ClinVar for MedGen (Select 313270) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24263641.	NC_000002.11:g.(?_96930856)_(96931119_?)dup GRCh37: Chr2:96930856-96931119	TMEM127		Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Oct 23, 2022)	criteria provided, single submitter
Select item 24263632.	NC_000011.9:g.(?_61197619)_(61552680_?)del GRCh37: Chr11:61197619-61552680	PPP1R32, SYT7, DAGLA, MYRF, SDHAF2, LRRC10B		Hereditary pheochromocytoma-paraganglioma	Pathogenic (Jan 23, 2022)	criteria provided, single submitter
Select item 24244273.	NC_000014.8:g.(?_65568254)_(65569057_?)dup GRCh37: Chr14:65568254-65569057	MAX		Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 24208904.	NM_017841.4(SDHAF2):c.69T>C (p.Ser23=) GRCh37: Chr11:61205129 GRCh38: Chr11:61437657	SDHAF2		Hereditary pheochromocytoma-paraganglioma	Likely benign (Apr 26, 2022)	criteria provided, single submitter
Select item 24156575.	NM_002382.5(MAX):c.296-20C>T GRCh37: Chr14:65543401 GRCh38: Chr14:65076683	MAX		Hereditary pheochromocytoma-paraganglioma	Likely benign (Jul 4, 2022)	criteria provided, single submitter
Select item 24155486.	NM_017849.4(TMEM127):c.685C>A (p.Gln229Lys) GRCh37: Chr2:96919578 GRCh38: Chr2:96253840	TMEM127	Q145K, Q229K	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Sep 22, 2022)	criteria provided, single submitter
Select item 24154967.	NM_017849.4(TMEM127):c.332T>C (p.Phe111Ser) GRCh37: Chr2:96920648 GRCh38: Chr2:96254910	TMEM127	F111S, F27S	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 24148388.	NM_017841.4(SDHAF2):c.435A>G (p.Lys145=) GRCh37: Chr11:61213477 GRCh38: Chr11:61446005	SDHAF2		Hereditary pheochromocytoma-paraganglioma	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 24138559.	NM_017849.4(TMEM127):c.104T>C (p.Leu35Pro) GRCh37: Chr2:96931016 GRCh38: Chr2:96265278	TMEM127	L35P	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 241346410.	NM_002382.5(MAX):c.125G>A (p.Ser42Asn) GRCh37: Chr14:65560472 GRCh38: Chr14:65093754	MAX, LOC100506321	A50T, S33N, S42N	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Sep 8, 2022)	criteria provided, single submitter
Select item 241339511.	NM_017849.4(TMEM127):c.17G>T (p.Gly6Val) GRCh37: Chr2:96931103 GRCh38: Chr2:96265365	TMEM127	G6V	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Jul 4, 2022)	criteria provided, single submitter
Select item 220134312.	NM_017849.4(TMEM127):c.44G>A (p.Arg15Gln) GRCh37: Chr2:96931076 GRCh38: Chr2:96265338	TMEM127	R15Q	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Aug 25, 2022)	criteria provided, single submitter
Select item 219916613.	NM_017849.4(TMEM127):c.245-12C>T GRCh37: Chr2:96920747 GRCh38: Chr2:96255009	TMEM127		Hereditary pheochromocytoma-paraganglioma	Likely benign (Apr 13, 2022)	criteria provided, single submitter
Select item 219889814.	NM_017849.4(TMEM127):c.244+13C>T GRCh37: Chr2:96930863 GRCh38: Chr2:96265125	TMEM127		Hereditary pheochromocytoma-paraganglioma	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 219721215.	NM_017841.4(SDHAF2):c.36+12G>A GRCh37: Chr11:61197666 GRCh38: Chr11:61430194	SDHAF2		Hereditary pheochromocytoma-paraganglioma	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 219538516.	NM_017849.4(TMEM127):c.698C>A (p.Pro233His) GRCh37: Chr2:96919565 GRCh38: Chr2:96253827	TMEM127	P233H, P149H	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Sep 24, 2022)	criteria provided, single submitter
