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Items: 1 to 100 of 890

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129931453, LOC129931454
+1585 more
Copy number gain
See cases
GPathogenic
ADAMTS4, ADCY10
+775 more
Copy number gain
See cases
GPathogenic
ADAMTS4, ALDH9A1
+371 more
Copy number loss
See cases
GPathogenic
DEDD, F11R
+63 more
Duplication
Paragangliomas 3
+1 more
GUncertain significance
ADAMTS4, APOA2
+58 more
Copy number gain
See cases
GUncertain significance
MPZ, SDHC
Deletion
Charcot-Marie-Tooth disease type 1B
GLikely pathogenic
MPZ, SDHC
(S20F)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, type I
+2 more
GUncertain significance
MPZ, SDHC
Single nucleotide variant
Gastrointestinal stromal tumor
+11 more
GBenign
SDHC
Single nucleotide variant
Hereditary pheochromocytoma-paraganglioma
GLikely benign
SDHC
Single nucleotide variant
not specified
+3 more
GBenign
SDHC
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHC
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GLikely benign
SDHC
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHC
Duplication
Gastrointestinal stromal tumor
+1 more
GUncertain significance
SDHC
Deletion
Gastrointestinal stromal tumor
+1 more
GPathogenic
SDHC
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
SDHC
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
SDHC
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
SDHC
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
SDHC
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
SDHC
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
SDHC
(M1L)
Single nucleotide variant
(missense variant +1 more)
Gastrointestinal stromal tumor
+1 more
GPathogenic
SDHC
(M1L)
Single nucleotide variant
(missense variant +1 more)
Paragangliomas 3
+1 more
GPathogenic
SDHC
(M1V)
Single nucleotide variant
(missense variant +1 more)
Paragangliomas 3
+3 more
GPathogenic
SDHC
(M1T)
Single nucleotide variant
(missense variant +3 more)
Gastrointestinal stromal tumor
+1 more
GPathogenic
SDHC
(M1R)
Single nucleotide variant
(missense variant +1 more)
Paragangliomas 3
+1 more
GLikely pathogenic
SDHC
(M1I)
Single nucleotide variant
(missense variant +1 more)
Gastrointestinal stromal tumor
+1 more
GPathogenic
SDHC
(A2P)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
SDHC
(A2T)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
+2 more
GUncertain significance
SDHC
(A2V)
Single nucleotide variant
(missense variant +2 more)
Gastrointestinal stromal tumor
+2 more
GUncertain significance
SDHC
(A2G)
Single nucleotide variant
(missense variant)
Paragangliomas 3
+2 more
GUncertain significance
SDHC
Single nucleotide variant
(synonymous variant +2 more)
Gastrointestinal stromal tumor
+2 more
GLikely benign
SDHC
Single nucleotide variant
(synonymous variant +2 more)
Hereditary cancer-predisposing syndrome
+2 more
GLikely benign
SDHC
Single nucleotide variant
(synonymous variant +2 more)
Hereditary pheochromocytoma-paraganglioma
+3 more
GLikely benign
SDHC
(A3fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
GPathogenic
SDHC
(A3P)
Single nucleotide variant
(missense variant +2 more)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
SDHC
(A3T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
SDHC
(A3S)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
+4 more
GUncertain significance
SDHC
(A3E)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SDHC
(A3V)
Single nucleotide variant
(missense variant)
not specified
+5 more
GUncertain significance
SDHC
Single nucleotide variant
(synonymous variant +2 more)
Hereditary cancer-predisposing syndrome
GLikely benign
SDHC
Single nucleotide variant
(synonymous variant +2 more)
not specified
+4 more
GLikely benign
SDHC
Single nucleotide variant
(synonymous variant +2 more)
Hereditary cancer-predisposing syndrome
+2 more
GLikely benign
SDHC
(L4V)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
SDHC
(L4Q)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
SDHC
(L4R)
Single nucleotide variant
(missense variant)
Paragangliomas 3
+1 more
GUncertain significance
SDHC
(L4P)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
+3 more
GUncertain significance
SDHC
