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Items: 1 to 100 of 902

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862863, LOC126862864
+536 more
Copy number gain
See cases
GLikely pathogenic
LOC130063608, LOC130063609
+484 more
Copy number gain
See cases
GPathogenic
ACP5, ANGPTL8
+434 more
Copy number loss
See cases
GPathogenic
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
ACP5, BEST2
+261 more
Copy number loss
See cases
GPathogenic
LOC112543445, LOC112543446
+355 more
Copy number loss
See cases
GPathogenic
LOC129391074, LOC130063625
+351 more
Copy number gain
See cases
GPathogenic
ADGRE2, ADGRE3
+318 more
Copy number loss
See cases
GPathogenic
CALR, DAND5
+67 more
Copy number gain
See cases
GUncertain significance
CACNA1A, CALR
+96 more
Copy number gain
See cases
GPathogenic
GCDH, LOC117125594
Single nucleotide variant
(5 prime UTR variant +1 more)
Glutaric aciduria, type 1
GUncertain significance
GCDH, LOC117125594
Duplication
(5 prime UTR variant +1 more)
Elevated circulating glutaric acid concentration
GUncertain significance
GCDH, LOC117125594
Single nucleotide variant
(5 prime UTR variant +1 more)
Glutaric aciduria, type 1
GUncertain significance
GCDH, LOC117125594
Single nucleotide variant
(5 prime UTR variant +1 more)
Glutaric aciduria, type 1
GUncertain significance
LOC117125594, GCDH
Single nucleotide variant
(5 prime UTR variant +1 more)
Glutaric aciduria, type 1
GUncertain significance
GCDH, LOC117125594
Single nucleotide variant
(5 prime UTR variant +1 more)
Glutaric aciduria, type 1
+1 more
GConflicting classifications of pathogenicity
GCDH, LOC117125594
Single nucleotide variant
(intron variant)
not specified
GLikely benign
GCDH, LOC117125594
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GUncertain significance
LOC117125594, GCDH
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
GCDH, LOC117125594
Indel
(intron variant)
not specified
GLikely benign
GCDH, LOC117125594
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GCDH, LOC117125594
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
GCDH, LOC117125594
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
GCDH, LOC117125594
(M1V)
Single nucleotide variant
(missense variant +2 more)
not provided
GPathogenic
GCDH, LOC117125594
(M1L)
Single nucleotide variant
(missense variant +2 more)
Glutaric aciduria, type 1
GLikely pathogenic
GCDH, LOC117125594
(M1I)
Single nucleotide variant
(missense variant +2 more)
Glutaric aciduria, type 1
GLikely pathogenic
GCDH, LOC117125594
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH, LOC117125594
(L3fs)
Deletion
(frameshift variant +1 more)
Glutaric aciduria, type 1
GLikely pathogenic
GCDH, LOC117125594
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH, LOC117125594
(R4fs)
Duplication
(frameshift variant +1 more)
Glutaric aciduria, type 1
GPathogenic
GCDH, LOC117125594
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GLikely benign
LOC117125594, GCDH
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GLikely benign
GCDH, LOC117125594
(L10P)
Single nucleotide variant
(missense variant +1 more)
Glutaric aciduria, type 1
GUncertain significance
GCDH, LOC117125594
(R13H)
Single nucleotide variant
(missense variant +1 more)
GCDH-related disorder
+2 more
GConflicting classifications of pathogenicity
GCDH, LOC117125594
(G14fs)
Indel
(frameshift variant +1 more)
Glutaric aciduria, type 1
GLikely pathogenic
GCDH, LOC117125594
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH, LOC117125594
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH, LOC117125594
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH, LOC117125594
(L17V)
Single nucleotide variant
(missense variant +1 more)
Glutaric aciduria, type 1
GUncertain significance
GCDH, LOC117125594
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH, LOC117125594
Single nucleotide variant
(synonymous variant +1 more)
GCDH-related disorder
+1 more
GLikely benign
GCDH, LOC117125594
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH, LOC117125594
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
+1 more
GLikely benign
GCDH, LOC117125594
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH, LOC117125594
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH, LOC117125594
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH, LOC117125594
(S26del)
Microsatellite
(inframe_deletion +1 more)
Glutaric aciduria, type 1
GUncertain significance
GCDH, LOC117125594
(S25L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GCDH, LOC117125594
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH, LOC117125594
