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Links from MedGen

Items: 1 to 100 of 207

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GAMT
(E142del)
Microsatellite
(inframe_deletion)
Deficiency of guanidinoacetate methyltransferase
GUncertain significance
GAMT
(V78E)
Single nucleotide variant
(missense variant)
Deficiency of guanidinoacetate methyltransferase
GLikely pathogenic
GAMT, LOC130062945
(K39E)
Single nucleotide variant
(missense variant)
Deficiency of guanidinoacetate methyltransferase
GLikely pathogenic
GAMT
(E191K)
Single nucleotide variant
(missense variant)
Deficiency of guanidinoacetate methyltransferase
GUncertain significance
GAMT, LOC130062945
(S17fs)
Deletion
(frameshift variant)
Deficiency of guanidinoacetate methyltransferase
+1 more
GPathogenic/Likely pathogenic
GAMT
(Y137*)
Single nucleotide variant
(nonsense)
Deficiency of guanidinoacetate methyltransferase
GLikely pathogenic
GAMT
(Q79*)
Single nucleotide variant
(nonsense)
Deficiency of guanidinoacetate methyltransferase
GPathogenic
GAMT, LOC130062945
(K39fs)
Duplication
(frameshift variant)
Deficiency of guanidinoacetate methyltransferase
GLikely pathogenic
GAMT
(R204fs)
Indel
(frameshift variant)
Deficiency of guanidinoacetate methyltransferase
GLikely pathogenic
GAMT
(E199fs)
Duplication
(frameshift variant)
Deficiency of guanidinoacetate methyltransferase
GLikely pathogenic
GAMT
(L197P)
Single nucleotide variant
(missense variant)
Deficiency of guanidinoacetate methyltransferase
GLikely pathogenic
GAMT, LOC130062945
(W20fs)
Duplication
(frameshift variant)
Deficiency of guanidinoacetate methyltransferase
GPathogenic
GAMT
(M188I)
Single nucleotide variant
(missense variant)
Deficiency of guanidinoacetate methyltransferase
GLikely pathogenic
GAMT
(Q193*)
Single nucleotide variant
(nonsense)
Deficiency of guanidinoacetate methyltransferase
GPathogenic
GAMT, LOC130062945
(P4fs)
Deletion
(frameshift variant)
Deficiency of guanidinoacetate methyltransferase
GLikely pathogenic
GAMT
(H147Y)
Single nucleotide variant
(missense variant)
Deficiency of guanidinoacetate methyltransferase
GLikely pathogenic
GAMT
(D135Y)
Single nucleotide variant
(missense variant)
Deficiency of guanidinoacetate methyltransferase
GLikely pathogenic
GAMT
(G131R)
Single nucleotide variant
(missense variant)
Deficiency of guanidinoacetate methyltransferase
GLikely pathogenic
GAMT
(A74P)
Single nucleotide variant
(missense variant)
Deficiency of guanidinoacetate methyltransferase
GLikely pathogenic
GAMT
(G68C)
Single nucleotide variant
(missense variant)
Deficiency of guanidinoacetate methyltransferase
GLikely pathogenic
GAMT, LOC130062945
(A57D)
Single nucleotide variant
(missense variant)
Deficiency of guanidinoacetate methyltransferase
GUncertain significance
GAMT, LOC130062945
(A54P)
Single nucleotide variant
(missense variant)
Deficiency of guanidinoacetate methyltransferase
GLikely pathogenic
GAMT
(N92D)
Single nucleotide variant
(missense variant)
Deficiency of guanidinoacetate methyltransferase
GUncertain significance
GAMT
(L113F)
Single nucleotide variant
(missense variant)
Deficiency of guanidinoacetate methyltransferase
GUncertain significance
GAMT
(W174C)
Single nucleotide variant
(missense variant)
Deficiency of guanidinoacetate methyltransferase
GUncertain significance
GAMT, LOC130062945
(W45*)
Single nucleotide variant
(nonsense)
Deficiency of guanidinoacetate methyltransferase
GPathogenic
GAMT, LOC130062945
(C16*)
Single nucleotide variant
(nonsense)
Deficiency of guanidinoacetate methyltransferase
GPathogenic
GAMT, LOC130062945
(H51P)
Single nucleotide variant
(missense variant)
Deficiency of guanidinoacetate methyltransferase
GLikely pathogenic
GAMT
(I111fs)
Deletion
(frameshift variant)
Cerebral creatine deficiency syndrome
+1 more
GPathogenic/Likely pathogenic
GAMT
(L159fs)
Deletion
(frameshift variant)
Deficiency of guanidinoacetate methyltransferase
+1 more
GPathogenic/Likely pathogenic
GAMT
(W117*)
Single nucleotide variant
(nonsense)
Cerebral creatine deficiency syndrome
+1 more
GPathogenic/Likely pathogenic
GAMT, LOC130062945
(E14D)
