ClinVar for MedGen (Select 481622) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24423241.	NM_004168.4(SDHA):c.324dup (p.Ala109fs) GRCh37: Chr5:225544-225545 GRCh38: Chr5:225429-225430	SDHA	A109fs	Paragangliomas 5	Pathogenic (Jan 19, 2023)	criteria provided, single submitter
Select item 24423222.	NM_004168.4(SDHA):c.1065-2A>G GRCh37: Chr5:235257 GRCh38: Chr5:235142	SDHA		Paragangliomas 5	Likely pathogenic (Jan 11, 2023)	criteria provided, single submitter
Select item 24423213.	NM_004168.4(SDHA):c.637dup (p.Thr213fs) GRCh37: Chr5:228314-228315 GRCh38: Chr5:228199-228200	SDHA	T165fs, T213fs	Paragangliomas 5	Pathogenic (Jan 10, 2023)	criteria provided, single submitter
Select item 24204514.	NM_004168.4(SDHA):c.151-3C>T GRCh37: Chr5:224472 GRCh38: Chr5:224357	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (Apr 27, 2022)	criteria provided, single submitter
Select item 24161215.	NM_004168.4(SDHA):c.716T>G (p.Ile239Arg) GRCh37: Chr5:228394 GRCh38: Chr5:228279	SDHA	I191R, I239R	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (Sep 30, 2022)	criteria provided, single submitter
Select item 24132456.	NM_004168.4(SDHA):c.621+12C>T GRCh37: Chr5:226174 GRCh38: Chr5:226059	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 22036017.	NM_004168.4(SDHA):c.457-1G>A GRCh37: Chr5:225997 GRCh38: Chr5:225882	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Pathogenic (Oct 12, 2022)	criteria provided, single submitter
Select item 22013968.	NM_004168.4(SDHA):c.272C>T (p.Thr91Ile) GRCh37: Chr5:224596 GRCh38: Chr5:224481	SDHA	T91I	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 22007579.	NM_004168.4(SDHA):c.545A>G (p.Lys182Arg) GRCh37: Chr5:226086 GRCh38: Chr5:225971	SDHA	K182R, K134R	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (Jun 2, 2022)	criteria provided, single submitter
Select item 220072210.	NM_004168.4(SDHA):c.757G>C (p.Val253Leu) GRCh37: Chr5:228435 GRCh38: Chr5:228320	SDHA	V205L, V253L	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (Aug 4, 2022)	criteria provided, single submitter
Select item 219678111.	NM_004168.4(SDHA):c.1461C>A (p.Asn487Lys) GRCh37: Chr5:240501 GRCh38: Chr5:240386	SDHA	N487K, N439K	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 219632312.	NM_004168.4(SDHA):c.457-15T>C GRCh37: Chr5:225983 GRCh38: Chr5:225868	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely benign (May 15, 2022)	criteria provided, single submitter
Select item 219622813.	NM_004168.4(SDHA):c.1065-12_1065-11del GRCh37: Chr5:235246-235247 GRCh38: Chr5:235131-235132	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely benign (Jan 17, 2022)	criteria provided, single submitter
Select item 219526414.	NM_004168.4(SDHA):c.1453A>C (p.Lys485Gln) GRCh37: Chr5:240493 GRCh38: Chr5:240378	SDHA	K485Q, K437Q	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 219128915.	NM_004168.4(SDHA):c.1909-9_1909-7del GRCh37: Chr5:256436-256438 GRCh38: Chr5:256321-256323	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 219113716.	NM_004168.4(SDHA):c.64-2A>C GRCh37: Chr5:223595 GRCh38: Chr5:223480	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely pathogenic (Sep 13, 2022)	criteria provided, single submitter
Select item 218453217.	NM_004168.4(SDHA):c.1643A>G (p.His548Arg) GRCh37: Chr5:251198 GRCh38: Chr5:251083	SDHA	H548R, H500R	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 218333618.	NM_004168.4(SDHA):c.456+12G>C GRCh37: Chr5:225689 GRCh38: Chr5:225574	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 218268019.	NM_004168.4(SDHA):c.1009C>T (p.Leu337=) GRCh37: Chr5:233705 GRCh38: Chr5:233590	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 218174020.	NM_004168.4(SDHA):c.492A>G (p.Glu164=) GRCh37: Chr5:226033 GRCh38: Chr5:225918	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 218072621.	NM_004168.4(SDHA):c.1065-8C>G GRCh37: Chr5:235251 GRCh38: Chr5:235136	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (Oct 26, 2022)	criteria provided, single submitter
