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Items: 92

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
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
A2M, A2M-AS1
+1009 more
Copy number gain
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
LOC130008916, LOC130008917
+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
A2M, A2M-AS1
+853 more
Copy number gain
See cases
GPathogenic
CACNA1C, CACNA1C-AS1
+42 more
Copy number gain
See cases
GUncertain significance
AKAP3, CACNA1C
+91 more
Copy number loss
See cases
GPathogenic
CACNA1C, CACNA1C-AS1
+39 more
Copy number gain
See cases
GUncertain significance
LOC130007190, LOC130007191
+698 more
Copy number gain
See cases
GPathogenic
TEAD4
(S18F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TEAD4
(A30S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TEAD4
(S44N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TEAD4
(A56T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TEAD4
(S69L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TEAD4
(R77W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TEAD4
(R83C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TEAD4
(R111P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TEAD4
(D119H)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
TEAD4
(R152W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TEAD4
(G26S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TEAD4
(R156H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TEAD4
(V144A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEAD4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TEAD4
(G158V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEAD4
(A203T +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TEAD4
(Q86E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEAD4
(V176M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEAD4
(D111N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEAD4
(V205M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEAD4
(R139L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEAD4
(R158Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEAD4
(E195K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEAD4
(H375Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TEAD4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TEAD4
(H383Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AKAP3, CACNA1C
+23 more
Copy number loss
not specified
GLikely pathogenic
A2M, A2ML1
+278 more
Copy number gain
not specified
GPathogenic
ADIPOR2, AKAP3
+40 more
Copy number loss
not provided
GPathogenic
FGD4, FGF23
+278 more
Duplication
not provided
GPathogenic
CACNA1C, FKBP4
+6 more
Copy number gain
See cases
GLikely benign
AKAP3, ETFRF1
+278 more
Copy number gain
Pallister-Killian syndrome
GPathogenic
TEAD4, TSPAN9
Copy number gain
not provided
GUncertain significance
ACRBP, ACSM4
+105 more
Copy number gain
not provided
GPathogenic
AKAP3, C12orf4
+23 more
Copy number loss
not specified
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
ACRBP, ACSM4
+106 more
Copy number gain
Small hand
+6 more
GPathogenic
CRACR2A, ERC1
+93 more
Copy number gain
not provided
GPathogenic
ADIPOR2, B4GALNT3
+33 more
Copy number loss
not provided
GPathogenic
TEAD4, TSPAN9
Copy number gain
not provided
GUncertain significance
ART4, DYRK4
+278 more
Copy number gain
not provided
GPathogenic
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
RHNO1, TULP3
+2 more
Copy number gain
not provided
GUncertain significance
A2M, A2ML1
+256 more
Copy number gain
See cases
GPathogenic
KCNA6, KCNJ8
+273 more
Copy number gain
See cases
GLikely pathogenic
A2M, A2ML1
+1006 more
Copy number gain
See cases
GPathogenic
DBX2, DCD
+1006 more
Copy number gain
See cases
GPathogenic
CACNA1C, FKBP4
+8 more
Copy number gain
See cases
GUncertain significance
A2M, A2ML1
+166 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+278 more
Copy number gain
See cases
GPathogenic
AGAP2, ARF3
+1007 more
Copy number gain
See cases
GPathogenic
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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