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Items: 1 to 100 of 799

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AASDHPPT, ABCG4
+1199 more
Copy number gain
See cases
GPathogenic
ALG9, BCO2
+45 more
Copy number gain
See cases
GUncertain significance
LOC126861339, SDHD
Deletion
Paragangliomas 1
+1 more
GPathogenic
LOC126861339, SDHD
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
LOC126861339, SDHD
Deletion
Carney-Stratakis syndrome
+4 more
GPathogenic
LOC126861339, SDHD
Duplication
Paragangliomas 1
+3 more
GUncertain significance
LOC126861339, SDHD
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary pheochromocytoma-paraganglioma
GLikely benign
LOC126861339, SDHD
Single nucleotide variant
(5 prime UTR variant +1 more)
SDHD-related disorder
GLikely benign
LOC126861339, SDHD
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
LOC126861339, SDHD
Single nucleotide variant
(5 prime UTR variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
LOC126861339, SDHD
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+2 more
GUncertain significance
LOC126861339, SDHD
(M1L)
Single nucleotide variant
(missense variant +2 more)
Carney-Stratakis syndrome
+5 more
GPathogenic
LOC126861339, SDHD
(M1V)
Single nucleotide variant
(missense variant +2 more)
Paragangliomas with sensorineural hearing loss
+3 more
GPathogenic
LOC126861339, SDHD
(M1T)
Single nucleotide variant
(missense variant +2 more)
Cowden syndrome 3
+3 more
GPathogenic
LOC126861339, SDHD
(M1I)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic
LOC126861339, SDHD
(M1I)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic
LOC126861339, SDHD
(A2T)
Single nucleotide variant
(missense variant +1 more)
Paragangliomas with sensorineural hearing loss
+3 more
GUncertain significance
LOC126861339, SDHD
(A2E)
Single nucleotide variant
(missense variant +1 more)
Hereditary pheochromocytoma-paraganglioma
GUncertain significance
LOC126861339, SDHD
(A2V)
Single nucleotide variant
(missense variant +1 more)
Cowden syndrome 3
+4 more
GUncertain significance
LOC126861339, SDHD
(A2G)
Single nucleotide variant
(missense variant +1 more)
Paragangliomas with sensorineural hearing loss
+3 more
GUncertain significance
LOC126861339, SDHD
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
LOC126861339, SDHD
Single nucleotide variant
(synonymous variant +1 more)
Pheochromocytoma
+3 more
GLikely benign
LOC126861339, SDHD
(V3L)
Single nucleotide variant
(missense variant +1 more)
Pheochromocytoma
+3 more
GUncertain significance
LOC126861339, SDHD
(V3I)
Single nucleotide variant
(missense variant +1 more)
Paragangliomas with sensorineural hearing loss
+3 more
GUncertain significance
LOC126861339, SDHD
(V3F)
Single nucleotide variant
(missense variant +1 more)
Pheochromocytoma
+3 more
GUncertain significance
LOC126861339, SDHD
(V3A)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
LOC126861339, SDHD
(W5fs)
Microsatellite
(frameshift variant +1 more)
not provided
GLikely pathogenic
LOC126861339, SDHD
Single nucleotide variant
(synonymous variant +1 more)
Pheochromocytoma
+3 more
GLikely benign
LOC126861339, SDHD
(L4fs)
Duplication
(frameshift variant +1 more)
Cowden syndrome 3
+4 more
GPathogenic
LOC126861339, SDHD
(L4I)
Single nucleotide variant
(missense variant +1 more)
Carney-Stratakis syndrome
+3 more
GUncertain significance
LOC126861339, SDHD
(L4V)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
LOC126861339, SDHD
(L4F)
Single nucleotide variant
(missense variant +1 more)
Cowden syndrome 3
+4 more
GUncertain significance
LOC126861339, SDHD
Single nucleotide variant
(synonymous variant +1 more)
Carney-Stratakis syndrome
+3 more
GLikely benign
LOC126861339, SDHD
(W5fs)
Deletion
(frameshift variant +1 more)
Cowden syndrome 3
+3 more
GPathogenic
LOC126861339, SDHD
(W5R)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
LOC126861339, SDHD
(W5fs)
Deletion