Select item 217989422.	NM_004168.4(SDHA):c.531C>G (p.Ser177Arg) GRCh37: Chr5:226072 GRCh38: Chr5:225957	SDHA	S177R, S129R	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (Dec 29, 2021)	criteria provided, single submitter
Select item 217967523.	NM_004168.4(SDHA):c.53T>A (p.Leu18Gln) GRCh37: Chr5:218523 GRCh38: Chr5:218408	SDHA	L18Q	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 217920924.	NM_004168.4(SDHA):c.466T>C (p.Tyr156His) GRCh37: Chr5:226007 GRCh38: Chr5:225892	SDHA	Y156H, Y108H	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 217663625.	NM_004168.4(SDHA):c.312+16C>G GRCh37: Chr5:224652 GRCh38: Chr5:224537	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 217630726.	NM_004168.4(SDHA):c.150+14T>G GRCh37: Chr5:223697 GRCh38: Chr5:223582	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely benign (Jul 10, 2022)	criteria provided, single submitter
Select item 217336027.	NM_004168.4(SDHA):c.1206C>G (p.Val402=) GRCh37: Chr5:235400 GRCh38: Chr5:235285	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely benign (Jun 12, 2022)	criteria provided, single submitter
Select item 217167928.	NM_004168.4(SDHA):c.1296G>A (p.Val432=) GRCh37: Chr5:236578 GRCh38: Chr5:236463	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 216903829.	NM_004168.4(SDHA):c.717A>T (p.Ile239=) GRCh37: Chr5:228395 GRCh38: Chr5:228280	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely benign (Jul 23, 2019)	criteria provided, single submitter
Select item 216841330.	NM_004168.4(SDHA):c.693C>T (p.Cys231=) GRCh37: Chr5:228371 GRCh38: Chr5:228256	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 216825231.	NM_004168.4(SDHA):c.151-2A>G GRCh37: Chr5:224473 GRCh38: Chr5:224358	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely pathogenic (Aug 9, 2022)	criteria provided, single submitter
Select item 216716532.	NM_004168.4(SDHA):c.54G>T (p.Leu18=) GRCh37: Chr5:218524 GRCh38: Chr5:218409	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 216706433.	NM_004168.4(SDHA):c.1433-7G>A GRCh37: Chr5:240466 GRCh38: Chr5:240351	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 216670534.	NM_004168.4(SDHA):c.842C>G (p.Thr281Ser) GRCh37: Chr5:231062 GRCh38: Chr5:230947	SDHA	T281S, T233S	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 216472535.	NM_004168.4(SDHA):c.1433-8del GRCh37: Chr5:240458 GRCh38: Chr5:240343	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Benign (May 29, 2022)	criteria provided, single submitter
Select item 216402936.	NM_004168.4(SDHA):c.1922A>G (p.Tyr641Cys) GRCh37: Chr5:256462 GRCh38: Chr5:256347	SDHA	Y593C, Y560C, Y641C	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (Jun 21, 2022)	criteria provided, single submitter
Select item 216167037.	NM_004168.4(SDHA):c.1794+15C>T GRCh37: Chr5:251598 GRCh38: Chr5:251483	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 215984338.	NM_004168.4(SDHA):c.63+13C>G GRCh37: Chr5:218546 GRCh38: Chr5:218431	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 215931939.	NM_004168.4(SDHA):c.1909-15A>G GRCh37: Chr5:256434 GRCh38: Chr5:256319	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 215693440.	NM_004168.4(SDHA):c.312+18C>T GRCh37: Chr5:224654 GRCh38: Chr5:224539	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 215640141.	NM_004168.4(SDHA):c.1161C>T (p.Ala387=) GRCh37: Chr5:235355 GRCh38: Chr5:235240	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely benign (Apr 9, 2022)	criteria provided, single submitter
