TMEM127[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogen - ClinVar

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Items: 65

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1269731.	NM_017849.4(TMEM127):c.627_640dup (p.Met214fs) GRCh37: Chr2:96919622-96919623 GRCh38: Chr2:96253884-96253885	TMEM127	M214fs	Pheochromocytoma	Likely pathogenic	no assertion criteria provided
Select item 4865492.	NM_017849.4(TMEM127):c.570del (p.Thr191fs) GRCh37: Chr2:96919693 GRCh38: Chr2:96253955	TMEM127	T191fs	Hereditary pheochromocytoma-paraganglioma, Hereditary cancer-predisposing syndrome	Likely pathogenic (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9542933.	NM_017849.4(TMEM127):c.542_554del (p.Ala181fs) GRCh37: Chr2:96919709-96919721 GRCh38: Chr2:96253971-96253983	TMEM127	A181fs	Hereditary pheochromocytoma-paraganglioma	Pathogenic (Dec 24, 2021)	criteria provided, single submitter
Select item 4218744.	NM_017849.4(TMEM127):c.532dup (p.Tyr178fs) GRCh37: Chr2:96919730-96919731 GRCh38: Chr2:96253992-96253993	TMEM127	Y178fs	not provided, Hereditary pheochromocytoma-paraganglioma	Pathogenic/Likely pathogenic (Nov 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 8620475.	NM_017849.4(TMEM127):c.530del (p.Phe177fs) GRCh37: Chr2:96919733 GRCh38: Chr2:96253995	TMEM127	F177fs	Hereditary pheochromocytoma-paraganglioma	Pathogenic (Sep 22, 2022)	criteria provided, single submitter
Select item 9707106.	NM_017849.4(TMEM127):c.512delinsGCC (p.Val171fs) GRCh37: Chr2:96919751 GRCh38: Chr2:96254013	TMEM127	V171fs	Hereditary pheochromocytoma-paraganglioma	Likely pathogenic (Jul 4, 2019)	criteria provided, single submitter
Select item 6522907.	NM_017849.4(TMEM127):c.478C>T (p.Gln160Ter) GRCh37: Chr2:96919785 GRCh38: Chr2:96254047	TMEM127	Q160*	Hereditary pheochromocytoma-paraganglioma	Pathogenic (Mar 27, 2022)	criteria provided, single submitter
Select item 1088.	NM_017849.4(TMEM127):c.475C>T (p.Gln159Ter) GRCh37: Chr2:96919788 GRCh38: Chr2:96254050	TMEM127	Q159*	Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma-paraganglioma	Pathogenic (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 4638499.	NM_017849.4(TMEM127):c.469C>T (p.Gln157Ter) GRCh37: Chr2:96919794 GRCh38: Chr2:96254056	TMEM127	Q157*	Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma-paraganglioma	Pathogenic (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26527110.	NM_017849.4(TMEM127):c.464T>A (p.Leu155Ter) GRCh37: Chr2:96919799 GRCh38: Chr2:96254061	TMEM127	L155*	Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma-paraganglioma, not provided, Pheochromocytoma	Pathogenic/Likely pathogenic (Oct 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12697211.	NM_017849.4(TMEM127):c.447G>A (p.Trp149Ter) GRCh37: Chr2:96919816 GRCh38: Chr2:96254078	TMEM127	W149*	Pheochromocytoma	Likely pathogenic	no assertion criteria provided
Select item 12697112.	NM_017849.4(TMEM127):c.419G>A (p.Cys140Tyr) GRCh37: Chr2:96919844 GRCh38: Chr2:96254106	TMEM127	C140Y	Pheochromocytoma	Likely pathogenic	no assertion criteria provided
