"Sema4, Sema4"[submitter] AND "TMEM127"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 405200	NM_017849.4(TMEM127):c.665C>T (p.Ala222Val)	TMEM127 (A222V)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1691886	NM_017849.4(TMEM127):c.657C>T (p.Pro219=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GLikely benign
Select item 1015866	NM_017849.4(TMEM127):c.656C>A (p.Pro219His)	TMEM127 (P219H)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 1691885	NM_017849.4(TMEM127):c.582C>T (p.Asn194=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 413244	NM_017849.4(TMEM127):c.573G>A (p.Thr191=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 486539	NM_017849.4(TMEM127):c.572C>T (p.Thr191Met)	TMEM127 (T191M)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +2 more	GBenign/Likely benign
Select item 184272	NM_017849.4(TMEM127):c.565C>T (p.Leu189=)	TMEM127	Single nucleotide variant (synonymous variant)	Pheochromocytoma +4 more	GBenign/Likely benign
Select item 463853	NM_017849.4(TMEM127):c.562A>G (p.Ile188Val)	TMEM127 (I188V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 532504	NM_017849.4(TMEM127):c.490T>C (p.Tyr164His)	TMEM127 (Y164H)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +2 more	GUncertain significance
Select item 1691884	NM_017849.4(TMEM127):c.471G>T (p.Gln157His)	TMEM127 (Q157H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 265271	NM_017849.4(TMEM127):c.464T>A (p.Leu155Ter)	TMEM127 (L155*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 699689	NM_017849.4(TMEM127):c.410-7C>T	TMEM127	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GConflicting classifications of pathogenicity
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 337504	NM_017849.4(TMEM127):c.379C>T (p.Arg127Cys)	TMEM127 (R127C)	Single nucleotide variant (missense variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 728640	NM_017849.4(TMEM127):c.354G>A (p.Pro118=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GConflicting classifications of pathogenicity
Select item 184568	NM_017849.4(TMEM127):c.324C>T (p.Leu108=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +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 241222	NM_017849.4(TMEM127):c.292G>A (p.Ala98Thr)	TMEM127 (A98T)	Single nucleotide variant (missense variant)	Pheochromocytoma +3 more	GConflicting classifications of pathogenicity
Select item 241221	NM_017849.4(TMEM127):c.289G>A (p.Ala97Thr)	TMEM127 (A97T)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +2 more	GUncertain significance
Select item 126967	NM_017849.4(TMEM127):c.280C>T (p.Arg94Trp)	TMEM127 (R94W)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +3 more	GUncertain significance
Select item 136209	NM_017849.4(TMEM127):c.268G>A (p.Val90Met)	TMEM127 (V90M)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +4 more	GBenign/Likely benign
Select item 571215	NM_017849.4(TMEM127):c.245-1G>C	TMEM127	Single nucleotide variant (splice acceptor variant)	Pheochromocytoma +2 more	GPathogenic/Likely pathogenic
Select item 126964	NM_017849.4(TMEM127):c.208G>A (p.Asp70Asn)	TMEM127 (D70N)	Single nucleotide variant (missense variant)	TMEM127-related disorder +4 more	GBenign/Likely benign
Select item 706209	NM_017849.4(TMEM127):c.130C>T (p.Leu44=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GConflicting classifications of pathogenicity
Select item 397511	NM_017849.4(TMEM127):c.117_120del (p.Ile41fs)	LOC129934333, TMEM127 (I41fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
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 241226	NM_017849.4(TMEM127):c.53C>T (p.Pro18Leu)	LOC129934333, TMEM127 (P18L)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 337511	NM_017849.4(TMEM127):c.-131-7C>T	LOC129934333, TMEM127	Single nucleotide variant (intron variant)	Pheochromocytoma +1 more	GConflicting classifications of pathogenicity

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Items: 28