Select item 219061417.	NM_017841.4(SDHAF2):c.37-20T>G GRCh37: Chr11:61205077 GRCh38: Chr11:61437605	SDHAF2		Hereditary pheochromocytoma-paraganglioma	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 218818718.	NM_017849.4(TMEM127):c.120T>C (p.Ser40=) GRCh37: Chr2:96931000 GRCh38: Chr2:96265262	TMEM127		Hereditary pheochromocytoma-paraganglioma	Likely benign (Feb 23, 2022)	criteria provided, single submitter
Select item 218668419.	NM_017849.4(TMEM127):c.216G>A (p.Leu72=) GRCh37: Chr2:96930904 GRCh38: Chr2:96265166	TMEM127		Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Jan 23, 2022)	criteria provided, single submitter
Select item 218424620.	NM_017841.4(SDHAF2):c.497G>T (p.Arg166Leu) GRCh37: Chr11:61213539 GRCh38: Chr11:61446067	SDHAF2	R166L	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 217855721.	NM_002382.5(MAX):c.436C>T (p.Pro146Ser) GRCh37: Chr14:65543241 GRCh38: Chr14:65076523	MAX	P137S, P110S, P79S, P83S, P146S	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 217749422.	NM_017841.4(SDHAF2):c.9G>C (p.Val3=) GRCh37: Chr11:61197627 GRCh38: Chr11:61430155	SDHAF2		Hereditary pheochromocytoma-paraganglioma	Likely benign (Apr 20, 2022)	criteria provided, single submitter
Select item 217391823.	NM_017849.4(TMEM127):c.163C>T (p.His55Tyr) GRCh37: Chr2:96930957 GRCh38: Chr2:96265219	TMEM127	H55Y	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Jan 17, 2022)	criteria provided, single submitter
Select item 217023124.	NM_002382.5(MAX):c.266A>C (p.Lys89Thr) GRCh37: Chr14:65544660 GRCh38: Chr14:65077942	MAX	K53T, K80T, K89T	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 215844825.	NM_017841.4(SDHAF2):c.32C>A (p.Ser11Ter) GRCh37: Chr11:61197650 GRCh38: Chr11:61430178	SDHAF2	S11*	Hereditary pheochromocytoma-paraganglioma	Pathogenic (Aug 25, 2022)	criteria provided, single submitter
Select item 215498226.	NM_017841.4(SDHAF2):c.261-19_261-16del GRCh37: Chr11:61205454-61205457 GRCh38: Chr11:61437982-61437985	SDHAF2		Hereditary pheochromocytoma-paraganglioma	Benign (Sep 18, 2022)	criteria provided, single submitter
Select item 215255527.	NM_002382.5(MAX):c.63+9C>G GRCh37: Chr14:65568255 GRCh38: Chr14:65101537	MAX		Hereditary pheochromocytoma-paraganglioma	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 215241028.	NM_017841.4(SDHAF2):c.270T>C (p.Ala90=) GRCh37: Chr11:61205485 GRCh38: Chr11:61438013	SDHAF2		Hereditary pheochromocytoma-paraganglioma	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 215104929.	NM_017849.4(TMEM127):c.191A>G (p.Gln64Arg) GRCh37: Chr2:96930929 GRCh38: Chr2:96265191	TMEM127	Q64R	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Feb 13, 2022)	criteria provided, single submitter
Select item 215097830.	NM_017849.4(TMEM127):c.245-15G>C GRCh37: Chr2:96920750 GRCh38: Chr2:96255012	TMEM127		Hereditary pheochromocytoma-paraganglioma	Likely benign (May 26, 2022)	criteria provided, single submitter
Select item 215035231.	NM_017841.4(SDHAF2):c.260+14A>T GRCh37: Chr11:61205334 GRCh38: Chr11:61437862	SDHAF2		Hereditary pheochromocytoma-paraganglioma	Likely benign (Jan 15, 2022)	criteria provided, single submitter
