ClinVar for Gene (Select 55654) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3373251	NM_017849.4(TMEM127):c.-132+1G>C	LOC129934335, TMEM127	Single nucleotide variant (splice donor variant)	not provided	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 3326715	NM_017849.4(TMEM127):c.563T>C (p.Ile188Thr)	TMEM127 (I104T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3326714	NM_017849.4(TMEM127):c.140C>G (p.Ala47Gly)	TMEM127 (A47G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3326713	NM_017849.4(TMEM127):c.281G>C (p.Arg94Pro)	TMEM127 (R10P +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3326712	NM_017849.4(TMEM127):c.7G>T (p.Ala3Ser)	LOC129934333, TMEM127 (A3S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3326711	NM_017849.4(TMEM127):c.520G>C (p.Ala174Pro)	TMEM127 (A90P +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3326710	NM_017849.4(TMEM127):c.357G>C (p.Lys119Asn)	TMEM127 (K35N +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3326708	NM_017849.4(TMEM127):c.189C>A (p.Arg63=)	TMEM127	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3326707	NM_017849.4(TMEM127):c.555A>G (p.Gly185=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3326706	NM_017849.4(TMEM127):c.-3G>A	LOC129934333, TMEM127	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3326705	NM_017849.4(TMEM127):c.356A>G (p.Lys119Arg)	TMEM127 (K119R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3326704	NM_017849.4(TMEM127):c.579C>T (p.Ala193=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3326703	NM_017849.4(TMEM127):c.388G>A (p.Ala130Thr)	TMEM127 (A46T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3326702	NM_017849.4(TMEM127):c.594C>T (p.His198=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3326701	NM_017849.4(TMEM127):c.500C>A (p.Ser167Tyr)	TMEM127 (S167Y +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3326699	NM_017849.4(TMEM127):c.-1C>T	LOC129934333, TMEM127	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3326698	NM_017849.4(TMEM127):c.500C>G (p.Ser167Cys)	TMEM127 (S167C +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3326697	NM_017849.4(TMEM127):c.698C>G (p.Pro233Arg)	TMEM127 (P149R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3326696	NM_017849.4(TMEM127):c.642G>A (p.Met214Ile)	TMEM127 (M214I +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3326695	NM_017849.4(TMEM127):c.245-1443C>T	TMEM127	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3326693	NM_017849.4(TMEM127):c.527G>C (p.Ser176Thr)	TMEM127 (S92T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3247225	NC_000002.11:g.(?_96919546)_(96931119_?)dup	TMEM127	Duplication	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3247224	NC_000002.11:g.(?_96919546)_(96931119_?)del	TMEM127	Deletion	Hereditary pheochromocytoma-paraganglioma	GPathogenic
Select item 3242291	GRCh37/hg19 2q11.1-11.2(chr2:96555654-98024790)x1	ADRA2B, ANKRD23 +21 more	Copy number loss	not provided	GUncertain significance
Select item 3240613	NM_017849.4(TMEM127):c.200G>C (p.Gly67Ala)	TMEM127 (G67A)	Single nucleotide variant (missense variant +1 more)	Pheochromocytoma	GUncertain significance
Select item 3240612	NM_017849.4(TMEM127):c.449C>G (p.Ala150Gly)	TMEM127 (A150G +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma	GUncertain significance
Select item 3240611	NM_017849.4(TMEM127):c.400A>G (p.Ile134Val)	TMEM127 (I134V +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma	GUncertain significance
Select item 3239613	NM_017849.4(TMEM127):c.-9_15delinsCCGCCCGGAGCGACGGCG (p.Met1_Gly5delinsAlaThrAla)	LOC129934333, TMEM127	Indel (initiator_codon_variant +1 more)	not provided	GUncertain significance
