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Links from MedGen

Items: 1 to 100 of 535

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
G6PC1
(G118R)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely pathogenic
G6PC1
(A192V +1 more)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GUncertain significance
G6PC1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
(L125F)
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
Microsatellite
(intron variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
Single nucleotide variant
(splice donor variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GPathogenic
G6PC1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
(A56D)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GUncertain significance
G6PC1
(W244*)
Single nucleotide variant
(nonsense +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GPathogenic
G6PC1
(T255N)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely pathogenic
G6PC1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
(V45L)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GUncertain significance
G6PC1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
(W77*)
Single nucleotide variant
(nonsense)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GPathogenic
G6PC1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
(G132R)
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
(G222fs)
Duplication
(frameshift variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GPathogenic
G6PC1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
(W236G)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely pathogenic
G6PC1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
(Y23*)
Single nucleotide variant
(nonsense)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GPathogenic
G6PC1
(F43L)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GUncertain significance
G6PC1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
(C245*)
Single nucleotide variant
(nonsense +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GPathogenic
G6PC1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
(V348fs)
Deletion
(frameshift variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GUncertain significance
G6PC1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
Single nucleotide variant
(splice acceptor variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely pathogenic
G6PC1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
(L335fs)
Deletion
(frameshift variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GPathogenic
G6PC1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
+1 more
GLikely benign
G6PC1
Deletion
(splice acceptor variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GPathogenic
G6PC1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
(D119H)
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
(M5I)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely pathogenic
G6PC1
(P84S)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GUncertain significance
G6PC1
(A137T)
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
(W87*)
Single nucleotide variant
(nonsense)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GPathogenic
G6PC1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
(I154fs +1 more)
Deletion
(frameshift variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GPathogenic
G6PC1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
(V33E)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GUncertain significance
G6PC1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
(C109R)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GPathogenic
G6PC1
(F322L)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely pathogenic
G6PC1
Single nucleotide variant
(intron variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
Single nucleotide variant
(synonymous variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
Single nucleotide variant
(synonymous variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely benign
G6PC1
(H52L)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GUncertain significance
G6PC1
(I102K)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely pathogenic
G6PC1
(R83S)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely pathogenic
G6PC1
(P113L)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GUncertain significance
G6PC1
(W63C)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GUncertain significance
G6PC1
(P248fs)
Deletion
(frameshift variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GPathogenic
G6PC1
Deletion
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GPathogenic
G6PC1
Duplication
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GUncertain significance
G6PC1
Duplication
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GLikely pathogenic
G6PC1
Duplication
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GUncertain significance
G6PC1
Deletion
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GPathogenic
G6PC1
Deletion
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GPathogenic
G6PC1
Deletion
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GPathogenic
G6PC1
(A346T)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GUncertain significance
G6PC1
(S326C)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
+1 more
GUncertain significance
G6PC1
(K263fs)
Deletion
(frameshift variant +1 more)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
GPathogenic
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