Select item 214924332.	NM_017841.4(SDHAF2):c.21C>A (p.Phe7Leu) GRCh37: Chr11:61197639 GRCh38: Chr11:61430167	SDHAF2	F7L	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 214784533.	NM_002382.5(MAX):c.295+11G>T GRCh37: Chr14:65544620 GRCh38: Chr14:65077902	MAX		Hereditary pheochromocytoma-paraganglioma	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 214621034.	NM_017849.4(TMEM127):c.577G>A (p.Ala193Thr) GRCh37: Chr2:96919686 GRCh38: Chr2:96253948	TMEM127	A193T, A109T	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 214143735.	NM_017841.4(SDHAF2):c.477G>A (p.Glu159=) GRCh37: Chr11:61213519 GRCh38: Chr11:61446047	SDHAF2		Hereditary pheochromocytoma-paraganglioma	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 214078836.	NM_017849.4(TMEM127):c.79C>T (p.Pro27Ser) GRCh37: Chr2:96931041 GRCh38: Chr2:96265303	TMEM127	P27S	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Oct 21, 2022)	criteria provided, single submitter
Select item 213929237.	NM_017841.4(SDHAF2):c.371-9C>G GRCh37: Chr11:61213404 GRCh38: Chr11:61445932	SDHAF2		Hereditary pheochromocytoma-paraganglioma	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 213928738.	NM_002382.5(MAX):c.148G>A (p.Val50Ile) GRCh37: Chr14:65560449 GRCh38: Chr14:65093731	MAX, LOC100506321	V41I, V50I	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 213759639.	NM_002382.5(MAX):c.305T>C (p.Leu102Pro) GRCh37: Chr14:65543372 GRCh38: Chr14:65076654	MAX	L35P, L93P, L102P, L66P, L39P	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Aug 24, 2022)	criteria provided, single submitter
Select item 213529440.	NM_017849.4(TMEM127):c.244+6G>A GRCh37: Chr2:96930870 GRCh38: Chr2:96265132	TMEM127		Hereditary pheochromocytoma-paraganglioma	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 213395441.	NM_002382.5(MAX):c.348C>T (p.Pro116=) GRCh37: Chr14:65543329 GRCh38: Chr14:65076611	MAX		Hereditary pheochromocytoma-paraganglioma	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 213096942.	NM_017849.4(TMEM127):c.394G>T (p.Ala132Ser) GRCh37: Chr2:96920586 GRCh38: Chr2:96254848	TMEM127	A48S, A132S	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Apr 27, 2022)	criteria provided, single submitter
Select item 212991843.	NM_017841.4(SDHAF2):c.36+14A>T GRCh37: Chr11:61197668 GRCh38: Chr11:61430196	SDHAF2		Hereditary pheochromocytoma-paraganglioma	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 212657344.	NM_017841.4(SDHAF2):c.178G>A (p.Asp60Asn) GRCh37: Chr11:61205238 GRCh38: Chr11:61437766	SDHAF2	D60N	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 212586745.	NM_002382.5(MAX):c.183_195del (p.Gln62fs) GRCh37: Chr14:65544731-65544743 GRCh38: Chr14:65078013-65078025	MAX	Q53fs, Q62fs	Hereditary pheochromocytoma-paraganglioma	Pathogenic (Apr 13, 2022)	criteria provided, single submitter
Select item 212100946.	NM_002382.5(MAX):c.189C>A (p.Ile63=) GRCh37: Chr14:65544737 GRCh38: Chr14:65078019	MAX		Hereditary pheochromocytoma-paraganglioma	Likely benign (Apr 3, 2022)	criteria provided, single submitter
Select item 212099347.	NM_017841.4(SDHAF2):c.410T>C (p.Met137Thr) GRCh37: Chr11:61213452 GRCh38: Chr11:61445980	SDHAF2	M137T	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 211911548.	NM_017841.4(SDHAF2):c.370+19A>C GRCh37: Chr11:61205604 GRCh38: Chr11:61438132	SDHAF2		Hereditary pheochromocytoma-paraganglioma	Likely benign (Mar 28, 2022)	criteria provided, single submitter
