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Links from MedGen

Items: 1 to 100 of 372

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CBS
(K380R +1 more)
Single nucleotide variant
(missense variant)
Classic homocystinuria
GUncertain significance
CBS
(G348R +1 more)
Single nucleotide variant
(missense variant)
Classic homocystinuria
GLikely pathogenic
CBS
(R161G +1 more)
Single nucleotide variant
(missense variant)
Classic homocystinuria
GLikely pathogenic
CBS
Single nucleotide variant
(splice acceptor variant)
Classic homocystinuria
GLikely pathogenic
CBS
(S221fs +1 more)
Deletion
(frameshift variant)
Classic homocystinuria
GLikely pathogenic
CBS
Single nucleotide variant
(splice donor variant)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
+1 more
GPathogenic/Likely pathogenic
CBS
(H127D +1 more)
Single nucleotide variant
(missense variant)
Classic homocystinuria
GPathogenic
CBS
(E192* +1 more)
Single nucleotide variant
(nonsense)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
+1 more
GPathogenic/Likely pathogenic
CBS
(E335* +1 more)
Single nucleotide variant
(nonsense)
Classic homocystinuria
GLikely pathogenic
CBS
(N194fs +1 more)
Deletion
(frameshift variant)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
+1 more
GPathogenic/Likely pathogenic
CBS
(K108fs +1 more)
Deletion
(frameshift variant)
Classic homocystinuria
GLikely pathogenic
CBS
Deletion
(splice donor variant)
Classic homocystinuria
GLikely pathogenic
CBS
(V118fs +1 more)
Deletion
(frameshift variant)
Classic homocystinuria
GLikely pathogenic
CBS
(S315* +1 more)
Single nucleotide variant
(nonsense)
Classic homocystinuria
GLikely pathogenic
CBS
Single nucleotide variant
(splice acceptor variant)
Classic homocystinuria
GLikely pathogenic
CBS
Single nucleotide variant
(splice donor variant)
Classic homocystinuria
GLikely pathogenic
CBS
(Q381* +1 more)
Single nucleotide variant
(nonsense)
Classic homocystinuria
GLikely pathogenic
CBS
(A71fs)
Duplication
(frameshift variant)
Classic homocystinuria
GPathogenic
CBS
(L136P +1 more)
Single nucleotide variant
(missense variant)
Classic homocystinuria
GLikely pathogenic
CBS
Single nucleotide variant
(splice donor variant)
Classic homocystinuria
GLikely pathogenic
CBS
(G200R +1 more)
Single nucleotide variant
(missense variant)
Classic homocystinuria
GPathogenic
CBS
(Q138* +1 more)
Single nucleotide variant
(nonsense)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
+1 more
GPathogenic
CBS
Single nucleotide variant
(splice donor variant)
Classic homocystinuria
GLikely pathogenic
CBS
(L125Q +1 more)
Single nucleotide variant
(missense variant)
Classic homocystinuria
GLikely pathogenic
CBS
Single nucleotide variant
(5 prime UTR variant +1 more)
Classic homocystinuria
GLikely benign
CBS
(C241R +1 more)
Single nucleotide variant
(missense variant)
Classic homocystinuria
GLikely pathogenic
CBS
(G151V +1 more)
Single nucleotide variant
(missense variant)
Classic homocystinuria
GLikely pathogenic
CBS
(P78R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CBS
(W304fs +1 more)
Deletion
(frameshift variant)
Classic homocystinuria
GPathogenic
CBS
(R317G +1 more)
Single nucleotide variant
(missense variant)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
+1 more
GPathogenic/Likely pathogenic
CBS
Microsatellite
(nonsense)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
+1 more
GPathogenic/Likely pathogenic
CBS
(P88A)
Single nucleotide variant
(missense variant)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
+1 more
GConflicting classifications of pathogenicity
CBS
(P70R)
Single nucleotide variant
(missense variant)
Classic homocystinuria
+1 more
GUncertain significance
CBS
(V168fs +1 more)
Deletion
(frameshift variant)
Classic homocystinuria
GLikely pathogenic
CBS
(S73fs)
Deletion
(frameshift variant)
Classic homocystinuria
GLikely pathogenic
CBS
(H203fs +1 more)
Duplication
(frameshift variant)
Classic homocystinuria
GLikely pathogenic
CBS
(S32fs)
Indel
(frameshift variant)
Classic homocystinuria
GLikely pathogenic
CBS
(K289fs +1 more)
Deletion
(frameshift variant)
Classic homocystinuria
GLikely pathogenic
CBS
(K254* +1 more)
Single nucleotide variant
(nonsense)
Classic homocystinuria
GLikely pathogenic
CBS
(R196fs +1 more)
Deletion
(frameshift variant)
Classic homocystinuria
GLikely pathogenic
CBS
(T325fs +1 more)
Deletion
(frameshift variant)
Classic homocystinuria
GLikely pathogenic
CBS
(V147M +1 more)
Single nucleotide variant
(missense variant)
Classic homocystinuria
GUncertain significance
CBS
Single nucleotide variant
(intron variant)
Classic homocystinuria
+1 more
GConflicting classifications of pathogenicity
CBS
(A256T +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CBS
Single nucleotide variant
(splice acceptor variant)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
+1 more
GPathogenic/Likely pathogenic
CBS
(R161fs +1 more)
Deletion
(frameshift variant)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
+1 more
GPathogenic/Likely pathogenic
CBS
(E165del +1 more)
Deletion
(inframe_deletion)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
+1 more
GConflicting classifications of pathogenicity
CBS
Single nucleotide variant
(splice acceptor variant)
Classic homocystinuria
GPathogenic
CBS
(A121P +1 more)
Single nucleotide variant
(missense variant)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
+2 more
GUncertain significance
CBS
