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Items: 59

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
PGM2L1
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
PGM2L1
Duplication
(intron variant)
not provided
GBenign
PGM2L1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PGM2L1
(S552N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PGM2L1
Single nucleotide variant
(intron variant)
not provided
GBenign
PGM2L1
(V531I)
Single nucleotide variant
(missense variant)
not provided
GBenign
PGM2L1
(R529Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PGM2L1
(R529W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PGM2L1
(T522I)
Single nucleotide variant
(missense variant)
PGM2L1-related disorder
GLikely benign
PGM2L1
(P517fs)
Deletion
(frameshift variant)
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities
GPathogenic
PGM2L1
(R506S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PGM2L1
(R506S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PGM2L1
(A453T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PGM2L1
Single nucleotide variant
(intron variant)
not provided
GBenign
PGM2L1
Single nucleotide variant
(intron variant)
not provided
GBenign
PGM2L1
(I437T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PGM2L1
(E435*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
GPathogenic
PGM2L1
(E428*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PGM2L1
(E401del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
PGM2L1
(N372fs)
Deletion
(frameshift variant)
not provided
GPathogenic
PGM2L1
(G347fs)
Deletion
(frameshift variant)
not provided
GPathogenic
PGM2L1
Single nucleotide variant
(intron variant)
not provided
GBenign
PGM2L1
(L343F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PGM2L1
(D334E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PGM2L1
Single nucleotide variant
(intron variant)
not provided
GBenign
PGM2L1
(D295G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PGM2L1
Microsatellite
(intron variant)
not provided
GBenign
PGM2L1
(K245N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PGM2L1
(R237K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
PGM2L1
(N214S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PGM2L1
Single nucleotide variant
(intron variant)
not provided
GBenign
PGM2L1
Single nucleotide variant
(intron variant)
not provided
GBenign
PGM2L1
Single nucleotide variant
(intron variant)
not provided
GBenign
PGM2L1
(S149L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PGM2L1
(D142G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PGM2L1
Single nucleotide variant
(intron variant)
not provided
GBenign
PGM2L1
Single nucleotide variant
(intron variant)
not provided
GBenign
PGM2L1
(G119V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PGM2L1
(R118Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PGM2L1
(S104P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PGM2L1
Single nucleotide variant
(intron variant)
not provided
GBenign
PGM2L1
Single nucleotide variant
(intron variant)
not provided
GBenign
PGM2L1
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities
GPathogenic
PGM2L1
Single nucleotide variant
(intron variant)
not provided
GBenign
PGM2L1
(P23fs)
Deletion
(frameshift variant)
not provided
GPathogenic
PGM2L1
(Y18fs)
Deletion
(frameshift variant)
not provided
GPathogenic
PGM2L1
(L14P)
Single nucleotide variant
(missense variant)
not provided
GBenign
PGM2L1
(N10T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PGM2L1
(G7R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
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
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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