Select item 215597042.	NM_004168.4(SDHA):c.1719G>T (p.Leu573=) GRCh37: Chr5:251508 GRCh38: Chr5:251393	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 215416743.	NM_004168.4(SDHA):c.923C>A (p.Thr308Lys) GRCh37: Chr5:233619 GRCh38: Chr5:233504	SDHA	T308K, T260K	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 215313044.	NM_004168.4(SDHA):c.1639A>C (p.Lys547Gln) GRCh37: Chr5:251194 GRCh38: Chr5:251079	SDHA	K499Q, K547Q	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 215294545.	NM_004168.4(SDHA):c.1063A>T (p.Arg355Ter) GRCh37: Chr5:233759 GRCh38: Chr5:233644	SDHA	R355, R307	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Pathogenic (Feb 22, 2022)	criteria provided, single submitter
Select item 215203746.	NM_004168.4(SDHA):c.151-16A>C GRCh37: Chr5:224459 GRCh38: Chr5:224344	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely benign (Jun 3, 2022)	criteria provided, single submitter
Select item 215199547.	NM_004168.4(SDHA):c.622T>C (p.Ser208Pro) GRCh37: Chr5:228300 GRCh38: Chr5:228185	SDHA	S160P, S208P	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 214703848.	NM_004168.4(SDHA):c.401G>T (p.Gly134Val) GRCh37: Chr5:225622 GRCh38: Chr5:225507	SDHA	G134V	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 214592349.	NM_004168.4(SDHA):c.159T>C (p.Ala53=) GRCh37: Chr5:224483 GRCh38: Chr5:224368	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 214589050.	NM_004168.4(SDHA):c.151-15A>G GRCh37: Chr5:224460 GRCh38: Chr5:224345	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 214400951.	NM_004168.4(SDHA):c.1260+18T>A GRCh37: Chr5:235472 GRCh38: Chr5:235357	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely benign (Oct 11, 2022)	criteria provided, single submitter
Select item 214371452.	NM_004168.4(SDHA):c.151-18T>G GRCh37: Chr5:224457 GRCh38: Chr5:224342	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 214286653.	NM_004168.4(SDHA):c.1551+12G>A GRCh37: Chr5:240603 GRCh38: Chr5:240488	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 214006054.	NM_004168.4(SDHA):c.861C>T (p.Cys287=) GRCh37: Chr5:231081 GRCh38: Chr5:230966	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 213999055.	NM_004168.4(SDHA):c.403del (p.Asp135fs) GRCh37: Chr5:225620 GRCh38: Chr5:225505	SDHA	D135fs	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Pathogenic (May 26, 2022)	criteria provided, single submitter
Select item 213890656.	NM_004168.4(SDHA):c.283C>G (p.Pro95Ala) GRCh37: Chr5:224607 GRCh38: Chr5:224492	SDHA	P95A	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (Jul 8, 2022)	criteria provided, single submitter
Select item 213576757.	NM_004168.4(SDHA):c.1062A>T (p.Gly354=) GRCh37: Chr5:233758 GRCh38: Chr5:233643	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (May 9, 2022)	criteria provided, single submitter
Select item 213534358.	NM_004168.4(SDHA):c.1551+11G>C GRCh37: Chr5:240602 GRCh38: Chr5:240487	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely benign (May 8, 2022)	criteria provided, single submitter
Select item 213529859.	NM_004168.4(SDHA):c.709C>G (p.Leu237Val) GRCh37: Chr5:228387 GRCh38: Chr5:228272	SDHA	L189V, L237V	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 213295760.	NM_004168.4(SDHA):c.1615A>G (p.Ile539Val) GRCh37: Chr5:251170 GRCh38: Chr5:251055	SDHA	I539V, I491V	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 213281961.	NM_004168.4(SDHA):c.7_24dup (p.Ser8_Arg9insGlyValArgGlyLeuSer) GRCh37: Chr5:218471-218472 GRCh38: Chr5:218356-218357	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 213149762.	NM_004168.4(SDHA):c.1626C>G (p.Leu542=) GRCh37: Chr5:251181 GRCh38: Chr5:251066	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 213100963.	NM_004168.4(SDHA):c.64-17G>A GRCh37: Chr5:223580 GRCh38: Chr5:223465	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 213080364.	NM_004168.4(SDHA):c.447C>A (p.Ala149=) GRCh37: Chr5:225668 GRCh38: Chr5:225553	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely benign (Apr 26, 2022)	criteria provided, single submitter
