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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129931453, LOC129931454
+1585 more
Copy number gain
See cases
GPathogenic
ADAMTS4, ADCY10
+775 more
Copy number gain
See cases
GPathogenic
ADAMTS4, ALDH9A1
+371 more
Copy number loss
See cases
GPathogenic
DUSP23, LOC129931678
(P5S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUSP23, LOC129931678
(L12I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUSP23, LOC129931678
(L34V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUSP23, LOC129931678
(L56V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUSP23, LOC129931678
(H59L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUSP23, LOC129931678
(H59Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUSP23
(C67R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUSP23
(C67F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUSP23
(P68S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUSP23
(F99C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUSP23
(R114Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUSP23
(I122V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUSP23
(R129P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DUSP23
(Y146C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACKR1, ADAMTS4
+107 more
Copy number loss
not provided
GLikely pathogenic
TAGLN2, TOMM40L
+90 more
Duplication
Autoimmune interstitial lung disease-arthritis syndrome
GUncertain significance
CA14, CACNA1E
+956 more
Duplication
Gastrointestinal stromal tumor
+2 more
GUncertain significance
ACKR1, ADAMTS4
+132 more
Copy number loss
not provided
GPathogenic
BCAS2, CNTN2
+2014 more
Copy number gain
See cases
GPathogenic
FAM76A, FAM78B
+2014 more
Copy number gain
See cases
GPathogenic
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