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Links from Gene

Items: 96

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDCD1
(R139Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACKR3, AGXT
+55 more
Deletion
Bethlem myopathy 1A
GPathogenic
ACKR3, AGAP1
+60 more
Copy number loss
not provided
GPathogenic
PDCD1
(E211D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDCD1
Single nucleotide variant
(synonymous variant)
PDCD1-related disorder
GLikely benign
PDCD1
Single nucleotide variant
(intron variant)
PDCD1-related disorder
GLikely benign
PDCD1
Single nucleotide variant
(intron variant)
PDCD1-related disorder
GLikely benign
PDCD1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CHRND, LRRFIP1
+123 more
Duplication
not provided
GPathogenic
PDCD1
(R115H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANO7, ACKR3
+59 more
Deletion
Bethlem myopathy 1A
GPathogenic
PDCD1
(R194Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDCD1
(V11I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDCD1
(N116I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDCD1
(A13V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGXT, ANKMY1
+39 more
Copy number loss
not provided
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
LOC122889013, LOC122889014
+274 more
Deletion
Chromosome 2q37 deletion syndrome
GPathogenic
AGXT, ANKMY1
+53 more
Deletion
D-2-hydroxyglutaric aciduria 1
GPathogenic
ANKMY1, ATG4B
+53 more
Duplication
D-2-hydroxyglutaric aciduria 1
+3 more
GUncertain significance
ACKR3, AGAP1
+59 more
Duplication
not provided
GUncertain significance
LOC100128563, MAB21L4
+37 more
Copy number gain
not provided
GUncertain significance
PDCD1
Single nucleotide variant
(intron variant)
not provided
GBenign
PDCD1
(A215V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
PDCD1
Single nucleotide variant
(intron variant)
not provided
GBenign
PDCD1
Single nucleotide variant
(intron variant)
not provided
GBenign
PDCD1
Single nucleotide variant
(intron variant)
not provided
GBenign
PDCD1
Single nucleotide variant
(intron variant)
not provided
GBenign
PDCD1
Single nucleotide variant
(intron variant)
not provided
GBenign
PDCD1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PDCD1
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
PDCD1
Deletion
(intron variant)
not provided
GBenign
PDCD1
Duplication
(intron variant)
not provided
GBenign
PDCD1
Insertion
(intron variant)
not provided
GBenign
PDCD1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
PDCD1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
PDCD1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
D2HGDH, DTYMK
+57 more
Deletion
Intellectual disability
GPathogenic
AAMP, ABCA12
+384 more
Copy number gain
See cases
GPathogenic
DTYMK, DUSP28
+96 more
Copy number loss
Chromosome 2q37 deletion syndrome
GPathogenic
AGXT, ANO7
+19 more
Copy number gain
See cases
GUncertain significance
AGXT, ANO7
+19 more
Copy number gain
See cases
GUncertain significance
AGXT, ANKMY1
+48 more
Copy number gain
See cases
GUncertain significance
ANO7, THAP4
+17 more
Copy number loss
not provided
GLikely pathogenic
PDCD1
Single nucleotide variant
(intron variant)
not provided
GBenign
AGXT, ANKMY1
+37 more
Copy number loss
See cases
GPathogenic
TWIST2, ANKMY1
+43 more
Copy number loss
Chromosome 2q37 deletion syndrome
GPathogenic
SCLY, SEPTIN2
+48 more