Select item 12697013.	NM_017849.4(TMEM127):c.418T>C (p.Cys140Arg) GRCh37: Chr2:96919845 GRCh38: Chr2:96254107	TMEM127	C140R	Pheochromocytoma	Likely pathogenic	no assertion criteria provided
Select item 44995414.	NM_017849.4(TMEM127):c.410-2A>G GRCh37: Chr2:96919855 GRCh38: Chr2:96254117	TMEM127		not provided, Hereditary pheochromocytoma-paraganglioma, Hereditary cancer-predisposing syndrome	Pathogenic/Likely pathogenic (Aug 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10715.	NM_017849.4(TMEM127):c.410-2A>C GRCh37: Chr2:96919855 GRCh38: Chr2:96254117	TMEM127		Hereditary pheochromocytoma-paraganglioma, Pheochromocytoma, Smith-Magenis syndrome	Pathogenic (Feb 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 173774316.	NM_017849.4(TMEM127):c.409+1_409+8del GRCh37: Chr2:96920563-96920570 GRCh38: Chr2:96254825-96254832	TMEM127		Hereditary cancer-predisposing syndrome	Likely pathogenic (Mar 18, 2021)	criteria provided, single submitter
Select item 106595717.	NM_017849.4(TMEM127):c.409+1G>C GRCh37: Chr2:96920570 GRCh38: Chr2:96254832	TMEM127		Hereditary pheochromocytoma-paraganglioma	Likely pathogenic (May 12, 2020)	criteria provided, single submitter
Select item 12696918.	NM_017849.4(TMEM127):c.409+1G>T GRCh37: Chr2:96920570 GRCh38: Chr2:96254832	TMEM127		Hereditary cancer-predisposing syndrome, Pheochromocytoma	Pathogenic/Likely pathogenic (Jan 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 57509919.	NM_017849.4(TMEM127):c.397del (p.His133fs) GRCh37: Chr2:96920583 GRCh38: Chr2:96254845	TMEM127	H133fs	Hereditary pheochromocytoma-paraganglioma, Pheochromocytoma	Pathogenic (May 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85104120.	NM_017849.4(TMEM127):c.383dup (p.Tyr129fs) GRCh37: Chr2:96920596-96920597 GRCh38: Chr2:96254858-96254859	TMEM127	Y129fs	Hereditary pheochromocytoma-paraganglioma	Pathogenic (Aug 25, 2021)	criteria provided, single submitter
Select item 209603021.	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 83478122.	NM_017849.4(TMEM127):c.370A>T (p.Lys124Ter) GRCh37: Chr2:96920610 GRCh38: Chr2:96254872	TMEM127	K124*	Hereditary pheochromocytoma-paraganglioma	Pathogenic (Feb 8, 2019)	criteria provided, single submitter
Select item 200297023.	NM_017849.4(TMEM127):c.347_348del (p.Phe116fs) GRCh37: Chr2:96920632-96920633 GRCh38: Chr2:96254894-96254895	TMEM127	F116fs	Hereditary pheochromocytoma-paraganglioma	Pathogenic (Jun 8, 2022)	criteria provided, single submitter
Select item 57599724.	NM_017849.4(TMEM127):c.337del (p.Leu113fs) GRCh37: Chr2:96920643 GRCh38: Chr2:96254905	TMEM127	L113fs	Hereditary pheochromocytoma-paraganglioma	Pathogenic (Aug 30, 2021)	criteria provided, single submitter
Select item 172983025.	NM_017849.4(TMEM127):c.328dup (p.Ala110fs) GRCh37: Chr2:96920651-96920652 GRCh38: Chr2:96254913-96254914	TMEM127	A110fs	Hereditary cancer-predisposing syndrome	Pathogenic (Mar 30, 2021)	criteria provided, single submitter
Select item 16544526.	NM_017849.4(TMEM127):c.308del (p.Gly103fs) GRCh37: Chr2:96920672 GRCh38: Chr2:96254934	TMEM127	G103fs	Hereditary pheochromocytoma-paraganglioma	Likely pathogenic (Apr 7, 2016)	criteria provided, single submitter
