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Items: 1 to 100 of 407

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HAAO, HADHA
+2457 more
Copy number gain
See cases
GBenign
AAK1, ACTG2
+768 more
Copy number gain
See cases
GPathogenic
ACTR2, AFTPH
+173 more
Copy number loss
See cases
GPathogenic
AAK1, ACTR2
+216 more
Copy number loss
See cases
GLikely pathogenic
LOC129933945, SLC1A4
Deletion
(intron variant)
not provided
GBenign
LOC129933945, SLC1A4
Deletion
(intron variant)
not provided
GBenign
LOC129933945, SLC1A4
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC129933945, SLC1A4
Single nucleotide variant
(intron variant)
not provided
GBenign
SLC1A4
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
SLC1A4
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
SLC1A4
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
SLC1A4
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
SLC1A4
(M1T)
Single nucleotide variant
(missense variant +2 more)
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
GPathogenic
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
(A14T)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign/Likely benign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
(G17R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
(P22H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC1A4
(P22L)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
(G23E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
(T27A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
(G30R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC1A4
(R31C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
(R34H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC1A4
(G37R)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
(F38S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
(L58fs)
Deletion
(frameshift variant +1 more)
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
+1 more
GConflicting classifications of pathogenicity
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
(G57fs)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
(G57V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
SLC1A4-related disorder
GLikely benign
SLC1A4
(A61V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
(L65F)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SLC1A4
(L67V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
(R69C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SLC1A4
(T70M)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
(Y74C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
(E80D)
Single nucleotide variant
(missense variant +1 more)
Microcephaly
GUncertain significance
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
(L91P)
Single nucleotide variant
(missense variant +1 more)
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
+1 more
GUncertain significance
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
(G115D)
Single nucleotide variant
(missense variant +1 more)
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
GLikely pathogenic
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
(A119V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SLC1A4
Single nucleotide variant
(intron variant +1 more)
not provided
GLikely benign
SLC1A4
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
Display optionsSort by LocationDownload
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