U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 61

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
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
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
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
LOC130007190, LOC130007191
+698 more
Copy number gain
See cases
GPathogenic
LOC124625890, LOC126861422
+36 more
Copy number loss
Breast ductal adenocarcinoma
GUncertain significance
ANO2, KCNA1
+33 more
Copy number gain
See cases
GUncertain significance
ANO2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ANO2
(P825L +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ANO2
(I548V +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
ANO2, LOC107832854
+9 more
Copy number loss
See cases
GUncertain significance
ANO2
(R481C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
ANO2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANO2
(R85H +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
A2M, A2ML1
+278 more
Copy number gain
not specified
GPathogenic
ANO2, VWF
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
A2ML1, ACRBP
+85 more
Duplication
Lymphoproliferative syndrome 2
GUncertain significance
ACRBP, ACSM4
+105 more
Copy number gain
not provided
GPathogenic
ANO2, VWF
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
CLEC4A, LRRC23
+106 more
Copy number gain
Single transverse palmar crease
+6 more
GPathogenic
CRACR2A, ERC1
+93 more
Copy number gain
not provided
GPathogenic
ANO2, DYRK4
+12 more
Duplication
Episodic ataxia type 1
GUncertain significance
ANO2, VWF
Copy number loss
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
GALNT8, NTF3
+14 more
Copy number loss
not provided
GLikely pathogenic
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
Format
Items per page
Sort by
Choose Destination