Copy number loss
Chromosome 2q37 deletion syndrome
GLikely pathogenic
PDCD1, RTP5
Copy number gain
not provided
GUncertain significance
ACKR3, AGAP1
+82 more
Copy number loss
See cases
GPathogenic
ANO7, ATG4B
+15 more
Copy number loss
See cases
GLikely pathogenic
D2HGDH, DTYMK
+36 more
Copy number gain
See cases
GPathogenic
LOC129935965, LOC129935966
+455 more
Copy number loss
See cases
GPathogenic
LOC110120629, LOC110120691
+986 more
Copy number gain
See cases
GPathogenic
ATG4B, BOK
+32 more
Copy number loss
See cases
GUncertain significance
LOC132088835, LOC132088836
+96 more
Copy number loss
See cases
GLikely pathogenic
AGXT, ANKMY1
+140 more
Copy number loss
See cases
GUncertain significance
AGXT, ANKMY1
+235 more
Copy number loss
See cases
GPathogenic
LOC122889015, LOC122889016
+287 more
Copy number loss
See cases
GPathogenic
AGXT, ANKMY1
+274 more
Copy number loss
See cases
GPathogenic
FAM240C, LINC01237
+5 more
Copy number loss
See cases
GBenign
AGXT, ANKMY1
+140 more
Copy number loss
See cases
GLikely pathogenic
AGXT, ANKMY1
+185 more
Copy number loss
See cases
GPathogenic
ACKR3, AGAP1
+318 more
Copy number loss
See cases
GPathogenic
ACKR3, AGAP1
+314 more
Copy number loss
See cases
GPathogenic
AGXT, ANKMY1
+145 more
Copy number loss
See cases
GPathogenic
AGXT, ANKMY1
+264 more
Copy number loss
See cases
GPathogenic
AAMP, ABCA12
+1148 more
Copy number gain
See cases
GPathogenic
AGXT, ANKMY1
+270 more
Copy number loss
See cases
GPathogenic
AGXT, ANKMY1
+138 more
Copy number loss
See cases
GPathogenic
AGXT, ANKMY1
+271 more
Copy number loss
See cases
GPathogenic
AGXT, ANKMY1
+127 more
Copy number loss
See cases
GLikely pathogenic
ATG4B, BOK
+44 more
Copy number loss
See cases
GUncertain significance
ATG4B, BOK
+39 more
Copy number gain
See cases
GUncertain significance
FAM240C, GAL3ST2
+9 more
Copy number loss
See cases
GBenign
ACKR3, AGAP1
+303 more
Copy number gain
See cases
GPathogenic
ACKR3, AGAP1
+311 more
Copy number gain
See cases
GPathogenic
LOC129935966, LOC129935967
+630 more
Copy number gain
See cases
GPathogenic
LOC129935726, LOC129935727
+1665 more
Copy number gain
See cases
GPathogenic
LOC129935343, LOC129935344
+1703 more
Copy number gain
See cases
GPathogenic
ATG4B, BOK
+56 more
Copy number loss
See cases
GPathogenic
AGXT, ANKMY1
+131 more
Copy number loss
See cases
GPathogenic
FAM240C, FARP2
+143 more
Copy number loss
See cases
GPathogenic
LOC129935970, LOC129935971
+251 more
Copy number loss
See cases
GPathogenic
ACKR3, AGAP1
+298 more
Copy number loss
See cases
GPathogenic
ACKR3, AGAP1
+309 more
Copy number loss
See cases
GPathogenic
PRLH, PRR21
+325 more
Copy number loss
See cases
GPathogenic
LOC126806577, LOC126806578
+334 more
Copy number loss
See cases
GPathogenic
RAB17-DT, RAMP1
+359 more
Copy number loss
See cases
GPathogenic
ACKR3, AGAP1
+361 more
Copy number loss
See cases
GPathogenic
HDAC4, HDAC4-AS1
+334 more
Copy number loss
See cases
GPathogenic
COPS9, CROCC2
+250 more
Copy number loss
See cases
GPathogenic
ACKR3, AGXT
+276 more
Copy number loss
See cases
GPathogenic
ATG4B, D2HGDH
+29 more
Copy number loss
See cases
GUncertain significance
ACKR3, AGAP1
+455 more
Copy number loss
See cases
GPathogenic
PDCD1
Single nucleotide variant
(intron variant)
Multiple sclerosis modifier of disease progression
+1 more
Grisk factor
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