(S395L +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
CBS
(E294K +1 more)
Single nucleotide variant
(missense variant)
Classic homocystinuria
GUncertain significance
CBS
(R443W +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CBS
(V343fs +1 more)
Deletion
(frameshift variant)
Classic homocystinuria
GLikely pathogenic
CBS
Single nucleotide variant
(synonymous variant)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
GLikely benign
CBS
Single nucleotide variant
(synonymous variant)
Classic homocystinuria
+1 more
GConflicting classifications of pathogenicity
CBS
Deletion
Classic homocystinuria
+1 more
GPathogenic
CBS
(P33fs)
Deletion
(frameshift variant)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
+1 more
GPathogenic/Likely pathogenic
CBS
(S361* +1 more)
Single nucleotide variant
(nonsense)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
+1 more
GPathogenic
CBS
(P88S)
Single nucleotide variant
(missense variant)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
+1 more
GPathogenic/Likely pathogenic
CBS
(I127M +1 more)
Single nucleotide variant
(missense variant)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
GUncertain significance
CBS
(R231P +1 more)
Single nucleotide variant
(missense variant)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
+1 more
GLikely pathogenic
CBS
(D120G +1 more)
Single nucleotide variant
(missense variant)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
GLikely pathogenic
CBS
(R119L +1 more)
Single nucleotide variant
(missense variant)
Classic homocystinuria
+1 more
GUncertain significance
CBS
(A60V)
Single nucleotide variant
(missense variant)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
GUncertain significance
CBS
(G57D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CBS
(K142N +1 more)
Single nucleotide variant
(missense variant)
Classic homocystinuria
GUncertain significance
CBS
(V150L +1 more)
Single nucleotide variant
(missense variant)
Classic homocystinuria
GUncertain significance
CBS
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
CBS
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
CBS
(T388M +1 more)
Single nucleotide variant
(missense variant)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
GUncertain significance
CBS
(E144* +1 more)
Single nucleotide variant
(nonsense)
Classic homocystinuria
GLikely pathogenic
CBS
(K177* +1 more)
Single nucleotide variant
(nonsense)
Classic homocystinuria
GLikely pathogenic
CBS
(E108* +1 more)
Single nucleotide variant
(nonsense)
Classic homocystinuria
GLikely pathogenic
CBS
(E134* +1 more)
Single nucleotide variant
(nonsense)
Classic homocystinuria
GLikely pathogenic
CBS
(E299* +1 more)
Single nucleotide variant
(nonsense)
Classic homocystinuria
GLikely pathogenic
CBS
(V209A +1 more)
Single nucleotide variant
(missense variant)
Classic homocystinuria
GPathogenic
CBS
(K211R +1 more)
Single nucleotide variant
(missense variant)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
GUncertain significance
CBS
(R422Q +1 more)
Single nucleotide variant
(missense variant)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
GUncertain significance
CBS
(I38M +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
CBS
Single nucleotide variant
(intron variant)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
GUncertain significance
CBS
(A288S +1 more)
Single nucleotide variant
(missense variant)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
GUncertain significance
CBS
(N123K +1 more)
Single nucleotide variant
(missense variant)
Classic homocystinuria
+2 more
GPathogenic
CBS
Single nucleotide variant
(3 prime UTR variant +1 more)
Classic homocystinuria
GUncertain significance
CBS
(T191R +1 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
CBS
Single nucleotide variant
(synonymous variant)
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
+2 more
GConflicting classifications of pathogenicity
CBS
Single nucleotide variant
(3 prime UTR variant +1 more)
Classic homocystinuria
GUncertain significance
CBS
Single nucleotide variant
(3 prime UTR variant +1 more)
Classic homocystinuria
GUncertain significance
CBS
Single nucleotide variant
(3 prime UTR variant)
Classic homocystinuria
GUncertain significance
CBS
Single nucleotide variant
(3 prime UTR variant)
Classic homocystinuria
GUncertain significance
CBS
Single nucleotide variant
(3 prime UTR variant)
Classic homocystinuria
GUncertain significance
CBS
Single nucleotide variant
(intron variant)
Classic homocystinuria
+1 more
GConflicting classifications of pathogenicity
CBS
Single nucleotide variant
(3 prime UTR variant)
Classic homocystinuria
GUncertain significance
CBS
Single nucleotide variant
(3 prime UTR variant)
Classic homocystinuria
GUncertain significance
CBS
Single nucleotide variant
(3 prime UTR variant)
Classic homocystinuria
GUncertain significance
CBS
Single nucleotide variant
(intron variant)
Classic homocystinuria
GUncertain significance
CBS
Single nucleotide variant
(5 prime UTR variant)
Classic homocystinuria
GUncertain significance
CBS
(S12C +1 more)
Single nucleotide variant
(missense variant)
Classic homocystinuria
GUncertain significance
CBS
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
CBS
(A24V)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
CBS
(G151R +1 more)
Single nucleotide variant
(missense variant)
CBS-related condition
+5 more
GPathogenic
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