ClinVar for Gene (Select 6392) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381964	NM_003002.4(SDHD):c.113_122del (p.Arg38fs)	SDHD (R38fs)	Deletion (frameshift variant +2 more)	Pheochromocytoma +3 more	GLikely pathogenic
Select item 3355278	NM_003002.4(SDHD):c.315-1681_315-1666del	SDHD (S120fs)	Deletion (frameshift variant +1 more)	SDHD-related disorder	GLikely pathogenic
Select item 3341862	NM_003002.4(SDHD):c.315-1697C>T	SDHD (R115W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3316921	NM_003002.4(SDHD):c.266C>T (p.Ser89Phe)	SDHD (S50F +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3316920	NM_003002.4(SDHD):c.181G>T (p.Ala61Ser)	SDHD (A61S +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3316917	NM_003002.4(SDHD):c.70C>G (p.Pro24Ala)	SDHD (P24A)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3316916	NM_003002.4(SDHD):c.43G>A (p.Gly15Arg)	LOC126861339, SDHD (G15R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3316915	NM_003002.4(SDHD):c.315-1594C>T	SDHD	Single nucleotide variant (splice donor variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3316914	NM_003002.4(SDHD):c.41T>C (p.Leu14Pro)	LOC126861339, SDHD (L14P)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3316911	NM_003002.4(SDHD):c.22A>C (p.Ser8Arg)	LOC126861339, SDHD (S8R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3244619	NC_000011.9:g.(?_111959651)_(111960112_?)del	SDHD	Deletion	Carney-Stratakis syndrome +3 more	GLikely pathogenic
Select item 3244617	NC_000011.9:g.(?_111957632)_(111958717_?)del	SDHD	Deletion	Carney-Stratakis syndrome +3 more	GPathogenic
Select item 3223045	NM_003002.4(SDHD):c.8T>C (p.Val3Ala)	LOC126861339, SDHD (V3A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223044	NM_003002.4(SDHD):c.459T>G (p.Val153=)	SDHD	Single nucleotide variant (3 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3223043	NM_003002.4(SDHD):c.381G>C (p.Gly127=)	SDHD (G79A)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3223041	NM_003002.4(SDHD):c.300T>C (p.Thr100=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3223040	NM_003002.4(SDHD):c.28G>C (p.Val10Leu)	LOC126861339, SDHD (V10L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3223039	NM_003002.4(SDHD):c.289_302del (p.Ala97fs)	SDHD (A58fs +1 more)	Deletion (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3223038	NM_003002.4(SDHD):c.190C>T (p.Leu64Phe)	SDHD (L25F +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223037	NM_003002.4(SDHD):c.170-5dup	SDHD	Duplication (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3075559	NM_003002.4(SDHD):c.173G>T (p.Gly58Val)	SDHD (G19V +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3075309	NM_003002.4(SDHD):c.186A>G (p.Ala62=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3075083	NM_003002.4(SDHD):c.259C>A (p.Pro87Thr)	SDHD (P48T +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3074801	NM_003002.4(SDHD):c.-15G>T	LOC126861339, SDHD	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3074747	NM_003002.4(SDHD):c.134G>T (p.Gly45Val)	SDHD (G45V)	Single nucleotide variant (missense variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3073916	NM_003002.4(SDHD):c.5C>A (p.Ala2Glu)	LOC126861339, SDHD (A2E)	Single nucleotide variant (missense variant +1 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3073872	NM_003002.4(SDHD):c.230T>A (p.Leu77Gln)	SDHD (L38Q +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3072724	NM_003002.4(SDHD):c.194A>C (p.His65Pro)	SDHD (H26P +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3072494	NM_003002.4(SDHD):c.-9A>C	LOC126861339, SDHD	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3071977	NM_003002.4(SDHD):c.470G>A (p.Trp157Ter)	SDHD (W118* +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3071560	NM_003002.4(SDHD):c.295C>A (p.Leu99Ile)	SDHD (L60I +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3070901	NM_003002.4(SDHD):c.299C>G (p.Thr100Ser)	SDHD (T100S +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3070697	NM_003002.4(SDHD):c.1_2insTTCATA	SDHD	Insertion (3 prime UTR variant +1 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3070443	NM_003002.4(SDHD):c.444C>A (p.Gly148=)	SDHD	Single nucleotide variant (3 prime UTR variant +2 more)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3053262	NM_003002.4(SDHD):c.315-1728C>T	SDHD	Single nucleotide variant (intron variant)	SDHD-related disorder	GLikely benign
