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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
WIPF3
(P2L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(P8L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(R46Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(I53T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(G56E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(R68C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(K81N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(A87T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(P111R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(V117A)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
WIPF3
(R129G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(N137S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(S141R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(T178S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(P179L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(P184L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(I196V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(P203S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(N211S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(N211T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(L212P)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
WIPF3
(A216T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(A216V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(P217T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(P217S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(P217H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(P218R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(P230L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(T233A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(T233M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(P239L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(S241P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(V248A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(L252R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(H256Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(G271R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(L296F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(P304L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(P327L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(A342T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(A344T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(A350V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(R365G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(G369S)
Single nucleotide variant
(missense variant)
not provided
GBenign
WIPF3
(T386A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(L388F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(L388I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(P400R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(G406S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(Q407H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(D430N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(F431V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
Single nucleotide variant
(synonymous variant)
not provided
GBenign
WIPF3
(S467F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
WIPF3
(N474D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADCYAP1R1, AQP1
+21 more
Copy number gain
not specified
GUncertain significance
ABCB5, CBX3
+75 more
Copy number loss
not specified
GPathogenic
ADCYAP1R1, AQP1
+50 more
Copy number loss
not provided
GPathogenic
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
ADCYAP1R1, AMPH
+53 more
Copy number gain
not specified
GLikely pathogenic
ABCB5, ADCYAP1R1
+117 more
Copy number gain
not specified
GLikely pathogenic
GHRHR, GGCT
+13 more
Copy number gain
not provided
GLikely pathogenic
WIPF3, PLEKHA8
+2 more
Copy number gain
not provided
GUncertain significance
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
NFE2L3, NOD1
+53 more
Deletion
Silver Russell Syndrome-related disorder
GPathogenic
AVL9, AZGP1
+896 more
Copy number gain
See cases
GPathogenic
MCM7, MDFIC
+896 more
Copy number gain
See cases
GPathogenic
FKBP14, MTURN
+4 more
Copy number gain
See cases
GUncertain significance
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
+68 more
Copy number loss
See cases
GPathogenic
ARMC10, ASB4
+504 more
Inversion
Childhood apraxia of speech
GPathogenic
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