Select item 212986465.	NM_004168.4(SDHA):c.1083A>C (p.Lys361Asn) GRCh37: Chr5:235277 GRCh38: Chr5:235162	SDHA	K361N, K313N	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 212621066.	NM_004168.4(SDHA):c.1493A>C (p.Lys498Thr) GRCh37: Chr5:240533 GRCh38: Chr5:240418	SDHA	K498T, K450T	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 212618067.	NM_004168.4(SDHA):c.1320G>C (p.Glu440Asp) GRCh37: Chr5:236602 GRCh38: Chr5:236487	SDHA	E392D, E440D	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 212585868.	NM_004168.4(SDHA):c.71C>G (p.Thr24Arg) GRCh37: Chr5:223604 GRCh38: Chr5:223489	SDHA	T24R	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (Jul 7, 2022)	criteria provided, single submitter
Select item 212401069.	NM_004168.4(SDHA):c.751A>G (p.Asn251Asp) GRCh37: Chr5:228429 GRCh38: Chr5:228314	SDHA	N251D, N203D	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (Apr 30, 2022)	criteria provided, single submitter
Select item 212260970.	NM_004168.4(SDHA):c.1133dup (p.Arg379fs) GRCh37: Chr5:235326-235327 GRCh38: Chr5:235211-235212	SDHA	R331fs, R379fs	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Pathogenic (Jun 14, 2022)	criteria provided, single submitter
Select item 212237371.	NM_004168.4(SDHA):c.1466_1468del (p.Gly489del) GRCh37: Chr5:240505-240507 GRCh38: Chr5:240390-240392	SDHA	G441del, G489del	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (Aug 11, 2022)	criteria provided, single submitter
Select item 212003272.	NM_004168.4(SDHA):c.261A>C (p.Thr87=) GRCh37: Chr5:224585 GRCh38: Chr5:224470	SDHA		Hereditary cancer-predisposing syndrome, Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely benign (Feb 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 211947473.	NM_004168.4(SDHA):c.1433-15T>A GRCh37: Chr5:240458 GRCh38: Chr5:240343	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 211839474.	NM_004168.4(SDHA):c.1663+10C>G GRCh37: Chr5:251228 GRCh38: Chr5:251113	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 211677475.	NM_004168.4(SDHA):c.138A>G (p.Lys46=) GRCh37: Chr5:223671 GRCh38: Chr5:223556	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely benign (Mar 25, 2022)	criteria provided, single submitter
Select item 211674476.	NM_004168.4(SDHA):c.1437_1438insGT (p.Lys480fs) GRCh37: Chr5:240476-240477 GRCh38: Chr5:240361-240362	SDHA	K432fs, K480fs	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Pathogenic (Mar 29, 2022)	criteria provided, single submitter
Select item 211635377.	NM_004168.4(SDHA):c.1564C>T (p.His522Tyr) GRCh37: Chr5:251119 GRCh38: Chr5:251004	SDHA	H522Y, H474Y	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 211593478.	NM_004168.4(SDHA):c.1380G>A (p.Leu460=) GRCh37: Chr5:236662 GRCh38: Chr5:236547	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 211549179.	NM_004168.4(SDHA):c.1794+18G>T GRCh37: Chr5:251601 GRCh38: Chr5:251486	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely benign (Mar 21, 2022)	criteria provided, single submitter
Select item 211529680.	NM_004168.4(SDHA):c.142T>A (p.Ser48Thr) GRCh37: Chr5:223675 GRCh38: Chr5:223560	SDHA	S48T	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 211508481.	NM_004168.4(SDHA):c.896-2del GRCh37: Chr5:233590 GRCh38: Chr5:233475	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely pathogenic (Mar 20, 2022)	criteria provided, single submitter
