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Links from Gene

Items: 45

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCC2, ABLIM1
+293 more
Copy number gain
not specified
GPathogenic
PCGF6
(T35N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PCGF6
(G13A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTG1, NPS
+679 more
Copy number gain
Distal trisomy 10q
GPathogenic
A1CF, ABCC2
+670 more
Copy number loss
Distal 10q deletion syndrome
GPathogenic
PCGF6
(A15T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PCGF6
(N201S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCGF6
(I326V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC130004633, PCGF6
(G3R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PCGF6
(E204K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCGF6
(E87Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PCGF6
(L125F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PCGF6
(A40G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PCGF6
(L125V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
ABCC2, ACTR1A
+95 more
Duplication
not provided
GUncertain significance
PCGF6
(P196L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PCGF6
(S59P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PCGF6
(R246H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
PCGF6
(I159V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PCGF6
(R74I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PCGF6
(V221L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ATP5MK, CALHM1
+13 more
Copy number gain
not provided
GUncertain significance
ATP5MK, CALHM1
+7 more
Copy number gain
not specified
GUncertain significance
C10orf95, CALHM1
+57 more
Copy number loss
not specified
GPathogenic
CALHM1, SH3PXD2A
+9 more
Copy number gain
not provided
GUncertain significance
PDCD11, CALHM2
+7 more
Copy number gain
not provided
GUncertain significance
PCGF6
Microsatellite
(inframe_insertion)
not provided
GBenign
PCGF6
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ATP5MK, CALHM1
+8 more
Copy number gain
not provided
GUncertain significance
ABCC2, ABLIM1
+298 more
Copy number gain
not provided
GPathogenic
NT5C2, WBP1L
+30 more
Copy number loss
not provided
GLikely pathogenic
COX15, CPEB3
+569 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
ABCC2, ABLIM1
+305 more
Copy number gain
See cases
GPathogenic
A1CF, ABCC2
+722 more
Copy number gain
See cases
GPathogenic
NFKB2, NHLRC2
+722 more
Copy number gain
See cases
GPathogenic
ATP5MK, CALHM1
+9 more
Copy number gain
See cases
GUncertain significance
A1CF, ANXA8L1
+723 more
Copy number gain
See cases
GPathogenic
CYP17A1, KLLN
+206 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
ABLIM1, ABRAXAS2
+201 more
Copy number gain
See cases
GPathogenic
ACSL5, ADD3
+318 more
Copy number loss
See cases
GPathogenic
ABLIM1, ABRAXAS2
+1097 more
Copy number gain
See cases
GPathogenic
LOC126861081, LOC126861082
+1036 more
Copy number gain
See cases
GPathogenic
ACTR1A, ARL3
+121 more
Copy number loss
See cases
GPathogenic
ABCC2, ABLIM1
+821 more
Copy number gain
See cases
GPathogenic
ACTR1A, ARL3
+135 more
Deletion
Desmoplastic/nodular medulloblastoma
GPathogenic
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