ClinVar for MedGen (Select 18419) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062352	Single allele	ADRA2B, ASTL +4 more	Deletion	Pheochromocytoma	GUncertain significance
Select item 2954035	NM_003000.3(SDHB):c.84_141dup (p.Asp48fs)	SDHB (D48fs)	Duplication (frameshift variant)	Pheochromocytoma +2 more	GPathogenic
Select item 2953788	NM_003000.3(SDHB):c.272G>C (p.Arg91Thr)	SDHB (R91T)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2953758	NM_003002.4(SDHD):c.479G>C (p.Ter160Ser)	SDHD	Single nucleotide variant (3 prime UTR variant +2 more)	Carney-Stratakis syndrome +3 more	GUncertain significance
Select item 2953496	NM_003000.3(SDHB):c.690C>A (p.Arg230=)	SDHB	Single nucleotide variant (synonymous variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2953446	NM_003002.4(SDHD):c.464T>C (p.Met155Thr)	SDHD (M116T +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Pheochromocytoma +3 more	GUncertain significance
Select item 2952772	NM_003002.4(SDHD):c.375G>A (p.Lys125=)	SDHD (R77K)	Single nucleotide variant (missense variant +3 more)	Pheochromocytoma +3 more	GLikely benign
Select item 2952447	NM_003002.4(SDHD):c.315-12dup	SDHD	Duplication (intron variant)	Pheochromocytoma +3 more	GLikely benign
Select item 2952299	NM_003000.3(SDHB):c.154G>T (p.Ala52Ser)	SDHB (A52S)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2952268	NM_003002.4(SDHD):c.190C>G (p.Leu64Val)	SDHD (L25V +1 more)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +3 more	GUncertain significance
Select item 2952214	NM_003000.3(SDHB):c.797T>A (p.Ile266Asn)	SDHB (I248N +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2952184	NM_003002.4(SDHD):c.53-11T>C	SDHD	Single nucleotide variant (intron variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 2951881	NM_003002.4(SDHD):c.376G>T (p.Ala126Ser)	SDHD (A126S +2 more)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +3 more	GUncertain significance
Select item 2951764	NM_003002.4(SDHD):c.314+18A>C	SDHD	Single nucleotide variant (intron variant)	Pheochromocytoma +3 more	GLikely benign
Select item 2951656	NM_003000.3(SDHB):c.233A>T (p.Lys78Met)	SDHB (K78M)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2951573	NM_003000.3(SDHB):c.128C>T (p.Ala43Val)	SDHB (A43V)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +3 more	GUncertain significance
Select item 2951425	NM_003000.3(SDHB):c.756C>T (p.Thr252=)	SDHB	Single nucleotide variant (synonymous variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2951056	NM_003002.4(SDHD):c.466C>G (p.Leu156Val)	SDHD (L117V +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Pheochromocytoma +3 more	GUncertain significance
Select item 2950998	NM_003002.4(SDHD):c.169+20G>T	SDHD	Single nucleotide variant (intron variant)	Pheochromocytoma +3 more	GLikely benign
Select item 2950903	NM_003002.4(SDHD):c.352_353delinsAT (p.Asp118Ile)	SDHD (D118I +2 more)	Indel (missense variant +2 more)	Pheochromocytoma +3 more	GUncertain significance
Select item 2950880	NM_003000.3(SDHB):c.174G>A (p.Met58Ile)	SDHB (M58I)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2950703	NM_003000.3(SDHB):c.654G>C (p.Trp218Cys)	SDHB (W200C +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2950569	NM_003000.3(SDHB):c.424-5C>T	SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2950511	NM_003002.4(SDHD):c.380G>A (p.Gly127Glu)	SDHD (G79S +2 more)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +3 more	GUncertain significance
Select item 2950230	NM_003000.3(SDHB):c.643-14C>A	SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2950080	NM_003000.3(SDHB):c.500A>G (p.Lys167Arg)	SDHB (K167R +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2949976	NM_003002.4(SDHD):c.170-2A>G	SDHD	Single nucleotide variant (splice acceptor variant +1 more)	Pheochromocytoma +3 more	GPathogenic
Select item 2949817	NM_003000.3(SDHB):c.784del (p.Ala262fs)	SDHB (A244fs +1 more)	Deletion (frameshift variant)	Pheochromocytoma +2 more	GPathogenic
Select item 2949787	NM_003000.3(SDHB):c.286+17T>C	SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2949595	NM_003000.3(SDHB):c.385C>A (p.Pro129Thr)	SDHB (P129T)	Single nucleotide variant (missense variant +1 more)	Pheochromocytoma +2 more	GUncertain significance
Select item 2949579	NM_003000.3(SDHB):c.146del (p.Pro49fs)	SDHB (P49fs)	Deletion (frameshift variant)	Pheochromocytoma +2 more	GPathogenic
Select item 2949577	NM_003002.4(SDHD):c.261T>C (p.Pro87=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Pheochromocytoma +3 more	GLikely benign
