ClinVar for MedGen (Select 1814582) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24204511.	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 24161212.	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, SDHA-related condition	Uncertain significance (Sep 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 24132453.	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 22036014.	NM_004168.4(SDHA):c.457-1G>A GRCh37: Chr5:225997 GRCh38: Chr5:225882	SDHA		Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Pathogenic/Likely pathogenic (Apr 26, 2023)	criteria provided, multiple submitters, no conflicts
Select item 22013965.	NM_004168.4(SDHA):c.272C>T (p.Thr91Ile) GRCh37: Chr5:224596 GRCh38: Chr5:224481	SDHA	T91I	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 22007576.	NM_004168.4(SDHA):c.545A>G (p.Lys182Arg) GRCh37: Chr5:226086 GRCh38: Chr5:225971	SDHA	K182R, K134R	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (Jun 2, 2022)	criteria provided, single submitter
Select item 22007227.	NM_004168.4(SDHA):c.757G>C (p.Val253Leu) GRCh37: Chr5:228435 GRCh38: Chr5:228320	SDHA	V205L, V253L	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (Aug 4, 2022)	criteria provided, single submitter
Select item 21967818.	NM_004168.4(SDHA):c.1461C>A (p.Asn487Lys) GRCh37: Chr5:240501 GRCh38: Chr5:240386	SDHA	N487K, N439K	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 21963239.	NM_004168.4(SDHA):c.457-15T>C GRCh37: Chr5:225983 GRCh38: Chr5:225868	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Likely benign (May 15, 2022)	criteria provided, single submitter
Select item 219622810.	NM_004168.4(SDHA):c.1065-12_1065-11del GRCh37: Chr5:235246-235247 GRCh38: Chr5:235131-235132	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Likely benign (Jan 17, 2022)	criteria provided, single submitter
Select item 219526411.	NM_004168.4(SDHA):c.1453A>C (p.Lys485Gln) GRCh37: Chr5:240493 GRCh38: Chr5:240378	SDHA	K485Q, K437Q	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 219128912.	NM_004168.4(SDHA):c.1909-9_1909-7del GRCh37: Chr5:256436-256438 GRCh38: Chr5:256321-256323	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 219113713.	NM_004168.4(SDHA):c.64-2A>C GRCh37: Chr5:223595 GRCh38: Chr5:223480	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Likely pathogenic (Sep 13, 2022)	criteria provided, single submitter
Select item 218453214.	NM_004168.4(SDHA):c.1643A>G (p.His548Arg) GRCh37: Chr5:251198 GRCh38: Chr5:251083	SDHA	H548R, H500R	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 218333615.	NM_004168.4(SDHA):c.456+12G>C GRCh37: Chr5:225689 GRCh38: Chr5:225574	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 218268016.	NM_004168.4(SDHA):c.1009C>T (p.Leu337=) GRCh37: Chr5:233705 GRCh38: Chr5:233590	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 218174017.	NM_004168.4(SDHA):c.492A>G (p.Glu164=) GRCh37: Chr5:226033 GRCh38: Chr5:225918	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5, Hereditary cancer-predisposing syndrome	Likely benign (Jul 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 218072618.	NM_004168.4(SDHA):c.1065-8C>G GRCh37: Chr5:235251 GRCh38: Chr5:235136	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (Oct 26, 2022)	criteria provided, single submitter
Select item 217989419.	NM_004168.4(SDHA):c.531C>G (p.Ser177Arg) GRCh37: Chr5:226072 GRCh38: Chr5:225957	SDHA	S177R, S129R	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (Dec 29, 2021)	criteria provided, single submitter
