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Items: 1 to 100 of 2805

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130061805, LOC130061806
+1033 more
Copy number gain
See cases
GPathogenic
AANAT, AATK
+1013 more
Copy number gain
See cases
GPathogenic
AATK, ACTG1
+513 more
Copy number gain
See cases
GPathogenic
LOC126862671, LOC126862672
+387 more
Copy number gain
See cases
GPathogenic
AATK, ACTG1
+385 more
Copy number gain
See cases
GPathogenic
CCDC40, GAA
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign
CCDC40, GAA
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+4 more
GBenign
CCDC40, GAA
(R1071H)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 15
+2 more
GUncertain significance
CCDC40, GAA
(V1114M)
Single nucleotide variant
(missense variant)
Primary ciliary dyskinesia 15
+4 more
GBenign/Likely benign
GAA, CCDC40
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign
CCDC40, GAA
Single nucleotide variant
(3 prime UTR variant)
Glycogen storage disease, type II
+4 more
GBenign
CCDC40, GAA
Single nucleotide variant
(3 prime UTR variant)
Primary ciliary dyskinesia
+3 more
GBenign
CCDC40, GAA
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GBenign
CCDC40, GAA
Single nucleotide variant
(3 prime UTR variant)
Primary ciliary dyskinesia
+3 more
GBenign/Likely benign
CCDC40, GAA
Single nucleotide variant
(3 prime UTR variant)
Primary ciliary dyskinesia
+2 more
GBenign/Likely benign
GAA, LOC130061897
Single nucleotide variant
not provided
GBenign
GAA, LOC130061897
Single nucleotide variant
not provided
GLikely benign
GAA, LOC130061897
Single nucleotide variant
(genic upstream transcript variant)
not provided
GLikely benign
LOC130061897, CCDC40
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
Primary ciliary dyskinesia
+2 more
GBenign/Likely benign
GAA, LOC130061897
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
Primary ciliary dyskinesia 15
+1 more
GUncertain significance
GAA, LOC130061897
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GLikely benign
GAA, LOC130061897
Single nucleotide variant
(5 prime UTR variant +1 more)
GAA-related condition
+2 more
GConflicting classifications of pathogenicity
GAA, LOC130061897
Single nucleotide variant
(5 prime UTR variant +1 more)
GAA-related condition
GLikely benign
GAA, LOC130061897
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GLikely benign
CCDC40, GAA
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+2 more
GBenign/Likely benign
GAA, LOC130061897
Single nucleotide variant
(5 prime UTR variant +1 more)
Glycogen storage disease, type II
GUncertain significance
CCDC40, GAA
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+2 more
GBenign/Likely benign
GAA
Single nucleotide variant
(5 prime UTR variant +1 more)
Glycogen storage disease, type II
+1 more
GConflicting classifications of pathogenicity
GAA
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GLikely benign
GAA
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely benign
CCDC40, GAA
Single nucleotide variant
(5 prime UTR variant +2 more)
Primary ciliary dyskinesia 15
+2 more
GLikely benign
GAA
Single nucleotide variant
(5 prime UTR variant +2 more)
Glycogen storage disease, type II
GUncertain significance
GAA
Single nucleotide variant
(5 prime UTR variant +2 more)
GAA-related condition
GLikely benign
GAA
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GLikely benign
GAA
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GLikely benign
GAA, LOC130061898
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
GAA
Deletion
(splice acceptor variant +1 more)
Glycogen storage disease, type II
GPathogenic
GAA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GAA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease type II, infantile
GUncertain significance
GAA
Single nucleotide variant
(intron variant)
GAA-related condition
GLikely benign
GAA
Indel
(intron variant)
Glycogen storage disease, type II
GLikely pathogenic
GAA
Single nucleotide variant
(intron variant)
not specified
+1 more
GUncertain significance
GAA
Duplication
Glycogen storage disease, type II
GUncertain significance
GAA
Duplication
Glycogen storage disease, type II
GUncertain significance
GAA
Deletion
Glycogen storage disease, type II
GPathogenic
GAA
Single nucleotide variant
(intron variant)
GAA-related condition
+7 more
GPathogenic/Likely pathogenic
GAA
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
GAA
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GAA
Single nucleotide variant
(intron variant)
not specified
GLikely benign
GAA
Deletion
(intron variant)
Glycogen storage disease, type II
GUncertain significance
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GUncertain significance
GAA
Single nucleotide variant
(intron variant)
Glycogen storage disease, type II
GPathogenic
GAA
Single nucleotide variant
(splice acceptor variant)
Glycogen storage disease, type II
GPathogenic/Likely pathogenic
GAA
Single nucleotide variant
(splice acceptor variant)
Glycogen storage disease, type II
GLikely pathogenic
GAA
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
GAA
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
GAA
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
GAA
(M1L)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease, type II
GLikely pathogenic
GAA
(M1V)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease, type II
GPathogenic/Likely pathogenic
GAA
(M1T)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease, type II
GPathogenic
GAA
Indel
(nonsense +1 more)
not provided
GPathogenic
GAA
(M1I)
Single nucleotide variant
(missense variant +1 more)
Glycogen storage disease, type II
GPathogenic/Likely pathogenic
GAA
(G2*)
Single nucleotide variant
(nonsense)
Glycogen storage disease, type II
GLikely pathogenic
GAA
(G2A)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
+1 more
GUncertain significance
GAA
(V3A)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GUncertain significance
GAA
(R4K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GAA
(P6S)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GUncertain significance
GAA
(P6Q)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GUncertain significance
GAA
(P6L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GAA
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GAA
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GAA
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type II
GLikely benign
GAA
(S9P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GAA
(S9F)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GUncertain significance
GAA
(S9C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GAA
(H10L)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GUncertain significance
GAA
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type II
GLikely benign
GAA
(R11W)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GUncertain significance
GAA
(R11G)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GUncertain significance
GAA
(R11L)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GUncertain significance
GAA
(R11Q)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
GAA
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
GAA
(A14fs)
Deletion
(frameshift variant)
Glycogen storage disease, type II
GPathogenic
GAA
(A14V)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GUncertain significance
GAA
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type II
GLikely benign
GAA
(V15I)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GUncertain significance
GAA
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type II
GLikely benign
GAA
(A17S)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GUncertain significance
GAA
(A17T)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
+1 more
GUncertain significance
GAA
(L18F)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GUncertain significance
GAA
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type II
GLikely benign
GAA
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type II
GUncertain significance
GAA
(V19M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
GAA
(V19fs)
Deletion
(frameshift variant)
Glycogen storage disease, type II
GLikely pathogenic
GAA
(S20T)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GUncertain significance
GAA
(S20C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GAA
(T23A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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