"Baylor Genetics"[submitter] AND "TMEM127"[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 935490	NM_017849.4(TMEM127):c.674A>G (p.Glu225Gly)	TMEM127 (E225G)	Single nucleotide variant (missense variant)	Pheochromocytoma +1 more	GUncertain significance
Select item 405200	NM_017849.4(TMEM127):c.665C>T (p.Ala222Val)	TMEM127 (A222V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 2679215	NM_017849.4(TMEM127):c.643G>C (p.Glu215Gln)	TMEM127 (E131Q +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma	GUncertain significance
Select item 997454	NM_017849.4(TMEM127):c.642G>T (p.Met214Ile)	TMEM127 (M214I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 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 941668	NM_017849.4(TMEM127):c.568G>A (p.Ala190Thr)	TMEM127 (A190T)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +2 more	GUncertain significance
Select item 1044240	NM_017849.4(TMEM127):c.545G>C (p.Gly182Ala)	TMEM127 (G182A)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 486548	NM_017849.4(TMEM127):c.526A>G (p.Ser176Gly)	TMEM127 (S176G)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +2 more	GUncertain significance
Select item 1428640	NM_017849.4(TMEM127):c.506T>A (p.Val169Asp)	TMEM127 (V169D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 463849	NM_017849.4(TMEM127):c.469C>T (p.Gln157Ter)	TMEM127 (Q157*)	Single nucleotide variant (nonsense)	Pheochromocytoma +2 more	GPathogenic
Select item 265271	NM_017849.4(TMEM127):c.464T>A (p.Leu155Ter)	TMEM127 (L155*)	Single nucleotide variant (nonsense)	Pheochromocytoma +3 more	GPathogenic/Likely pathogenic
Select item 1057964	NM_017849.4(TMEM127):c.443A>T (p.Tyr148Phe)	TMEM127 (Y148F)	Single nucleotide variant (missense variant)	Pheochromocytoma +1 more	GUncertain significance
Select item 2679214	NM_017849.4(TMEM127):c.433G>A (p.Gly145Ser)	TMEM127 (G145S +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma	GUncertain significance
Select item 463847	NM_017849.4(TMEM127):c.427G>A (p.Val143Ile)	TMEM127 (V143I)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1738393	NM_017849.4(TMEM127):c.416A>G (p.Gln139Arg)	TMEM127 (Q139R +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +1 more	GUncertain significance
Select item 863653	NM_017849.4(TMEM127):c.383G>A (p.Arg128His)	TMEM127 (R128H)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +2 more	GUncertain significance
Select item 337504	NM_017849.4(TMEM127):c.379C>T (p.Arg127Cys)	TMEM127 (R127C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 486542	NM_017849.4(TMEM127):c.353C>T (p.Pro118Leu)	TMEM127 (P118L)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +3 more	GUncertain significance
Select item 2679217	NM_017849.4(TMEM127):c.340G>C (p.Asp114His)	TMEM127 (D114H +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma	GUncertain significance
Select item 241221	NM_017849.4(TMEM127):c.289G>A (p.Ala97Thr)	TMEM127 (A97T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 126966	NM_017849.4(TMEM127):c.265_268del (p.Thr89fs)	TMEM127 (T89fs)	Deletion (frameshift variant)	Hereditary pheochromocytoma-paraganglioma +2 more	GPathogenic
Select item 141471	NM_017849.4(TMEM127):c.248del (p.Phe83fs)	TMEM127 (F83fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 126965	NM_017849.4(TMEM127):c.217G>C (p.Gly73Arg)	TMEM127 (G73R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 646591	NM_017849.4(TMEM127):c.172G>A (p.Gly58Arg)	TMEM127 (G58R)	Single nucleotide variant (missense variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 463841	NM_017849.4(TMEM127):c.166A>G (p.Ile56Val)	TMEM127 (I56V)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +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 463837	NM_017849.4(TMEM127):c.133T>A (p.Cys45Ser)	TMEM127 (C45S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2679219	NM_017849.4(TMEM127):c.130C>G (p.Leu44Val)	TMEM127 (L44V)	Single nucleotide variant (missense variant +1 more)	Pheochromocytoma	GUncertain significance
Select item 480774	NM_017849.4(TMEM127):c.121A>G (p.Ile41Val)	LOC129934333, TMEM127 (I41V)	Single nucleotide variant (missense variant)	Acute myeloid leukemia +5 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 864030	NM_017849.4(TMEM127):c.112G>T (p.Ala38Ser)	LOC129934333, TMEM127 (A38S)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +2 more	GUncertain significance
Select item 2442420	NM_017849.4(TMEM127):c.110G>A (p.Gly37Asp)	LOC129934333, TMEM127 (G37D)	Single nucleotide variant (missense variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 818275	NM_017849.4(TMEM127):c.101C>G (p.Ala34Gly)	LOC129934333, TMEM127 (A34G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 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 463856	NM_017849.4(TMEM127):c.67C>A (p.Leu23Met)	LOC129934333, TMEM127 (L23M)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +2 more	GUncertain significance
Select item 486547	NM_017849.4(TMEM127):c.62G>A (p.Ser21Asn)	LOC129934333, TMEM127 (S21N)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +2 more	GUncertain significance
Select item 2679216	NM_017849.4(TMEM127):c.61A>T (p.Ser21Cys)	LOC129934333, TMEM127 (S21C)	Single nucleotide variant (missense variant +1 more)	Pheochromocytoma	GUncertain significance
Select item 486533	NM_017849.4(TMEM127):c.52C>T (p.Pro18Ser)	LOC129934333, TMEM127 (P18S)	Single nucleotide variant (missense variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 849549	NM_017849.4(TMEM127):c.49A>G (p.Ser17Gly)	LOC129934333, TMEM127 (S17G)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 1476296	NM_017849.4(TMEM127):c.44G>T (p.Arg15Leu)	LOC129934333, TMEM127 (R15L)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 1735039	NM_017849.4(TMEM127):c.37C>T (p.Arg13Cys)	LOC129934333, TMEM127 (R13C)	Single nucleotide variant (missense variant)	Pheochromocytoma +1 more	GUncertain significance
Select item 951046	NM_017849.4(TMEM127):c.24_32del (p.Leu9_Gly11del)	LOC129934333, TMEM127	Deletion (inframe_deletion)	Pheochromocytoma +2 more	GUncertain significance
Select item 2679218	NM_017849.4(TMEM127):c.29C>T (p.Pro10Leu)	LOC129934333, TMEM127 (P10L)	Single nucleotide variant (missense variant +1 more)	Pheochromocytoma	GUncertain significance
Select item 185610	NM_017849.4(TMEM127):c.13G>A (p.Gly5Arg)	LOC129934333, TMEM127 (G5R)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 532515	NM_017849.4(TMEM127):c.10C>T (p.Pro4Ser)	LOC129934333, TMEM127 (P4S)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +2 more	GUncertain significance

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Items: 45