Select item 217967520.	NM_004168.4(SDHA):c.53T>A (p.Leu18Gln) GRCh37: Chr5:218523 GRCh38: Chr5:218408	SDHA	L18Q	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 217920921.	NM_004168.4(SDHA):c.466T>C (p.Tyr156His) GRCh37: Chr5:226007 GRCh38: Chr5:225892	SDHA	Y156H, Y108H	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 217663622.	NM_004168.4(SDHA):c.312+16C>G GRCh37: Chr5:224652 GRCh38: Chr5:224537	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 217630723.	NM_004168.4(SDHA):c.150+14T>G GRCh37: Chr5:223697 GRCh38: Chr5:223582	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Likely benign (Jul 10, 2022)	criteria provided, single submitter
Select item 217336024.	NM_004168.4(SDHA):c.1206C>G (p.Val402=) GRCh37: Chr5:235400 GRCh38: Chr5:235285	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Likely benign (Jun 12, 2022)	criteria provided, single submitter
Select item 217167925.	NM_004168.4(SDHA):c.1296G>A (p.Val432=) GRCh37: Chr5:236578 GRCh38: Chr5:236463	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 216903826.	NM_004168.4(SDHA):c.717A>T (p.Ile239=) GRCh37: Chr5:228395 GRCh38: Chr5:228280	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Likely benign (Jul 23, 2019)	criteria provided, single submitter
Select item 216841327.	NM_004168.4(SDHA):c.693C>T (p.Cys231=) GRCh37: Chr5:228371 GRCh38: Chr5:228256	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 216825228.	NM_004168.4(SDHA):c.151-2A>G GRCh37: Chr5:224473 GRCh38: Chr5:224358	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Likely pathogenic (Aug 9, 2022)	criteria provided, single submitter
Select item 216716529.	NM_004168.4(SDHA):c.54G>T (p.Leu18=) GRCh37: Chr5:218524 GRCh38: Chr5:218409	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 216706430.	NM_004168.4(SDHA):c.1433-7G>A GRCh37: Chr5:240466 GRCh38: Chr5:240351	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 216670531.	NM_004168.4(SDHA):c.842C>G (p.Thr281Ser) GRCh37: Chr5:231062 GRCh38: Chr5:230947	SDHA	T281S, T233S	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 216472532.	NM_004168.4(SDHA):c.1433-8del GRCh37: Chr5:240458 GRCh38: Chr5:240343	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Benign (May 29, 2022)	criteria provided, single submitter
Select item 216402933.	NM_004168.4(SDHA):c.1922A>G (p.Tyr641Cys) GRCh37: Chr5:256462 GRCh38: Chr5:256347	SDHA	Y593C, Y560C, Y641C	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (Jun 21, 2022)	criteria provided, single submitter
Select item 216167034.	NM_004168.4(SDHA):c.1794+15C>T GRCh37: Chr5:251598 GRCh38: Chr5:251483	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 215984335.	NM_004168.4(SDHA):c.63+13C>G GRCh37: Chr5:218546 GRCh38: Chr5:218431	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 215931936.	NM_004168.4(SDHA):c.1909-15A>G GRCh37: Chr5:256434 GRCh38: Chr5:256319	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 215693437.	NM_004168.4(SDHA):c.312+18C>T GRCh37: Chr5:224654 GRCh38: Chr5:224539	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 215640138.	NM_004168.4(SDHA):c.1161C>T (p.Ala387=) GRCh37: Chr5:235355 GRCh38: Chr5:235240	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Likely benign (Apr 9, 2022)	criteria provided, single submitter
Select item 215597039.	NM_004168.4(SDHA):c.1719G>T (p.Leu573=) GRCh37: Chr5:251508 GRCh38: Chr5:251393	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 215416740.	NM_004168.4(SDHA):c.923C>A (p.Thr308Lys) GRCh37: Chr5:233619 GRCh38: Chr5:233504	SDHA	T308K, T260K	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 215313041.	NM_004168.4(SDHA):c.1639A>C (p.Lys547Gln) GRCh37: Chr5:251194 GRCh38: Chr5:251079	SDHA	K499Q, K547Q	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 215294542.	NM_004168.4(SDHA):c.1063A>T (p.Arg355Ter) GRCh37: Chr5:233759 GRCh38: Chr5:233644	SDHA	R355, R307	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Pathogenic (Feb 22, 2022)	criteria provided, single submitter