Single nucleotide variant
(synonymous variant +2 more)
Paragangliomas 3
+1 more
GLikely benign
SDHC
Single nucleotide variant
(synonymous variant +2 more)
not provided
+4 more
GLikely benign
SDHC
(L5M)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
+3 more
GUncertain significance
SDHC
(L5S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
SDHC
(L5F)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
+4 more
GUncertain significance
SDHC
(L6V)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
SDHC
(R7* +1 more)
Duplication
(frameshift variant +1 more)
Gastrointestinal stromal tumor
+2 more
GPathogenic
SDHC
(L6P)
Single nucleotide variant
(missense variant)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
SDHC
Single nucleotide variant
(synonymous variant +2 more)
Paragangliomas 3
+1 more
GLikely benign
SDHC
(S7R)
Single nucleotide variant
(synonymous variant +3 more)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
SDHC
(S7N +1 more)
Single nucleotide variant
(missense variant)
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 pathogenic
SDHC
Single nucleotide variant
(5 prime UTR 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
Single nucleotide variant
(5 prime UTR variant +1 more)
Paragangliomas 3
+1 more
GUncertain significance
SDHC
Deletion
(5 prime UTR variant +1 more)
Paragangliomas 3
+2 more
GUncertain significance
SDHC
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SDHC
Single nucleotide variant
(5 prime UTR variant +1 more)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
SDHC
Single nucleotide variant
(5 prime UTR variant +1 more)
Gastrointestinal stromal tumor
+2 more
GUncertain significance
SDHC
Single nucleotide variant
(5 prime UTR variant +1 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
Single nucleotide variant
(5 prime UTR variant +1 more)
Paragangliomas 3
+1 more
GLikely benign
SDHC
Single nucleotide variant
(5 prime UTR variant +1 more)
Paragangliomas 3
+1 more
GLikely benign
SDHC
Insertion
(5 prime UTR variant +1 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
MPZ, SDHC
Duplication
(5 prime UTR variant +1 more)
Charcot-Marie-Tooth, Intermediate
+9 more
GBenign
SDHC
Insertion
(5 prime UTR variant +1 more)
Gastrointestinal stromal tumor
+1 more
GLikely benign
SDHC
Single nucleotide variant
(5 prime UTR variant +1 more)
Paragangliomas 3
+1 more
GLikely benign
SDHC
Insertion
(5 prime UTR variant +1 more)
not provided
GBenign
SDHC
Single nucleotide variant
(5 prime UTR variant +1 more)
Gastrointestinal stromal tumor
+1 more
GLikely benign
SDHC
Insertion
(5 prime UTR variant +1 more)
Gastrointestinal stromal tumor
+2 more
GLikely benign
SDHC
Single nucleotide variant
(5 prime UTR variant +1 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
Single nucleotide variant
(5 prime UTR variant +1 more)
Paragangliomas 3
+1 more
GUncertain significance
SDHC
Single nucleotide variant
(5 prime UTR variant +1 more)
Gastrointestinal stromal tumor
+1 more
GLikely benign
SDHC
Single nucleotide variant
(5 prime UTR variant +1 more)
Paragangliomas 3
+1 more
GLikely benign
SDHC
Single nucleotide variant
(5 prime UTR variant +1 more)
Paragangliomas 3
+1 more
GLikely benign
SDHC
Single nucleotide variant
(5 prime UTR variant +1 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
Single nucleotide variant
(intron variant +1 more)
Paragangliomas 3
+1 more
GLikely benign
SDHC
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
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)
Gastrointestinal stromal tumor
+1 more
GUncertain significance
SDHC
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
SDHC
Single nucleotide variant
(intron variant)
Gastrointestinal stromal tumor
+1 more
GPathogenic
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
(splice acceptor variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
SDHC
Single nucleotide variant
(intron variant)
not specified
GLikely benign
SDHC
Duplication
(intron variant)
Pheochromocytoma
+3 more
GConflicting classifications of pathogenicity
SDHC
Single nucleotide variant
(intron variant)
Gastrointestinal stromal tumor
+1 more
GLikely benign
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