Select item 144602727.	NM_017849.4(TMEM127):c.291del (p.Ala98fs) GRCh37: Chr2:96920689 GRCh38: Chr2:96254951	TMEM127	A98fs	Hereditary pheochromocytoma-paraganglioma	Pathogenic (May 20, 2022)	criteria provided, single submitter
Select item 187948028.	NM_017849.4(TMEM127):c.278_288del (p.Leu93fs) GRCh37: Chr2:96920692-96920702 GRCh38: Chr2:96254954-96254964	TMEM127	L93fs	not provided	Pathogenic (Oct 1, 2022)	criteria provided, single submitter
Select item 46384329.	NM_017849.4(TMEM127):c.283del (p.Val95fs) GRCh37: Chr2:96920697 GRCh38: Chr2:96254959	TMEM127	V95fs	Hereditary pheochromocytoma-paraganglioma	Pathogenic (Jul 14, 2021)	criteria provided, single submitter
Select item 12696630.	NM_017849.4(TMEM127):c.265_268del (p.Thr89fs) GRCh37: Chr2:96920712-96920715 GRCh38: Chr2:96254974-96254977	TMEM127	T89fs	Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma-paraganglioma	Pathogenic (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 179403031.	NM_017849.4(TMEM127):c.262C>T (p.Gln88Ter) GRCh37: Chr2:96920718 GRCh38: Chr2:96254980	TMEM127	Q4, Q88	Hereditary cancer-predisposing syndrome	Pathogenic (Jul 15, 2022)	criteria provided, single submitter
Select item 14147132.	NM_017849.4(TMEM127):c.248del (p.Phe83fs) GRCh37: Chr2:96920732 GRCh38: Chr2:96254994	TMEM127	F83fs	Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma-paraganglioma	Pathogenic (Dec 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 179150133.	NM_017849.4(TMEM127):c.245-1G>A GRCh37: Chr2:96920736 GRCh38: Chr2:96254998	TMEM127		Hereditary cancer-predisposing syndrome	Pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 57121534.	NM_017849.4(TMEM127):c.245-1G>C GRCh37: Chr2:96920736 GRCh38: Chr2:96254998	TMEM127		Hereditary pheochromocytoma-paraganglioma, Hereditary cancer-predisposing syndrome, Pheochromocytoma	Pathogenic/Likely pathogenic (Sep 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10935.	NM_017849.4(TMEM127):c.245-1G>T GRCh37: Chr2:96920736 GRCh38: Chr2:96254998	TMEM127		Pheochromocytoma, Pheochromocytoma, susceptibility to	Likely pathogenic; risk factor (Mar 1, 2010)	no assertion criteria provided
Select item 106785236.	NM_017849.4(TMEM127):c.245-2A>G GRCh37: Chr2:96920737 GRCh38: Chr2:96254999	TMEM127		Hereditary pheochromocytoma-paraganglioma	Likely pathogenic (Sep 13, 2022)	criteria provided, single submitter
Select item 196008337.	NM_017849.4(TMEM127):c.244+2T>C GRCh37: Chr2:96930874 GRCh38: Chr2:96265136	TMEM127		Hereditary pheochromocytoma-paraganglioma	Likely pathogenic (Dec 23, 2021)	criteria provided, single submitter
Select item 244540038.	NM_017849.4(TMEM127):c.239T>C (p.Leu80Pro) GRCh37: Chr2:96930881 GRCh38: Chr2:96265143	TMEM127	L80P	Ovarian cancer	Likely pathogenic (Jan 1, 2022)	criteria provided, single submitter
Select item 178941339.	NM_017849.4(TMEM127):c.230del (p.Pro77fs) GRCh37: Chr2:96930890 GRCh38: Chr2:96265152	TMEM127	P77fs	Hereditary cancer-predisposing syndrome	Pathogenic (Jun 16, 2021)	criteria provided, single submitter
