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Links from MedGen

Items: 1 to 100 of 612

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SDHC
(I109fs +5 more)
Duplication
(frameshift variant +1 more)
Paragangliomas 3
GPathogenic
SDHC
Insertion
(splice acceptor variant +1 more)
Paragangliomas 3
GLikely pathogenic
SDHC
(L103fs +7 more)
Microsatellite
(frameshift variant +2 more)
Paragangliomas 3
GLikely benign
SDHC
(C13R)
Single nucleotide variant
(missense variant +3 more)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
SDHC
Insertion
(inframe_insertion +2 more)
Gastrointestinal stromal tumor
+1 more
GPathogenic
SDHC
Single nucleotide variant
(splice donor variant +1 more)
Gastrointestinal stromal tumor
+1 more
GLikely pathogenic
SDHC
Single nucleotide variant
(synonymous variant +2 more)
Gastrointestinal stromal tumor
+1 more
GLikely benign
SDHC
Single nucleotide variant
(synonymous variant +2 more)
Gastrointestinal stromal tumor
+1 more
GLikely benign
SDHC
(A59T +2 more)
Single nucleotide variant
(missense variant +2 more)
Gastrointestinal stromal tumor
+1 more
GLikely benign
SDHC
Single nucleotide variant
(synonymous variant +2 more)
Gastrointestinal stromal tumor
+1 more
GLikely benign
SDHC
Deletion
(intron variant)
Gastrointestinal stromal tumor
+1 more
GLikely benign
SDHC
Single nucleotide variant
(intron variant)
Gastrointestinal stromal tumor
+1 more
GLikely benign
SDHC
(S126P +10 more)
Single nucleotide variant
(missense variant +1 more)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
SDHC
Single nucleotide variant
(intron variant)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
SDHC
(A58V +7 more)
Single nucleotide variant
(missense variant +2 more)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
SDHC
Single nucleotide variant
(intron variant)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
SDHC
Single nucleotide variant
(synonymous variant +3 more)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
SDHC
Single nucleotide variant
(synonymous variant +2 more)
Gastrointestinal stromal tumor
+1 more
GLikely benign
SDHC
(Q21*)
Single nucleotide variant
(nonsense +3 more)
Gastrointestinal stromal tumor
+1 more
GPathogenic
SDHC
Single nucleotide variant
(synonymous variant +2 more)
Gastrointestinal stromal tumor
+1 more
GLikely benign
SDHC
(C13S)
Single nucleotide variant
(missense variant +3 more)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
SDHC
Single nucleotide variant
(5 prime UTR variant +1 more)
Gastrointestinal stromal tumor
+1 more
GLikely pathogenic
SDHC
Single nucleotide variant
(5 prime UTR variant +1 more)
Gastrointestinal stromal tumor
+1 more
GLikely benign
SDHC
Single nucleotide variant
(intron variant)
Gastrointestinal stromal tumor
+1 more
GLikely benign
SDHC
Duplication
(inframe_insertion +1 more)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
SDHC
(E17K +1 more)
Single nucleotide variant
(missense variant +3 more)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
SDHC
Single nucleotide variant
(synonymous variant +2 more)
Gastrointestinal stromal tumor
+1 more
GLikely benign
SDHC
(A3P)
Single nucleotide variant
(missense variant +2 more)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
SDHC
(Y65F +7 more)
Single nucleotide variant
(missense variant +2 more)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
SDHC
Single nucleotide variant
(synonymous variant +2 more)
Gastrointestinal stromal tumor
+2 more
GLikely benign
SDHC
Single nucleotide variant
(intron variant)
Gastrointestinal stromal tumor
+1 more
GLikely benign
SDHC
Single nucleotide variant
(synonymous variant +2 more)
Gastrointestinal stromal tumor
+1 more
GLikely benign
SDHC
Single nucleotide variant
(5 prime UTR variant +1 more)
Gastrointestinal stromal tumor
+1 more
GLikely benign
SDHC
(L15V +2 more)
Single nucleotide variant
(missense variant +2 more)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
SDHC
(K16N +1 more)
Single nucleotide variant
(missense variant +3 more)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
SDHC
(H77P +7 more)
Single nucleotide variant
(missense variant +2 more)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
SDHC
(A131fs +10 more)
Duplication
(frameshift variant +1 more)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
SDHC
Single nucleotide variant
(5 prime UTR variant +1 more)
Gastrointestinal stromal tumor
+1 more
GLikely benign
SDHC
(M1T)
Single nucleotide variant
(missense variant +3 more)
Gastrointestinal stromal tumor
+1 more
GPathogenic
SDHC
(E20Q +2 more)
Single nucleotide variant
(missense variant +2 more)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
SDHC
(A27V +1 more)
Single nucleotide variant
(missense variant +3 more)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
SDHC
(A74V +2 more)
Single nucleotide variant
(missense variant +2 more)
Gastrointestinal stromal tumor
+1 more
GLikely benign
SDHC
(Q128H +10 more)
Single nucleotide variant
(missense variant +1 more)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
SDHC
Single nucleotide variant
(intron variant)
Gastrointestinal stromal tumor
+1 more
GLikely benign
SDHC
(S114F +7 more)
Single nucleotide variant
(synonymous variant +2 more)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
SDHC
Single nucleotide variant
(intron variant)
Gastrointestinal stromal tumor
+1 more
GLikely benign
SDHC
Single nucleotide variant
(synonymous variant +2 more)
Gastrointestinal stromal tumor
+1 more
GLikely benign
SDHC
Insertion
(5 prime UTR variant +1 more)
Gastrointestinal stromal tumor
