ClinVar for MedGen (Select 358258) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 2949976	NM_003002.4(SDHD):c.170-2A>G	SDHD	Single nucleotide variant (splice acceptor variant +1 more)	Pheochromocytoma +3 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 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 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 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 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 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 2947597	NM_003002.4(SDHD):c.132T>A (p.Cys44Ter)	SDHD (C44*)	Single nucleotide variant (nonsense +2 more)	Pheochromocytoma +3 more	GPathogenic
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 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 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 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 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 2943621	NM_003002.4(SDHD):c.53-20C>T	SDHD	Single nucleotide variant (intron variant)	Pheochromocytoma +3 more	GLikely benign
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 2942976	NM_003002.4(SDHD):c.53-10_53-9del	SDHD	Microsatellite (intron variant)	Pheochromocytoma +3 more	GUncertain significance
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 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 2942156	NM_003002.4(SDHD):c.169+7TC[2]	SDHD	Microsatellite (intron variant)	Pheochromocytoma +3 more	GLikely benign
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
Select item 2940872	NM_003002.4(SDHD):c.10C>A (p.Leu4Ile)	LOC126861339, SDHD (L4I)	Single nucleotide variant (missense variant +1 more)	Paragangliomas with sensorineural hearing loss +3 more	GUncertain significance
Select item 2940518	NM_003002.4(SDHD):c.150C>T (p.His50=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Paragangliomas with sensorineural hearing loss +3 more	GLikely benign
Select item 2938501	NM_003002.4(SDHD):c.145A>G (p.Ile49Val)	SDHD (I49V)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +3 more	GUncertain significance
Select item 2938458	NM_003002.4(SDHD):c.365A>G (p.Lys122Arg)	SDHD (K122R +2 more)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +3 more	GUncertain significance
Select item 2937824	NM_003002.4(SDHD):c.75G>A (p.Val25=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Pheochromocytoma +3 more	GLikely benign
Select item 2936220	NM_003002.4(SDHD):c.52+11T>A	LOC126861339, SDHD	Single nucleotide variant (intron variant)	Paragangliomas with sensorineural hearing loss +3 more	GLikely benign
Select item 2935574	NM_003002.4(SDHD):c.173G>A (p.Gly58Asp)	SDHD (G19D +1 more)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +3 more	GUncertain significance
Select item 2935317	NM_003002.4(SDHD):c.169+11T>C	SDHD	Single nucleotide variant (intron variant)	Pheochromocytoma +3 more	GLikely benign
Select item 2934640	NM_003002.4(SDHD):c.115C>T (p.Pro39Ser)	SDHD (P39S)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +3 more	GUncertain significance
Select item 2934143	NM_003002.4(SDHD):c.398C>G (p.Ala133Gly)	SDHD (A133G +2 more)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +3 more	GUncertain significance
Select item 2934030	NM_003002.4(SDHD):c.52+17C>G	LOC126861339, SDHD	Single nucleotide variant (intron variant)	Pheochromocytoma +3 more	GLikely benign
Select item 2933592	NM_003002.4(SDHD):c.203G>C (p.Ser68Thr)	SDHD (S68T +1 more)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +3 more	GUncertain significance
Select item 2933102	NM_003002.4(SDHD):c.389C>T (p.Ala130Val)	SDHD (A130V +2 more)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +3 more	GUncertain significance
Select item 2932046	NM_003002.4(SDHD):c.53-15T>C	SDHD	Single nucleotide variant (intron variant)	Pheochromocytoma +3 more	GLikely benign
