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Links from MedGen

Items: 1 to 100 of 2300

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SDHA
(L410* +1 more)
Single nucleotide variant
(nonsense)
Paragangliomas 5
GPathogenic
SDHA
(S199fs +1 more)
Deletion
(frameshift variant)
Paragangliomas 5
GPathogenic
SDHA
(S408* +1 more)
Single nucleotide variant
(nonsense)
Paragangliomas 5
GPathogenic
SDHA
(C536fs +1 more)
Deletion
(frameshift variant +1 more)
Paragangliomas 5
GPathogenic
SDHA
(G507* +1 more)
Single nucleotide variant
(nonsense +1 more)
Paragangliomas 5
GPathogenic
SDHA
(E116G)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex II deficiency, nuclear type 1
+1 more
GUncertain significance
SDHA
(K432* +1 more)
Single nucleotide variant
(nonsense)
Mitochondrial complex II deficiency, nuclear type 1
+1 more
GPathogenic
SDHA
Single nucleotide variant
(synonymous variant)
Mitochondrial complex II deficiency, nuclear type 1
+1 more
GLikely benign
SDHA
(S530N +1 more)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex II deficiency, nuclear type 1
+1 more
GUncertain significance
SDHA
(E350D +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex II deficiency, nuclear type 1
+1 more
GUncertain significance
SDHA
Single nucleotide variant
(intron variant)
Mitochondrial complex II deficiency, nuclear type 1
+1 more
GLikely benign
SDHA
Single nucleotide variant
(synonymous variant)
Paragangliomas 5
+1 more
GLikely benign
SDHA
(L404fs +1 more)
Deletion
(frameshift variant)
Paragangliomas 5
+1 more
GPathogenic
SDHA
(V295L +1 more)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+1 more
GUncertain significance
SDHA
Single nucleotide variant
(intron variant)
Paragangliomas 5
+1 more
GUncertain significance
SDHA
Single nucleotide variant
(intron variant)
Paragangliomas 5
+1 more
GLikely benign
SDHA
(P404L +1 more)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+1 more
GUncertain significance
SDHA
(T233I +1 more)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+1 more
GUncertain significance
SDHA
(D431V +1 more)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+1 more
GUncertain significance
SDHA
(S113R +1 more)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+1 more
GUncertain significance
SDHA
Single nucleotide variant
(synonymous variant)
Paragangliomas 5
+1 more
GLikely benign
SDHA
Single nucleotide variant
(synonymous variant)
Paragangliomas 5
+1 more
GLikely benign
SDHA
(D212T +1 more)
Indel
(missense variant)
Paragangliomas 5
+1 more
GUncertain significance
SDHA
Single nucleotide variant
(synonymous variant +1 more)
Paragangliomas 5
+1 more
GLikely benign
SDHA
(K586Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Paragangliomas 5
+1 more
GUncertain significance
SDHA
(D194N +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex II deficiency, nuclear type 1
+2 more
GUncertain significance
SDHA
(N473K +1 more)
Single nucleotide variant
(missense variant +1 more)
Paragangliomas 5
+1 more
GUncertain significance
SDHA
(F173fs +1 more)
Duplication
(frameshift variant)
Paragangliomas 5
+1 more
GPathogenic
SDHA
Single nucleotide variant
(synonymous variant)
Paragangliomas 5
+1 more
GLikely benign
SDHA
(A13T)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+1 more
GUncertain significance
SDHA
(I269V +1 more)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+1 more
GUncertain significance
SDHA
Single nucleotide variant
(intron variant)
Paragangliomas 5
+1 more
GPathogenic
SDHA
(P324S +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SDHA
(I307T +1 more)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+1 more
GUncertain significance
SDHA
Single nucleotide variant
(intron variant)
Paragangliomas 5
+1 more
GLikely benign
SDHA
(A396T +1 more)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+1 more
GUncertain significance
SDHA
Single nucleotide variant
(splice donor variant)
Paragangliomas 5
+1 more
GLikely pathogenic
SDHA
(I271fs +1 more)
Deletion
(frameshift variant)
Paragangliomas 5
+1 more
GPathogenic
SDHA
(E350M +1 more)
Indel
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SDHA
Single nucleotide variant
(intron variant)
Paragangliomas 5
+1 more
GLikely benign
SDHA
(F278L +1 more)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+1 more
GUncertain significance
SDHA
Single nucleotide variant
(intron variant)
Paragangliomas 5
+1 more
GLikely benign
SDHA
(R281P +1 more)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+1 more
GUncertain significance
SDHA
(V481I +1 more)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+1 more
GUncertain significance
SDHA
Single nucleotide variant
(intron variant)
Paragangliomas 5
+1 more
GLikely benign
SDHA
(E61Q)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+1 more
GUncertain significance
SDHA
(L204S +1 more)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+1 more
GUncertain significance
SDHA
Single nucleotide variant
(intron variant)
Paragangliomas 5
+1 more
GLikely benign
SDHA
(H424Y +1 more)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+1 more
GUncertain significance
SDHA
(S298Y +1 more)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+1 more
GUncertain significance
SDHA
(A53G)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+1 more
GUncertain significance
SDHA
Duplication
(intron variant)
Paragangliomas 5