(frameshift variant +1 more)
Carney-Stratakis syndrome
+5 more
GPathogenic
LOC126861339, SDHD
(W5R)
Single nucleotide variant
(missense variant +1 more)
Pheochromocytoma
+4 more
GUncertain significance
LOC126861339, SDHD
(W5*)
Single nucleotide variant
(nonsense +1 more)
Paragangliomas with sensorineural hearing loss
+4 more
GPathogenic
LOC126861339, SDHD
(W5*)
Single nucleotide variant
(nonsense +1 more)
Paragangliomas with sensorineural hearing loss
+3 more
GPathogenic
LOC126861339, SDHD
(R6G)
Single nucleotide variant
(missense variant +1 more)
Carney-Stratakis syndrome
+3 more
GUncertain significance
LOC126861339, SDHD
(R6K)
Single nucleotide variant
(missense variant +1 more)
Pheochromocytoma
+4 more
GUncertain significance
LOC126861339, SDHD
(L7fs)
Deletion
(frameshift variant +1 more)
Carney-Stratakis syndrome
+4 more
GPathogenic/Likely pathogenic
LOC126861339, SDHD
(R6S)
Single nucleotide variant
(missense variant +1 more)
Hereditary pheochromocytoma-paraganglioma
+5 more
GUncertain significance
LOC126861339, SDHD
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+7 more
GLikely benign
LOC126861339, SDHD
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GLikely benign
LOC126861339, SDHD
(L7P)
Single nucleotide variant
(missense variant +1 more)
Cowden syndrome 3
+3 more
GUncertain significance
LOC126861339, SDHD
(L7Q)
Single nucleotide variant
(missense variant +1 more)
Carney-Stratakis syndrome
+3 more
GUncertain significance
LOC126861339, SDHD
(L7R)
Single nucleotide variant
(missense variant +1 more)
Cowden syndrome 3
+3 more
GUncertain significance
LOC126861339, SDHD
Single nucleotide variant
(synonymous variant +1 more)
Carney-Stratakis syndrome
+3 more
GLikely benign
LOC126861339, SDHD
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
LOC126861339, SDHD
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GLikely benign
LOC126861339, SDHD
(S8R)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
LOC126861339, SDHD
(S8G)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
LOC126861339, SDHD
(S8N)
Single nucleotide variant
(missense variant +1 more)
Pheochromocytoma
+4 more
GUncertain significance
LOC126861339, SDHD
(A9T)
Single nucleotide variant
(missense variant +1 more)
Paragangliomas with sensorineural hearing loss
+4 more
GUncertain significance
LOC126861339, SDHD
(A9S)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
LOC126861339, SDHD
(A9V)
Single nucleotide variant
(missense variant +1 more)
Paragangliomas with sensorineural hearing loss
+4 more
GUncertain significance
LOC126861339, SDHD
(A9G)
Single nucleotide variant
(missense variant +1 more)
Paragangliomas with sensorineural hearing loss
+3 more
GUncertain significance
LOC126861339, SDHD
Single nucleotide variant
(synonymous variant +1 more)
Cowden syndrome 3
+3 more
GLikely benign
LOC126861339, SDHD
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GLikely benign
LOC126861339, SDHD
Single nucleotide variant
(synonymous variant +1 more)
Pheochromocytoma
+3 more
GLikely benign
LOC126861339, SDHD
(V10L)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GLikely benign
LOC126861339, SDHD
(V10I)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex 2 deficiency, nuclear type 3
+5 more
GUncertain significance
LOC126861339, SDHD
Single nucleotide variant
(synonymous variant +1 more)
Carney-Stratakis syndrome
+5 more
GLikely benign
LOC126861339, SDHD
(C11*)
Single nucleotide variant
(nonsense +1 more)
Paragangliomas with sensorineural hearing loss
+5 more
GPathogenic
LOC126861339, SDHD
(G12R)
Single nucleotide variant
(missense variant +1 more)
Cowden syndrome 3
+3 more
GUncertain significance
LOC126861339, SDHD
(G12S)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+8 more
GConflicting classifications of pathogenicity
LOC126861339, SDHD
(G12V)
Single nucleotide variant
(missense variant +1 more)
Pheochromocytoma
+3 more
GUncertain significance