Select item 2932043	NM_003002.4(SDHD):c.246T>A (p.Ala82=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Pheochromocytoma +3 more	GLikely benign
Select item 2931847	NM_003002.4(SDHD):c.241_262del (p.Pro81fs)	SDHD (P42fs +1 more)	Deletion (frameshift variant +2 more)	Pheochromocytoma +3 more	GPathogenic
Select item 2931181	NM_003002.4(SDHD):c.52+13C>T	LOC126861339, SDHD	Single nucleotide variant (intron variant)	Pheochromocytoma +3 more	GLikely benign
Select item 2929526	NM_003002.4(SDHD):c.44G>A (p.Gly15Glu)	LOC126861339, SDHD (G15E)	Single nucleotide variant (missense variant +1 more)	Pheochromocytoma +3 more	GUncertain significance
Select item 2929331	NM_003002.4(SDHD):c.154T>G (p.Ser52Ala)	SDHD (S52A)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +3 more	GUncertain significance
Select item 2929227	NM_003002.4(SDHD):c.47G>A (p.Gly16Asp)	LOC126861339, SDHD (G16D)	Single nucleotide variant (missense variant +1 more)	Pheochromocytoma +3 more	GUncertain significance
Select item 2927196	NM_003002.4(SDHD):c.205G>T (p.Glu69Ter)	SDHD (E69* +1 more)	Single nucleotide variant (nonsense +2 more)	Pheochromocytoma +3 more	GPathogenic
Select item 2925495	NM_003002.4(SDHD):c.2T>C (p.Met1Thr)	LOC126861339, SDHD (M1T)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +3 more	GPathogenic
Select item 2923520	NM_003002.4(SDHD):c.27C>G (p.Ala9=)	LOC126861339, SDHD	Single nucleotide variant (synonymous variant +1 more)	Pheochromocytoma +3 more	GLikely benign
Select item 2922926	NM_003002.4(SDHD):c.314+19A>G	SDHD	Single nucleotide variant (intron variant)	Pheochromocytoma +3 more	GLikely benign
Select item 2922443	NM_003002.4(SDHD):c.260C>A (p.Pro87His)	SDHD (P48H +1 more)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +3 more	GUncertain significance
Select item 2922271	NM_003002.4(SDHD):c.14_30del (p.Trp5fs)	LOC126861339, SDHD (W5fs)	Deletion (frameshift variant +1 more)	Pheochromocytoma +3 more	GPathogenic
Select item 2922059	NM_003002.4(SDHD):c.213T>G (p.Val71=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Pheochromocytoma +3 more	GLikely benign
Select item 2922023	NM_003002.4(SDHD):c.353A>C (p.Asp118Ala)	SDHD (M70L +2 more)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +3 more	GUncertain significance
Select item 2921737	NM_003002.4(SDHD):c.42A>T (p.Leu14=)	LOC126861339, SDHD	Single nucleotide variant (synonymous variant +1 more)	Pheochromocytoma +3 more	GLikely benign
Select item 2921493	NM_003002.4(SDHD):c.378A>G (p.Ala126=)	SDHD (Q78R)	Single nucleotide variant (missense variant +3 more)	Pheochromocytoma +3 more	GLikely benign
Select item 2921469	NM_003002.4(SDHD):c.313T>C (p.Trp105Arg)	SDHD (W66R +1 more)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +3 more	GUncertain significance
Select item 2607655	NM_003002.4(SDHD):c.288T>G (p.Ala96=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
Select item 2587186	NM_003002.4(SDHD):c.443G>A (p.Gly148Asp)	SDHD (G109D +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 2580089	NM_003002.4(SDHD):c.370G>T (p.Ala124Ser)	SDHD (A124S +1 more)	Single nucleotide variant (synonymous variant +3 more)	not provided +4 more	GUncertain significance
Select item 2576885	NM_003002.4(SDHD):c.427A>C (p.Asn143His)	SDHD (N104H +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Carney-Stratakis syndrome +4 more	GUncertain significance
Select item 2567230	NM_003002.4(SDHD):c.276C>G (p.Asp92Glu)	SDHD (D53E +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 2567226	NM_003002.4(SDHD):c.125A>G (p.Glu42Gly)	SDHD (E42G)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 2561210	NM_003002.4(SDHD):c.269C>G (p.Ala90Gly)	SDHD (A90G +1 more)	Single nucleotide variant (missense variant +2 more)	Carney-Stratakis syndrome +4 more	GUncertain significance
