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Items: 1 to 100 of 462

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129388541, LOC129388542
+570 more
Copy number gain
See cases
GPathogenic
ACOT11, AK4
+421 more
Copy number gain
See cases
GLikely pathogenic
ACOT11, ALG6
+280 more
Copy number loss
See cases
GPathogenic
AK4, ALG6
+339 more
Copy number loss
See cases
GPathogenic
LOC132088736, LOC132088737
+557 more
Copy number loss
See cases
GPathogenic
AK4, ALG6
+275 more
Copy number loss
See cases
GPathogenic
LOC126805749, LOC126805750
+331 more
Copy number loss
See cases
GPathogenic
LOC129930732, LOC129930733
+269 more
Copy number loss
See cases
GPathogenic
AK4, ALG6
+252 more
Copy number loss
See cases
GPathogenic
AK4, ALG6
+129 more
Copy number gain
See cases
GPathogenic
ALG6, DLEU2L
+9 more
Deletion
Craniosynostosis syndrome
GUncertain significance
LOC129930668, PGM1
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
LOC129930668, PGM1
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
LOC129930668, PGM1
Single nucleotide variant
(5 prime UTR variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
LOC129930668, PGM1
(V2G)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
LOC129930668, PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
LOC129930668, PGM1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
LOC129930668, PGM1
(K8R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC129930668, PGM1
(K8N)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
LOC129930668, PGM1
(Q10fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
LOC129930668, PGM1
(Q13P)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
LOC129930668, PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
LOC129930668, PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
LOC129930668, PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
LOC129930668, PGM1
(T19R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC129930668, PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
LOC129930668, PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
LOC129930668, PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
+1 more
GLikely benign
LOC129930668, PGM1
(R25Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129930668, PGM1
(V26M)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
LOC129930668, PGM1
(F29fs)
Deletion
(frameshift variant)
PGM1-congenital disorder of glycosylation
GPathogenic
LOC129930668, PGM1
(F29fs)
Deletion
(frameshift variant)
PGM1-congenital disorder of glycosylation
GPathogenic
LOC129930668, PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
LOC129930668, PGM1
(S31G)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
LOC129930668, PGM1
(A33P)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
LOC129930668, PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
+1 more
GLikely benign
LOC129930668, PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
LOC129930668, PGM1
(Y35*)
Single nucleotide variant
(nonsense)
PGM1-related disorder
GUncertain significance
LOC129930668, PGM1
(A36V)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
LOC129930668, PGM1
(A36E)
Single nucleotide variant
(missense variant)
PGM1-related disorder
+2 more
GUncertain significance
PGM1, LOC129930668
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
LOC129930668, PGM1
(N38Y)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
GPathogenic
LOC129930668, PGM1
(I40fs)
Deletion
(frameshift variant)
PGM1-congenital disorder of glycosylation
GPathogenic
LOC129930668, PGM1
(I40T)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
LOC129930668, PGM1
(I40M)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
LOC129930668, PGM1
(Q41R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129930668, PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
LOC129930668, PGM1
(S42N)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
+1 more
GUncertain significance
LOC129930668, PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
LOC129930668, PGM1
(I44V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC129930668, PGM1
(S45F)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
LOC129930668, PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
LOC129930668, PGM1
(E48G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC129930668, PGM1
(Q51R)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
LOC129930668, PGM1
(R52Q)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
LOC129930668, PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
LOC129930668, PGM1
(Q53fs)
Indel
(frameshift variant)
not provided
+1 more
GPathogenic
LOC129930668, PGM1
(Q53R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC129930668, PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
LOC129930668, PGM1
(E54K)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
LOC129930668, PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
LOC129930668, PGM1
(L57P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129930668, PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
LOC129930668, PGM1
(G60R)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
LOC129930668, PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
+1 more
GLikely benign
PGM1, LOC129930668
(D62H)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
+1 more
GConflicting classifications of pathogenicity
LOC129930668, PGM1
(G63C)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
LOC129930668, PGM1
(R64Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC129930668, PGM1
(M67V)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
PGM1
(M67R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PGM1
(K68M)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
PGM1
(A70V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PGM1
(Q72H)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
PGM1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC129930669, PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GLikely benign
LOC129930669, PGM1
(G82R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC129930669, PGM1
(G82W)
Single nucleotide variant
(missense variant)
PGM1-congenital disorder of glycosylation
+1 more
GUncertain significance
LOC129930669, PGM1
Single nucleotide variant
(synonymous variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
LOC129930669, PGM1
Single nucleotide variant
(intron variant)
PGM1-congenital disorder of glycosylation
GLikely benign
LOC129930669, PGM1
Single nucleotide variant
(intron variant)
PGM1-congenital disorder of glycosylation
GLikely benign
PGM1, LOC129930669
Indel
(intron variant)
PGM1-congenital disorder of glycosylation
GUncertain significance
LOC129930669, PGM1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
PGM1, LOC129930669
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
LOC129930669, PGM1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
LOC129930669, PGM1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
PGM1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
PGM1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
PGM1
Single nucleotide variant
(intron variant)
not provided
GBenign
PGM1
Single nucleotide variant
(intron variant)
not provided
GBenign
PGM1
Deletion
(intron variant)
not provided
GBenign
PGM1
Single nucleotide variant
(intron variant)
not provided
GBenign
PGM1
Single nucleotide variant
(intron variant)
not provided
GBenign
PGM1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PGM1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
PGM1
Single nucleotide variant
(synonymous variant +1 more)
PGM1-related disorder
GLikely benign
PGM1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
PGM1
(C52Y)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PGM1
(E55G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PGM1
(E90V)
Single nucleotide variant
(missense variant +1 more)
PGM1-congenital disorder of glycosylation
+2 more
GConflicting classifications of pathogenicity
PGM1
Single nucleotide variant
(intron variant +1 more)
not provided
+1 more
GBenign/Likely benign
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