Select item 178839940.	NM_017849.4(TMEM127):c.224del (p.Val75fs) GRCh37: Chr2:96930896 GRCh38: Chr2:96265158	TMEM127	V75fs	Hereditary cancer-predisposing syndrome	Pathogenic (Dec 19, 2019)	criteria provided, single submitter
Select item 107678641.	NM_017849.4(TMEM127):c.218del (p.Gly73fs) GRCh37: Chr2:96930902 GRCh38: Chr2:96265164	TMEM127	G73fs	Hereditary pheochromocytoma-paraganglioma	Pathogenic (Jun 12, 2021)	criteria provided, single submitter
Select item 180411042.	NM_017849.4(TMEM127):c.208del (p.Asp70fs) GRCh37: Chr2:96930912 GRCh38: Chr2:96265174	TMEM127	D70fs	Pheochromocytoma	Likely pathogenic (Dec 9, 2022)	criteria provided, single submitter
Select item 137798843.	NM_017849.4(TMEM127):c.202dup (p.Val68fs) GRCh37: Chr2:96930917-96930918 GRCh38: Chr2:96265179-96265180	TMEM127	V68fs	Hereditary pheochromocytoma-paraganglioma	Pathogenic (Jul 6, 2022)	criteria provided, single submitter
Select item 46383944.	NM_017849.4(TMEM127):c.158G>A (p.Trp53Ter) GRCh37: Chr2:96930962 GRCh38: Chr2:96265224	TMEM127	W53*	Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma-paraganglioma	Pathogenic (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 11045.	NM_017849.4(TMEM127):c.149dup (p.Pro51fs) GRCh37: Chr2:96930970-96930971 GRCh38: Chr2:96265232-96265233	TMEM127	P51fs	Pheochromocytoma, Pheochromocytoma, susceptibility to	Likely pathogenic; risk factor (Mar 1, 2010)	no assertion criteria provided
Select item 46383546.	NM_017849.4(TMEM127):c.124_125del (p.Thr42fs) GRCh37: Chr2:96930995-96930996 GRCh38: Chr2:96265257-96265258	TMEM127	T42fs	Hereditary pheochromocytoma-paraganglioma	Pathogenic (Apr 22, 2017)	criteria provided, single submitter
Select item 174990747.	NM_017849.4(TMEM127):c.120dup (p.Ile41fs) GRCh37: Chr2:96930999-96931000 GRCh38: Chr2:96265261-96265262	TMEM127	I41fs	Hereditary cancer-predisposing syndrome	Pathogenic (Dec 29, 2015)	criteria provided, single submitter
Select item 39751148.	NM_017849.4(TMEM127):c.117_120del (p.Ile41fs) GRCh37: Chr2:96931000-96931003 GRCh38: Chr2:96265262-96265265	TMEM127	I41fs	Hereditary cancer-predisposing syndrome, not provided, Hereditary pheochromocytoma-paraganglioma, Pheochromocytoma	Pathogenic (Mar 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 197780149.	NM_017849.4(TMEM127):c.82G>T (p.Glu28Ter) GRCh37: Chr2:96931038 GRCh38: Chr2:96265300	TMEM127	E28*	Hereditary pheochromocytoma-paraganglioma	Pathogenic (Mar 17, 2022)	criteria provided, single submitter
Select item 12697450.	NM_017849.4(TMEM127):c.76C>T (p.Gln26Ter) GRCh37: Chr2:96931044 GRCh38: Chr2:96265306	TMEM127	Q26*	Pheochromocytoma	Likely pathogenic	no assertion criteria provided
Select item 82702051.	NM_017849.4(TMEM127):c.73A>T (p.Lys25Ter) GRCh37: Chr2:96931047 GRCh38: Chr2:96265309	TMEM127	K25*	Hereditary pheochromocytoma-paraganglioma, Hereditary cancer-predisposing syndrome	Pathogenic (Jun 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 62414352.	NM_017849.4(TMEM127):c.49_52del (p.Ser17fs) GRCh37: Chr2:96931068-96931071 GRCh38: Chr2:96265330-96265333	TMEM127	S17fs	not provided	Likely pathogenic (Sep 1, 2018)	criteria provided, single submitter
