"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "TMEM127 - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 241220	NC_000002.12:g.(?_96250208)_(96265512_?)del	LOC110121224, LOC129934333 +1 more	Deletion	Hereditary pheochromocytoma-paraganglioma	GPathogenic
Select item 646406	NC_000002.11:g.(?_96919536)_(96931129_?)dup	LOC110121224, LOC129934333 +1 more	Duplication	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 584288	NC_000002.12:g.(?_96253798)_(96265391_?)del	LOC110121224, LOC129934333 +1 more	Deletion	Hereditary pheochromocytoma-paraganglioma	GPathogenic
Select item 463801	NC_000002.11:g.(?_96919540)_(96931125_?)dup	LOC110121224, LOC129934333 +1 more	Duplication	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2749626	NM_017849.4(TMEM127):c.717A>C (p.Ter239Tyr)	TMEM127	Single nucleotide variant (stop lost)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2035952	NM_017849.4(TMEM127):c.715T>A (p.Ter239Lys)	TMEM127	Single nucleotide variant (stop lost)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2702380	NM_017849.4(TMEM127):c.714C>T (p.Pro238=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 1511619	NM_017849.4(TMEM127):c.712C>T (p.Pro238Ser)	TMEM127 (P238S)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 575095	NM_017849.4(TMEM127):c.712C>A (p.Pro238Thr)	TMEM127 (P238T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1637207	NM_017849.4(TMEM127):c.711A>G (p.Thr237=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1968867	NM_017849.4(TMEM127):c.710C>T (p.Thr237Ile)	TMEM127 (T153I +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2036269	NM_017849.4(TMEM127):c.708C>G (p.Tyr236Ter)	TMEM127 (Y152* +1 more)	Single nucleotide variant (nonsense)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 1610244	NM_017849.4(TMEM127):c.708C>T (p.Tyr236=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GLikely benign
Select item 1949452	NM_017849.4(TMEM127):c.703G>C (p.Ala235Pro)	TMEM127 (A151P +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2871195	NM_017849.4(TMEM127):c.701dup (p.Ala235fs)	TMEM127 (A151fs +1 more)	Duplication (frameshift variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 1355948	NM_017849.4(TMEM127):c.702del (p.Ala235fs)	TMEM127 (A235fs)	Deletion (frameshift variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 953758	NM_017849.4(TMEM127):c.700C>A (p.Pro234Thr)	TMEM127 (P234T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 826772	NM_017849.4(TMEM127):c.700C>G (p.Pro234Ala)	TMEM127 (P234A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 2898040	NM_017849.4(TMEM127):c.699C>G (p.Pro233=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2195385	NM_017849.4(TMEM127):c.698C>A (p.Pro233His)	TMEM127 (P233H +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2047277	NM_017849.4(TMEM127):c.697C>T (p.Pro233Ser)	TMEM127 (P149S +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 1756313	NM_017849.4(TMEM127):c.695C>A (p.Pro232Gln)	TMEM127 (P148Q +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 942472	NM_017849.4(TMEM127):c.694C>T (p.Pro232Ser)	TMEM127 (P232S)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 962522	NM_017849.4(TMEM127):c.693G>C (p.Gln231His)	TMEM127 (Q231H)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 1088175	NM_017849.4(TMEM127):c.690C>T (p.Phe230=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GLikely benign
Select item 837449	NM_017849.4(TMEM127):c.690C>G (p.Phe230Leu)	TMEM127 (F230L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2415548	NM_017849.4(TMEM127):c.685C>A (p.Gln229Lys)	TMEM127 (Q145K +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 1755777	NM_017849.4(TMEM127):c.684C>T (p.Asn228=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GLikely benign
Select item 1911220	NM_017849.4(TMEM127):c.679A>G (p.Ile227Val)	TMEM127 (I143V +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 960226	NM_017849.4(TMEM127):c.679A>T (p.Ile227Phe)	TMEM127 (I227F)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2793263	NM_017849.4(TMEM127):c.677T>C (p.Val226Ala)	TMEM127 (V226A +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1502502	NM_017849.4(TMEM127):c.675G>C (p.Glu225Asp)	TMEM127 (E225D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1479701	NM_017849.4(TMEM127):c.674del (p.Glu225fs)	TMEM127 (E225fs)	Deletion (frameshift variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 935490	NM_017849.4(TMEM127):c.674A>G (p.Glu225Gly)	TMEM127 (E225G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 413245	NM_017849.4(TMEM127):c.672T>C (p.Tyr224=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GLikely benign