Single nucleotide variant
(missense variant)
Cerebral creatine deficiency syndrome
+1 more
GUncertain significance
GAMT
(W174R)
Single nucleotide variant
(missense variant)
Deficiency of guanidinoacetate methyltransferase
GLikely pathogenic
GAMT
(E176fs)
Duplication
(frameshift variant)
Deficiency of guanidinoacetate methyltransferase
GPathogenic
GAMT, LOC130062945
(A22fs)
Duplication
(frameshift variant)
Deficiency of guanidinoacetate methyltransferase
GPathogenic
GAMT
(V191M)
Single nucleotide variant
(missense variant +1 more)
Cerebral creatine deficiency syndrome
GUncertain significance
GAMT
(Y134*)
Single nucleotide variant
(nonsense)
Deficiency of guanidinoacetate methyltransferase
+1 more
GPathogenic/Likely pathogenic
GAMT
(L159P)
Single nucleotide variant
(missense variant)
Deficiency of guanidinoacetate methyltransferase
GLikely pathogenic
GAMT
(Q193R)
Single nucleotide variant
(missense variant)
Deficiency of guanidinoacetate methyltransferase
GUncertain significance
GAMT
(L166P)
Single nucleotide variant
(missense variant)
Deficiency of guanidinoacetate methyltransferase
GLikely pathogenic
GAMT
(R204fs)
Duplication
(frameshift variant)
Cerebral creatine deficiency syndrome
GUncertain significance
GAMT
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
GAMT
(R105fs)
Insertion
(frameshift variant)
Deficiency of guanidinoacetate methyltransferase
GPathogenic
GAMT
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
GAMT
Single nucleotide variant
(synonymous variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT, LOC130062945
(G61R)
Single nucleotide variant
(missense variant)
Deficiency of guanidinoacetate methyltransferase
GLikely pathogenic
GAMT, LOC130062945
Deletion
(splice donor variant)
Deficiency of guanidinoacetate methyltransferase
GPathogenic
GAMT
(Q97*)
Single nucleotide variant
(nonsense)
Deficiency of guanidinoacetate methyltransferase
+1 more
GPathogenic
GAMT
(A103fs)
Deletion
(frameshift variant)
Cerebral creatine deficiency syndrome
+1 more
GPathogenic/Likely pathogenic
GAMT
(H108fs)
Microsatellite
(frameshift variant)
Deficiency of guanidinoacetate methyltransferase
+1 more
GPathogenic/Likely pathogenic
GAMT
(D119fs)
Duplication
(frameshift variant)
Deficiency of guanidinoacetate methyltransferase
+1 more
GPathogenic/Likely pathogenic
GAMT, LOC130062945
(W20*)
Single nucleotide variant
(nonsense)
Deficiency of guanidinoacetate methyltransferase
+1 more
GPathogenic/Likely pathogenic
GAMT
(E176fs)
Deletion
(frameshift variant)
Deficiency of guanidinoacetate methyltransferase
GLikely pathogenic
GAMT
Single nucleotide variant
(splice donor variant)
Deficiency of guanidinoacetate methyltransferase
+1 more
GLikely pathogenic
GAMT
Duplication
(splice acceptor variant)
Deficiency of guanidinoacetate methyltransferase
GUncertain significance
GAMT
(V165I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
GAMT
(P217Q)
Single nucleotide variant
(missense variant)
Cerebral creatine deficiency syndrome
+1 more
GUncertain significance
GAMT
(H155D)
Single nucleotide variant
(missense variant)
Cerebral creatine deficiency syndrome
+1 more
GUncertain significance
GAMT
(R63W)
Single nucleotide variant
(missense variant)
Cerebral creatine deficiency syndrome
GUncertain significance
GAMT
Single nucleotide variant
(synonymous variant)
Deficiency of guanidinoacetate methyltransferase
GUncertain significance
GAMT
(Q148fs)
Duplication
(frameshift variant)
Cerebral creatine deficiency syndrome
+1 more
GPathogenic
GAMT
Single nucleotide variant
(splice acceptor variant)
Cerebral creatine deficiency syndrome
+1 more
GLikely pathogenic
GAMT
(I187T)
Single nucleotide variant
(missense variant)
Cerebral creatine deficiency syndrome
GUncertain significance
GAMT
(A196T)
Single nucleotide variant
(missense variant)
Cerebral creatine deficiency syndrome
GUncertain significance
GAMT
(A213V)
Single nucleotide variant
(missense variant)
Cerebral creatine deficiency syndrome
GUncertain significance
LOC130062945, GAMT
(I36V)
Single nucleotide variant
(missense variant)
Cerebral creatine deficiency syndrome
GUncertain significance
