U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 39

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A3GALT2, ACOT11
+1226 more
Inversion
Bilateral polymicrogyria
GLikely pathogenic
ACADM, ACOT11
+570 more
Copy number gain
See cases
GPathogenic
ACOT11, AK4
+422 more
Copy number gain
See cases
GLikely pathogenic
ECHDC2
(V242I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECHDC2
(R237Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECHDC2
(E245Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECHDC2
(R197Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECHDC2
(M263T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECHDC2
(G172E +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ECHDC2
(I215T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ECHDC2
(G242D +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ECHDC2
(V208M +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ECHDC2
(L150P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECHDC2
(R225Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECHDC2
(A189T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECHDC2
(A188T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECHDC2
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
ECHDC2
(H171Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECHDC2
(R134Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECHDC2
(L145P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ECHDC2
(A131V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ECHDC2
(R115W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECHDC2
(R32H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECHDC2
(R29Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ECHDC2
(R53C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECHDC2
(A36T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ECHDC2
(A20T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ECHDC2
(R17H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ECHDC2
(P13L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACOT11, AGBL4
+72 more
Copy number gain
not specified
GLikely pathogenic
SCP2, ZYG11A
+2 more
Copy number gain
not provided
GUncertain significance
COA7, ECHDC2
+3 more
Duplication
not provided
GUncertain significance
CYB5RL, EPS15
+49 more
Copy number loss
Abnormality of the kidney
+1 more
GPathogenic
SLC1A7, MAGOH
+11 more
Copy number gain
not provided
GLikely benign
AGL, AGMAT
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
CPT2, CZIB
+8 more
Copy number gain
See cases
GUncertain significance
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
LRP8, LRRC42
+42 more
Copy number loss
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination