"GeneDx"[submitter] AND "TMEM127"[gene] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	See cases	GPathogenic
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934355, LOC129934356 +348 more	Copy number gain	See cases	GPathogenic
Select item 59308	GRCh38/hg38 2q11.1-11.2(chr2:95806265-97285797)x3	ADRA2B, ANKRD23 +127 more	Copy number gain	See cases	GUncertain significance
Select item 59309	GRCh38/hg38 2q11.1-11.2(chr2:95810453-97024341)x3	ADRA2B, ANKRD23 +120 more	Copy number gain	See cases	GUncertain significance
Select item 59310	GRCh38/hg38 2q11.1-11.2(chr2:95880668-97131646)x3	LOC129934346, LOC129934347 +125 more	Copy number gain	See cases	GUncertain significance
Select item 59311	GRCh38/hg38 2q11.1-11.2(chr2:95916534-97024341)x3	ADRA2B, ANKRD23 +119 more	Copy number gain	See cases	GUncertain significance
Select item 146017	GRCh38/hg38 2q11.2(chr2:96073560-97062710)x1	ADRA2B, ANKRD23 +114 more	Copy number loss	See cases	GPathogenic
Select item 337500	NM_017849.4(TMEM127):c.*50C>T	TMEM127	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
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 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 405200	NM_017849.4(TMEM127):c.665C>T (p.Ala222Val)	TMEM127 (A222V)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 45824	NM_017849.4(TMEM127):c.621G>A (p.Ala207=)	TMEM127	Single nucleotide variant	Hereditary cancer-predisposing syndrome +4 more	GBenign
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 1314398	NM_017849.4(TMEM127):c.607G>A (p.Glu203Lys)	TMEM127 (E203K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 532526	NM_017849.4(TMEM127):c.604G>A (p.Glu202Lys)	TMEM127 (E202K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 532527	NM_017849.4(TMEM127):c.598C>T (p.Pro200Ser)	TMEM127 (P200S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 405195	NM_017849.4(TMEM127):c.598C>A (p.Pro200Thr)	TMEM127 (P200T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	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 486539	NM_017849.4(TMEM127):c.572C>T (p.Thr191Met)	TMEM127 (T191M)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +2 more	GConflicting classifications of pathogenicity
Select item 486549	NM_017849.4(TMEM127):c.570del (p.Thr191fs)	TMEM127 (T191fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely pathogenic
Select item 184272	NM_017849.4(TMEM127):c.565C>T (p.Leu189=)	TMEM127	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 3378312	NM_017849.4(TMEM127):c.546_547insT (p.Ala183fs)	TMEM127 (A183fs +1 more)	Insertion (frameshift variant)	not provided	GLikely pathogenic
Select item 421874	NM_017849.4(TMEM127):c.532dup (p.Tyr178fs)	TMEM127 (Y178fs)	Duplication (frameshift variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GPathogenic/Likely pathogenic
Select item 825579	NM_017849.4(TMEM127):c.523G>A (p.Val175Ile)	TMEM127 (V175I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 532504	NM_017849.4(TMEM127):c.490T>C (p.Tyr164His)	TMEM127 (Y164H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 265271	NM_017849.4(TMEM127):c.464T>A (p.Leu155Ter)	TMEM127 (L155*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 449954	NM_017849.4(TMEM127):c.410-2A>G	TMEM127	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 677863	NM_017849.4(TMEM127):c.409+45G>C	TMEM127	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 514375	NM_017849.4(TMEM127):c.409+20A>G	TMEM127	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 241223	NM_017849.4(TMEM127):c.409+7C>T	TMEM127	Single nucleotide variant (intron variant)	Pheochromocytoma +4 more	GBenign/Likely benign
Select item 575099	NM_017849.4(TMEM127):c.397del (p.His133fs)	TMEM127 (H133fs)	Deletion (frameshift variant)	Hereditary pheochromocytoma-paraganglioma +3 more	GPathogenic/Likely pathogenic
Select item 337504	NM_017849.4(TMEM127):c.379C>T (p.Arg127Cys)	TMEM127 (R127C)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +3 more	GUncertain significance
Select item 933646	NM_017849.4(TMEM127):c.328G>A (p.Ala110Thr)	TMEM127 (A110T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 184568	NM_017849.4(TMEM127):c.324C>T (p.Leu108=)	TMEM127	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 486536	NM_017849.4(TMEM127):c.313C>T (p.Leu105=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1055042	NM_017849.4(TMEM127):c.312C>G (p.Ile104Met)	TMEM127 (I104M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 241222	NM_017849.4(TMEM127):c.292G>A (p.Ala98Thr)	TMEM127 (A98T)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +4 more	GConflicting classifications of pathogenicity
Select item 337506	NM_017849.4(TMEM127):c.281G>A (p.Arg94Gln)	TMEM127 (R94Q)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +3 more	GConflicting classifications of pathogenicity