Select item 2424604	NC_000011.9:g.(?_111171709)_(111958707_?)del	NKAPD1, POU2AF1 +20 more	Deletion	Pheochromocytoma +3 more	GPathogenic
Select item 2424603	NC_000011.9:g.(?_111957547)_(111959745_?)dup	SDHD	Duplication	Paragangliomas with sensorineural hearing loss +3 more	GUncertain significance
Select item 2424602	NC_000011.9:g.(?_111171709)_(111959745_?)del	ALG9, BTG4 +20 more	Deletion	Paragangliomas with sensorineural hearing loss +3 more	GPathogenic
Select item 2226832	NM_003002.4(SDHD):c.198G>A (p.Trp66Ter)	SDHD (W27* +1 more)	Single nucleotide variant (intron variant +2 more)	Paragangliomas with sensorineural hearing loss +4 more	GPathogenic
Select item 2151603	NM_003002.4(SDHD):c.34G>C (p.Gly12Arg)	LOC126861339, SDHD (G12R)	Single nucleotide variant (missense variant +1 more)	Pheochromocytoma +3 more	GUncertain significance
Select item 2151025	NM_003002.4(SDHD):c.169+16C>T	SDHD	Single nucleotide variant (intron variant)	Pheochromocytoma +3 more	GLikely benign
Select item 2145185	NM_003002.4(SDHD):c.408T>A (p.Phe136Leu)	SDHD (F136L +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Pheochromocytoma +3 more	GUncertain significance
Select item 2144725	NM_003002.4(SDHD):c.170-10C>A	SDHD	Single nucleotide variant (intron variant)	Pheochromocytoma +3 more	GLikely benign
Select item 2144324	NM_003002.4(SDHD):c.314+17C>T	SDHD	Single nucleotide variant (intron variant)	Pheochromocytoma +3 more	GLikely benign
Select item 2134043	NM_003002.4(SDHD):c.102T>G (p.Phe34Leu)	SDHD (F34L)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +3 more	GUncertain significance
Select item 2131874	NM_003002.4(SDHD):c.21G>T (p.Leu7=)	LOC126861339, SDHD	Single nucleotide variant (synonymous variant +1 more)	Pheochromocytoma +3 more	GLikely benign
Select item 2131604	NM_003002.4(SDHD):c.247G>A (p.Ala83Thr)	SDHD (A44T +1 more)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +3 more	GUncertain significance
Select item 2127451	NM_003002.4(SDHD):c.53-3C>T	SDHD	Single nucleotide variant (intron variant)	Carney-Stratakis syndrome +4 more	GUncertain significance
Select item 2125709	NM_003002.4(SDHD):c.52+18C>T	LOC126861339, SDHD	Single nucleotide variant (intron variant)	Carney-Stratakis syndrome +3 more	GLikely benign
Select item 2121262	NM_003002.4(SDHD):c.62T>C (p.Leu21Pro)	SDHD (L21P)	Single nucleotide variant (missense variant +2 more)	Carney-Stratakis syndrome +3 more	GUncertain significance
Select item 2119223	NM_003002.4(SDHD):c.251A>C (p.Tyr84Ser)	SDHD (Y84S +1 more)	Single nucleotide variant (missense variant +2 more)	Paragangliomas with sensorineural hearing loss +3 more	GUncertain significance
Select item 2118541	NM_003002.4(SDHD):c.307G>C (p.Gly103Arg)	SDHD (G103R +1 more)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +4 more	GUncertain significance
Select item 2100933	NM_003002.4(SDHD):c.393T>C (p.Leu131=)	SDHD (F83S)	Single nucleotide variant (missense variant +3 more)	Carney-Stratakis syndrome +3 more	GLikely benign
Select item 2095091	NM_003002.4(SDHD):c.102T>A (p.Phe34Leu)	SDHD (F34L)	Single nucleotide variant (missense variant +2 more)	Carney-Stratakis syndrome +3 more	GUncertain significance
Select item 2093495	NM_003002.4(SDHD):c.314+15T>A	SDHD	Single nucleotide variant (intron variant)	Cowden syndrome 3 +3 more	GLikely benign
Select item 2089900	NM_003002.4(SDHD):c.53-2A>C	SDHD	Single nucleotide variant (splice acceptor variant +1 more)	Cowden syndrome 3 +3 more	GLikely pathogenic
Select item 2088787	NM_003002.4(SDHD):c.390A>G (p.Ala130=)	SDHD (H82R)	Single nucleotide variant (missense variant +3 more)	Cowden syndrome 3 +3 more	GLikely benign
Select item 2084230	NM_003002.4(SDHD):c.264C>A (p.Cys88Ter)	SDHD (C88* +1 more)	Single nucleotide variant (nonsense +2 more)	Carney-Stratakis syndrome +3 more	GPathogenic

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