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH, LOC117125594
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH, LOC117125594
(A27fs)
Deletion
(frameshift variant +1 more)
Glutaric aciduria, type 1
GPathogenic/Likely pathogenic
GCDH, LOC117125594
(A27fs)
Deletion
(frameshift variant +1 more)
Glutaric aciduria, type 1
GLikely pathogenic
GCDH, LOC117125594
(A27V)
Single nucleotide variant
(missense variant +1 more)
Glutaric aciduria, type 1
GUncertain significance
GCDH, LOC117125594
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH, LOC117125594
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH, LOC117125594
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH, LOC117125594
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GBenign
GCDH, LOC117125594
(E31*)
Single nucleotide variant
(nonsense +1 more)
Glutaric aciduria, type 1
GPathogenic
GCDH, LOC117125594
Microsatellite
(intron variant)
Glutaric aciduria, type 1
GLikely benign
LOC117125594, GCDH
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GConflicting classifications of pathogenicity
GCDH, KLF1
+1 more
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
+3 more
GPathogenic
GCDH, LOC117125594
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH, LOC117125594
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH, LOC117125594
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH, LOC117125594
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH, LOC117125594
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GCDH, LOC117125594
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH, LOC117125594
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH, LOC117125594
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH, LOC117125594
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH, LOC117125594
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH, LOC117125594
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH, LOC117125594
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GCDH, LOC117125594
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH, LOC117125594
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH, LOC117125594
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+1 more
GLikely benign
GCDH, LOC117125594
(Q37fs)
Microsatellite
(frameshift variant +1 more)
Glutaric aciduria, type 1
GPathogenic
GCDH, LOC117125594
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH, LOC117125594
(Q37*)
Single nucleotide variant
(nonsense +1 more)
Glutaric aciduria, type 1
GPathogenic
GCDH, LOC117125594
(Q37R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GCDH, LOC117125594
(S38R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
GCDH, LOC117125594
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH, LOC117125594
(Q39P)
Single nucleotide variant
(missense variant +1 more)
Glutaric aciduria, type 1
GUncertain significance
LOC117125594, GCDH
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH, LOC117125594
(A41fs)
Deletion
(frameshift variant +1 more)
Glutaric aciduria, type 1
GPathogenic
GCDH, LOC117125594
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH, LOC117125594
(A41V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GCDH, LOC117125594
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH, LOC117125594
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
+1 more
GLikely benign
GCDH, LOC117125594
(K42*)
Single nucleotide variant
(nonsense +1 more)
Glutaric aciduria, type 1
GLikely pathogenic
GCDH, LOC117125594
Single nucleotide variant
(non-coding transcript variant +1 more)
Glutaric aciduria, type 1
GPathogenic
GCDH, LOC117125594
Single nucleotide variant
(non-coding transcript variant +1 more)
Glutaric aciduria, type 1
+1 more
GPathogenic
GCDH, LOC117125594
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+1 more
GLikely benign
GCDH, LOC117125594
Single nucleotide variant
(non-coding transcript variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH, LOC117125594
Single nucleotide variant
(non-coding transcript variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH, LOC117125594
Single nucleotide variant
(non-coding transcript variant +1 more)
Glutaric aciduria, type 1
GBenign
GCDH, LOC117125594
Single nucleotide variant
(non-coding transcript variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH, LOC117125594
Single nucleotide variant
(non-coding transcript variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH, LOC117125594
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GBenign
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