Select item 145131453.	NM_017849.4(TMEM127):c.24_48del (p.Leu9fs) GRCh37: Chr2:96931072-96931096 GRCh38: Chr2:96265334-96265358	TMEM127	L9fs	Hereditary pheochromocytoma-paraganglioma	Pathogenic (Apr 13, 2021)	criteria provided, single submitter
Select item 107059554.	NM_017849.4(TMEM127):c.24del (p.Leu9fs) GRCh37: Chr2:96931096 GRCh38: Chr2:96265358	TMEM127	L9fs	Hereditary pheochromocytoma-paraganglioma	Pathogenic (Sep 8, 2020)	criteria provided, single submitter
Select item 106903855.	NM_017849.4(TMEM127):c.12del (p.Gly5fs) GRCh37: Chr2:96931108 GRCh38: Chr2:96265370	TMEM127	G5fs	Hereditary pheochromocytoma-paraganglioma	Pathogenic (Jun 13, 2020)	criteria provided, single submitter
Select item 56993756.	NM_017849.4(TMEM127):c.7del (p.Ala3fs) GRCh37: Chr2:96931113 GRCh38: Chr2:96265375	TMEM127	A3fs	Hereditary pheochromocytoma-paraganglioma	Pathogenic (Apr 15, 2020)	criteria provided, single submitter
Select item 53251457.	NM_017849.4(TMEM127):c.3G>A (p.Met1Ile) GRCh37: Chr2:96931117 GRCh38: Chr2:96265379	TMEM127	M1I	Hereditary pheochromocytoma-paraganglioma	Pathogenic (Feb 25, 2022)	criteria provided, single submitter
Select item 12696858.	NM_017849.4(TMEM127):c.3G>T (p.Met1Ile) GRCh37: Chr2:96931117 GRCh38: Chr2:96265379	TMEM127	M1I	Hereditary cancer-predisposing syndrome	Pathogenic (Nov 6, 2017)	criteria provided, single submitter
Select item 145272759.	NM_017849.4(TMEM127):c.2T>A (p.Met1Lys) GRCh37: Chr2:96931118 GRCh38: Chr2:96265380	TMEM127	M1K	Hereditary pheochromocytoma-paraganglioma	Pathogenic (Jul 1, 2021)	criteria provided, single submitter
Select item 85716860.	NM_017849.4(TMEM127):c.2T>G (p.Met1Arg) GRCh37: Chr2:96931118 GRCh38: Chr2:96265380	TMEM127	M1R	Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma-paraganglioma	Pathogenic/Likely pathogenic (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94968561.	NM_017849.4(TMEM127):c.1A>T (p.Met1Leu) GRCh37: Chr2:96931119 GRCh38: Chr2:96265381	TMEM127	M1L	Hereditary pheochromocytoma-paraganglioma	Pathogenic (Jul 6, 2022)	criteria provided, single submitter
Select item 12696162.	NM_017849.4(TMEM127):c.-18C>T GRCh37: Chr2:96931137 GRCh38: Chr2:96265399	TMEM127		Pheochromocytoma	Likely pathogenic	no assertion criteria provided
Select item 145872763.	NC_000002.11:g.(?_96930866)_(96931137_?)del GRCh37: Chr2:96930866-96931137	TMEM127		Hereditary pheochromocytoma-paraganglioma	Pathogenic (Apr 8, 2021)	criteria provided, single submitter
Select item 145657964.	NC_000002.11:g.(?_96919546)_(96920745_?)del GRCh37: Chr2:96919546-96920745	TMEM127		Hereditary pheochromocytoma-paraganglioma	Pathogenic (Sep 7, 2022)	criteria provided, single submitter
Select item 83238465.	NC_000002.12:g.(?_96253808)_(96265399_?)del GRCh37: Chr2:96919546-96931137	TMEM127		Hereditary pheochromocytoma-paraganglioma	Pathogenic (Oct 2, 2022)	criteria provided, single submitter

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Items: 65