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Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130065566, LOC130065567
+2522 more
Copy number gain
See cases
GPathogenic
LOC125387319, LOC125387320
+1024 more
Copy number gain
See cases
GPathogenic
ABHD16B, ADRM1
+553 more
Copy number gain
See cases
GLikely pathogenic
AURKA, BMP7
+91 more
Copy number loss
See cases
GPathogenic
ANKRD60, APCDD1L
+175 more
Copy number gain
See cases
GLikely pathogenic
ABHD16B, ADRM1
+491 more
Copy number gain
See cases
GPathogenic
AURKA
Single nucleotide variant
(3 prime UTR variant)
AURKA-related condition
GBenign
AURKA
(R361I +2 more)
Single nucleotide variant
(missense variant)
Colorectal cancer
GUncertain significance
AURKA
(T346I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AURKA
(F346L)
Single nucleotide variant
(missense variant)
Multiple myeloma
GLikely pathogenic
AURKA
Single nucleotide variant
(intron variant)
AURKA-related condition
GLikely benign
AURKA, LOC126863064
(A105V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AURKA, LOC126863064
(S104L +1 more)
Single nucleotide variant
(missense variant)
AURKA-related condition
GLikely benign
AURKA, LOC126863064
(Q74H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AURKA, LOC126863064
(P104L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
AURKA, LOC126863064
(K63N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AURKA, LOC126863064
(I57V +1 more)
Single nucleotide variant
(synonymous variant +1 more)
AURKA-related condition
GBenign
AURKA, LOC126863064
(F31I)
Single nucleotide variant
(missense variant)
AURKA-related condition
+1 more
GBenign
AURKA
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ABHD16B, ADRM1
+113 more
Copy number gain
See cases
GUncertain significance
AURKA, BCAS1
+13 more
Copy number gain
not provided
GUncertain significance
ANKRD60, APCDD1L
+36 more
Deletion
not provided
GUncertain significance
GATA5, ZBTB46
+116 more
Copy number gain
not provided
GPathogenic
ADRM1, ANKRD60
+86 more
Copy number gain
not provided
GPathogenic
KIF3B, KIZ
+540 more
Copy number gain
See cases
GPathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
AURKA, CASS4
+8 more
Copy number gain
See cases
GUncertain significance
ABHD16B, ADRM1
+116 more
Copy number gain
See cases
GLikely pathogenic
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