Select item 211855949.	NM_002382.5(MAX):c.36+13dup GRCh37: Chr14:65569008-65569009 GRCh38: Chr14:65102290-65102291	MAX		Hereditary pheochromocytoma-paraganglioma	Likely benign (Nov 3, 2022)	criteria provided, single submitter
Select item 211751650.	NM_017849.4(TMEM127):c.410-9G>A GRCh37: Chr2:96919862 GRCh38: Chr2:96254124	TMEM127		Hereditary pheochromocytoma-paraganglioma	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 211747551.	NM_017849.4(TMEM127):c.352C>T (p.Pro118Ser) GRCh37: Chr2:96920628 GRCh38: Chr2:96254890	TMEM127	P118S, P34S	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 211744952.	NM_017849.4(TMEM127):c.11C>T (p.Pro4Leu) GRCh37: Chr2:96931109 GRCh38: Chr2:96265371	TMEM127	P4L	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Jun 18, 2022)	criteria provided, single submitter
Select item 211691153.	NM_002382.5(MAX):c.444G>A (p.Glu148=) GRCh37: Chr14:65543233 GRCh38: Chr14:65076515	MAX		Hereditary pheochromocytoma-paraganglioma	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 211635654.	NM_017841.4(SDHAF2):c.184T>C (p.Ser62Pro) GRCh37: Chr11:61205244 GRCh38: Chr11:61437772	SDHAF2	S62P	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 211596555.	NM_017841.4(SDHAF2):c.488A>C (p.Glu163Ala) GRCh37: Chr11:61213530 GRCh38: Chr11:61446058	SDHAF2	E163A	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 211591256.	NM_002382.5(MAX):c.269G>C (p.Arg90Pro) GRCh37: Chr14:65544657 GRCh38: Chr14:65077939	MAX	R54P, R81P, R90P	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 211289657.	NM_017849.4(TMEM127):c.305T>G (p.Leu102Arg) GRCh37: Chr2:96920675 GRCh38: Chr2:96254937	TMEM127	L18R, L102R	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Mar 16, 2022)	criteria provided, single submitter
Select item 210792658.	NM_017849.4(TMEM127):c.409+11A>G GRCh37: Chr2:96920560 GRCh38: Chr2:96254822	TMEM127		Hereditary pheochromocytoma-paraganglioma	Likely benign (Mar 9, 2022)	criteria provided, single submitter
Select item 210417359.	NM_017841.4(SDHAF2):c.214T>C (p.Tyr72His) GRCh37: Chr11:61205274 GRCh38: Chr11:61437802	SDHAF2	Y72H	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 210346460.	NM_002382.5(MAX):c.438T>A (p.Pro146=) GRCh37: Chr14:65543239 GRCh38: Chr14:65076521	MAX		Hereditary pheochromocytoma-paraganglioma	Likely benign (Feb 25, 2022)	criteria provided, single submitter
Select item 210246161.	NM_017841.4(SDHAF2):c.88T>C (p.Ser30Pro) GRCh37: Chr11:61205148 GRCh38: Chr11:61437676	SDHAF2	S30P	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 209877762.	NM_017849.4(TMEM127):c.185C>G (p.Ser62Trp) GRCh37: Chr2:96930935 GRCh38: Chr2:96265197	TMEM127	S62W	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 209702463.	NM_002382.5(MAX):c.414G>C (p.Ser138=) GRCh37: Chr14:65543263 GRCh38: Chr14:65076545	MAX		Hereditary pheochromocytoma-paraganglioma	Likely benign (Feb 28, 2022)	criteria provided, single submitter
Select item 209603064.	NM_017849.4(TMEM127):c.379del (p.Arg127fs) GRCh37: Chr2:96920601 GRCh38: Chr2:96254863	TMEM127	R127fs	Hereditary pheochromocytoma-paraganglioma	Pathogenic (Feb 10, 2022)	criteria provided, single submitter
