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Links from MedGen

Items: 1 to 100 of 520

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GAMT
Single nucleotide variant
(intron variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(splice donor variant)
Cerebral creatine deficiency syndrome
GLikely pathogenic
GAMT
(P194R)
Single nucleotide variant
(missense variant +1 more)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(synonymous variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT, LOC130062945
Single nucleotide variant
(intron variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(intron variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(intron variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(intron variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(synonymous variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(intron variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT, LOC130062945
Single nucleotide variant
(synonymous variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(synonymous variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
(V196A)
Single nucleotide variant
(missense variant +1 more)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(intron variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(intron variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Deletion
(intron variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(intron variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(intron variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(intron variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(intron variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(intron variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT, LOC130062945
Single nucleotide variant
(synonymous variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(intron variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(intron variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(synonymous variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(intron variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(synonymous variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(intron variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(intron variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(intron variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(intron variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT, LOC130062945
(Y49fs)
Deletion
(frameshift variant)
Cerebral creatine deficiency syndrome
GPathogenic
GAMT
(W102*)
Single nucleotide variant
(nonsense)
Cerebral creatine deficiency syndrome
GPathogenic
GAMT
(F149fs)
Deletion
(frameshift variant)
Cerebral creatine deficiency syndrome
GPathogenic
GAMT
Single nucleotide variant
(intron variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(synonymous variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT, LOC130062945
Single nucleotide variant
(intron variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT, LOC130062945
Single nucleotide variant
(synonymous variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT, LOC130062945
Single nucleotide variant
(synonymous variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT, LOC130062945
Single nucleotide variant
(synonymous variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(intron variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT, LOC130062945
Single nucleotide variant
(synonymous variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT, LOC130062945
Single nucleotide variant
(intron variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(intron variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(synonymous variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(intron variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(synonymous variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT, LOC130062945
Single nucleotide variant
(synonymous variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(synonymous variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(synonymous variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(intron variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Deletion
(intron variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Deletion
(inframe_deletion)
Cerebral creatine deficiency syndrome
GPathogenic
GAMT
Single nucleotide variant
(intron variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(intron variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
(P194L)
Single nucleotide variant
(missense variant +1 more)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(intron variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(synonymous variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(synonymous variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(intron variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(intron variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Deletion
(intron variant)
Cerebral creatine deficiency syndrome
GBenign
GAMT
Single nucleotide variant
(splice donor variant)
Cerebral creatine deficiency syndrome
GLikely pathogenic
GAMT
Single nucleotide variant
(synonymous variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(synonymous variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(intron variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(synonymous variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(synonymous variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(intron variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
(V78E)
Single nucleotide variant
(missense variant)
Deficiency of guanidinoacetate methyltransferase
GLikely pathogenic
GAMT, LOC130062945
(S17fs)
Deletion
(frameshift variant)
Deficiency of guanidinoacetate methyltransferase
+1 more
GPathogenic/Likely pathogenic
GAMT
(A74P)
Single nucleotide variant
(missense variant)
Deficiency of guanidinoacetate methyltransferase
GLikely pathogenic
CBARP, CIRBP
+20 more
Deletion
Cerebral creatine deficiency syndrome
GPathogenic
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
Single nucleotide variant
(synonymous variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT, LOC130062945
(A52G)
Single nucleotide variant
(missense variant)
Cerebral creatine deficiency syndrome
GUncertain significance
GAMT
Single nucleotide variant
(intron variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT, LOC130062945
(P4S)
Single nucleotide variant
(missense variant)
Cerebral creatine deficiency syndrome
GUncertain significance
GAMT, LOC130062945
(L53R)
Inversion
(missense variant)
Cerebral creatine deficiency syndrome
GUncertain significance
GAMT
Single nucleotide variant
(intron variant)
Cerebral creatine deficiency syndrome
GUncertain significance
GAMT, LOC130062945
Single nucleotide variant
(synonymous variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
(A74V)
Single nucleotide variant
(missense variant)
Cerebral creatine deficiency syndrome
GUncertain significance
GAMT
(V67M)
Single nucleotide variant
(missense variant)
Cerebral creatine deficiency syndrome
GUncertain significance
GAMT
(R100Q)
Single nucleotide variant
(missense variant)
Cerebral creatine deficiency syndrome
+1 more
GConflicting classifications of pathogenicity
GAMT
(R208L)
Single nucleotide variant
(missense variant)
Cerebral creatine deficiency syndrome
GUncertain significance
GAMT, LOC130062945
(G38S)
Single nucleotide variant
(missense variant)
Cerebral creatine deficiency syndrome
GUncertain significance
GAMT
Duplication
(intron variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
(M188T)
Single nucleotide variant
(missense variant)
Cerebral creatine deficiency syndrome
GUncertain significance
GAMT
(R204G)
Single nucleotide variant
(missense variant)
Cerebral creatine deficiency syndrome
GUncertain significance
GAMT, LOC130062945
(H51P)
Single nucleotide variant
(missense variant)
Deficiency of guanidinoacetate methyltransferase
GLikely pathogenic
GAMT
(K235N)
Single nucleotide variant
(missense variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT, LOC130062945
(P40R)
Single nucleotide variant
(missense variant)
Cerebral creatine deficiency syndrome
GUncertain significance
GAMT, LOC130062945
(D28fs)
Duplication
(frameshift variant)
Cerebral creatine deficiency syndrome
GPathogenic
GAMT
Single nucleotide variant
(synonymous variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
Single nucleotide variant
(intron variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT
(E199K)
Single nucleotide variant
(missense variant)
Cerebral creatine deficiency syndrome
GUncertain significance
GAMT, LOC130062945
Single nucleotide variant
(synonymous variant)
Cerebral creatine deficiency syndrome
GLikely benign
GAMT, LOC130062945
(G13C)
Single nucleotide variant
(missense variant)
Cerebral creatine deficiency syndrome
GUncertain significance
GAMT, LOC130062945
(A52S)
Single nucleotide variant
(missense variant)
Cerebral creatine deficiency syndrome
GUncertain significance
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