"GeneDx"[submitter] AND "SDHA"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152421	GRCh38/hg38 5p15.33(chr5:22149-356107)x1	AHRR, CCDC127 +24 more	Copy number loss	See cases	GLikely benign
Select item 151630	GRCh38/hg38 5p15.33(chr5:22149-658446)x1	LOC132089252, LOC132089253 +75 more	Copy number loss	See cases	GLikely benign
Select item 146067	GRCh38/hg38 5p15.33(chr5:22149-1278576)x3	LOC132089294, LOC132089295 +113 more	Copy number gain	See cases	GUncertain significance
Select item 144883	GRCh38/hg38 5p15.33(chr5:22149-221160)x1	CCDC127, LOC121725197 +9 more	Copy number loss	See cases	GLikely benign
Select item 59557	GRCh38/hg38 5p15.33(chr5:22149-3556942)x1	AHRR, BRD9 +194 more	Copy number loss	See cases	GPathogenic
Select item 59578	GRCh38/hg38 5p15.33(chr5:37694-2913205)x1	LOC132090723, LOC132090724 +182 more	Copy number loss	See cases	GPathogenic
Select item 59577	GRCh38/hg38 5p15.33(chr5:37694-2746908)x1	AHRR, BRD9 +180 more	Copy number loss	See cases	GPathogenic
Select item 59601	GRCh38/hg38 5p15.33-15.32(chr5:54839-5603401)x1	ADAMTS16, ADAMTS16-DT +226 more	Copy number loss	See cases	GPathogenic
Select item 145915	GRCh38/hg38 5p15.33(chr5:151622-234045)x3	CCDC127, LOC121725197 +8 more	Copy number gain	See cases	GLikely benign
Select item 371942	NM_004168.4(SDHA):c.-7A>C	SDHA	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex II deficiency, nuclear type 1 +6 more	GConflicting classifications of pathogenicity
Select item 3340185	NM_004168.4(SDHA):c.-6G>A	SDHA	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 3223751	NM_004168.4(SDHA):c.-5C>G	SDHA	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 371867	NM_004168.4(SDHA):c.-5C>T	SDHA	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 259243	NM_004168.4(SDHA):c.-4A>G	SDHA	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex II deficiency, nuclear type 1 +4 more	GBenign/Likely benign
Select item 486369	NM_004168.4(SDHA):c.-3G>T	SDHA	Single nucleotide variant (5 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1798646	NM_004168.4(SDHA):c.-2A>G	SDHA	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 353200	NM_004168.4(SDHA):c.-1C>T	SDHA	Single nucleotide variant (5 prime UTR variant)	Leigh syndrome +4 more	GConflicting classifications of pathogenicity
Select item 426781	NM_004168.4(SDHA):c.1del (p.Met1fs)	SDHA (M1fs)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic
Select item 239661	NM_004168.4(SDHA):c.1A>G (p.Met1Val)	SDHA (M1V)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex II deficiency, nuclear type 1 +3 more	GPathogenic/Likely pathogenic
Select item 422382	NM_004168.4(SDHA):c.2T>G (p.Met1Arg)	SDHA (M1R)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 412386	NM_004168.4(SDHA):c.5C>T (p.Ser2Leu)	SDHA (S2L)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +6 more	GConflicting classifications of pathogenicity
Select item 412384	NM_004168.4(SDHA):c.13C>T (p.Arg5Trp)	SDHA (R5W)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +5 more	GUncertain significance
Select item 849161	NM_004168.4(SDHA):c.17G>T (p.Gly6Val)	SDHA (G6V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 224952	NM_004168.4(SDHA):c.17G>A (p.Gly6Asp)	SDHA (G6D)	Single nucleotide variant (missense variant)	Leigh syndrome +6 more	GConflicting classifications of pathogenicity
Select item 239665	NM_004168.4(SDHA):c.23C>G (p.Ser8Trp)	SDHA (S8W)	Single nucleotide variant (missense variant)	Paragangliomas 5 +4 more	GUncertain significance
Select item 950063	NM_004168.4(SDHA):c.40C>T (p.Arg14Trp)	SDHA (R14W)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 574154	NM_004168.4(SDHA):c.46_52dup (p.Leu18fs)	SDHA (L18fs)	Duplication (frameshift variant)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GPathogenic/Likely pathogenic
Select item 1741037	NM_004168.4(SDHA):c.44G>A (p.Arg15His)	SDHA (R15H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 252901	NM_004168.4(SDHA):c.57C>G (p.Ala19=)	SDHA	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 3371081	NM_004168.4(SDHA):c.61G>T (p.Ala21Ser)	SDHA (A21S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315967	NM_004168.4(SDHA):c.63+3G>C	SDHA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 508386	NM_004168.4(SDHA):c.63+19C>A	SDHA	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 507726	NM_004168.4(SDHA):c.84A>G (p.Thr28=)	SDHA	Single nucleotide variant (synonymous variant)	Mitochondrial complex II deficiency, nuclear type 1 +3 more	GLikely benign
Select item 472412	NM_004168.4(SDHA):c.86G>A (p.Gly29Glu)	SDHA (G29E)	Single nucleotide variant (missense variant)	Paragangliomas 5 +3 more	GUncertain significance