Select item 3039330	NM_003002.4(SDHD):c.315-1735T>G	SDHD	Single nucleotide variant (intron variant)	SDHD-related disorder	GLikely benign
Select item 3032176	NM_003002.4(SDHD):c.-8G>A	LOC126861339, SDHD	Single nucleotide variant (5 prime UTR variant +1 more)	SDHD-related disorder	GLikely benign
Select item 3031002	NM_003002.4(SDHD):c.315-1653C>T	SDHD	Single nucleotide variant (synonymous variant +1 more)	SDHD-related disorder	GLikely benign
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)	Carney-Stratakis syndrome +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)	Carney-Stratakis syndrome +3 more	GLikely benign
Select item 2952447	NM_003002.4(SDHD):c.315-12dup	SDHD	Duplication (intron variant)	Carney-Stratakis syndrome +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)	Carney-Stratakis syndrome +3 more	GUncertain significance
Select item 2952184	NM_003002.4(SDHD):c.53-11T>C	SDHD	Single nucleotide variant (intron variant)	Carney-Stratakis syndrome +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)	Carney-Stratakis syndrome +3 more	GUncertain significance
Select item 2951764	NM_003002.4(SDHD):c.314+18A>C	SDHD	Single nucleotide variant (intron variant)	Carney-Stratakis syndrome +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)	Carney-Stratakis syndrome +3 more	GUncertain significance
Select item 2950998	NM_003002.4(SDHD):c.169+20G>T	SDHD	Single nucleotide variant (intron variant)	Carney-Stratakis syndrome +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)	Carney-Stratakis syndrome +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)	Carney-Stratakis syndrome +3 more	GUncertain significance
Select item 2949976	NM_003002.4(SDHD):c.170-2A>G	SDHD	Single nucleotide variant (splice acceptor variant +1 more)	Carney-Stratakis syndrome +3 more	GPathogenic
Select item 2949577	NM_003002.4(SDHD):c.261T>C (p.Pro87=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Cowden syndrome 3 +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)	Cowden syndrome 3 +3 more	GPathogenic
Select item 2949290	NM_003002.4(SDHD):c.323_324delinsTT (p.Gly108Val)	SDHD (D60F +2 more)	Indel (missense variant +2 more)	Cowden syndrome 3 +3 more	GUncertain significance
Select item 2948881	NM_003002.4(SDHD):c.189T>C (p.Ser63=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Cowden syndrome 3 +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)	Cowden syndrome 3 +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)	Cowden syndrome 3 +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)	Cowden syndrome 3 +3 more	GLikely benign
Select item 2947597	NM_003002.4(SDHD):c.132T>A (p.Cys44Ter)	SDHD (C44*)	Single nucleotide variant (nonsense +2 more)	Cowden syndrome 3 +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)	Cowden syndrome 3 +3 more	GUncertain significance
Select item 2946236	NM_003002.4(SDHD):c.246T>G (p.Ala82=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Cowden syndrome 3 +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)	Cowden syndrome 3 +3 more	GUncertain significance
Select item 2944527	NM_003002.4(SDHD):c.78C>T (p.Val26=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Carney-Stratakis syndrome +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)	Carney-Stratakis syndrome +3 more	GUncertain significance
Select item 2944065	NM_003002.4(SDHD):c.53-13A>G	SDHD	Single nucleotide variant (intron variant)	Carney-Stratakis syndrome +3 more	GLikely benign
Select item 2944022	NM_003002.4(SDHD):c.314+13A>G	SDHD	Single nucleotide variant (intron variant)	Carney-Stratakis syndrome +3 more	GLikely benign
