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Items: 90

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GAPDH, GAU1
+477 more
Deletion
Tumoral calcinosis, hyperphosphatemic, familial, 1
Gnot provided
ACRBP, ADIPOR2
+348 more
Copy number gain
See cases
GPathogenic
ADIPOR2, B4GALNT3
+142 more
Copy number loss
See cases
GPathogenic
ADIPOR2, B4GALNT3
+147 more
Copy number loss
See cases
GPathogenic
TAS2R9, TEAD4
+1258 more
Copy number gain
See cases
GPathogenic
ADIPOR2, B4GALNT3
+101 more
Copy number loss
See cases
GPathogenic
CLEC12A, CLEC12A-AS1
+1258 more
Copy number gain
See cases
GPathogenic
LOC126861410, LOC126861411
+1258 more
Copy number gain
See cases
GPathogenic
ADIPOR2, B4GALNT3
+170 more
Copy number loss
See cases
GPathogenic
ADIPOR2, B4GALNT3
+114 more
Copy number loss
See cases
GPathogenic
A2M, A2M-AS1
+1009 more
Copy number gain
See cases
GPathogenic
LOC130007161, LOC130007162
+80 more
Copy number loss
See cases
GPathogenic
ADIPOR2, B4GALNT3
+123 more
Copy number loss
See cases
GPathogenic
LOC130007230, LOC130007231
+1257 more
Copy number gain
See cases
GPathogenic
ADIPOR2, B4GALNT3
+146 more
Copy number loss
See cases
GPathogenic
ACAD10, ACADS
+4836 more
Copy number gain
See cases
GPathogenic
LOC126861494, LOC126861495
+1257 more
Copy number gain
See cases
GPathogenic
ADIPOR2, AKAP3
+218 more
Copy number loss
See cases
GPathogenic
ADIPOR2, B4GALNT3
+126 more
Copy number gain
See cases
GPathogenic
CACNA1C-AS2, CACNA1C-AS4
+1242 more
Copy number gain
See cases
GPathogenic
ADIPOR2, AKAP3
+223 more
Copy number gain
See cases
GPathogenic
ERC1, FBXL14
+30 more
Copy number gain
See cases
GUncertain significance
A2M, A2M-AS1
+853 more
Copy number gain
See cases
GPathogenic
ADIPOR2, CACNA1C
+49 more
Copy number gain
See cases
GUncertain significance
FBXL14
(V385I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXL14
(C382Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBXL14
(V341A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXL14
(R333H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXL14
(A301G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBXL14
(S278G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBXL14
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FBXL14
(T228R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBXL14
(K221N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBXL14
(L202V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXL14
(E149D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXL14, LOC130007165
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
FBXL14, LOC130007165
(N91D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBXL14
(L54V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXL14
(G47E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FBXL14
(R27S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBXL14
(R27C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBXL14
(K25R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FBXL14
(G18R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
A2M, A2ML1
+278 more
Copy number gain
not specified
GPathogenic
ADIPOR2, CACNA2D4
+7 more
Copy number loss
not provided
GLikely pathogenic
ADIPOR2, AKAP3
+40 more
Copy number loss
not provided
GPathogenic
ADIPOR2, B4GALNT3
+16 more
Copy number loss
not provided
GUncertain significance
FGD4, FGF23
+278 more
Duplication
not provided
GPathogenic
DENND5B, DERA
+278 more
Copy number gain
Pallister-Killian syndrome
GPathogenic
ADIPOR2, CACNA1C
+8 more
Duplication
not provided
GUncertain significance
ADIPOR2, CACNA1C
+8 more
Copy number loss
not provided
GPathogenic
ACRBP, ACSM4
+105 more
Copy number gain
not provided
GPathogenic
C3AR1, CACNA1C
+278 more
Copy number gain
not specified
GPathogenic
A2M, A2ML1
+278 more
Copy number gain
not specified
GPathogenic
A2ML1, ABCC9
+235 more
Copy number gain
not specified
GPathogenic
CLEC4A, LRRC23
+106 more
Copy number gain
Single transverse palmar crease
+6 more
GPathogenic
CRACR2A, ERC1
+93 more
Copy number gain
not provided
GPathogenic
ADIPOR2, B4GALNT3
+33 more
Copy number loss
not provided
GPathogenic
WNK1, RAD52
+2 more
Copy number gain
not provided
GLikely benign
ART4, DYRK4
+278 more
Copy number gain
not provided
GPathogenic
ADIPOR2, ERC1
+2 more
Copy number loss
not provided
GUncertain significance
ADIPOR2, CACNA2D4
+5 more
Copy number gain
not provided
GUncertain significance
ADIPOR2, AKAP3
+44 more
Copy number loss
not provided
GPathogenic
CLEC1B, CLEC2A
+278 more
Copy number gain
not provided
GPathogenic
ACRBP, ACSM4
+107 more
Copy number gain
not provided
GPathogenic
ACRBP, ACSM4
+102 more
Copy number gain
not provided
GPathogenic
ACRBP, ACSM4
+105 more
Copy number gain
not provided
GPathogenic
A2M, A2ML1
+193 more
Copy number gain
not provided
GPathogenic
A2M, A2ML1
+278 more
Copy number gain
not provided
GPathogenic
A2M, A2ML1
+278 more
Copy number gain
not provided
GPathogenic
A2M, A2ML1
+278 more
Copy number gain
not provided
GPathogenic
ACRBP, ACSM4
+101 more
Copy number gain
not provided
GPathogenic
ADIPOR2, AKAP3
+43 more
Copy number loss
not provided
GPathogenic
ADIPOR2, AKAP3
+42 more
Copy number loss
not provided
GPathogenic
ADIPOR2, AKAP3
+42 more
Copy number loss
not provided
GPathogenic
ADIPOR2, B4GALNT3
+27 more
Copy number loss
not provided
GPathogenic
ADIPOR2, B4GALNT3
+16 more
Copy number loss
not provided
GPathogenic
ERC1, WNK1
+2 more
Copy number gain
not provided
GLikely benign
A2M, A2ML1
+256 more
Copy number gain
See cases
GPathogenic
KCNA6, KCNJ8
+273 more
Copy number gain
See cases
GLikely pathogenic
SLC15A5, SLC16A7
+1006 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+1006 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+166 more
Copy number gain
See cases
GPathogenic
ADIPOR2, B4GALNT3
+15 more
Copy number gain
See cases
GUncertain significance
A2M, A2ML1
+278 more
Copy number gain
See cases
GPathogenic
GALNT8, H2AJ
+1007 more
Copy number gain
See cases
GPathogenic
ADIPOR2, CACNA1C
+6 more
Copy number gain
See cases
GUncertain significance
ACSM4, CCND2
+278 more
Copy number gain
See cases
GPathogenic
ADIPOR2, B4GALNT3
+27 more
Copy number loss
See cases
GPathogenic
A2M, A2ML1
+278 more
Copy number gain
See cases
GPathogenic
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