Select item 142601	NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)	SDHA (R31*)	Single nucleotide variant (nonsense)	Gastrointestinal stromal tumor +9 more	GPathogenic/Likely pathogenic
Select item 239687	NM_004168.4(SDHA):c.92G>A (p.Arg31Gln)	SDHA (R31Q)	Single nucleotide variant (missense variant)	Paragangliomas 5 +5 more	GConflicting classifications of pathogenicity
Select item 230054	NM_004168.4(SDHA):c.106A>G (p.Thr36Ala)	SDHA (T36A)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1GG +4 more	GUncertain significance
Select item 239636	NM_004168.4(SDHA):c.109G>A (p.Val37Ile)	SDHA (V37I)	Single nucleotide variant (missense variant)	Paragangliomas 5 +3 more	GConflicting classifications of pathogenicity
Select item 224957	NM_004168.4(SDHA):c.113A>T (p.Asp38Val)	SDHA (D38V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1GG +7 more	GBenign/Likely benign
Select item 3338849	NM_004168.4(SDHA):c.117del (p.Asn40fs)	SDHA (N40fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 224947	NM_004168.4(SDHA):c.133G>A (p.Ala45Thr)	SDHA (A45T)	Single nucleotide variant (missense variant)	Leigh syndrome +6 more	GConflicting classifications of pathogenicity
Select item 224951	NM_004168.4(SDHA):c.136A>G (p.Lys46Glu)	SDHA (K46E)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 841052	NM_004168.4(SDHA):c.145G>C (p.Asp49His)	SDHA (D49H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 141767	NM_004168.4(SDHA):c.146A>G (p.Asp49Gly)	SDHA (D49G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 388610	NM_004168.4(SDHA):c.150+1G>A	SDHA	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1GG +4 more	GConflicting classifications of pathogenicity
Select item 2168252	NM_004168.4(SDHA):c.151-2A>G	SDHA	Single nucleotide variant (splice acceptor variant)	Paragangliomas 5 +3 more	GLikely pathogenic
Select item 252906	NM_004168.4(SDHA):c.155C>T (p.Ser52Phe)	SDHA (S52F)	Single nucleotide variant (missense variant)	Leigh syndrome +7 more	GUncertain significance
Select item 962458	NM_004168.4(SDHA):c.160C>T (p.Gln54Ter)	SDHA (Q54*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 353201	NM_004168.4(SDHA):c.163T>C (p.Tyr55His)	SDHA (Y55H)	Single nucleotide variant (missense variant)	Leigh syndrome +6 more	GBenign/Likely benign
Select item 545901	NM_004168.4(SDHA):c.171dup (p.Val58fs)	SDHA (V58fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 239662	NM_004168.4(SDHA):c.205G>A (p.Ala69Thr)	SDHA (A69T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 209127	NM_004168.4(SDHA):c.223C>T (p.Arg75Ter)	SDHA (R75*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic/Likely pathogenic
Select item 524020	NM_004168.4(SDHA):c.255del (p.Phe85fs)	SDHA (F85fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 539673	NM_004168.4(SDHA):c.260C>T (p.Thr87Ile)	SDHA (T87I)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +4 more	GUncertain significance
Select item 955629	NM_004168.4(SDHA):c.263C>G (p.Ala88Gly)	SDHA (A88G)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 239666	NM_004168.4(SDHA):c.287C>T (p.Thr96Ile)	SDHA (T96I)	Single nucleotide variant (missense variant)	B-lymphoblastic leukemia/lymphoma with hypodiploidy +5 more	GUncertain significance
Select item 539690	NM_004168.4(SDHA):c.290G>C (p.Arg97Thr)	SDHA (R97T)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 858570	NM_004168.4(SDHA):c.305C>T (p.Ala102Val)	SDHA (A102V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 130280	NM_004168.4(SDHA):c.309A>G (p.Ala103=)	SDHA	Single nucleotide variant (synonymous variant)	Leigh syndrome +6 more	GBenign
Select item 371857	NM_004168.4(SDHA):c.313-19G>T	SDHA	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 856810	NM_004168.4(SDHA):c.356G>A (p.Trp119Ter)	SDHA (W119*)	Single nucleotide variant (nonsense +1 more)	not provided +4 more	GPathogenic
Select item 824090	NM_004168.4(SDHA):c.369C>G (p.Phe123Leu)	SDHA (F123L)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 824147	NM_004168.4(SDHA):c.373G>C (p.Asp125His)	SDHA (D125H)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 412352	NM_004168.4(SDHA):c.424A>G (p.Met142Val)	SDHA (M142V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 239668	NM_004168.4(SDHA):c.442G>A (p.Ala148Thr)	SDHA (A148T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 486371	NM_004168.4(SDHA):c.448G>A (p.Val150Met)	SDHA (V150M)	Single nucleotide variant (missense variant +1 more)	Paragangliomas 5 +6 more	GUncertain significance
Select item 412391	NM_004168.4(SDHA):c.453C>A (p.Val151=)	SDHA	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 239670	NM_004168.4(SDHA):c.453C>T (p.Val151=)	SDHA	Single nucleotide variant (synonymous variant +1 more)	Paragangliomas 5 +4 more	GLikely benign