Select item 209581965.	NM_017849.4(TMEM127):c.338T>C (p.Leu113Pro) GRCh37: Chr2:96920642 GRCh38: Chr2:96254904	TMEM127	L29P, L113P	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 209302966.	NM_002382.5(MAX):c.473A>G (p.Glu158Gly) GRCh37: Chr14:65543204 GRCh38: Chr14:65076486	MAX	E149G, E91G, E158G, E122G, E95G	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 209300067.	NM_017849.4(TMEM127):c.449C>T (p.Ala150Val) GRCh37: Chr2:96919814 GRCh38: Chr2:96254076	TMEM127	A150V, A66V	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 209226168.	NM_002382.5(MAX):c.171+5G>A GRCh37: Chr14:65560421 GRCh38: Chr14:65093703	LOC100506321, MAX		Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 208980069.	NM_017841.4(SDHAF2):c.263T>C (p.Leu88Pro) GRCh37: Chr11:61205478 GRCh38: Chr11:61438006	SDHAF2	L88P	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 208941370.	NM_002382.5(MAX):c.310A>T (p.Lys104Ter) GRCh37: Chr14:65543367 GRCh38: Chr14:65076649	MAX	K68, K104, K95, K37, K41*	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 208939471.	NM_017841.4(SDHAF2):c.228G>C (p.Lys76Asn) GRCh37: Chr11:61205288 GRCh38: Chr11:61437816	SDHAF2	K76N	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 208794372.	NM_002382.5(MAX):c.230A>G (p.Lys77Arg) GRCh37: Chr14:65544696 GRCh38: Chr14:65077978	MAX	K77R, K68R, K41R	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 208619273.	NM_017841.4(SDHAF2):c.480C>G (p.Tyr160Ter) GRCh37: Chr11:61213522 GRCh38: Chr11:61446050	SDHAF2	Y160*	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 208595174.	NM_002382.5(MAX):c.387C>T (p.Ser129=) GRCh37: Chr14:65543290 GRCh38: Chr14:65076572	MAX		Hereditary pheochromocytoma-paraganglioma	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 208440375.	NM_017841.4(SDHAF2):c.268G>C (p.Ala90Pro) GRCh37: Chr11:61205483 GRCh38: Chr11:61438011	SDHAF2	A90P	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 208015476.	NM_017841.4(SDHAF2):c.273A>G (p.Lys91=) GRCh37: Chr11:61205488 GRCh38: Chr11:61438016	SDHAF2		Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma-paraganglioma	Likely benign (Feb 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 207536577.	NM_017841.4(SDHAF2):c.247T>C (p.Cys83Arg) GRCh37: Chr11:61205307 GRCh38: Chr11:61437835	SDHAF2	C83R	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Feb 5, 2022)	criteria provided, single submitter
Select item 207042378.	NM_017841.4(SDHAF2):c.283C>T (p.Gln95Ter) GRCh37: Chr11:61205498 GRCh38: Chr11:61438026	SDHAF2	Q95*	Hereditary pheochromocytoma-paraganglioma	Pathogenic (Feb 9, 2022)	criteria provided, single submitter
Select item 206992479.	NM_002382.5(MAX):c.64-19C>A GRCh37: Chr14:65560552 GRCh38: Chr14:65093834	LOC100506321, MAX		Hereditary pheochromocytoma-paraganglioma	Likely benign (May 31, 2022)	criteria provided, single submitter
Select item 206715180.	NM_017849.4(TMEM127):c.410-14_410-13dup GRCh37: Chr2:96919865-96919866 GRCh38: Chr2:96254127-96254128	TMEM127		Hereditary pheochromocytoma-paraganglioma	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 206609381.	NM_017841.4(SDHAF2):c.416T>C (p.Leu139Pro) GRCh37: Chr11:61213458 GRCh38: Chr11:61445986	SDHAF2	L139P	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Aug 27, 2022)	criteria provided, single submitter
