U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 126

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAMTS4, ADCY10
+775 more
Copy number gain
See cases
GPathogenic
MPZ, SDHC
Single nucleotide variant
Carney-Stratakis syndrome
+11 more
GBenign
SDHC
Single nucleotide variant
Paragangliomas 3
+3 more
GBenign
SDHC
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
SDHC
(M1V)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic
SDHC
(M1I)
Single nucleotide variant
(missense variant +1 more)
Paragangliomas 3
+2 more
GPathogenic
SDHC
(A3T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
SDHC
(A3S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
SDHC
(A3V)
Single nucleotide variant
(missense variant)
Paragangliomas 3
+5 more
GUncertain significance
SDHC
(L4P)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
SDHC
(L5M)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
+3 more
GUncertain significance
SDHC
(L5S)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
SDHC
(L5F)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
SDHC
(R7* +1 more)
Duplication
(frameshift variant +1 more)
not provided
+2 more
GPathogenic
SDHC
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
MPZ, SDHC
Duplication
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth, Intermediate
+9 more
GBenign
SDHC
Insertion
(5 prime UTR variant +1 more)
not provided
GBenign
SDHC
Insertion
(5 prime UTR variant +1 more)
not specified
+2 more
GLikely benign
SDHC
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
SDHC
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
SDHC
Single nucleotide variant
(intron variant)
not provided
GBenign
SDHC
Single nucleotide variant
(intron variant)
not provided
GBenign
SDHC
Single nucleotide variant
(intron variant)
not provided
GBenign
SDHC
Duplication
(intron variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
SDHC
(V9I)
Single nucleotide variant
(missense variant +3 more)
Paragangliomas 3
+3 more
GUncertain significance
SDHC
(G10A)
Single nucleotide variant
(missense variant +3 more)
Paragangliomas 3
+2 more
GUncertain significance
SDHC
(R11H)
Single nucleotide variant
(missense variant +3 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
SDHC
(R11L)
Single nucleotide variant
(missense variant +3 more)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
SDHC
(L14F)
Single nucleotide variant
(missense variant +3 more)
not specified
+5 more
GUncertain significance
SDHC
Single nucleotide variant
(synonymous variant +3 more)
Gastrointestinal stromal tumor
+4 more
GConflicting classifications of pathogenicity
SDHC
(R15G)
Single nucleotide variant
(intron variant +3 more)
Gastrointestinal stromal tumor
+3 more
GUncertain significance
SDHC
(R15*)
Single nucleotide variant
(nonsense +3 more)
Hereditary pheochromocytoma-paraganglioma
+4 more
GPathogenic
SDHC
Single nucleotide variant
(synonymous variant +3 more)
not specified
+4 more
GLikely benign
SDHC
(S19I)
Single nucleotide variant
(missense variant +3 more)
not provided
GUncertain significance
SDHC
(P20R)
Single nucleotide variant
(missense variant +3 more)
not provided
+1 more
GUncertain significance
SDHC
(Q21E)
Single nucleotide variant
(missense variant +3 more)
Hereditary pheochromocytoma-paraganglioma
+4 more
GUncertain significance
SDHC
(L22F)
Single nucleotide variant
(missense variant +3 more)
not provided
+3 more
GUncertain significance
SDHC
Insertion
(intron variant)
not provided
GBenign
SDHC
Deletion
(intron variant)
not provided
GBenign
SDHC
Duplication
(intron variant)
not provided
GLikely benign
SDHC
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
SDHC
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
SDHC
Single nucleotide variant
(intron variant)
not provided
GBenign
SDHC
Single nucleotide variant
(intron variant)
not provided
GBenign
SDHC
Single nucleotide variant
(intron variant)
not provided
GBenign
SDHC
Single nucleotide variant
(intron variant)
not provided
GBenign
SDHC
Single nucleotide variant
(intron variant)
not provided
GBenign
SDHC
Single nucleotide variant
(intron variant)
not provided
GBenign
SDHC
Single nucleotide variant
(intron variant)
not provided
GBenign
SDHC
Single nucleotide variant
(intron variant)
not provided
GBenign
SDHC
Single nucleotide variant
(intron variant)
not provided
GBenign
SDHC
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SDHC
Single nucleotide variant
(intron variant)
Paragangliomas 3
+2 more
GLikely benign
SDHC
Single nucleotide variant
(splice acceptor variant +1 more)
not provided
+2 more
GLikely pathogenic
SDHC
(V28L +1 more)
Single nucleotide variant
(missense variant +3 more)
not provided