Select item 472390	NM_004168.4(SDHA):c.454G>A (p.Glu152Lys)	SDHA (E152K)	Single nucleotide variant (missense variant +1 more)	Paragangliomas 5 +4 more	GConflicting classifications of pathogenicity
Select item 942329	NM_004168.4(SDHA):c.456G>A (p.Glu152=)	SDHA	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial complex II deficiency, nuclear type 1 +3 more	GUncertain significance
Select item 239671	NM_004168.4(SDHA):c.456+6G>T	SDHA	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 385656	NM_004168.4(SDHA):c.456+9C>T	SDHA	Single nucleotide variant (intron variant)	Paragangliomas 5 +2 more	GLikely benign
Select item 259246	NM_004168.4(SDHA):c.456+20G>C	SDHA	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 472393	NM_004168.4(SDHA):c.464A>G (p.Asn155Ser)	SDHA (N155S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 412335	NM_004168.4(SDHA):c.466T>G (p.Tyr156Asp)	SDHA (Y156D +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 947042	NM_004168.4(SDHA):c.484del (p.Arg162fs)	SDHA (R114fs +1 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic/Likely pathogenic
Select item 1468607	NM_004168.4(SDHA):c.488C>A (p.Thr163Asn)	SDHA (T115N +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 963574	NM_004168.4(SDHA):c.511C>T (p.Arg171Cys)	SDHA (R123C +1 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +4 more	GUncertain significance
Select item 141875	NM_004168.4(SDHA):c.512G>A (p.Arg171His)	SDHA (R171H +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +7 more	GUncertain significance
Select item 239673	NM_004168.4(SDHA):c.513T>C (p.Arg171=)	SDHA	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 2581933	NM_004168.4(SDHA):c.518T>C (p.Phe173Ser)	SDHA (F125S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 252909	NM_004168.4(SDHA):c.549C>T (p.Gly183=)	SDHA	Single nucleotide variant (synonymous variant)	Mitochondrial complex II deficiency, nuclear type 1 +6 more	GConflicting classifications of pathogenicity
Select item 221062	NM_004168.4(SDHA):c.550G>A (p.Gly184Arg)	SDHA (G184R +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +6 more	GBenign/Likely benign
Select item 480771	NM_004168.4(SDHA):c.553C>T (p.Gln185Ter)	SDHA (Q185* +1 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1GG +4 more	GPathogenic
Select item 450839	NM_004168.4(SDHA):c.563G>A (p.Arg188Gln)	SDHA (R188Q +1 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +4 more	GConflicting classifications of pathogenicity
Select item 841097	NM_004168.4(SDHA):c.568T>C (p.Cys190Arg)	SDHA (C190R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 3368154	NM_004168.4(SDHA):c.574G>T (p.Val192Leu)	SDHA (V144L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 412349	NM_004168.4(SDHA):c.607A>G (p.Thr203Ala)	SDHA (T203A +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +5 more	GUncertain significance
Select item 412329	NM_004168.4(SDHA):c.613T>C (p.Tyr205His)	SDHA (Y205H +1 more)	Single nucleotide variant (missense variant)	Paragangliomas 5 +5 more	GUncertain significance
Select item 130281	NM_004168.4(SDHA):c.619A>C (p.Arg207=)	SDHA	Single nucleotide variant (synonymous variant)	Leigh syndrome +6 more	GBenign
Select item 509111	NM_004168.4(SDHA):c.621+16T>C	SDHA	Single nucleotide variant (intron variant)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GLikely benign
Select item 259247	NM_004168.4(SDHA):c.622-13del	SDHA	Deletion (intron variant)	not provided +1 more	GBenign
Select item 239678	NM_004168.4(SDHA):c.622-8T>C	SDHA	Single nucleotide variant (intron variant)	Paragangliomas 5 +2 more	GConflicting classifications of pathogenicity
Select item 539663	NM_004168.4(SDHA):c.628C>T (p.Arg210Ter)	SDHA (R210* +1 more)	Single nucleotide variant (nonsense)	Paragangliomas 5 +5 more	GPathogenic/Likely pathogenic
Select item 412347	NM_004168.4(SDHA):c.666G>T (p.Leu222Phe)	SDHA (L222F +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex II deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 141876	NM_004168.4(SDHA):c.667del (p.Asp223fs)	SDHA (D175fs +1 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1GG +4 more	GPathogenic/Likely pathogenic
Select item 130282	NM_004168.4(SDHA):c.684T>C (p.Asn228=)	SDHA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GBenign
Select item 472291	NM_004168.4(SDHA):c.688del (p.Glu230fs)	SDHA (E182fs +1 more)	Deletion (frameshift variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 539679	NM_004168.4(SDHA):c.688G>C (p.Glu230Gln)	SDHA (E230Q +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 239680	NM_004168.4(SDHA):c.694C>T (p.Arg232Cys)	SDHA (R232C +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance

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