Select item 3227098	NM_017849.4(TMEM127):c.8C>A (p.Ala3Asp)	LOC129934333, TMEM127 (A3D)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3227097	NM_017849.4(TMEM127):c.85C>A (p.Arg29Ser)	LOC129934333, TMEM127 (R29S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3227096	NM_017849.4(TMEM127):c.84G>A (p.Glu28=)	LOC129934333, TMEM127	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3227095	NM_017849.4(TMEM127):c.74del (p.Lys25fs)	LOC129934333, TMEM127 (K25fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3227094	NM_017849.4(TMEM127):c.702T>C (p.Pro234=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3227093	NM_017849.4(TMEM127):c.676G>C (p.Val226Leu)	TMEM127 (V142L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3227092	NM_017849.4(TMEM127):c.655C>T (p.Pro219Ser)	TMEM127 (P135S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3227091	NM_017849.4(TMEM127):c.634T>A (p.Ser212Thr)	TMEM127 (S128T +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3227090	NM_017849.4(TMEM127):c.631C>T (p.Leu211Phe)	TMEM127 (L127F +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3227089	NM_017849.4(TMEM127):c.616C>A (p.Gln206Lys)	TMEM127 (Q122K +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3227088	NM_017849.4(TMEM127):c.600C>T (p.Pro200=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3227087	NM_017849.4(TMEM127):c.552T>C (p.Gly184=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3227086	NM_017849.4(TMEM127):c.548C>G (p.Ala183Gly)	TMEM127 (A183G +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3227085	NM_017849.4(TMEM127):c.547G>T (p.Ala183Ser)	TMEM127 (A183S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3227084	NM_017849.4(TMEM127):c.544G>A (p.Gly182Arg)	TMEM127 (G182R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3227083	NM_017849.4(TMEM127):c.537G>C (p.Leu179=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3227082	NM_017849.4(TMEM127):c.516del (p.Phe173fs)	TMEM127 (F173fs +1 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 3227081	NM_017849.4(TMEM127):c.505G>A (p.Val169Ile)	TMEM127 (V169I +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3227080	NM_017849.4(TMEM127):c.490T>G (p.Tyr164Asp)	TMEM127 (Y164D +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3227079	NM_017849.4(TMEM127):c.472C>T (p.Gln158Ter)	TMEM127 (Q158* +1 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3227078	NM_017849.4(TMEM127):c.440_442del (p.Ser147del)	TMEM127 (S147del +1 more)	Deletion (inframe_deletion +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3227077	NM_017849.4(TMEM127):c.410-111C>T	TMEM127	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3227076	NM_017849.4(TMEM127):c.388_405delinsT (p.Ala130fs)	TMEM127 (A130fs +1 more)	Indel (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3227075	NM_017849.4(TMEM127):c.370A>G (p.Lys124Glu)	TMEM127 (K124E +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3227074	NM_017849.4(TMEM127):c.335T>A (p.Leu112His)	TMEM127 (L112H +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3227073	NM_017849.4(TMEM127):c.334C>T (p.Leu112Phe)	TMEM127 (L112F +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3227072	NM_017849.4(TMEM127):c.319del (p.Ser107fs)	TMEM127 (S107fs +1 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3227071	NM_017849.4(TMEM127):c.317G>A (p.Cys106Tyr)	TMEM127 (C106Y +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3227070	NM_017849.4(TMEM127):c.286A>G (p.Ile96Val)	TMEM127 (I12V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3227069	NM_017849.4(TMEM127):c.274C>T (p.Leu92Phe)	TMEM127 (L8F +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3227068	NM_017849.4(TMEM127):c.260C>G (p.Pro87Arg)	TMEM127 (P3R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3227067	NM_017849.4(TMEM127):c.200G>A (p.Gly67Glu)	TMEM127 (G67E)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3227066	NM_017849.4(TMEM127):c.190C>T (p.Gln64Ter)	TMEM127 (Q64*)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3227065	NM_017849.4(TMEM127):c.156C>T (p.Ala52=)	TMEM127	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3227064	NM_017849.4(TMEM127):c.135C>T (p.Cys45=)	TMEM127	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3227063	NM_017849.4(TMEM127):c.119C>G (p.Ser40Cys)	LOC129934333, TMEM127 (S40C)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3178535	NM_017849.4(TMEM127):c.409+1del	TMEM127	Deletion (splice donor variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 3063543	GRCh37/hg19 2q11.2(chr2:96917560-96934823)x1	CIAO1, TMEM127	Copy number loss	not specified	GPathogenic