Select item 405197	NM_017849.4(TMEM127):c.671A>G (p.Tyr224Cys)	TMEM127 (Y224C)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2624739	NM_017849.4(TMEM127):c.669A>G (p.Glu223=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 655845	NM_017849.4(TMEM127):c.669A>T (p.Glu223Asp)	TMEM127 (E223D)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 532524	NM_017849.4(TMEM127):c.667G>A (p.Glu223Lys)	TMEM127 (E223K)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 413237	NM_017849.4(TMEM127):c.666G>A (p.Ala222=)	TMEM127	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 405200	NM_017849.4(TMEM127):c.665C>T (p.Ala222Val)	TMEM127 (A222V)	Single nucleotide variant (missense variant)	Pheochromocytoma +4 more	GConflicting classifications of pathogenicity
Select item 2907988	NM_017849.4(TMEM127):c.664G>A (p.Ala222Thr)	TMEM127 (A138T +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2802991	NM_017849.4(TMEM127):c.664G>T (p.Ala222Ser)	TMEM127 (A222S +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 463855	NM_017849.4(TMEM127):c.663G>A (p.Pro221=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GLikely benign
Select item 648969	NM_017849.4(TMEM127):c.662C>T (p.Pro221Leu)	TMEM127 (P221L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2004913	NM_017849.4(TMEM127):c.661C>G (p.Pro221Ala)	TMEM127 (P137A +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1482153	NM_017849.4(TMEM127):c.659A>G (p.Tyr220Cys)	TMEM127 (Y220C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1014859	NM_017849.4(TMEM127):c.658T>C (p.Tyr220His)	TMEM127 (Y220H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1691886	NM_017849.4(TMEM127):c.657C>T (p.Pro219=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1015866	NM_017849.4(TMEM127):c.656C>A (p.Pro219His)	TMEM127 (P219H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 844858	NM_017849.4(TMEM127):c.656C>G (p.Pro219Arg)	TMEM127 (P219R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 643972	NM_017849.4(TMEM127):c.652G>A (p.Glu218Lys)	TMEM127 (E218K)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 532538	NM_017849.4(TMEM127):c.651C>T (p.Asn217=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 1369578	NM_017849.4(TMEM127):c.648_649dup (p.Asn217fs)	TMEM127 (N217fs)	Microsatellite (frameshift variant)	not provided +1 more	GUncertain significance
Select item 3013505	NM_017849.4(TMEM127):c.646G>A (p.Glu216Lys)	TMEM127 (E132K +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 643694	NM_017849.4(TMEM127):c.644A>G (p.Glu215Gly)	TMEM127 (E215G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 997454	NM_017849.4(TMEM127):c.642G>T (p.Met214Ile)	TMEM127 (M214I)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +2 more	GUncertain significance
Select item 968727	NM_017849.4(TMEM127):c.640A>T (p.Met214Leu)	TMEM127 (M214L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1753164	NM_017849.4(TMEM127):c.637G>A (p.Glu213Lys)	TMEM127 (E129K +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 742656	NM_017849.4(TMEM127):c.636A>G (p.Ser212=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 1062141	NM_017849.4(TMEM127):c.634T>C (p.Ser212Pro)	TMEM127 (S212P)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 1160760	NM_017849.4(TMEM127):c.633C>G (p.Leu211=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 826330	NM_017849.4(TMEM127):c.633C>T (p.Leu211=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1955443	NM_017849.4(TMEM127):c.630G>T (p.Leu210=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 743932	NM_017849.4(TMEM127):c.630G>A (p.Leu210=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 1583128	NM_017849.4(TMEM127):c.627G>A (p.Glu209=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 826281	NM_017849.4(TMEM127):c.626A>T (p.Glu209Val)	TMEM127 (E209V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1349666	NM_017849.4(TMEM127):c.410-265_625del	TMEM127	Deletion (splice acceptor variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 45824	NM_017849.4(TMEM127):c.621G>A (p.Ala207=)	TMEM127	Single nucleotide variant	not specified +4 more	GBenign