Select item 206397782.	NM_017841.4(SDHAF2):c.5C>T (p.Ala2Val) GRCh37: Chr11:61197623 GRCh38: Chr11:61430151	SDHAF2	A2V	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 206395683.	NM_017849.4(TMEM127):c.554G>A (p.Gly185Glu) GRCh37: Chr2:96919709 GRCh38: Chr2:96253971	TMEM127	G101E, G185E	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 206286084.	NM_017849.4(TMEM127):c.425C>A (p.Thr142Asn) GRCh37: Chr2:96919838 GRCh38: Chr2:96254100	TMEM127	T58N, T142N	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 205744685.	NM_002382.5(MAX):c.46C>G (p.Pro16Ala) GRCh37: Chr14:65568281 GRCh38: Chr14:65101563	MAX	N23K, P16A	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 205725786.	NM_017841.4(SDHAF2):c.367A>C (p.Thr123Pro) GRCh37: Chr11:61205582 GRCh38: Chr11:61438110	SDHAF2	T123P	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 205622187.	NM_002382.5(MAX):c.33C>T (p.Ser11=) GRCh37: Chr14:65569025 GRCh38: Chr14:65102307	MAX		Hereditary pheochromocytoma-paraganglioma	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 205564288.	NM_017841.4(SDHAF2):c.19T>C (p.Phe7Leu) GRCh37: Chr11:61197637 GRCh38: Chr11:61430165	SDHAF2	F7L	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Mar 5, 2022)	criteria provided, single submitter
Select item 205467989.	NM_017841.4(SDHAF2):c.184T>G (p.Ser62Ala) GRCh37: Chr11:61205244 GRCh38: Chr11:61437772	SDHAF2	S62A	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 205008990.	NM_017849.4(TMEM127):c.244+16G>C GRCh37: Chr2:96930860 GRCh38: Chr2:96265122	TMEM127		Hereditary pheochromocytoma-paraganglioma	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 204889591.	NM_002382.5(MAX):c.295+9C>T GRCh37: Chr14:65544622 GRCh38: Chr14:65077904	MAX		Hereditary pheochromocytoma-paraganglioma	Likely benign (Mar 8, 2022)	criteria provided, single submitter
Select item 204873392.	NM_002382.5(MAX):c.64-16dup GRCh37: Chr14:65560548-65560549 GRCh38: Chr14:65093830-65093831	LOC100506321, MAX		Hereditary pheochromocytoma-paraganglioma	Likely benign (Mar 6, 2022)	criteria provided, single submitter
Select item 204727793.	NM_017849.4(TMEM127):c.697C>T (p.Pro233Ser) GRCh37: Chr2:96919566 GRCh38: Chr2:96253828	TMEM127	P149S, P233S	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 204381394.	NM_017849.4(TMEM127):c.226C>T (p.His76Tyr) GRCh37: Chr2:96930894 GRCh38: Chr2:96265156	TMEM127	H76Y	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 204095195.	NM_017849.4(TMEM127):c.121A>T (p.Ile41Phe) GRCh37: Chr2:96930999 GRCh38: Chr2:96265261	TMEM127	I41F	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Mar 17, 2022)	criteria provided, single submitter
Select item 203626996.	NM_017849.4(TMEM127):c.708C>G (p.Tyr236Ter) GRCh37: Chr2:96919555 GRCh38: Chr2:96253817	TMEM127	Y152, Y236	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Oct 20, 2022)	criteria provided, single submitter
Select item 203595297.	NM_017849.4(TMEM127):c.715T>A (p.Ter239Lys) GRCh37: Chr2:96919548 GRCh38: Chr2:96253810	TMEM127		Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 203361398.	NM_017841.4(SDHAF2):c.37-5T>C GRCh37: Chr11:61205092 GRCh38: Chr11:61437620	SDHAF2		Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 203353099.	NM_017841.4(SDHAF2):c.261-16T>C GRCh37: Chr11:61205460 GRCh38: Chr11:61437988	SDHAF2		Hereditary pheochromocytoma-paraganglioma	Likely benign (Sep 30, 2022)	criteria provided, single submitter
Select item 2032197100.	NM_017849.4(TMEM127):c.539dup (p.Ala181fs) GRCh37: Chr2:96919723-96919724 GRCh38: Chr2:96253985-96253986	TMEM127	A181fs	Hereditary pheochromocytoma-paraganglioma	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter

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