Select item 2943961	NM_003002.4(SDHD):c.52+20T>C	LOC126861339, SDHD	Single nucleotide variant (intron variant)	Carney-Stratakis syndrome +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)	Carney-Stratakis syndrome +3 more	GUncertain significance
Select item 2943621	NM_003002.4(SDHD):c.53-20C>T	SDHD	Single nucleotide variant (intron variant)	Carney-Stratakis syndrome +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)	Carney-Stratakis syndrome +3 more	GUncertain significance
Select item 2942976	NM_003002.4(SDHD):c.53-10_53-9del	SDHD	Microsatellite (intron variant)	Carney-Stratakis syndrome +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)	Carney-Stratakis syndrome +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)	Carney-Stratakis syndrome +3 more	GUncertain significance
Select item 2942297	NM_003002.4(SDHD):c.170-12T>A	SDHD	Single nucleotide variant (intron variant)	Carney-Stratakis syndrome +3 more	GUncertain significance
Select item 2942156	NM_003002.4(SDHD):c.169+7TC[2]	SDHD	Microsatellite (intron variant)	Carney-Stratakis syndrome +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)	Carney-Stratakis syndrome +3 more	GUncertain significance
Select item 2941582	NM_003002.4(SDHD):c.170-20G>C	SDHD	Single nucleotide variant (intron variant)	Carney-Stratakis syndrome +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)	Carney-Stratakis syndrome +3 more	GUncertain significance
Select item 2940518	NM_003002.4(SDHD):c.150C>T (p.His50=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
Select item 2938501	NM_003002.4(SDHD):c.145A>G (p.Ile49Val)	SDHD (I49V)	Single nucleotide variant (missense variant +2 more)	Carney-Stratakis syndrome +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)	Carney-Stratakis syndrome +3 more	GUncertain significance
Select item 2937824	NM_003002.4(SDHD):c.75G>A (p.Val25=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Carney-Stratakis syndrome +3 more	GLikely benign
Select item 2936220	NM_003002.4(SDHD):c.52+11T>A	LOC126861339, SDHD	Single nucleotide variant (intron variant)	Carney-Stratakis syndrome +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)	Carney-Stratakis syndrome +3 more	GUncertain significance
Select item 2935317	NM_003002.4(SDHD):c.169+11T>C	SDHD	Single nucleotide variant (intron variant)	Carney-Stratakis syndrome +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)	Carney-Stratakis syndrome +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)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 2934030	NM_003002.4(SDHD):c.52+17C>G	LOC126861339, SDHD	Single nucleotide variant (intron variant)	Carney-Stratakis syndrome +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)	Carney-Stratakis syndrome +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)	Carney-Stratakis syndrome +3 more	GUncertain significance
Select item 2932046	NM_003002.4(SDHD):c.53-15T>C	SDHD	Single nucleotide variant (intron variant)	Carney-Stratakis syndrome +3 more	GLikely benign
Select item 2932043	NM_003002.4(SDHD):c.246T>A (p.Ala82=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Carney-Stratakis syndrome +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)	Carney-Stratakis syndrome +3 more	GPathogenic
Select item 2931181	NM_003002.4(SDHD):c.52+13C>T	LOC126861339, SDHD	Single nucleotide variant (intron variant)	Carney-Stratakis syndrome +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)	Carney-Stratakis syndrome +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)	Carney-Stratakis syndrome +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)	Carney-Stratakis syndrome +4 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)	Cowden syndrome 3 +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)	Cowden syndrome 3 +3 more	GPathogenic
Select item 2923520	NM_003002.4(SDHD):c.27C>G (p.Ala9=)	LOC126861339, SDHD	Single nucleotide variant (synonymous variant +1 more)	Cowden syndrome 3 +3 more	GLikely benign

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