Select item 405198	NM_017849.4(TMEM127):c.620C>T (p.Ala207Val)	TMEM127 (A207V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 241227	NM_017849.4(TMEM127):c.619G>A (p.Ala207Thr)	TMEM127 (A207T)	Single nucleotide variant (missense variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 2725285	NM_017849.4(TMEM127):c.618G>A (p.Gln206=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 860515	NM_017849.4(TMEM127):c.616C>T (p.Gln206Ter)	TMEM127 (Q206*)	Single nucleotide variant (nonsense)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 2815013	NM_017849.4(TMEM127):c.615G>A (p.Glu205=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1058090	NM_017849.4(TMEM127):c.615G>C (p.Glu205Asp)	TMEM127 (E205D)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 962576	NM_017849.4(TMEM127):c.613del (p.Glu205fs)	TMEM127 (E205fs)	Deletion (frameshift variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GConflicting classifications of pathogenicity
Select item 1022225	NM_017849.4(TMEM127):c.612G>C (p.Glu204Asp)	TMEM127 (E204D)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 1751671	NM_017849.4(TMEM127):c.610G>A (p.Glu204Lys)	TMEM127 (E120K +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 1555912	NM_017849.4(TMEM127):c.609A>G (p.Glu203=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2849449	NM_017849.4(TMEM127):c.605A>G (p.Glu202Gly)	TMEM127 (E118G +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 532526	NM_017849.4(TMEM127):c.604G>A (p.Glu202Lys)	TMEM127 (E202K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 760978	NM_017849.4(TMEM127):c.603A>C (p.Thr201=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 1023949	NM_017849.4(TMEM127):c.601A>T (p.Thr201Ser)	TMEM127 (T201S)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 957436	NM_017849.4(TMEM127):c.601A>G (p.Thr201Ala)	TMEM127 (T201A)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 413238	NM_017849.4(TMEM127):c.600C>A (p.Pro200=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GLikely benign
Select item 532527	NM_017849.4(TMEM127):c.598C>T (p.Pro200Ser)	TMEM127 (P200S)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +3 more	GUncertain significance
Select item 405195	NM_017849.4(TMEM127):c.598C>A (p.Pro200Thr)	TMEM127 (P200T)	Single nucleotide variant (missense variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 2965133	NM_017849.4(TMEM127):c.597C>T (p.Tyr199=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1063087	NM_017849.4(TMEM127):c.597C>A (p.Tyr199Ter)	TMEM127 (Y199*)	Single nucleotide variant (nonsense)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 1387744	NM_017849.4(TMEM127):c.596A>T (p.Tyr199Phe)	TMEM127 (Y199F)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 2695020	NM_017849.4(TMEM127):c.593A>G (p.His198Arg)	TMEM127 (H198R +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 486543	NM_017849.4(TMEM127):c.590G>A (p.Arg197His)	TMEM127 (R197H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 337502	NM_017849.4(TMEM127):c.589C>T (p.Arg197Cys)	TMEM127 (R197C)	Single nucleotide variant (missense variant)	Pheochromocytoma +3 more	GConflicting classifications of pathogenicity
Select item 1079296	NM_017849.4(TMEM127):c.588G>A (p.Leu196=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 972473	NM_017849.4(TMEM127):c.587T>G (p.Leu196Arg)	TMEM127 (L196R)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 1623958	NM_017849.4(TMEM127):c.585C>T (p.Leu195=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 950791	NM_017849.4(TMEM127):c.584T>C (p.Leu195Pro)	TMEM127 (L195P)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +2 more	GUncertain significance
Select item 650380	NM_017849.4(TMEM127):c.584T>G (p.Leu195Arg)	TMEM127 (L195R)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 1509357	NM_017849.4(TMEM127):c.583C>T (p.Leu195Phe)	TMEM127 (L195F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1691885	NM_017849.4(TMEM127):c.582C>T (p.Asn194=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GConflicting classifications of pathogenicity

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