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Items: 44

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A2ML1, A2ML1-AS1
+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
LOC126861417, LOC126861418
+147 more
Copy number loss
See cases
GPathogenic
A2M, A2M-AS1
+1258 more
Copy number gain
See cases
GPathogenic
A2M, A2M-AS1
+1258 more
Copy number gain
See cases
GPathogenic
LOC130007649, LOC130007650
+1258 more
Copy number gain
See cases
GPathogenic
ADIPOR2, B4GALNT3
+170 more
Copy number loss
See cases
GPathogenic
LOC102723544, LOC105369595
+114 more
Copy number loss
See cases
GPathogenic
LOC124625919, LOC124625920
+1009 more
Copy number gain
See cases
GPathogenic
ADIPOR2, B4GALNT3
+123 more
Copy number loss
See cases
GPathogenic
A2M, A2M-AS1
+1257 more
Copy number gain
See cases
GPathogenic
ADIPOR2, B4GALNT3
+146 more
Copy number loss
See cases
GPathogenic
LOC126861648, LOC126861649
+4836 more
Copy number gain
See cases
GPathogenic
LOC130007425, LOC130007426
+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
WBP11, WNK1
+1242 more
Copy number gain
See cases
GPathogenic
LOC130007148, LOC130007149
+223 more
Copy number gain
See cases
GPathogenic
PRB2, PRB3
+853 more
Copy number gain
See cases
GPathogenic
CACNA1C, CACNA1C-AS1
+42 more
Copy number gain
See cases
GUncertain significance
AKAP3, C12orf4
+91 more
Copy number loss
See cases
GPathogenic
CACNA1C, CACNA1C-AS1
+39 more
Copy number gain
See cases
GUncertain significance
FKBP4, ITFG2-AS1
+1 more
(E45A)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
FKBP4, ITFG2-AS1
(K181Q)
Single nucleotide variant
(missense variant)
not provided
GBenign
FKBP4, ITFG2-AS1
(R189H)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ITFG2-AS1, FKBP4
(R210C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FKBP4, ITFG2-AS1
(V219L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ITFG2-AS1, FKBP4
(G231W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FKBP4, ITFG2-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
FKBP4, ITFG2-AS1
(G284S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ITFG2-AS1, FKBP4
(N308S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
ITFG2-AS1, FKBP4
(N343D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FKBP4, ITFG2-AS1
(N351K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FKBP4, ITFG2-AS1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
FKBP4, ITFG2-AS1
(V395M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FKBP4, ITFG2-AS1
(R406Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FKBP4, ITFG2-AS1
(A425S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FKBP4, ITFG2-AS1
(M440T)
Single nucleotide variant
(missense variant)
FKBP4-related condition
GUncertain significance
FKBP4, ITFG2-AS1
(K441E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FKBP4, ITFG2-AS1
(S451R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FKBP4, ITFG2-AS1
(Q454H)
Single nucleotide variant
(missense variant)
not provided
GBenign
FKBP4, ITFG2-AS1
(T457R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ITFG2-AS1, ITFG2
(E13K)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
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