Select item 215203743.	NM_004168.4(SDHA):c.151-16A>C GRCh37: Chr5:224459 GRCh38: Chr5:224344	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Likely benign (Jun 3, 2022)	criteria provided, single submitter
Select item 215199544.	NM_004168.4(SDHA):c.622T>C (p.Ser208Pro) GRCh37: Chr5:228300 GRCh38: Chr5:228185	SDHA	S160P, S208P	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 214703845.	NM_004168.4(SDHA):c.401G>T (p.Gly134Val) GRCh37: Chr5:225622 GRCh38: Chr5:225507	SDHA	G134V	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 214592346.	NM_004168.4(SDHA):c.159T>C (p.Ala53=) GRCh37: Chr5:224483 GRCh38: Chr5:224368	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 214589047.	NM_004168.4(SDHA):c.151-15A>G GRCh37: Chr5:224460 GRCh38: Chr5:224345	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 214400948.	NM_004168.4(SDHA):c.1260+18T>A GRCh37: Chr5:235472 GRCh38: Chr5:235357	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Likely benign (Oct 11, 2022)	criteria provided, single submitter
Select item 214371449.	NM_004168.4(SDHA):c.151-18T>G GRCh37: Chr5:224457 GRCh38: Chr5:224342	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 214286650.	NM_004168.4(SDHA):c.1551+12G>A GRCh37: Chr5:240603 GRCh38: Chr5:240488	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 214006051.	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, Hereditary cancer-predisposing syndrome	Likely benign (Sep 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 213999052.	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, Hereditary cancer-predisposing syndrome, Paragangliomas 5	Pathogenic (Aug 30, 2023)	criteria provided, multiple submitters, no conflicts
Select item 213890653.	NM_004168.4(SDHA):c.283C>G (p.Pro95Ala) GRCh37: Chr5:224607 GRCh38: Chr5:224492	SDHA	P95A	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (Jul 8, 2022)	criteria provided, single submitter
Select item 213576754.	NM_004168.4(SDHA):c.1062A>T (p.Gly354=) GRCh37: Chr5:233758 GRCh38: Chr5:233643	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (May 9, 2022)	criteria provided, single submitter
Select item 213534355.	NM_004168.4(SDHA):c.1551+11G>C GRCh37: Chr5:240602 GRCh38: Chr5:240487	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Likely benign (May 8, 2022)	criteria provided, single submitter
Select item 213529856.	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, Hereditary cancer-predisposing syndrome	Uncertain significance (Mar 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 213295757.	NM_004168.4(SDHA):c.1615A>G (p.Ile539Val) GRCh37: Chr5:251170 GRCh38: Chr5:251055	SDHA	I539V, I491V	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 213281958.	NM_004168.4(SDHA):c.7_24dup (p.Ser8_Arg9insGlyValArgGlyLeuSer) GRCh37: Chr5:218471-218472 GRCh38: Chr5:218356-218357	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 213149759.	NM_004168.4(SDHA):c.1626C>G (p.Leu542=) GRCh37: Chr5:251181 GRCh38: Chr5:251066	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 213100960.	NM_004168.4(SDHA):c.64-17G>A GRCh37: Chr5:223580 GRCh38: Chr5:223465	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 213080361.	NM_004168.4(SDHA):c.447C>A (p.Ala149=) GRCh37: Chr5:225668 GRCh38: Chr5:225553	SDHA		Hereditary cancer-predisposing syndrome, Paragangliomas 5, Mitochondrial complex II deficiency, nuclear type 1	Likely benign (May 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 212986462.	NM_004168.4(SDHA):c.1083A>C (p.Lys361Asn) GRCh37: Chr5:235277 GRCh38: Chr5:235162	SDHA	K361N, K313N	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 212621063.	