+1 more
GLikely benign
SDHC
(S68F +5 more)
Single nucleotide variant
(missense variant +1 more)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
SDHC
(M106I +7 more)
Single nucleotide variant
(missense variant +2 more)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
SDHC
Single nucleotide variant
(synonymous variant +2 more)
Gastrointestinal stromal tumor
+1 more
GLikely benign
SDHC
Deletion
(intron variant)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
SDHC
(A146V +7 more)
Single nucleotide variant
(synonymous variant +2 more)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
SDHC
Deletion
(intron variant)
Gastrointestinal stromal tumor
+1 more
GLikely benign
SDHC
Single nucleotide variant
(intron variant)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
SDHC
(G103E +7 more)
Single nucleotide variant
(synonymous variant +2 more)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
SDHC
Single nucleotide variant
(synonymous variant +2 more)
Gastrointestinal stromal tumor
+1 more
GLikely benign
SDHC
Single nucleotide variant
(intron variant)
Gastrointestinal stromal tumor
+1 more
GLikely benign
SDHC
Single nucleotide variant
(intron variant)
Gastrointestinal stromal tumor
+1 more
GLikely benign
SDHC
Single nucleotide variant
(synonymous variant +2 more)
Hereditary cancer-predisposing syndrome
+2 more
GLikely benign
SDHC
Single nucleotide variant
(intron variant)
Gastrointestinal stromal tumor
+1 more
GLikely benign
SDHC
(R85G +2 more)
Single nucleotide variant
(missense variant +2 more)
Gastrointestinal stromal tumor
+1 more
GLikely benign
SDHC
Single nucleotide variant
(intron variant)
Gastrointestinal stromal tumor
+1 more
GLikely benign
SDHC
(K104E +7 more)
Single nucleotide variant
(missense variant +2 more)
Paragangliomas 3
+1 more
GUncertain significance
SDHC
(P54S +2 more)
Single nucleotide variant
(missense variant +2 more)
SDHC-related disorder
+2 more
GConflicting classifications of pathogenicity
SDHC
(A2V)
Single nucleotide variant
(missense variant +2 more)
Gastrointestinal stromal tumor
+2 more
GUncertain significance
SDHC
(C23Y)
Single nucleotide variant
(missense variant +3 more)
Gastrointestinal stromal tumor
+2 more
GUncertain significance
SDHC
(M132V +10 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
SDHC
(Y22* +2 more)
Single nucleotide variant
(nonsense +2 more)
Paragangliomas 3
+1 more
GPathogenic
SDHC
(E17fs +1 more)
Deletion
(frameshift variant +3 more)
Paragangliomas 3
GPathogenic
SDHC
Single nucleotide variant
(splice acceptor variant)
Paragangliomas 3
GLikely pathogenic
SDHC
(P20S)
Single nucleotide variant
(missense variant +3 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SDHC
(S110C +7 more)
Single nucleotide variant
(synonymous variant +2 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SDHC
(H17fs)
Deletion
(frameshift variant +3 more)
Paragangliomas 3
GPathogenic
SDHC
Single nucleotide variant
(splice donor variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic/Likely pathogenic
SDHC
Single nucleotide variant
(intron variant)
Paragangliomas 3
+1 more
GLikely benign
SDHC
Deletion
Paragangliomas 3
+1 more
GPathogenic
SDHC
Duplication
Paragangliomas 3
+1 more
GLikely pathogenic
SDHC
Deletion
Paragangliomas 3
+1 more
GPathogenic
SDHC
(R25I)
Single nucleotide variant
(missense variant +3 more)
Paragangliomas 3
+1 more
GUncertain significance
SDHC
Single nucleotide variant
(synonymous variant +2 more)
Gastrointestinal stromal tumor
+2 more
GLikely benign
SDHC
Single nucleotide variant
(synonymous variant +3 more)
Gastrointestinal stromal tumor
+1 more
GLikely benign
SDHC
Single nucleotide variant
(synonymous variant +3 more)
Gastrointestinal stromal tumor
+1 more
GLikely benign
SDHC
(L53V +7 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SDHC
Single nucleotide variant
(intron variant)
Gastrointestinal stromal tumor
+1 more
GLikely benign
SDHC
Single nucleotide variant
(5 prime UTR variant +1 more)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
SDHC
(S64N +10 more)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
+3 more
GUncertain significance
SDHC
Single nucleotide variant
(intron variant)
Gastrointestinal stromal tumor
+1 more
GLikely benign
SDHC
Single nucleotide variant
(intron variant)
Gastrointestinal stromal tumor
+1 more
GLikely benign
SDHC
Single nucleotide variant
(intron variant)
Gastrointestinal stromal tumor
+1 more
GLikely benign
SDHC
Single nucleotide variant
(intron variant)
Gastrointestinal stromal tumor
+1 more
GLikely benign
SDHC
Single nucleotide variant
(intron variant)
Hereditary pheochromocytoma-paraganglioma
+2 more
GLikely benign
SDHC
Single nucleotide variant
(intron variant)
Gastrointestinal stromal tumor
+1 more
GLikely benign
SDHC
(E60D +7 more)
Single nucleotide variant
(missense variant +2 more)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
SDHC
Single nucleotide variant
(synonymous variant +1 more)
Gastrointestinal stromal tumor
+1 more
GLikely benign
SDHC
Single nucleotide variant
(splice acceptor variant)
Paragangliomas 3
+1 more
GUncertain significance
SDHC
Single nucleotide variant
(synonymous variant +2 more)
Paragangliomas 3
+1 more
GLikely benign
SDHC
(I27T +2 more)
Single nucleotide variant
(missense variant +2 more)
Paragangliomas 3
+1 more
GUncertain significance
SDHC
Single nucleotide variant
(5 prime UTR variant +1 more)
Paragangliomas 3
+1 more
GUncertain significance
SDHC
Single nucleotide variant
(intron variant)
Paragangliomas 3
+1 more
GLikely benign
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