Select item 2949572	NM_003002.4(SDHD):c.273_274dup (p.Asp92fs)	SDHD (D53fs +1 more)	Duplication (frameshift variant +2 more)	Pheochromocytoma +3 more	GPathogenic
Select item 2949466	NM_003000.3(SDHB):c.670G>A (p.Asp224Asn)	SDHB (D224N +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2949365	NM_003000.3(SDHB):c.766-4C>A	SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2949290	NM_003002.4(SDHD):c.323_324delinsTT (p.Gly108Val)	SDHD (D60F +2 more)	Indel (missense variant +2 more)	Pheochromocytoma +3 more	GUncertain significance
Select item 2949287	NM_003000.3(SDHB):c.751_754del (p.Arg251fs)	SDHB (R233fs +1 more)	Deletion (frameshift variant)	Pheochromocytoma +2 more	GPathogenic
Select item 2949037	NM_003000.3(SDHB):c.541-12C>T	SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2948917	NM_003000.3(SDHB):c.201-1G>C	SDHB	Single nucleotide variant (splice acceptor variant)	Pheochromocytoma +2 more	GPathogenic
Select item 2948913	NM_003000.3(SDHB):c.24C>G (p.Ser8=)	SDHB	Single nucleotide variant (synonymous variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2948912	NM_003000.3(SDHB):c.146C>A (p.Pro49Gln)	SDHB (P49Q)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2948881	NM_003002.4(SDHD):c.189T>C (p.Ser63=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Pheochromocytoma +3 more	GLikely benign
Select item 2948839	NM_003000.3(SDHB):c.729C>T (p.Cys243=)	SDHB	Single nucleotide variant (synonymous variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2948797	NM_003002.4(SDHD):c.274G>A (p.Asp92Asn)	SDHD (D92N +1 more)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +3 more	GUncertain significance
Select item 2948490	NM_003000.3(SDHB):c.67C>T (p.Leu23=)	LOC129929542, SDHB	Single nucleotide variant (synonymous variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2948406	NM_003000.3(SDHB):c.286G>C (p.Gly96Arg)	SDHB (G96R)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2948182	NM_003002.4(SDHD):c.181G>C (p.Ala61Pro)	SDHD (A22P +1 more)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +3 more	GUncertain significance
Select item 2948181	NM_003000.3(SDHB):c.411G>C (p.Lys137Asn)	SDHB (K137N)	Single nucleotide variant (missense variant +1 more)	Pheochromocytoma +2 more	GUncertain significance
Select item 2947761	NM_003002.4(SDHD):c.477C>G (p.Leu159=)	SDHD	Single nucleotide variant (3 prime UTR variant +2 more)	Pheochromocytoma +3 more	GLikely benign
Select item 2947609	NM_003000.3(SDHB):c.761C>G (p.Pro254Arg)	SDHB (P236R +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2947597	NM_003002.4(SDHD):c.132T>A (p.Cys44Ter)	SDHD (C44*)	Single nucleotide variant (nonsense +2 more)	Pheochromocytoma +3 more	GPathogenic
Select item 2947224	NM_003000.3(SDHB):c.236T>C (p.Ile79Thr)	SDHB (I79T)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2947194	NM_003000.3(SDHB):c.478A>G (p.Lys160Glu)	SDHB (K160E +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2947049	NM_003000.3(SDHB):c.281G>T (p.Arg94Ile)	SDHB (R94I)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2947022	NM_003000.3(SDHB):c.452A>G (p.Lys151Arg)	SDHB (K151R +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2946972	NM_003000.3(SDHB):c.424-14_424-13insCTC	SDHB	Insertion (intron variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2946935	NM_003000.3(SDHB):c.287-10_295del	SDHB	Deletion (splice acceptor variant)	Pheochromocytoma +2 more	GLikely pathogenic
Select item 2946630	NM_003000.3(SDHB):c.456C>A (p.Ser152=)	SDHB	Single nucleotide variant (synonymous variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2946446	NM_003002.4(SDHD):c.179A>C (p.Lys60Thr)	SDHD (K21T +1 more)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +3 more	GUncertain significance
Select item 2946333	NM_003000.3(SDHB):c.283G>C (p.Glu95Gln)	SDHB (E95Q)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2946236	NM_003002.4(SDHD):c.246T>G (p.Ala82=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Pheochromocytoma +3 more	GLikely benign
Select item 2946066	NM_003000.3(SDHB):c.273A>C (p.Arg91Ser)	SDHB (R91S)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2946059	NM_003002.4(SDHD):c.94T>G (p.Ser32Ala)	SDHD (S32A)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +3 more	GUncertain significance