NM_004168.4(SDHA):c.1493A>C (p.Lys498Thr) GRCh37: Chr5:240533 GRCh38: Chr5:240418	SDHA	K498T, K450T	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 212618064.	NM_004168.4(SDHA):c.1320G>C (p.Glu440Asp) GRCh37: Chr5:236602 GRCh38: Chr5:236487	SDHA	E392D, E440D	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 212585865.	NM_004168.4(SDHA):c.71C>G (p.Thr24Arg) GRCh37: Chr5:223604 GRCh38: Chr5:223489	SDHA	T24R	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (Jul 7, 2022)	criteria provided, single submitter
Select item 212401066.	NM_004168.4(SDHA):c.751A>G (p.Asn251Asp) GRCh37: Chr5:228429 GRCh38: Chr5:228314	SDHA	N251D, N203D	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (Apr 30, 2022)	criteria provided, single submitter
Select item 212260967.	NM_004168.4(SDHA):c.1133dup (p.Arg379fs) GRCh37: Chr5:235326-235327 GRCh38: Chr5:235211-235212	SDHA	R331fs, R379fs	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Pathogenic (Jun 14, 2022)	criteria provided, single submitter
Select item 212237368.	NM_004168.4(SDHA):c.1466_1468del (p.Gly489del) GRCh37: Chr5:240505-240507 GRCh38: Chr5:240390-240392	SDHA	G441del, G489del	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (Aug 11, 2022)	criteria provided, single submitter
Select item 212003269.	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 211947470.	NM_004168.4(SDHA):c.1433-15T>A GRCh37: Chr5:240458 GRCh38: Chr5:240343	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 211839471.	NM_004168.4(SDHA):c.1663+10C>G GRCh37: Chr5:251228 GRCh38: Chr5:251113	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 211677472.	NM_004168.4(SDHA):c.138A>G (p.Lys46=) GRCh37: Chr5:223671 GRCh38: Chr5:223556	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Likely benign (Mar 25, 2022)	criteria provided, single submitter
Select item 211674473.	NM_004168.4(SDHA):c.1437_1438insGT (p.Lys480fs) GRCh37: Chr5:240476-240477 GRCh38: Chr5:240361-240362	SDHA	K432fs, K480fs	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Pathogenic (Mar 29, 2022)	criteria provided, single submitter
Select item 211635374.	NM_004168.4(SDHA):c.1564C>T (p.His522Tyr) GRCh37: Chr5:251119 GRCh38: Chr5:251004	SDHA	H522Y, H474Y	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 211593475.	NM_004168.4(SDHA):c.1380G>A (p.Leu460=) GRCh37: Chr5:236662 GRCh38: Chr5:236547	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 211549176.	NM_004168.4(SDHA):c.1794+18G>T GRCh37: Chr5:251601 GRCh38: Chr5:251486	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Likely benign (Mar 21, 2022)	criteria provided, single submitter
Select item 211529677.	NM_004168.4(SDHA):c.142T>A (p.Ser48Thr) GRCh37: Chr5:223675 GRCh38: Chr5:223560	SDHA	S48T	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 211508478.	NM_004168.4(SDHA):c.896-2del GRCh37: Chr5:233590 GRCh38: Chr5:233475	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Likely pathogenic (Mar 20, 2022)	criteria provided, single submitter
Select item 211427479.	NM_004168.4(SDHA):c.329C>T (p.Ala110Val) GRCh37: Chr5:225550 GRCh38: Chr5:225435	SDHA	A110V	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (Mar 25, 2022)	criteria provided, single submitter
Select item 211408080.	NM_004168.4(SDHA):c.1139T>G (p.Leu380Arg) GRCh37: Chr5:235333 GRCh38: Chr5:235218	SDHA	L332R, L380R	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 211403781.	NM_004168.4(SDHA):c.1182C>A (p.Asp394Glu) GRCh37: Chr5:235376 GRCh38: Chr5:235261	SDHA	D346E, D394E	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 211315882.	NM_004168.4(SDHA):c.1261-19G>T GRCh37: Chr5:236524 GRCh38: Chr5:236409	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 210712683.	NM_004168.4(SDHA):c.341T>A (p.Met114Lys) GRCh37: Chr5:225562 GRCh38: Chr5:225447	SDHA	M114K	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (Mar 5, 2022)	criteria provided, single submitter
