ClinVar for MedGen (Select 313270) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3780588	NM_003002.4(SDHD):c.304del (p.His102fs)	SDHD (H102fs +1 more)	Deletion (frameshift variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GLikely pathogenic
Select item 3729180	NM_017849.4(TMEM127):c.470A>G (p.Gln157Arg)	TMEM127 (Q157R +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3729044	NM_017849.4(TMEM127):c.384del (p.Tyr129fs)	TMEM127 (Y129fs +1 more)	Deletion (frameshift variant)	Hereditary pheochromocytoma-paraganglioma	GPathogenic
Select item 3728894	NM_017849.4(TMEM127):c.410-27_410-13del	TMEM127	Deletion (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3728672	NM_017849.4(TMEM127):c.146C>G (p.Ala49Gly)	TMEM127 (A49G)	Single nucleotide variant (missense variant +1 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3728064	NM_017841.4(SDHAF2):c.371-19G>T	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3727837	NM_017849.4(TMEM127):c.91C>T (p.Leu31=)	LOC129934333, TMEM127	Single nucleotide variant (synonymous variant +1 more)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3726846	NM_002382.5(MAX):c.296-11T>C	MAX	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3726286	NM_002382.5(MAX):c.296-19_296-17del	MAX	Deletion (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3725740	NM_017841.4(SDHAF2):c.361T>C (p.Trp121Arg)	SDHAF2 (W121R)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3725720	NM_017849.4(TMEM127):c.548C>T (p.Ala183Val)	TMEM127 (A183V +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3724729	NM_017849.4(TMEM127):c.207C>T (p.Ser69=)	TMEM127	Single nucleotide variant (synonymous variant +1 more)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3724587	NM_017849.4(TMEM127):c.461T>A (p.Ile154Asn)	TMEM127 (I70N +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3724347	NM_017841.4(SDHAF2):c.261-8del	SDHAF2	Deletion (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3722753	NM_017841.4(SDHAF2):c.498T>G (p.Arg166=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3722692	NM_017849.4(TMEM127):c.440C>T (p.Ser147Phe)	TMEM127 (S63F +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3722167	NM_002382.5(MAX):c.37-2A>C	MAX	Single nucleotide variant (synonymous variant +3 more)	Hereditary pheochromocytoma-paraganglioma	GLikely pathogenic
Select item 3721989	NM_017841.4(SDHAF2):c.76del (p.Leu26fs)	SDHAF2 (L26fs)	Deletion (frameshift variant)	Hereditary pheochromocytoma-paraganglioma	GPathogenic
Select item 3719537	NM_017841.4(SDHAF2):c.394T>C (p.Phe132Leu)	SDHAF2 (F132L)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3717858	NM_017841.4(SDHAF2):c.174A>C (p.Arg58Ser)	SDHAF2 (R58S)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3717061	NM_017841.4(SDHAF2):c.430G>C (p.Ala144Pro)	SDHAF2 (A144P)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3716966	NM_017841.4(SDHAF2):c.334C>T (p.Pro112Ser)	SDHAF2 (P112S)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3714349	NM_017841.4(SDHAF2):c.279T>C (p.His93=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3711468	NM_017841.4(SDHAF2):c.197A>G (p.Lys66Arg)	SDHAF2 (K66R)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3709666	NM_017841.4(SDHAF2):c.371-15A>G	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3707945	NM_002382.5(MAX):c.3G>A (p.Met1Ile)	LOC130055850, MAX (M1I)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 3707488	NM_002382.5(MAX):c.64-3T>C	MAX, MAX-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3706571	NM_017849.4(TMEM127):c.661C>T (p.Pro221Ser)	TMEM127 (P221S +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3705517	NM_017849.4(TMEM127):c.297C>T (p.Phe99=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3705114	NM_017841.4(SDHAF2):c.371-18C>T	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3704878	NM_017841.4(SDHAF2):c.426_428del (p.Phe143del)	SDHAF2 (F143del)	Deletion	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3703872	NM_017849.4(TMEM127):c.606G>A (p.Glu202=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3703010	NM_017841.4(SDHAF2):c.260+18_260+19insC	SDHAF2	Insertion (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3701776	NM_017841.4(SDHAF2):c.25A>T (p.Thr9Ser)	SDHAF2 (T9S)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3701186	NM_017849.4(TMEM127):c.691C>T (p.Gln231Ter)	TMEM127 (Q231* +1 more)	Single nucleotide variant (nonsense)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3700641	NM_017849.4(TMEM127):c.128C>T (p.Ala43Val)	TMEM127 (A43V)	Single nucleotide variant (missense variant +1 more)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 3700326	NM_017849.4(TMEM127):c.568G>C (p.Ala190Pro)	TMEM127 (A106P +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3699392	NM_002382.5(MAX):c.320C>T (p.Ser107Leu)	MAX (S44L +4 more)	Single nucleotide variant (missense variant +3 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3697754	NM_002382.5(MAX):c.37-3C>T	MAX	Single nucleotide variant (synonymous variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3695262	NM_017841.4(SDHAF2):c.440A>G (p.Lys147Arg)	SDHAF2 (K147R)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3691644	NM_002382.5(MAX):c.166G>C (p.Glu56Gln)	MAX, MAX-AS1 (E47Q +2 more)	Single nucleotide variant (non-coding transcript variant +3 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3691210	NM_017841.4(SDHAF2):c.261-18T>C	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3688447	NM_017841.4(SDHAF2):c.36+15C>T	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3683213	NM_017841.4(SDHAF2):c.489_*4dup (p.Glu163_Ter167=)	SDHAF2	Duplication (no sequence alteration)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3677491	NM_002382.5(MAX):c.36+10G>T	LOC130055850, MAX	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3675287	NM_002382.5(MAX):c.52T>G (p.Phe18Val)	MAX (F18V)	Single nucleotide variant (5 prime UTR variant +4 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3673290	NM_002382.5(MAX):c.24G>T (p.Glu8Asp)	LOC130055850, MAX (E8D)	Single nucleotide variant (missense variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3670302	NM_017841.4(SDHAF2):c.437dup (p.Asn146fs)	SDHAF2 (N146fs)	Duplication (frameshift variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3670153	NM_017849.4(TMEM127):c.355_383dup (p.Arg128_Tyr129insSerIleLeuLeuTer)	TMEM127	Duplication (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 3669307	NM_002382.5(MAX):c.64-20_64-19delinsAT	MAX, MAX-AS1	Indel (non-coding transcript variant +1 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3668776	NM_017849.4(TMEM127):c.449del (p.Ala150fs)	TMEM127 (A66fs +1 more)	Deletion (frameshift variant)	Hereditary pheochromocytoma-paraganglioma	GPathogenic
Select item 3666184	NM_017849.4(TMEM127):c.155C>A (p.Ala52Asp)	TMEM127 (A52D)	Single nucleotide variant (missense variant +1 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3665074	NM_017849.4(TMEM127):c.697C>A (p.Pro233Thr)	TMEM127 (P149T +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3664474	NM_002382.5(MAX):c.64-2A>T	MAX, MAX-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GLikely pathogenic
Select item 3664320	NM_017849.4(TMEM127):c.6C>A (p.Tyr2Ter)	LOC129934333, TMEM127 (Y2*)	Single nucleotide variant (nonsense +1 more)	Hereditary pheochromocytoma-paraganglioma	GPathogenic
Select item 3663877	NM_002382.5(MAX):c.253A>G (p.Ile85Val)	MAX (I85V +2 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3663469	NM_017849.4(TMEM127):c.50G>A (p.Ser17Asn)	LOC129934333, TMEM127 (S17N)	Single nucleotide variant (missense variant +1 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3661509	NM_002382.5(MAX):c.100A>T (p.Lys34Ter)	MAX, MAX-AS1 (K34* +2 more)	Single nucleotide variant (non-coding transcript variant +4 more)	Hereditary pheochromocytoma-paraganglioma	GPathogenic
Select item 3658177	NM_017849.4(TMEM127):c.481C>A (p.His161Asn)	TMEM127 (H161N +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3657033	NM_002382.5(MAX):c.187A>T (p.Ile63Phe)	MAX (I54F +2 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3656807	NM_017849.4(TMEM127):c.244+17C>G	TMEM127	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3656798	NM_017849.4(TMEM127):c.314del (p.Leu105fs)	TMEM127 (L105fs +1 more)	Deletion (frameshift variant)	Hereditary pheochromocytoma-paraganglioma	GPathogenic
Select item 3656673	NM_002382.5(MAX):c.64-4C>G	MAX, MAX-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3654596	NM_017841.4(SDHAF2):c.86C>T (p.Thr29Ile)	SDHAF2 (T29I)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3653456	NM_017849.4(TMEM127):c.409+4A>G	TMEM127	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3653437	NM_002382.5(MAX):c.183C>A (p.Ala61=)	MAX	Single nucleotide variant (5 prime UTR variant +3 more)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3653425	NM_017841.4(SDHAF2):c.337A>C (p.Ser113Arg)	SDHAF2 (S113R)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3653285	NM_002382.5(MAX):c.171+19C>G	MAX, MAX-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3651868	NM_002382.5(MAX):c.171+15A>G	MAX, MAX-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3651765	NM_017849.4(TMEM127):c.142C>T (p.Leu48Phe)	TMEM127 (L48F)	Single nucleotide variant (missense variant +1 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3651419	NM_017849.4(TMEM127):c.133T>C (p.Cys45Arg)	TMEM127 (C45R)	Single nucleotide variant (missense variant +1 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3651308	NM_002382.5(MAX):c.296-15T>A	MAX	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3650919	NM_017849.4(TMEM127):c.244+17C>T	TMEM127	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3650061	NM_017841.4(SDHAF2):c.260+1G>C	SDHAF2	Single nucleotide variant (splice donor variant)	Hereditary pheochromocytoma-paraganglioma	GLikely pathogenic
Select item 3648971	NM_017849.4(TMEM127):c.244+13C>G	TMEM127	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3648741	NM_017841.4(SDHAF2):c.221G>C (p.Ser74Thr)	SDHAF2 (S74T)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3647542	NM_017849.4(TMEM127):c.701C>G (p.Pro234Arg)	TMEM127 (P234R +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3647414	NM_017841.4(SDHAF2):c.226A>G (p.Lys76Glu)	SDHAF2 (K76E)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3646909	NM_017849.4(TMEM127):c.568G>T (p.Ala190Ser)	TMEM127 (A190S +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3646436	NM_017849.4(TMEM127):c.622C>T (p.Leu208=)	TMEM127	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3646310	NM_017841.4(SDHAF2):c.27T>C (p.Thr9=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3646144	NM_017841.4(SDHAF2):c.215_216del (p.Leu71_Tyr72insTer)	SDHAF2	Deletion (nonsense)	Hereditary pheochromocytoma-paraganglioma	GPathogenic
Select item 3646089	NM_017849.4(TMEM127):c.10C>G (p.Pro4Ala)	LOC129934333, TMEM127 (P4A)	Single nucleotide variant (missense variant +1 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3644809	NM_002382.5(MAX):c.289C>G (p.Gln97Glu)	MAX (S5R +3 more)	Single nucleotide variant (missense variant +3 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3644733	NM_017841.4(SDHAF2):c.261-13T>G	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3644693	NM_017841.4(SDHAF2):c.291G>T (p.Met97Ile)	SDHAF2 (M97I)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3644266	NM_002382.5(MAX):c.112del (p.His38fs)	MAX, MAX-AS1 (H29fs +2 more)	Deletion (non-coding transcript variant +3 more)	Hereditary pheochromocytoma-paraganglioma	GPathogenic
Select item 3644250	NM_017849.4(TMEM127):c.229C>A (p.Pro77Thr)	TMEM127 (P77T)	Single nucleotide variant (missense variant +1 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3643275	NM_017841.4(SDHAF2):c.371-3C>T	SDHAF2	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3642702	NM_002382.5(MAX):c.63+6T>A	MAX	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3642699	NM_002382.5(MAX):c.295+11G>C	MAX	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3642213	NM_002382.5(MAX):c.445C>A (p.Pro149Thr)	MAX (P113T +4 more)	Single nucleotide variant (missense variant +3 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3641056	NM_017849.4(TMEM127):c.410-15C>A	TMEM127	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3640511	NM_002382.5(MAX):c.50G>C (p.Arg17Thr)	MAX (R17T +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3640101	NM_002382.5(MAX):c.207_209del (p.Glu69_Tyr70delinsAsp)	MAX	Deletion (5 prime UTR variant +3 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3639103	NM_017849.4(TMEM127):c.400A>T (p.Ile134Phe)	TMEM127 (I50F +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3638612	NM_017841.4(SDHAF2):c.495A>G (p.Pro165=)	SDHAF2	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 3638273	NM_002382.5(MAX):c.200C>T (p.Ala67Val)	MAX (A31V +2 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3632817	NM_017841.4(SDHAF2):c.261-2A>G	SDHAF2	Single nucleotide variant (splice acceptor variant)	Hereditary pheochromocytoma-paraganglioma	GLikely pathogenic
Select item 3632625	NM_017849.4(TMEM127):c.458T>C (p.Leu153Pro)	TMEM127 (L153P +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance

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