U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 52

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DENND5A, DNHD1
+723 more
Copy number gain
See cases
GPathogenic
A-GAMMA3'E, ANO9
+388 more
Copy number gain
See cases
GPathogenic
TRIM22, TRIM3
+917 more
Copy number gain
See cases
GPathogenic
ASCL2, BGLT3
+328 more
Deletion
Thalassemia, gamma-delta-beta
GPathogenic
MMP26, OR52R1
(G303R)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
MMP26, OR52R1
(I294N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MMP26, OR52R1
(P292S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MMP26, OR52R1
(L282P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MMP26, OR52R1
(L278P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MMP26, OR52R1
(D270N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MMP26, OR52R1
(R266C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MMP26, OR52R1
(L254F)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
MMP26, OR52R1
(V222M)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
MMP26, OR52R1
(R199G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MMP26, OR52R1
(F171L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MMP26, OR52R1
(R168T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MMP26, OR52R1
(W158L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MMP26, OR52R1
(V151M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MMP26, OR52R1
(L123P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MMP26, OR52R1
(A122S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MMP26, OR52R1
(P82L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MMP26, OR52R1
(L76F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MMP26, OR52R1
(M62T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MMP26, OR52R1
(H56P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MMP26, OR52R1
(V43A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MMP26, OR52R1
(T37M)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
MMP26, OR52R1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MMP26, OR52R1
(Q27H)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
MMP26, OR52R1
(P21S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ANO9, AP2A2
+210 more
Copy number gain
Russell-Silver syndrome
GPathogenic
CAVIN3, CCKBR
+205 more
Copy number gain
not provided
GPathogenic
CYP2R1, DBX1
+308 more
Copy number gain
See cases
GPathogenic
OR51F1, OR51F2
+2 more
Copy number loss
not provided
GLikely benign
IFITM5, SIGIRR
+137 more
Copy number gain
not provided
Gnot provided
ANO9, AP2A2
+109 more
Copy number gain
See cases
GPathogenic
CHRNA10, CNGA4
+208 more
Copy number gain
Silver-Russell syndrome 1
GPathogenic
CALCB, CARS1
+343 more
Copy number gain
not provided
GPathogenic
C11orf40, C11orf42
+243 more
Copy number gain
Silver-Russell syndrome 1
GPathogenic
ADM, AKIP1
+258 more
Copy number gain
not provided
GPathogenic
AKIP1, ANO9
+222 more
Copy number gain
not provided
GPathogenic
MMP26, OR51A2
+17 more
Copy number gain
See cases
GLikely benign
MMP26, OR51A2
+17 more
Copy number gain
See cases
GLikely benign
C11orf40, OR51D1
+15 more
Copy number gain
See cases
GLikely benign
DEAF1, DENND2B
+327 more
Copy number gain
See cases
GPathogenic
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
ASCL3, CEND1
+305 more
Copy number gain
See cases
GPathogenic
ART5, CCDC34
+364 more
Copy number gain
See cases
GPathogenic
C11orf40, OR51D1
+12 more
Copy number gain
See cases
GUncertain significance
OR51G2, OR51L1
+132 more
Copy number gain
See cases
GPathogenic
C11orf40, OR51D1
+15 more
Copy number loss
See cases
GUncertain significance
OR51G2, OR51L1
+28 more
Copy number gain
Abnormal esophagus morphology
GLikely pathogenic
Format
Items per page
Sort by
Choose Destination