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Links from Gene

Items: 39

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IFT22
(G15R)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
IFT22
(S103N +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
IFT22
(A81V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IFT22
(A76V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACHE, ACTL6B
+93 more
Copy number loss
not specified
GLikely pathogenic
ACHE, AP1S1
+20 more
Copy number loss
not specified
GPathogenic
CYP3A4, CYP3A43
+73 more
Copy number loss
not provided
GPathogenic
CLDN15, COL26A1
+4 more
Copy number gain
not provided
GUncertain significance
AP1S1, CLDN15
+13 more
Copy number gain
not provided
GUncertain significance
IFT22
(R19Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IFT22
(I29T)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
IFT22
(G66A)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
IFT22
(R19W +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IFT22
(P80L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IFT22
(C73Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IFT22
(I169V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IFT22
(E42D)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
IFT22
(N89I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IFT22
(H65D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IFT22
(K101R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IFT22
(R128Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AASS, ABCA13
+896 more
Copy number loss
See cases
GUncertain significance
CACNA2D1, CADPS2
+896 more
Complex
Ring chromosome 7
GPathogenic
ALKBH4, ANKRD7
+95 more
Copy number loss
not specified
GPathogenic
ACHE, ACTL6B
+123 more
Copy number loss
not specified
GPathogenic
ACHE, ACTL6B
+77 more
Copy number loss
See cases
GLikely pathogenic
PRSS1, PRSS37
+896 more
Copy number gain
not provided
GPathogenic
AASS, ABCB8
+436 more
Copy number gain
not provided
GPathogenic
CYP3A43, GJC3
+99 more
Copy number loss
not provided
GPathogenic
AVL9, AZGP1
+896 more
Copy number gain
See cases
GPathogenic
MCM7, MDFIC
+896 more
Copy number gain
See cases
GPathogenic
COL26A1, CUX1
+3 more
Copy number loss
See cases
GUncertain significance
AASS, ABCA13
+678 more
Deletion
Pleomorphic xanthoastrocytoma
GPathogenic
ARMC10, ASB4
+504 more
Inversion
Childhood apraxia of speech
GPathogenic
ACHE, ACTL6B
+283 more
Copy number gain
See cases
GUncertain significance
LOC123956257, LOC123956258
+2213 more
Copy number gain
See cases
GPathogenic
ACHE, ACTL6B
+310 more
Copy number loss
See cases
GPathogenic
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
ACHE, ACTL6B
+207 more
Copy number loss
See cases
GPathogenic
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