Select item 210511884.	NM_004168.4(SDHA):c.474G>A (p.Met158Ile) GRCh37: Chr5:226015 GRCh38: Chr5:225900	SDHA	M158I, M110I	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (Apr 17, 2022)	criteria provided, single submitter
Select item 209936285.	NM_004168.4(SDHA):c.1484A>T (p.Asn495Ile) GRCh37: Chr5:240524 GRCh38: Chr5:240409	SDHA	N447I, N495I	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 209875786.	NM_004168.4(SDHA):c.1260+23dup GRCh37: Chr5:235472-235473 GRCh38: Chr5:235357-235358	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Benign (Apr 29, 2022)	criteria provided, single submitter
Select item 209682387.	NM_004168.4(SDHA):c.880C>A (p.Gln294Lys) GRCh37: Chr5:231100 GRCh38: Chr5:230985	SDHA	Q294K, Q246K	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter
Select item 209479488.	NM_004168.4(SDHA):c.303T>C (p.Val101=) GRCh37: Chr5:224627 GRCh38: Chr5:224512	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 209437989.	NM_004168.4(SDHA):c.131C>G (p.Ser44Cys) GRCh37: Chr5:223664 GRCh38: Chr5:223549	SDHA	S44C	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (Feb 7, 2022)	criteria provided, single submitter
Select item 209437690.	NM_004168.4(SDHA):c.665T>C (p.Leu222Ser) GRCh37: Chr5:228343 GRCh38: Chr5:228228	SDHA	L174S, L222S	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 209409291.	NM_004168.4(SDHA):c.205G>T (p.Ala69Ser) GRCh37: Chr5:224529 GRCh38: Chr5:224414	SDHA	A69S	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 209294592.	NM_004168.4(SDHA):c.144A>G (p.Ser48=) GRCh37: Chr5:223677 GRCh38: Chr5:223562	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Likely benign (Aug 13, 2022)	criteria provided, single submitter
Select item 209169893.	NM_004168.4(SDHA):c.1600G>A (p.Glu534Lys) GRCh37: Chr5:251155 GRCh38: Chr5:251040	SDHA	E486K, E534K	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 208996994.	NM_004168.4(SDHA):c.220T>C (p.Leu74=) GRCh37: Chr5:224544 GRCh38: Chr5:224429	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Likely benign (Feb 23, 2022)	criteria provided, single submitter
Select item 208947495.	NM_004168.4(SDHA):c.1022A>G (p.Asp341Gly) GRCh37: Chr5:233718 GRCh38: Chr5:233603	SDHA	D341G, D293G	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 208744496.	NM_004168.4(SDHA):c.202G>A (p.Gly68Ser) GRCh37: Chr5:224526 GRCh38: Chr5:224411	SDHA	G68S	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (Jan 18, 2022)	criteria provided, single submitter
Select item 208665897.	NM_004168.4(SDHA):c.1608T>A (p.Cys536Ter) GRCh37: Chr5:251163 GRCh38: Chr5:251048	SDHA	C536, C488	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Pathogenic (Apr 3, 2022)	criteria provided, single submitter
Select item 208664998.	NM_004168.4(SDHA):c.1551+18C>A GRCh37: Chr5:240609 GRCh38: Chr5:240494	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Likely benign (Jan 17, 2022)	criteria provided, single submitter
Select item 208521399.	NM_004168.4(SDHA):c.364C>A (p.His122Asn) GRCh37: Chr5:225585 GRCh38: Chr5:225470	SDHA	H122N	Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Uncertain significance (Jan 16, 2022)	criteria provided, single submitter
Select item 2084273100.	NM_004168.4(SDHA):c.456+14G>A GRCh37: Chr5:225691 GRCh38: Chr5:225576	SDHA		Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5	Likely benign (Jan 15, 2022)	criteria provided, single submitter

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