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Items: 81

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
LOC129998210, LOC129998211
+1148 more
Copy number gain
See cases
GPathogenic
ABCB5, ACTB
+1298 more
Copy number gain
See cases
GPathogenic
ABCB5, ADCYAP1R1
+387 more
Copy number loss
See cases
GPathogenic
ADCYAP1R1, AQP1
+85 more
Copy number gain
See cases
GPathogenic
ADCYAP1R1, AQP1
+19 more
Copy number gain
See cases
GUncertain significance
AQP1
(K7R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AQP1
(F10C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AQP1
(A16V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AQP1
(T21M)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
AQP1
(T22N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AQP1
(P38L)
Single nucleotide variant
(missense variant)
Colton-null phenotype
GPathogenic
AQP1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
AQP1
(A45V)
Single nucleotide variant
(missense variant)
not provided
GBenign
AQP1
(Q47R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AQP1
(V50M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AQP1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
AQP1
(T62M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AQP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AQP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AQP1
(L95F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AQP1
(V103L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AQP1
(V107I)
Single nucleotide variant
(missense variant)
not provided
GBenign
AQP1
(V107G)
Single nucleotide variant
(missense variant)
not provided
GBenign
AQP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AQP1
Single nucleotide variant
(intron variant)
not provided
GBenign
AQP1
Single nucleotide variant
(intron variant)
not provided
GBenign
AQP1
(S135L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AQP1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
AQP1
(E142K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AQP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AQP1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
AQP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AQP1
(R159Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AQP1
(R162H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AQP1
(L164V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AQP1
(G165D)
Single nucleotide variant
(missense variant)
not provided
GBenign
AQP1
(G166R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AQP1
Single nucleotide variant
(intron variant)
not provided
GBenign
AQP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AQP1
Single nucleotide variant
(intron variant)
not provided
GBenign
AQP1
Deletion
(intron variant)
not provided
GBenign
AQP1
(I184T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AQP1
Duplication
(inframe_insertion)
not provided
GUncertain significance
AQP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AQP1
Deletion
(intron variant)
not provided
GBenign
AQP1
Single nucleotide variant
(intron variant)
not provided
GBenign
AQP1
Single nucleotide variant
(intron variant)
not provided
GBenign
AQP1
Single nucleotide variant
(intron variant)
not provided
GBenign
AQP1
(S236I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AQP1
(D258N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AQP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
AQP1
Microsatellite
(3 prime UTR variant +1 more)
not provided
GBenign
AQP1
Single nucleotide variant
(synonymous variant +1 more)
AQP1-related disorder
GLikely benign
AQP1
(T274I)
Single nucleotide variant
(missense variant +1 more)
AQP1-related disorder
GBenign
AQP1
(R292C)
Single nucleotide variant
(missense variant +1 more)
AQP1-related disorder
GLikely benign
AQP1, CRHR2
+9 more
Deletion
Charcot-Marie-Tooth disease type 2
GUncertain significance
ADCYAP1R1, AQP1
+21 more
Copy number gain
not specified
GUncertain significance
ADCYAP1R1, AQP1
+5 more
Copy number gain
not specified
GUncertain significance
ADCYAP1R1, AQP1
+50 more
Copy number loss
not provided
GPathogenic
ADCYAP1R1, AQP1
+6 more
Copy number gain
not provided
GUncertain significance
AASS, ABCA13
+896 more
Copy number loss
See cases
GUncertain significance
ADCYAP1R1, AQP1
+55 more
Copy number loss
Cyclical vomiting syndrome
GPathogenic
CACNA2D1, CADPS2
+896 more
Complex
Ring chromosome 7
GPathogenic
AQP1, CRHR2
+4 more
Duplication
Charcot-Marie-Tooth disease type 2
GUncertain significance
ADCYAP1R1, AMPH
+53 more
Copy number gain
not specified
GLikely pathogenic
ABCB5, ADCYAP1R1
+117 more
Copy number gain
not specified
GLikely pathogenic
AQP1, CRHR2
+10 more
Duplication
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GUncertain significance
GHRHR, GGCT
+13 more
Copy number gain
not provided
GLikely pathogenic
GHRHR, INMT
+22 more
Copy number gain
not provided
GLikely pathogenic
FKBP14, HNRNPA2B1
+61 more
Copy number loss
not provided
GPathogenic
PRSS1, PRSS37
+896 more
Copy number gain
not provided
GPathogenic
PPP1R17, NPSR1-AS1
+51 more
Copy number gain
not provided
GPathogenic
AVL9, AZGP1
+896 more
Copy number gain
See cases
GPathogenic
MCM7, MDFIC
+896 more
Copy number gain
See cases
GPathogenic
RP9, SCIN
+196 more
Copy number gain
See cases
GPathogenic
AASS, ABCA13
+678 more
Deletion
Pleomorphic xanthoastrocytoma
GPathogenic
ABCB5, ADCYAP1R1
+119 more
Copy number gain
See cases
GPathogenic
ADCYAP1R1, AQP1
+5 more
Copy number gain
See cases
GUncertain significance
ADCYAP1R1, AQP1
+68 more
Copy number loss
See cases
GPathogenic
ARMC10, ASB4
+504 more
Inversion
Childhood apraxia of speech
GPathogenic
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