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Items: 1 to 100 of 1038

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130006930, LOC130006931
+1199 more
Copy number gain
See cases
GPathogenic
ABCG4, ACRV1
+774 more
Copy number gain
See cases
GPathogenic
ABCG4, APOA1
+355 more
Copy number gain
See cases
GPathogenic
LOC130007012, LOC130007013
+769 more
Copy number gain
See cases
GPathogenic
LOC126861364, LOC126861365
+764 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+764 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+764 more
Copy number gain
See cases
GPathogenic
FRA11B, FXYD2
+763 more
Copy number gain
See cases
GPathogenic
ABCG4, ACRV1
+499 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+635 more
Copy number gain
See cases
GPathogenic
ABCG4, C2CD2L
+40 more
Copy number gain
See cases
GLikely benign
LOC130007028, LOC130007029
+608 more
Duplication
Schizophrenia
GLikely pathogenic
SLC37A4
Single nucleotide variant
(3 prime UTR variant)
Glycogen storage disease, type I
GBenign
SLC37A4
Single nucleotide variant
(3 prime UTR variant)
Glycogen storage disease, type I
GUncertain significance
SLC37A4
Single nucleotide variant
(3 prime UTR variant)
Glycogen storage disease, type I
GUncertain significance
SLC37A4
Single nucleotide variant
(3 prime UTR variant)
Glycogen storage disease, type I
GUncertain significance
SLC37A4
Single nucleotide variant
(3 prime UTR variant)
Glycogen storage disease, type I
GUncertain significance
SLC37A4
Single nucleotide variant
(3 prime UTR variant)
Glycogen storage disease, type I
GUncertain significance
SLC37A4
Single nucleotide variant
(3 prime UTR variant)
Glycogen storage disease, type I
GUncertain significance
SLC37A4
Single nucleotide variant
(3 prime UTR variant)
Glycogen storage disease, type I
GUncertain significance
SLC37A4
Single nucleotide variant
(3 prime UTR variant)
Glycogen storage disease, type I
GUncertain significance
SLC37A4
Single nucleotide variant
(3 prime UTR variant)
Glycogen storage disease, type I
+1 more
GBenign
SLC37A4
Deletion
(3 prime UTR variant)
not specified
GUncertain significance
SLC37A4
Single nucleotide variant
(3 prime UTR variant)
Glycogen storage disease, type I
GUncertain significance
SLC37A4
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
SLC37A4
Single nucleotide variant
(3 prime UTR variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
Single nucleotide variant
(3 prime UTR variant)
not specified
+1 more
GConflicting classifications of pathogenicity
SLC37A4
Single nucleotide variant
(3 prime UTR variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
Microsatellite
(3 prime UTR variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
Single nucleotide variant
(3 prime UTR variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
Single nucleotide variant
(3 prime UTR variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
Single nucleotide variant
(3 prime UTR variant)
Glycogen storage disease, type I
+1 more
GConflicting classifications of pathogenicity
SLC37A4
Single nucleotide variant
(3 prime UTR variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
Deletion
(frameshift variant)
Glucose-6-phosphate transport defect
GConflicting classifications of pathogenicity
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
(E451D +2 more)
Single nucleotide variant
(missense variant)
Phosphate transport defect
+2 more
GUncertain significance
SLC37A4
(E356A +2 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
+4 more
GConflicting classifications of pathogenicity
SLC37A4
(A428V +2 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
(K449A +2 more)
Indel
(missense variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
SLC37A4
(K353R +2 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
SLC37A4
(V446E +2 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
(V424L +2 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
(R423L +2 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
(R350* +2 more)
Single nucleotide variant
(nonsense)
Congenital disorder of glycosylation, type IIw
+2 more
GPathogenic/Likely pathogenic
SLC37A4
(G349A +2 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
(G422S +2 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
(K347E +2 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
(T441I +2 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
(R418C +2 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
+1 more
GUncertain significance
SLC37A4
(I344V +2 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
(R415* +2 more)
Single nucleotide variant
(nonsense)
Congenital disorder of glycosylation, type IIw
+2 more
GPathogenic/Likely pathogenic
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
(L414P +2 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
SLC37A4
(L340F +2 more)
Single nucleotide variant
(missense variant)
SLC37A4-related condition
GUncertain significance
SLC37A4
(F339S +2 more)
Single nucleotide variant
(missense variant)
SLC37A4-related condition
GUncertain significance
SLC37A4
(F338A +2 more)
Indel
(missense variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
(A409T +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type I
+1 more
GConflicting classifications of pathogenicity
SLC37A4
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
(S407T +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SLC37A4
Duplication
(inframe_insertion)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
(A333P +2 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
Single nucleotide variant
(synonymous variant)
Congenital disorder of glycosylation, type IIw
+2 more
GLikely benign
SLC37A4
(A405V +2 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
+2 more
GUncertain significance
SLC37A4
(C404* +2 more)
Single nucleotide variant
(nonsense)
Glucose-6-phosphate transport defect
GPathogenic
SLC37A4
(C404S +2 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
(I403T +2 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
(E401Q +2 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
(V399M +2 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
(F397fs +2 more)
Deletion
(frameshift variant)
Glucose-6-phosphate transport defect
GPathogenic
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
(W320* +2 more)
Single nucleotide variant
(nonsense)
Glucose-6-phosphate transport defect
GPathogenic
SLC37A4
(W320* +2 more)
Single nucleotide variant
(nonsense)
Glucose-6-phosphate transport defect
GPathogenic
SLC37A4
(W393G +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
(S414R +2 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
+3 more
GUncertain significance
SLC37A4
(S392R +2 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
(S392fs +2 more)
Deletion
(frameshift variant)
Glucose-6-phosphate transport defect
GPathogenic
SLC37A4
(S392N +2 more)
Single nucleotide variant
(missense variant)
Phosphate transport defect
+2 more
GUncertain significance
SLC37A4
(S319fs +2 more)
Insertion
(frameshift variant)
Glucose-6-phosphate transport defect
GPathogenic
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
(H390Y +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
(K389E +2 more)
Single nucleotide variant
(missense variant)
Glucose-6-phosphate transport defect
GUncertain significance
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
GLikely benign
SLC37A4
(I314V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
SLC37A4
Single nucleotide variant
(synonymous variant)
Glucose-6-phosphate transport defect
GLikely benign
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