOQ-AS1
+131 more
Copy number gain
See cases
GPathogenic
MIR944, MUC20
+557 more
Copy number loss
See cases
GPathogenic
CRYGS, DGKG
+24 more
Copy number loss
See cases
GUncertain significance
DGKG
(R749H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(S739T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(A729V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(V669M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(V658I +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
DGKG
(A631S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DGKG
(I597V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(T628N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(E575Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(A550T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(P512R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(P551S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(G537A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(R530C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DGKG
(I478V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(C463Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(R461G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(R455C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(L458M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DGKG
(P391S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(D365A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(P356S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(R336H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(R336C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(H335P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(C369W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DGKG
(V367M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DGKG
(Q359H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DGKG
(D349N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DGKG
(V346F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DGKG
(N317T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(R296C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(R271W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(D262N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(T251A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(G238S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(M232T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(G231R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(S169Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(S156P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(R150W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(A141V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DGKG
(P134S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(E118K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(T114S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(S102N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(N97K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(G94E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(L71P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(V65G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(A61V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(L57P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(G38V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(A31D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(K29E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(I28T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGKG
(R5Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCC5, ABCF3
+136 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCF3
+145 more
Duplication
not provided
GPathogenic
MUC20, MUC4
+286 more
Duplication
not provided
GPathogenic
ADIPOQ, AHSG
+32 more
Copy number loss
not provided
GLikely pathogenic
CCDC50, MELTF
+155 more
Copy number gain
Isolated anorectal malformation
GLikely pathogenic
ABCC5, ABCF3
+118 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCF3
+53 more
Copy number loss
Short stature
GPathogenic
ABCC5, ABCF3
+49 more
Copy number loss
not specified
GPathogenic
ABCC5, ABCF3
+59 more
Copy number loss
not specified
GPathogenic
CRYGS, DGKG
+2 more
Copy number gain
not provided
GUncertain significance
ABCC5, ABCF3
+82 more
Copy number gain
not provided
GPathogenic
DGKG, CRYGS
+2 more
Copy number gain
not provided
GUncertain significance
CLCN2, YEATS2
+52 more
Copy number loss
not provided
GPathogenic
ST6GAL1, DNAJB11
+19 more
Copy number loss
not provided
GPathogenic
DVL3, ALG3
+28 more
Copy number loss
not provided
GLikely pathogenic
FXR1, HTR3D
+113 more
Copy number gain
not provided
GPathogenic
FYTTD1, FAM43A
+103 more
Copy number gain
not provided
GPathogenic
KNG1, FETUB
+75 more
Copy number loss
not provided
GPathogenic
PPP1R2, TBCCD1
+126 more
Copy number gain
not provided
GPathogenic
FETUB, HRG
+32 more
Copy number loss
Cognitive impairment
+1 more
GPathogenic
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
ADIPOQ, AHSG
+14 more
Copy number loss
See cases
GPathogenic
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