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Items: 42

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130006424, LOC130006425
+305 more
Copy number loss
See cases
GPathogenic
AAMDC, ACER3
+355 more
Copy number loss
See cases
GPathogenic
COA4, FAM168A
+20 more
Copy number gain
See cases
GUncertain significance
C2CD3, COA4
+32 more
Copy number gain
See cases
GUncertain significance
COA4, LOC116216151
+15 more
Copy number gain
See cases
GUncertain significance
PLEKHB1
(D10Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PLEKHB1
(G26S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHB1
(R21W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHB1
(G52A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHB1
(E43K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHB1
(D74E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHB1
(T110I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHB1
(P113S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PLEKHB1
(A116T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PLEKHB1
(R123L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PLEKHB1
(R143W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PLEKHB1
(V133I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHB1
(P117Q +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHB1
(Y156H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHB1
(E142K +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHB1
(P142S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHB1
(Y162C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHB1
(V167M +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHB1
(I187R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHB1
(S160G +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHB1
(S214R +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PLEKHB1
(T210A +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARAP1, ARAP1-AS2
+25 more
Copy number loss
not provided
GUncertain significance
FOLR2, RAB3IL1
+362 more
Copy number gain
not provided
GPathogenic
ANAPC15, ARAP1
+63 more
Duplication
3-methylglutaconic aciduria, type VIIB
GUncertain significance
MAML2, MAP3K11
+955 more
Copy number gain
MISSED ABORTION
GPathogenic
COA4, MRPL48
+3 more
Copy number gain
not specified
GUncertain significance
FAM168A, MRPL48
+2 more
Copy number gain
not provided
GLikely benign
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
COA4, RAB6A
+3 more
Copy number gain
not provided
GUncertain significance
C2CD3, COA4
+8 more
Copy number gain
not provided
GUncertain significance
AAMDC, AASDHPPT
+261 more
Copy number gain
not provided
GPathogenic
COA4, UCP3
+8 more
Copy number gain
not provided
GUncertain significance
PLEKHB1, RAB6A
+4 more
Copy number gain
not provided
GLikely benign
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
UCP3, COA4
+7 more
Copy number gain
See cases
GUncertain significance
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