+2 more
GUncertain significance
SDHC
(P29A +1 more)
Single nucleotide variant
(missense variant +3 more)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
SDHC
(T33K +1 more)
Single nucleotide variant
(missense variant +3 more)
not provided
+2 more
GUncertain significance
SDHC
(T33M +1 more)
Single nucleotide variant
(missense variant +3 more)
Gastrointestinal stromal tumor
+5 more
GUncertain significance
SDHC
Single nucleotide variant
(synonymous variant +3 more)
not provided
+4 more
GConflicting classifications of pathogenicity
SDHC
(R40W +2 more)
Single nucleotide variant
(missense variant +2 more)
Gastrointestinal stromal tumor
+4 more
GUncertain significance
SDHC
(R40Q +2 more)
Single nucleotide variant
(missense variant +2 more)
Paragangliomas 3
+3 more
GUncertain significance
SDHC
Single nucleotide variant
(synonymous variant +2 more)
Paragangliomas 3
+5 more
GBenign/Likely benign
SDHC
(I46V +2 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
SDHC
(R50C +2 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
SDHC
(P54T +2 more)
Single nucleotide variant
(missense variant +2 more)
Gastrointestinal stromal tumor
+3 more
GConflicting classifications of pathogenicity
SDHC
(H55R +2 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
SDHC
(I56L +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GUncertain significance
SDHC
Single nucleotide variant
(splice donor variant +1 more)
Paragangliomas 3
+4 more
GLikely pathogenic
SDHC
Single nucleotide variant
(intron variant)
not provided
GBenign
SDHC
Deletion
(intron variant)
not provided
GBenign
SDHC
Deletion
(intron variant)
not provided
GBenign
SDHC
Insertion
(intron variant)
not provided
GBenign
SDHC
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SDHC
Single nucleotide variant
(intron variant)
not provided
GBenign
SDHC
Single nucleotide variant
(intron variant)
Paragangliomas 3
+2 more
GUncertain significance
SDHC
(R19C +5 more)
Single nucleotide variant
(missense variant)
Paragangliomas 3
+3 more
GConflicting classifications of pathogenicity
SDHC
(R72H +5 more)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
+4 more
GConflicting classifications of pathogenicity
SDHC
(T74A +5 more)
Single nucleotide variant
(missense variant)
Hereditary pheochromocytoma-paraganglioma
+5 more
GUncertain significance
SDHC
(T74I +5 more)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
+3 more
GUncertain significance
SDHC
Single nucleotide variant
(intron variant)
not provided
GBenign
SDHC
Single nucleotide variant
(intron variant)
not provided
GBenign
SDHC
Single nucleotide variant
(intron variant)
not provided
GBenign
SDHC
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SDHC
Single nucleotide variant
(intron variant)
not provided
GBenign
SDHC
Single nucleotide variant
(intron variant)
not provided
GBenign
SDHC
Single nucleotide variant
(intron variant)
not provided
GBenign
SDHC
Single nucleotide variant
(intron variant)
Paragangliomas 3
+2 more
GUncertain significance
SDHC
(G47V +7 more)
Single nucleotide variant
(missense variant +2 more)
Gastrointestinal stromal tumor
+3 more
GUncertain significance
SDHC
(M34L +7 more)
Single nucleotide variant
(missense variant +2 more)
Gastrointestinal stromal tumor
+4 more
GConflicting classifications of pathogenicity
SDHC
(S88L +7 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
SDHC
(S98A +7 more)
Single nucleotide variant
(missense variant +2 more)
Gastrointestinal stromal tumor
+4 more
GUncertain significance
SDHC
(Y99H +7 more)
Single nucleotide variant
(missense variant +2 more)
Paragangliomas 3
+4 more
GConflicting classifications of pathogenicity
SDHC
(P110L +7 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GUncertain significance
SDHC
Single nucleotide variant
(synonymous variant +2 more)
Paragangliomas 3
+3 more
GConflicting classifications of pathogenicity
SDHC
Single nucleotide variant
(synonymous variant +2 more)
Hereditary cancer-predisposing syndrome
+4 more
GBenign/Likely benign
SDHC
(K83R +7 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+3 more
GUncertain significance
SDHC
Single nucleotide variant
(synonymous variant +2 more)
not specified
+4 more
GBenign/Likely benign
SDHC
(P89S +7 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+4 more
GUncertain significance
SDHC
Single nucleotide variant
(synonymous variant +2 more)
Hereditary pheochromocytoma-paraganglioma
+4 more
GConflicting classifications of pathogenicity
SDHC
(Y126C +7 more)
Single nucleotide variant
(missense variant +2 more)
Gastrointestinal stromal tumor
+4 more
GPathogenic/Likely pathogenic
Format
Items per page
Sort by
Choose Destination