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Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130007176, LOC130007283
+477 more
Deletion
Tumoral calcinosis, hyperphosphatemic, familial, 1
Gnot provided
ACRBP, ADIPOR2
+348 more
Copy number gain
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
A2M, A2M-AS1
+1009 more
Copy number gain
See cases
GPathogenic
LOC130007230, LOC130007231
+1257 more
Copy number gain
See cases
GPathogenic
FERRY3, FGD4
+4837 more
Copy number gain
See cases
GPathogenic
LOC126861494, LOC126861495
+1257 more
Copy number gain
See cases
GPathogenic
CACNA1C-AS2, CACNA1C-AS4
+1242 more
Copy number gain
See cases
GPathogenic
A2M, A2M-AS1
+853 more
Copy number gain
See cases
GPathogenic
LOC130007190, LOC130007191
+698 more
Copy number gain
See cases
GPathogenic
GAPDH, NCAPD2
Single nucleotide variant
(splice donor variant)
Microcephaly 21, primary, autosomal recessive
GPathogenic
GAPDH
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
GAPDH
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GLikely benign
GAPDH
(R76S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GAPDH
(V77F +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GAPDH
(H147R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAPDH
(P210R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GAPDH
(R305K +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
A2M, A2ML1
+278 more
Copy number gain
not provided
GPathogenic
ACRBP, CD27
+23 more
Duplication
Lymphoproliferative syndrome 2
GUncertain significance
A2M, A2ML1
+278 more
Copy number gain
not specified
GPathogenic
FGD4, FGF23
+278 more
Duplication
not provided
GPathogenic
PHC1, PIANP
+278 more
Copy number gain
Pallister-Killian syndrome
GPathogenic
A2ML1, ACRBP
+85 more
Duplication
Lymphoproliferative syndrome 2
GUncertain significance
ACRBP, ACSM4
+105 more
Copy number gain
not provided
GPathogenic
ACRBP, ATN1
+40 more
Copy number gain
not specified
GUncertain significance
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
+64 more
Duplication
not provided
GUncertain significance
PEX5, PHB2
+57 more
Duplication
Temtamy syndrome
GUncertain significance
CLEC4A, LRRC23
+106 more
Copy number gain
Single transverse palmar crease
+6 more
GPathogenic
CRACR2A, ERC1
+93 more
Copy number gain
not provided
GPathogenic
ACRBP, ATN1
+43 more
Duplication
Temtamy syndrome
GUncertain significance
ACRBP, ATN1
+43 more
Duplication
Peroxisome biogenesis disorder 2B
GUncertain significance
ART4, DYRK4
+278 more
Copy number gain
not provided
GPathogenic
CD27, CD9
+14 more
Copy number gain
not provided
GUncertain significance
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
SLCO1B1, SMCO3
+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
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
A2M, A2ML1
+278 more
Copy number gain
See cases
GPathogenic
GALNT8, H2AJ
+1007 more
Copy number gain
See cases
GPathogenic
ACSM4, CCND2
+278 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+278 more
Copy number gain
See cases
GPathogenic
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