GAMT
(W174L)
Single nucleotide variant
(missense variant)
Cerebral creatine deficiency syndrome
GUncertain significance
GAMT
(V95I)
Single nucleotide variant
(missense variant)
Cerebral creatine deficiency syndrome
GUncertain significance
GAMT
(G94S)
Single nucleotide variant
(missense variant)
Cerebral creatine deficiency syndrome
GUncertain significance
GAMT
Single nucleotide variant
(intron variant)
Cerebral creatine deficiency syndrome
GUncertain significance
GAMT
(L116R)
Single nucleotide variant
(missense variant)
Cerebral creatine deficiency syndrome
GUncertain significance
GAMT
(Y134*)
Single nucleotide variant
(nonsense)
Deficiency of guanidinoacetate methyltransferase
GPathogenic
GAMT, LOC130062945
(E14G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
GAMT, LOC130062945
(D31fs)
Insertion
(frameshift variant)
Deficiency of guanidinoacetate methyltransferase
GLikely pathogenic
GAMT
(E90K)
Single nucleotide variant
(missense variant)
Deficiency of guanidinoacetate methyltransferase
GUncertain significance
GAMT
Single nucleotide variant
(3 prime UTR variant)
Deficiency of guanidinoacetate methyltransferase
GUncertain significance
GAMT
Single nucleotide variant
(3 prime UTR variant)
Deficiency of guanidinoacetate methyltransferase
GUncertain significance
GAMT
Single nucleotide variant
(synonymous variant)
Deficiency of guanidinoacetate methyltransferase
+1 more
GConflicting classifications of pathogenicity
GAMT, LOC130062945
Single nucleotide variant
Deficiency of guanidinoacetate methyltransferase
GUncertain significance
GAMT
Single nucleotide variant
(3 prime UTR variant)
Deficiency of guanidinoacetate methyltransferase
GUncertain significance
GAMT
Single nucleotide variant
(3 prime UTR variant)
Deficiency of guanidinoacetate methyltransferase
+1 more
GLikely benign
GAMT
Single nucleotide variant
(3 prime UTR variant)
Deficiency of guanidinoacetate methyltransferase
GUncertain significance
GAMT
Single nucleotide variant
(3 prime UTR variant)
Deficiency of guanidinoacetate methyltransferase
GLikely benign
GAMT
(R192L)
Single nucleotide variant
(missense variant +1 more)
Cerebral creatine deficiency syndrome
GUncertain significance
GAMT
Single nucleotide variant
(intron variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT, LOC130062945
(G13fs)
Duplication
(frameshift variant)
Deficiency of guanidinoacetate methyltransferase
GPathogenic
LOC130062945, GAMT
(C16G)
Single nucleotide variant
(missense variant)
Cerebral creatine deficiency syndrome
GUncertain significance
GAMT
(D101fs)
Deletion
(frameshift variant)
Cerebral creatine deficiency syndrome
+1 more
GPathogenic/Likely pathogenic
GAMT
Single nucleotide variant
(splice acceptor variant)
Deficiency of guanidinoacetate methyltransferase
GPathogenic
GAMT
Single nucleotide variant
(splice acceptor variant)
Cerebral creatine deficiency syndrome
+1 more
GPathogenic/Likely pathogenic
GAMT, LOC130062945
(I9fs)
Deletion
(frameshift variant)
GAMT-related condition
+4 more
GPathogenic/Likely pathogenic
GAMT
(W87*)
Single nucleotide variant
(nonsense)
Deficiency of guanidinoacetate methyltransferase
GLikely pathogenic
GAMT
Single nucleotide variant
(splice acceptor variant)
Deficiency of guanidinoacetate methyltransferase
GLikely pathogenic
GAMT
(C169R)
Single nucleotide variant
(missense variant)
Deficiency of guanidinoacetate methyltransferase
GLikely pathogenic
GAMT
(G164fs)
Deletion
(frameshift variant)
Deficiency of guanidinoacetate methyltransferase
GPathogenic
GAMT
(W174*)
Single nucleotide variant
(nonsense)
Cerebral creatine deficiency syndrome
+2 more
GPathogenic
GAMT
Single nucleotide variant
(synonymous variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(synonymous variant)
Deficiency of guanidinoacetate methyltransferase
GLikely benign
GAMT, LOC130062945
Single nucleotide variant
(synonymous variant)
Deficiency of guanidinoacetate methyltransferase
GLikely benign
GAMT, LOC130062945
(Y49fs)
Deletion
(frameshift variant)
Deficiency of guanidinoacetate methyltransferase
GPathogenic
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