Select item 126967	NM_017849.4(TMEM127):c.280C>T (p.Arg94Trp)	TMEM127 (R94W)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 515768	NM_017849.4(TMEM127):c.276C>G (p.Leu92=)	TMEM127	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1386560	NM_017849.4(TMEM127):c.272T>A (p.Leu91Gln)	TMEM127 (L91Q)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 136209	NM_017849.4(TMEM127):c.268G>A (p.Val90Met)	TMEM127 (V90M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 681531	NM_017849.4(TMEM127):c.267A>G (p.Thr89=)	TMEM127	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2662646	NM_017849.4(TMEM127):c.251G>C (p.Cys84Ser)	TMEM127 (C84S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 109	NM_017849.4(TMEM127):c.245-1G>T	TMEM127	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 677245	NM_017849.4(TMEM127):c.245-158A>C	TMEM127	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252737	NM_017849.4(TMEM127):c.245-258G>A	TMEM127	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 681436	NM_017849.4(TMEM127):c.244+6G>T	TMEM127	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 658083	NM_017849.4(TMEM127):c.221A>G (p.Tyr74Cys)	TMEM127 (Y74C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 126965	NM_017849.4(TMEM127):c.217G>C (p.Gly73Arg)	TMEM127 (G73R)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +3 more	GUncertain significance
Select item 648770	NM_017849.4(TMEM127):c.211G>A (p.Val71Met)	TMEM127 (V71M)	Single nucleotide variant (missense variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 126964	NM_017849.4(TMEM127):c.208G>A (p.Asp70Asn)	TMEM127 (D70N)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +3 more	GBenign/Likely benign
Select item 943702	NM_017849.4(TMEM127):c.205T>C (p.Ser69Pro)	TMEM127 (S69P)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +2 more	GUncertain significance
Select item 3369401	NM_017849.4(TMEM127):c.195G>C (p.Glu65Asp)	TMEM127 (E65D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1011228	NM_017849.4(TMEM127):c.185C>T (p.Ser62Leu)	TMEM127 (S62L)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 463841	NM_017849.4(TMEM127):c.166A>G (p.Ile56Val)	TMEM127 (I56V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 959374	NM_017849.4(TMEM127):c.157T>G (p.Trp53Gly)	TMEM127 (W53G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 649518	NM_017849.4(TMEM127):c.154G>T (p.Ala52Ser)	TMEM127 (A52S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 819465	NM_017849.4(TMEM127):c.152C>T (p.Pro51Leu)	TMEM127 (P51L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 532528	NM_017849.4(TMEM127):c.145G>A (p.Ala49Thr)	TMEM127 (A49T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 463838	NM_017849.4(TMEM127):c.136A>G (p.Thr46Ala)	TMEM127 (T46A)	Single nucleotide variant (missense variant)	TMEM127-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1481557	NM_017849.4(TMEM127):c.125C>G (p.Thr42Arg)	LOC129934333, TMEM127 (T42R)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 480774	NM_017849.4(TMEM127):c.121A>G (p.Ile41Val)	LOC129934333, TMEM127 (I41V)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 397511	NM_017849.4(TMEM127):c.117_120del (p.Ile41fs)	LOC129934333, TMEM127 (I41fs)	Deletion (frameshift variant)	Hereditary pheochromocytoma-paraganglioma +3 more	GPathogenic
Select item 2442420	NM_017849.4(TMEM127):c.110G>A (p.Gly37Asp)	LOC129934333, TMEM127 (G37D)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +3 more	GUncertain significance
Select item 405201	NM_017849.4(TMEM127):c.88A>G (p.Ser30Gly)	LOC129934333, TMEM127 (S30G)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2501387	NM_017849.4(TMEM127):c.74A>G (p.Lys25Arg)	LOC129934333, TMEM127 (K25R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 486547	NM_017849.4(TMEM127):c.62G>A (p.Ser21Asn)	LOC129934333, TMEM127 (S21N)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2498063	NM_017849.4(TMEM127):c.55G>T (p.Gly19Ter)	LOC129934333, TMEM127 (G19*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 486533	NM_017849.4(TMEM127):c.52C>T (p.Pro18Ser)	LOC129934333, TMEM127 (P18S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 126968	NM_017849.4(TMEM127):c.3G>T (p.Met1Ile)	LOC129934333, TMEM127 (M1I)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 489057	NM_017849.4(TMEM127):c.1A>G (p.Met1Val)	LOC129934333, TMEM127 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 385513	NM_017849.4(TMEM127):c.-132+17G>A	LOC129934335, TMEM127	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3373251	NM_017849.4(TMEM127):c.-132+1G>C	LOC129934335, TMEM127	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 677140	NM_017849.3(TMEM127):c.-371A>G	TMEM127	Single nucleotide variant	not provided	GBenign

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Items: 76