Select item 211427482.	NM_004168.4(SDHA):c.329C>T (p.Ala110Val) GRCh37: Chr5:225550 GRCh38: Chr5:225435	SDHA	A110V	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (Mar 25, 2022)	criteria provided, single submitter
Select item 211408083.	NM_004168.4(SDHA):c.1139T>G (p.Leu380Arg) GRCh37: Chr5:235333 GRCh38: Chr5:235218	SDHA	L332R, L380R	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 211403784.	NM_004168.4(SDHA):c.1182C>A (p.Asp394Glu) GRCh37: Chr5:235376 GRCh38: Chr5:235261	SDHA	D346E, D394E	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 211315885.	NM_004168.4(SDHA):c.1261-19G>T GRCh37: Chr5:236524 GRCh38: Chr5:236409	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 210712686.	NM_004168.4(SDHA):c.341T>A (p.Met114Lys) GRCh37: Chr5:225562 GRCh38: Chr5:225447	SDHA	M114K	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (Mar 5, 2022)	criteria provided, single submitter
Select item 210511887.	NM_004168.4(SDHA):c.474G>A (p.Met158Ile) GRCh37: Chr5:226015 GRCh38: Chr5:225900	SDHA	M158I, M110I	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (Apr 17, 2022)	criteria provided, single submitter
Select item 209936288.	NM_004168.4(SDHA):c.1484A>T (p.Asn495Ile) GRCh37: Chr5:240524 GRCh38: Chr5:240409	SDHA	N447I, N495I	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 209875789.	NM_004168.4(SDHA):c.1260+23dup GRCh37: Chr5:235472-235473 GRCh38: Chr5:235357-235358	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Benign (Apr 29, 2022)	criteria provided, single submitter
Select item 209682390.	NM_004168.4(SDHA):c.880C>A (p.Gln294Lys) GRCh37: Chr5:231100 GRCh38: Chr5:230985	SDHA	Q294K, Q246K	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter
Select item 209479491.	NM_004168.4(SDHA):c.303T>C (p.Val101=) GRCh37: Chr5:224627 GRCh38: Chr5:224512	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 209437992.	NM_004168.4(SDHA):c.131C>G (p.Ser44Cys) GRCh37: Chr5:223664 GRCh38: Chr5:223549	SDHA	S44C	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (Feb 7, 2022)	criteria provided, single submitter
Select item 209437693.	NM_004168.4(SDHA):c.665T>C (p.Leu222Ser) GRCh37: Chr5:228343 GRCh38: Chr5:228228	SDHA	L174S, L222S	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 209409294.	NM_004168.4(SDHA):c.205G>T (p.Ala69Ser) GRCh37: Chr5:224529 GRCh38: Chr5:224414	SDHA	A69S	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 209294595.	NM_004168.4(SDHA):c.144A>G (p.Ser48=) GRCh37: Chr5:223677 GRCh38: Chr5:223562	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely benign (Aug 13, 2022)	criteria provided, single submitter
Select item 209169896.	NM_004168.4(SDHA):c.1600G>A (p.Glu534Lys) GRCh37: Chr5:251155 GRCh38: Chr5:251040	SDHA	E486K, E534K	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 208996997.	NM_004168.4(SDHA):c.220T>C (p.Leu74=) GRCh37: Chr5:224544 GRCh38: Chr5:224429	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely benign (Feb 23, 2022)	criteria provided, single submitter
Select item 208947498.	NM_004168.4(SDHA):c.1022A>G (p.Asp341Gly) GRCh37: Chr5:233718 GRCh38: Chr5:233603	SDHA	D341G, D293G	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 208744499.	NM_004168.4(SDHA):c.202G>A (p.Gly68Ser) GRCh37: Chr5:224526 GRCh38: Chr5:224411	SDHA	G68S	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Uncertain significance (Jan 18, 2022)	criteria provided, single submitter
Select item 2086658100.	NM_004168.4(SDHA):c.1608T>A (p.Cys536Ter) GRCh37: Chr5:251163 GRCh38: Chr5:251048	SDHA	C536, C488	Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Pathogenic (Apr 3, 2022)	criteria provided, single submitter

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