LOC126861339, SDHD
(G12D)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+5 more
GUncertain significance
LOC126861339, SDHD
Single nucleotide variant
(synonymous variant +1 more)
Carney-Stratakis syndrome
+3 more
GLikely benign
LOC126861339, SDHD
(A13S)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+6 more
GUncertain significance
LOC126861339, SDHD
(A13T)
Single nucleotide variant
(missense variant +1 more)
Paragangliomas with sensorineural hearing loss
+3 more
GUncertain significance
LOC126861339, SDHD
(A13G)
Single nucleotide variant
(missense variant +1 more)
Cowden syndrome 3
+3 more
GUncertain significance
LOC126861339, SDHD
(A13V)
Single nucleotide variant
(missense variant +1 more)
Hereditary pheochromocytoma-paraganglioma
+5 more
GUncertain significance
LOC126861339, SDHD
Single nucleotide variant
(synonymous variant +1 more)
Hereditary pheochromocytoma-paraganglioma
+5 more
GLikely benign
LOC126861339, SDHD
Single nucleotide variant
(synonymous variant +1 more)
Pheochromocytoma
+4 more
GLikely benign
LOC126861339, SDHD
(L14P)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
LOC126861339, SDHD
Single nucleotide variant
(synonymous variant +1 more)
Cowden syndrome 3
+4 more
GLikely benign
LOC126861339, SDHD
Single nucleotide variant
(synonymous variant +1 more)
Cowden syndrome 3
+4 more
GLikely benign
LOC126861339, SDHD
(G15R)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
LOC126861339, SDHD
Deletion
(splice donor variant)
Cowden syndrome 3
+3 more
GLikely pathogenic
LOC126861339, SDHD
(G15R)
Single nucleotide variant
(missense variant +1 more)
Paragangliomas with sensorineural hearing loss
+3 more
GUncertain significance
LOC126861339, SDHD
(G15E)
Single nucleotide variant
(missense variant +1 more)
Carney-Stratakis syndrome
+3 more
GUncertain significance
LOC126861339, SDHD
(G15A)
Single nucleotide variant
(missense variant +1 more)
Paragangliomas with sensorineural hearing loss
+4 more
GUncertain significance
LOC126861339, SDHD
Single nucleotide variant
(synonymous variant +1 more)
Cowden syndrome 3
+3 more
GLikely benign
LOC126861339, SDHD
(G16C)
Single nucleotide variant
(missense variant +1 more)
Pheochromocytoma
+5 more
GUncertain significance
LOC126861339, SDHD
(G16R)
Single nucleotide variant
(missense variant +1 more)
Pheochromocytoma
+3 more
GUncertain significance
LOC126861339, SDHD
(G16V)
Single nucleotide variant
(missense variant +1 more)
Carney-Stratakis syndrome
+3 more
GUncertain significance
LOC126861339, SDHD
(G16D)
Single nucleotide variant
(missense variant +1 more)
Carney-Stratakis syndrome
+4 more
GUncertain significance
LOC126861339, SDHD
Single nucleotide variant
(synonymous variant +1 more)
Pheochromocytoma
+5 more
GLikely benign
LOC126861339, SDHD
(R17*)
Single nucleotide variant
(nonsense +1 more)
Paragangliomas 1
+6 more
GPathogenic
LOC126861339, SDHD
(R17G)
Single nucleotide variant
(missense variant +1 more)
Cowden syndrome 3
+7 more
GUncertain significance
LOC126861339, SDHD
(R17Q)
Single nucleotide variant
(missense variant +1 more)
Carney-Stratakis syndrome
+3 more
GUncertain significance
LOC126861339, SDHD
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
GUncertain significance
LOC126861339, SDHD
Single nucleotide variant
(synonymous variant +1 more)
Cowden syndrome 3
+4 more
GUncertain significance
LOC126861339, SDHD
Indel
(splice donor variant)
Pheochromocytoma
+4 more
GPathogenic/Likely pathogenic
LOC126861339, SDHD
Single nucleotide variant
(splice donor variant)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic
LOC126861339, SDHD
Single nucleotide variant
(splice donor variant)
Carney-Stratakis syndrome
+3 more
GPathogenic
LOC126861339, SDHD
Single nucleotide variant
(splice donor variant)
Pheochromocytoma
GLikely pathogenic
LOC126861339, SDHD
Duplication
(intron variant)
Pheochromocytoma
+3 more
GLikely benign
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