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Items: 49

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CBS
Single nucleotide variant
(3 prime UTR variant)
not specified
+1 more
GBenign
CBS
(G532R +1 more)
Single nucleotide variant
(missense variant)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
+2 more
GUncertain significance
CBS
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CBS
(A509V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CBS
(S395fs +1 more)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic
CBS
Single nucleotide variant
(intron variant)
not specified
GBenign
CBS
(D444N +1 more)
Single nucleotide variant
(missense variant)
Homocystinuria
+4 more
GPathogenic/Likely pathogenic
CBS
(R439Q +1 more)
Single nucleotide variant
(missense variant)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
+4 more
GConflicting classifications of pathogenicity
CBS
(V425M +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CBS
Single nucleotide variant
(synonymous variant)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
+4 more
GConflicting classifications of pathogenicity
CBS
Single nucleotide variant
(splice acceptor variant)
CBS-related condition
+5 more
GPathogenic
CBS
(K406fs +1 more)
Deletion
(frameshift variant)
Classic homocystinuria
+2 more
GPathogenic/Likely pathogenic
CBS
(T403M +1 more)
Single nucleotide variant
(missense variant)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
+2 more
GUncertain significance
CBS
(R389T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CBS
Single nucleotide variant
(intron variant)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
+3 more
GBenign/Likely benign
CBS
(R369C +1 more)
Single nucleotide variant
(missense variant)
Connective tissue disorder
+6 more
GConflicting classifications of pathogenicity
CBS
Single nucleotide variant
(synonymous variant)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
+4 more
GBenign
CBS
(V358M +1 more)
Single nucleotide variant
(missense variant)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
+3 more
GConflicting classifications of pathogenicity
CBS
(A355V +1 more)
Single nucleotide variant
(missense variant)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
+1 more
GConflicting classifications of pathogenicity
CBS
(T353M +1 more)
Single nucleotide variant
(missense variant)
Homocystinuria
+4 more
GPathogenic/Likely pathogenic
CBS
(R336C +1 more)
Single nucleotide variant
(missense variant)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
+4 more
GPathogenic
CBS
Single nucleotide variant
(synonymous variant)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
+2 more
GConflicting classifications of pathogenicity
CBS
(A331V +1 more)
Single nucleotide variant
(missense variant)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
+2 more
GConflicting classifications of pathogenicity
CBS
(W323* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
CBS
Single nucleotide variant
(intron variant)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
+2 more
GConflicting classifications of pathogenicity
CBS
Single nucleotide variant
(synonymous variant)
CBS-related condition
+5 more
GBenign/Likely benign
CBS
(G307S +1 more)
Single nucleotide variant
(missense variant)
CBS-related condition
+5 more
GPathogenic
CBS
(E302K +1 more)
Single nucleotide variant
(missense variant)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
+3 more
GConflicting classifications of pathogenicity
CBS
(I286V +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CBS
Insertion
(nonsense +1 more)
not specified
GBenign
CBS
(I278T +1 more)
Single nucleotide variant
(missense variant)
Homocystinuria
+6 more
GPathogenic
CBS
Single nucleotide variant
(intron variant)
not specified
GBenign
CBS
(T262M +1 more)
Single nucleotide variant
(missense variant)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
+3 more
GPathogenic/Likely pathogenic
CBS
Single nucleotide variant
(synonymous variant)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
+5 more
GBenign
CBS
(R224C +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
CBS
Single nucleotide variant
(synonymous variant)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
+5 more
GBenign/Likely benign
CBS
Deletion
(inframe_deletion)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CBS
Single nucleotide variant
(intron variant)
not specified
GBenign
CBS
(V168M +1 more)
Single nucleotide variant
(missense variant)
Homocystinuria
+4 more
GConflicting classifications of pathogenicity
CBS
Single nucleotide variant
(synonymous variant)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
+2 more
GConflicting classifications of pathogenicity
CBS
(E144K +1 more)
Single nucleotide variant
(missense variant)
CBS-related condition
+4 more
GPathogenic/Likely pathogenic
CBS
(R132C +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
CBS
(R125Q +1 more)
Single nucleotide variant
(missense variant)
Homocystinuria
+3 more
GPathogenic
CBS
(C109R +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GPathogenic
CBS
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
CBS
(K102Q)
Single nucleotide variant
(missense variant)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
+5 more
GBenign/Likely benign
CBS
(R18C)
Single nucleotide variant
(missense variant)
Classic homocystinuria
+4 more
GBenign/Likely benign
CBS
(V10fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
CBS
(M1T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
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