Select item 2946014	NM_003000.3(SDHB):c.423+19C>T	SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2945793	NM_003000.3(SDHB):c.766-18C>T	LOC129929541, SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2945656	NM_003000.3(SDHB):c.638T>G (p.Met213Arg)	SDHB (M213R +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2945424	NM_003000.3(SDHB):c.788T>C (p.Ile263Thr)	SDHB (I263T +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2945382	NM_003000.3(SDHB):c.60A>C (p.Gly20=)	LOC129929542, SDHB	Single nucleotide variant (synonymous variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2945347	NM_003000.3(SDHB):c.712T>G (p.Phe238Val)	SDHB (F238V +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2945164	NM_003000.3(SDHB):c.287-20T>A	SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2944626	NM_003000.3(SDHB):c.526G>A (p.Glu176Lys)	SDHB (E158K +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2944527	NM_003002.4(SDHD):c.78C>T (p.Val26=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Pheochromocytoma +3 more	GLikely benign
Select item 2944260	NM_003002.4(SDHD):c.308G>A (p.Gly103Asp)	SDHD (G103D +1 more)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +3 more	GUncertain significance
Select item 2944065	NM_003002.4(SDHD):c.53-13A>G	SDHD	Single nucleotide variant (intron variant)	Pheochromocytoma +3 more	GLikely benign
Select item 2944022	NM_003002.4(SDHD):c.314+13A>G	SDHD	Single nucleotide variant (intron variant)	Pheochromocytoma +3 more	GLikely benign
Select item 2943961	NM_003002.4(SDHD):c.52+20T>C	LOC126861339, SDHD	Single nucleotide variant (intron variant)	Pheochromocytoma +3 more	GLikely benign
Select item 2943933	NM_003000.3(SDHB):c.80G>C (p.Arg27Pro)	SDHB (R27P)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2943884	NM_003002.4(SDHD):c.331G>C (p.Val111Leu)	SDHD (L62F +2 more)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +3 more	GUncertain significance
Select item 2943668	NM_003000.3(SDHB):c.541-16T>G	SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2943622	NM_003000.3(SDHB):c.556T>C (p.Cys186Arg)	SDHB (C168R +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2943621	NM_003002.4(SDHD):c.53-20C>T	SDHD	Single nucleotide variant (intron variant)	Pheochromocytoma +3 more	GLikely benign
Select item 2943611	NM_003000.3(SDHB):c.824A>T (p.Glu275Val)	SDHB (E257V +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2943394	NM_003000.3(SDHB):c.508dup (p.Tyr170fs)	SDHB (Y152fs +1 more)	Duplication (frameshift variant)	Pheochromocytoma +2 more	GPathogenic
Select item 2943283	NM_003002.4(SDHD):c.478T>G (p.Ter160Gly)	SDHD	Single nucleotide variant (3 prime UTR variant +2 more)	Pheochromocytoma +3 more	GUncertain significance
Select item 2943055	NM_003000.3(SDHB):c.664T>C (p.Ser222Pro)	SDHB (S222P +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2942979	NM_003000.3(SDHB):c.777A>G (p.Pro259=)	SDHB	Single nucleotide variant (synonymous variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2942976	NM_003002.4(SDHD):c.53-10_53-9del	SDHD	Microsatellite (intron variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 2942952	NM_003000.3(SDHB):c.73-19G>A	SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2942933	NM_003002.4(SDHD):c.179A>G (p.Lys60Arg)	SDHD (K60R +1 more)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +3 more	GUncertain significance
Select item 2942785	NM_003000.3(SDHB):c.496G>C (p.Gly166Arg)	SDHB (G166R +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2942599	NM_003000.3(SDHB):c.598T>G (p.Trp200Gly)	SDHB (W182G +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2942563	NM_003002.4(SDHD):c.315G>T (p.Trp105Cys)	SDHD (W57L +2 more)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +3 more	GUncertain significance
Select item 2942297	NM_003002.4(SDHD):c.170-12T>A	SDHD	Single nucleotide variant (intron variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 2942161	NM_003000.3(SDHB):c.541-13_541-12insGCTCCTGCCTCTCTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCGGCAAAGACTGAGACAGCTCCGCTGCCCGCTGAACTCCATCCTCCCGGCGGTCGGGCGGCGGCGGCTGCGC	SDHB	Microsatellite (intron variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2942156	NM_003002.4(SDHD):c.169+7TC[2]	SDHD	Microsatellite (intron variant)	Pheochromocytoma +3 more	GLikely benign
Select item 2941954	NM_003000.3(SDHB):c.423+11G>A	SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2941917	NM_003000.3(SDHB):c.72+3G>C	LOC129929542, SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2941695	NM_003000.3(SDHB):c.824A>C (p.Glu275Ala)	SDHB (E257A +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2941640	NM_003002.4(SDHD):c.47G>T (p.Gly16Val)	LOC126861339, SDHD (G16V)	Single nucleotide variant (missense variant +1 more)	Pheochromocytoma +3 more	GUncertain significance
Select item 2941582	NM_003002.4(SDHD):c.170-20G>C	SDHD	Single nucleotide variant (intron variant)	Paragangliomas with sensorineural hearing loss +3 more	GLikely benign

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