Select item 3062623	GRCh37/hg19 2q11.1-11.2(chr2:96735977-98212850)x3	ADRA2B, ANKRD23 +20 more	Copy number gain	not specified	GUncertain significance
Select item 3062352	Single allele	ADRA2B, ASTL +4 more	Deletion	Pheochromocytoma	GUncertain significance
Select item 3051682	NM_017849.4(TMEM127):c.-21C>T	LOC129934333, TMEM127	Single nucleotide variant (5 prime UTR variant +1 more)	TMEM127-related disorder	GLikely benign
Select item 3024612	GRCh37/hg19 2q11.1-11.2(chr2:96780545-98098961)x1	ADRA2B, ANKRD23 +19 more	Copy number loss	not provided	GPathogenic
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 3010801	NM_017849.4(TMEM127):c.483_487delinsGCATAAGT (p.His161_Lys163delinsGlnHisLysTer)	TMEM127	Indel (nonsense)	Hereditary pheochromocytoma-paraganglioma	GPathogenic
Select item 3003932	NM_017849.4(TMEM127):c.516C>T (p.Thr172=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2993885	NM_017849.4(TMEM127):c.267_268del (p.Val90fs)	TMEM127 (V90fs +1 more)	Deletion (frameshift variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GPathogenic
Select item 2978670	NM_017849.4(TMEM127):c.244+15C>T	TMEM127	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2977615	NM_017849.4(TMEM127):c.43C>G (p.Arg15Gly)	LOC129934333, TMEM127 (R15G)	Single nucleotide variant (missense variant +1 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2975048	NM_017849.4(TMEM127):c.551G>T (p.Gly184Val)	TMEM127 (G100V +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2965133	NM_017849.4(TMEM127):c.597C>T (p.Tyr199=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2962972	NM_017849.4(TMEM127):c.13G>T (p.Gly5Ter)	LOC129934333, TMEM127 (G5*)	Single nucleotide variant (nonsense +1 more)	Hereditary pheochromocytoma-paraganglioma	GPathogenic
Select item 2959581	NM_017849.4(TMEM127):c.379C>G (p.Arg127Gly)	TMEM127 (R127G +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2918363	NM_017849.4(TMEM127):c.244+7G>A	TMEM127	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2918146	NM_017849.4(TMEM127):c.453T>C (p.Ser151=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2917542	NM_017849.4(TMEM127):c.40C>T (p.Arg14Trp)	LOC129934333, TMEM127 (R14W)	Single nucleotide variant (missense variant +1 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2915254	NM_017849.4(TMEM127):c.278T>G (p.Leu93Arg)	TMEM127 (L9R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2914011	NM_017849.4(TMEM127):c.386A>G (p.Tyr129Cys)	TMEM127 (Y129C +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2910142	NM_017849.4(TMEM127):c.131T>G (p.Leu44Arg)	TMEM127 (L44R)	Single nucleotide variant (missense variant +1 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2908070	NM_017849.4(TMEM127):c.244+10C>G	TMEM127	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
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 2902579	NM_017849.4(TMEM127):c.385T>C (p.Tyr129His)	TMEM127 (Y129H +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 2898040	NM_017849.4(TMEM127):c.699C>G (p.Pro233=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2897464	NM_017849.4(TMEM127):c.244+8T>C	TMEM127	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2895494	NM_017849.4(TMEM127):c.12C>G (p.Pro4=)	LOC129934333, TMEM127	Single nucleotide variant (synonymous variant +1 more)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2895101	NM_017849.4(TMEM127):c.245-10C>T	TMEM127	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
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 2866020	NM_017849.4(TMEM127):c.410-19C>T	TMEM127	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2865063	NM_017849.4(TMEM127):c.345C>T (p.Val115=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2861421	NM_017849.4(TMEM127):c.410-4C>G	TMEM127	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 2858351	NM_017849.4(TMEM127):c.14G>A (p.Gly5Glu)	LOC129934333, TMEM127 (G5E)	Single nucleotide variant (missense variant +1 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance

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