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Links from MedGen

Items: 1 to 100 of 778

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GCDH
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH
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
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH, LOC126862860
+1 more
Single nucleotide variant
(synonymous variant +2 more)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH
(I381V)
Single nucleotide variant
(missense variant +1 more)
Glutaric aciduria, type 1
GUncertain significance
GCDH
(S255P)
Single nucleotide variant
(missense variant +1 more)
Glutaric aciduria, type 1
GPathogenic
GCDH
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH
(S255W)
Single nucleotide variant
(missense variant +1 more)
Glutaric aciduria, type 1
GUncertain significance
GCDH
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH
(G354C)
Single nucleotide variant
(missense variant +1 more)
Glutaric aciduria, type 1
GPathogenic
GCDH
(R402G)
Single nucleotide variant
(missense variant +1 more)
Glutaric aciduria, type 1
GPathogenic
GCDH
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH
(K170N)
Single nucleotide variant
(missense variant +1 more)
Glutaric aciduria, type 1
GLikely pathogenic
GCDH
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(synonymous 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
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GLikely benign
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
(A293V)
Single nucleotide variant
(missense variant +1 more)
Glutaric aciduria, type 1
GPathogenic
GCDH
Single nucleotide variant
(splice donor variant)
Glutaric aciduria, type 1
GLikely pathogenic
GCDH
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH
Deletion
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH
(L84fs)
Deletion
(frameshift variant +1 more)
Glutaric aciduria, type 1
GPathogenic
GCDH
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH
(D187N)
Single nucleotide variant
(missense variant +1 more)
Glutaric aciduria, type 1
GUncertain significance
GCDH
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH
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
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH
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
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH
Deletion
(splice donor variant)
Glutaric aciduria, type 1
GPathogenic
GCDH
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(non-coding transcript variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH
(D396N)
Single nucleotide variant
(missense variant +1 more)
Glutaric aciduria, type 1
GLikely pathogenic
GCDH
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH
(E102fs)
Deletion
(frameshift variant +1 more)
Glutaric aciduria, type 1
GPathogenic
GCDH
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
(S255*)
Single nucleotide variant
(nonsense +1 more)
Glutaric aciduria, type 1
GPathogenic
GCDH
(G117R)
Single nucleotide variant
(missense variant +1 more)
Glutaric aciduria, type 1
GPathogenic
GCDH, LOC117125594
(Q37*)
Single nucleotide variant
(nonsense +1 more)
Glutaric aciduria, type 1
GPathogenic
GCDH
Single nucleotide variant
(synonymous 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
Single nucleotide variant
(splice acceptor variant)
Glutaric aciduria, type 1
GLikely pathogenic
GCDH
Single nucleotide variant
(synonymous variant +1 more)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
SYCE2, GCDH
+1 more
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH
Single nucleotide variant
(intron variant)
Glutaric aciduria, type 1
GLikely benign
GCDH, LOC126862860
+1 more
(G425V)
Single nucleotide variant
(missense variant +2 more)
Glutaric aciduria, type 1
GLikely pathogenic
GCDH
Single nucleotide variant
(splice donor variant)
Glutaric aciduria, type 1
GLikely pathogenic
GCDH
(Y398C)
Single nucleotide variant
(missense variant +1 more)
Glutaric aciduria, type 1
GPathogenic
GCDH
(G390W)
Single nucleotide variant
(missense variant +1 more)
Glutaric aciduria, type 1
GPathogenic
GCDH
(L309W)
Single nucleotide variant
(missense variant +1 more)
Glutaric aciduria, type 1
GUncertain significance
GCDH
(M263V)
Single nucleotide variant
(missense variant +1 more)
Glutaric aciduria, type 1
GLikely pathogenic
GCDH
(D220Y)
Single nucleotide variant
(missense variant +1 more)
Glutaric aciduria, type 1
GPathogenic
GCDH, LOC117125594
(R72L)
Single nucleotide variant
(missense variant +1 more)
Glutaric aciduria, type 1
GPathogenic
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