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Items: 38

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
DGAT2, LOC130006439
(S33P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGAT2
(V82A)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease type 2A1
GUncertain significance
DGAT2
(K75T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGAT2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DGAT2
(R175W +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DGAT2
(Y223H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DGAT2
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
DGAT2
(I192M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGAT2
(M248R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGAT2
(G207D +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
DGAT2
(R216C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DGAT2
(R225C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGAT2
(Y277H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGAT2
(Y242* +1 more)
Single nucleotide variant
(nonsense)
not provided
GBenign
DGAT2
(W252R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGAT2
(R254* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
DGAT2
(R254Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
DGAT2
(K301E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGAT2
(K258R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGAT2
(I270V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGAT2
(G275S +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
DGAT2
(L276F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGAT2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DGAT2
(T292I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DGAT2
(P345L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGAT2
(I312M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGAT2
(M320L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGAT2
(P337L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DGAT2
(P337Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DGAT2
(E386A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FOLR2, RAB3IL1
+362 more
Copy number gain
not provided
GPathogenic
MAML2, MAP3K11
+955 more
Copy number gain
MISSED ABORTION
GPathogenic
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
AAMDC, AASDHPPT
+261 more
Copy number gain
not provided
GPathogenic
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
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