U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 42

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARSD1, AATF
+2032 more
Copy number gain
See cases
GPathogenic
LOC126862582, LOC126862583
+1753 more
Copy number gain
See cases
GPathogenic
C17orf47, CCDC182
+168 more
Copy number loss
See cases
GPathogenic
LOC130061315, LOC130061316
+9 more
Deletion
Mulibrey nanism syndrome
GLikely pathogenic
GDPD1, LINC01476
+20 more
Copy number gain
See cases
GLikely benign
GDPD1, LINC01476
+20 more
Copy number gain
See cases
GBenign
PRR11
(K3N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR11
(R7Q)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PRR11
(E16K)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PRR11
(R55I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR11
(I73V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PRR11
(I91V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PRR11
(V115I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR11
(Q118H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR11
(T148I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR11
(A160S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR11
(P174S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR11
(P198A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR11
(A216P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR11
(R256W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR11
(T282R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR11
(G289R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR11
(R296Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR11
(P327A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR11
(T346A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRR11
(N360T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLTC, DHX40
+8 more
Duplication
not provided
GUncertain significance
AKAP1, APPBP2
+54 more
Duplication
Meckel-Gruber syndrome
+1 more
GUncertain significance
GDPD1, PRR11
+4 more
Copy number gain
not provided
GUncertain significance
PPM1E, PRR11
+3 more
Copy number loss
See cases
GPathogenic
GDPD1, PRR11
+4 more
Copy number gain
not provided
GUncertain significance
GDPD1, PPM1E
+4 more
Copy number gain
not provided
GUncertain significance
GDPD1, SMG8
+4 more
Copy number gain
not provided
GUncertain significance
APPBP2, BCAS3
+29 more
Copy number loss
See cases
GPathogenic
DHX40, GDPD1
+5 more
Copy number gain
See cases
GUncertain significance
ALOX12, ALOX12B
+1143 more
Copy number gain
See cases
GPathogenic
SPEM2, TBCD
+1143 more
Copy number gain
See cases
GPathogenic
CLTC, DHX40
+6 more
Copy number gain
See cases
GUncertain significance
AANAT, AATK
+458 more
Copy number gain
See cases
GPathogenic
AKAP1, ANKFN1
+42 more
Copy number gain
See cases
GPathogenic
AKAP1, ANKFN1
+65 more
Copy number gain
See cases
GPathogenic
TANC2, DDX42
+66 more
Copy number gain
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination