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Items: 37

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACADM, ACOT11
+570 more
Copy number gain
See cases
GPathogenic
MIGA1, MIR101-1
+558 more
Copy number loss
See cases
GPathogenic
ACADM, AK4
+331 more
Copy number loss
See cases
GPathogenic
ACADM, ANKRD13C
+165 more
Copy number loss
See cases
GPathogenic
ACADM, AK5
+188 more
Duplication
not specified
GUncertain significance
LOC129930769, ACADM
+21 more
Deletion
Medium-chain acyl-coenzyme A dehydrogenase deficiency
GPathogenic
RABGGTB
(Q5R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RABGGTB
(I27V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RABGGTB
(E81D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RABGGTB
(T106M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RABGGTB
(I111M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RABGGTB
(I137V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RABGGTB
(I194M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RABGGTB
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RABGGTB
(P233L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RABGGTB
(I258T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RABGGTB
(K262E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RABGGTB
(V286A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACADM, ADGRL2
+52 more
Copy number loss
not provided
GLikely pathogenic
ACADM, ASB17
+4 more
Copy number loss
not provided
GUncertain significance
MCOLN3, MIGA1
+97 more
Copy number loss
not specified
GPathogenic
ACADM, ANKRD13C
+39 more
Copy number loss
not provided
GPathogenic
ACADM, ADGRL2
+65 more
Copy number loss
not provided
GPathogenic
ACADM, ADGRL2
+85 more
Deletion
not provided
Gnot provided
AGL, AGMAT
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
ACADM, AK5
+21 more
Copy number gain
not provided
GPathogenic
LRRIQ3, FPGT-TNNI3K
+14 more
Copy number gain
not provided
GLikely pathogenic
ACADM, ASB17
+14 more
Copy number gain
not provided
GUncertain significance
ACADM, AK5
+7 more
Copy number loss
See cases
GLikely pathogenic
ACADM, ADGRL2
+94 more
Copy number loss
See cases
GPathogenic
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
ACADM, ASB17
+4 more
Copy number gain
See cases
GLikely benign
ACADM, ADGRL2
+80 more
Copy number loss
See cases
GPathogenic
ACADM, ADGRL4
+24 more
Copy number gain
See cases
GUncertain significance
ACADM, ADGRL4
+78 more
Copy number loss
See cases
GPathogenic
RABGGTB
Copy number loss
See cases
GLikely benign
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