+1 more
GLikely benign
SDHA
Single nucleotide variant
(synonymous variant +1 more)
Paragangliomas 5
+1 more
GLikely benign
SDHA
(P659A +2 more)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+1 more
GUncertain significance
SDHA
Single nucleotide variant
(splice donor variant)
Paragangliomas 5
+1 more
GLikely pathogenic
SDHA
(A13D)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+1 more
GUncertain significance
SDHA
(D381V +1 more)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+1 more
GUncertain significance
SDHA
(I413L +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SDHA
Single nucleotide variant
(intron variant)
Paragangliomas 5
+1 more
GLikely benign
SDHA
(Q327H +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SDHA
(E179D +1 more)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+1 more
GUncertain significance
SDHA
(A607V +2 more)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+1 more
GUncertain significance
SDHA
(Q380E +1 more)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+1 more
GUncertain significance
SDHA
(L349fs +1 more)
Microsatellite
(frameshift variant)
Paragangliomas 5
+1 more
GPathogenic
SDHA
Single nucleotide variant
(intron variant)
Paragangliomas 5
+1 more
GLikely benign
SDHA
(K179R +1 more)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+1 more
GUncertain significance
SDHA
(Y597del +1 more)
Deletion
(inframe_deletion +1 more)
Paragangliomas 5
+1 more
GUncertain significance
SDHA
(S195P +1 more)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+1 more
GUncertain significance
SDHA
Single nucleotide variant
(splice acceptor variant +1 more)
Paragangliomas 5
+1 more
GLikely pathogenic
SDHA
(E312D +1 more)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+1 more
GUncertain significance
SDHA
(T348S +1 more)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+1 more
GUncertain significance
SDHA
(E144A)
Single nucleotide variant
(missense variant +1 more)
Paragangliomas 5
+1 more
GUncertain significance
SDHA
(N107fs +1 more)
Deletion
(frameshift variant)
Paragangliomas 5
+2 more
GPathogenic
SDHA
(K349M +1 more)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+1 more
GUncertain significance
SDHA
(C427F +1 more)
Single nucleotide variant
(missense variant)
Paragangliomas 5
+1 more
GUncertain significance
SDHA
(V254del +1 more)
Microsatellite
(inframe_deletion)
Paragangliomas 5
+1 more
GUncertain significance
SDHA
Deletion
(intron variant)
Paragangliomas 5
+1 more
GUncertain significance
SDHA
(V509I +1 more)
Single nucleotide variant
(missense variant +1 more)
Paragangliomas 5
+1 more
GUncertain significance
SDHA
Single nucleotide variant
(intron variant)
Paragangliomas 5
+1 more
GLikely benign
SDHA
Single nucleotide variant
(intron variant +1 more)
Paragangliomas 5
+1 more
GLikely benign
SDHA
(S509fs +1 more)
Deletion
(frameshift variant)
Mitochondrial complex II deficiency, nuclear type 1
+1 more
GPathogenic
SDHA
(D117fs)
Deletion
(frameshift variant +1 more)
Mitochondrial complex II deficiency, nuclear type 1
+1 more
GPathogenic
SDHA
(A466fs +1 more)
Deletion
(frameshift variant)
Mitochondrial complex II deficiency, nuclear type 1
+1 more
GPathogenic
SDHA
Single nucleotide variant
(intron variant)
Mitochondrial complex II deficiency, nuclear type 1
+1 more
GUncertain significance
SDHA
(R282K +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex II deficiency, nuclear type 1
+1 more
GUncertain significance
SDHA
Single nucleotide variant
(intron variant)
Mitochondrial complex II deficiency, nuclear type 1
+1 more
GLikely benign
SDHA
Single nucleotide variant
(intron variant)
Mitochondrial complex II deficiency, nuclear type 1
+1 more
GLikely benign
SDHA
(M410R +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex II deficiency, nuclear type 1
+1 more
GUncertain significance
SDHA
Single nucleotide variant
(synonymous variant)
Mitochondrial complex II deficiency, nuclear type 1
+1 more
GLikely benign
SDHA
(V462I +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex II deficiency, nuclear type 1
+1 more
GUncertain significance
SDHA
(F123C)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex II deficiency, nuclear type 1
+1 more
GUncertain significance
SDHA
Single nucleotide variant
(intron variant)
Mitochondrial complex II deficiency, nuclear type 1
+1 more
GLikely benign
SDHA
Single nucleotide variant
(synonymous variant)
Mitochondrial complex II deficiency, nuclear type 1
+1 more
GLikely benign
SDHA
Single nucleotide variant
(synonymous variant)
Mitochondrial complex II deficiency, nuclear type 1
+1 more
GLikely benign
SDHA
(R297G +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
SDHA
(T260A +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex II deficiency, nuclear type 1
+1 more
GUncertain significance
SDHA
Deletion
(intron variant)
Mitochondrial complex II deficiency, nuclear type 1
+1 more
GLikely benign
SDHA
Single nucleotide variant
(synonymous variant)
Mitochondrial complex II deficiency, nuclear type 1
+1 more
GLikely benign
SDHA
(M299L +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial complex II deficiency, nuclear type 1
+1 more
GUncertain significance
SDHA
(A102fs)
Duplication
(frameshift variant)
Mitochondrial complex II deficiency, nuclear type 1
+1 more
GPathogenic
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