ClinVar for PubMed (Select 19802898) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2954035	NM_003000.3(SDHB):c.84_141dup (p.Asp48fs)	SDHB (D48fs)	Duplication (frameshift variant)	Pheochromocytoma +2 more	GPathogenic
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 2949579	NM_003000.3(SDHB):c.146del (p.Pro49fs)	SDHB (P49fs)	Deletion (frameshift variant)	Pheochromocytoma +2 more	GPathogenic
Select item 2948917	NM_003000.3(SDHB):c.201-1G>C	SDHB	Single nucleotide variant (splice acceptor variant)	Pheochromocytoma +2 more	GPathogenic
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 2947597	NM_003002.4(SDHD):c.132T>A (p.Cys44Ter)	SDHD (C44*)	Single nucleotide variant (nonsense +2 more)	Pheochromocytoma +3 more	GPathogenic
Select item 2946935	NM_003000.3(SDHB):c.287-10_295del	SDHB	Deletion (splice acceptor variant)	Pheochromocytoma +2 more	GLikely pathogenic
Select item 2943394	NM_003000.3(SDHB):c.508dup (p.Tyr170fs)	SDHB (Y152fs +1 more)	Duplication (frameshift variant)	Pheochromocytoma +2 more	GPathogenic
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 2940286	NM_003000.3(SDHB):c.649C>A (p.Arg217Ser)	SDHB (R199S +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
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 2925290	NM_003000.3(SDHB):c.607G>T (p.Gly203Ter)	SDHB (G203* +1 more)	Single nucleotide variant (nonsense)	Pheochromocytoma +2 more	GPathogenic
Select item 2925288	NM_003000.3(SDHB):c.703C>T (p.Gln235Ter)	SDHB (Q235* +1 more)	Single nucleotide variant (nonsense)	Pheochromocytoma +2 more	GPathogenic
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 2562717	NM_003000.3(SDHB):c.419T>A (p.Val140Asp)	SDHB (V140D)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2424604	NC_000011.9:g.(?_111171709)_(111958707_?)del	NKAPD1, POU2AF1 +20 more	Deletion	Pheochromocytoma +3 more	GPathogenic
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 2424598	NC_000001.10:g.(?_17359545)_(17359650_?)dup	SDHB	Duplication	Pheochromocytoma +2 more	GLikely pathogenic
Select item 2424597	NC_000001.10:g.(?_17371256)_(17371383_?)dup	SDHB	Duplication	Pheochromocytoma +2 more	GLikely pathogenic
Select item 2424596	NC_000001.10:g.(?_17359545)_(17380514_?)del	SDHB	Deletion	Pheochromocytoma +2 more	GPathogenic
Select item 2424595	NC_000001.10:g.(?_17371246)_(17380514_?)del	SDHB	Deletion	Pheochromocytoma +2 more	GPathogenic
Select item 2226832	NM_003002.4(SDHD):c.198G>A (p.Trp66Ter)	SDHD (W27* +1 more)	Single nucleotide variant (nonsense +2 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 2090127	NM_003000.3(SDHB):c.134_138dup (p.Trp47fs)	SDHB (W47fs)	Duplication (frameshift variant)	Paragangliomas 4 +2 more	GPathogenic
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 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
Select item 2035265	NM_003002.4(SDHD):c.136_143del (p.Val46fs)	SDHD (V46fs)	Deletion (frameshift variant +2 more)	Pheochromocytoma +3 more	GPathogenic
Select item 2032357	NM_003000.3(SDHB):c.666_667del (p.Arg223_Asp224insTer)	SDHB	Deletion (frameshift variant +1 more)	Paragangliomas 4 +2 more	GPathogenic
Select item 1997048	NM_003000.3(SDHB):c.473del (p.Lys158fs)	SDHB (K158fs)	Deletion (frameshift variant)	Paragangliomas 4 +2 more	GPathogenic
Select item 1917924	NM_003002.4(SDHD):c.15G>A (p.Trp5Ter)	LOC126861339, SDHD (W5*)	Single nucleotide variant (nonsense +1 more)	Paragangliomas with sensorineural hearing loss +3 more	GPathogenic
Select item 1916161	NM_003000.3(SDHB):c.637dup (p.Met213fs)	SDHB (M213fs)	Duplication (frameshift variant)	Paragangliomas 4 +2 more	GPathogenic
Select item 1746035	NM_003002.4(SDHD):c.52+1_52+2delinsAA	LOC126861339, SDHD	Indel (splice donor variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 1508537	NM_003000.3(SDHB):c.73-2A>T	SDHB	Single nucleotide variant (splice acceptor variant)	Hereditary pheochromocytoma-paraganglioma +3 more	GLikely pathogenic
Select item 1508419	NC_000001.10:g.(?_17354234)_(17359650_?)dup	SDHB	Duplication	Pheochromocytoma +2 more	GLikely pathogenic
Select item 1474531	NM_003000.3(SDHB):c.286G>T (p.Gly96Cys)	SDHB (G96C)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GLikely pathogenic
Select item 1459398	NM_003000.3(SDHB):c.42_43insCACTCTCCTTGAGGCGCCGGTTGCCG (p.Ala15delinsHisSerProTer)	SDHB	Insertion (nonsense)	Pheochromocytoma +2 more	GPathogenic
Select item 1457554	NM_003000.3(SDHB):c.325_335del (p.Asn109fs)	SDHB (N109fs)	Deletion (frameshift variant)	Pheochromocytoma +2 more	GPathogenic
Select item 1457320	NM_003002.4(SDHD):c.224del (p.Leu75fs)	SDHD (L36fs +1 more)	Deletion (intron variant +2 more)	Paragangliomas with sensorineural hearing loss +3 more	GPathogenic
Select item 1456918	NM_003000.3(SDHB):c.249del (p.Asp84fs)	SDHB (D84fs)	Deletion (frameshift variant)	Pheochromocytoma +2 more	GPathogenic
Select item 1456703	NM_003000.3(SDHB):c.22dup (p.Ser8fs)	SDHB (S8fs)	Duplication (frameshift variant)	Pheochromocytoma +2 more	GPathogenic
Select item 1456331	NM_003000.3(SDHB):c.75del (p.Ser26fs)	SDHB (S26fs)	Deletion (frameshift variant)	Pheochromocytoma +2 more	GPathogenic
Select item 1455849	NM_003000.3(SDHB):c.243_246dup (p.Val83Ter)	SDHB (V83*)	Duplication (nonsense)	Pheochromocytoma +2 more	GPathogenic
Select item 1455650	NC_000001.10:g.(?_17349093)_(17380514_?)del	SDHB	Deletion	Pheochromocytoma +2 more	GPathogenic
Select item 1455596	NM_003002.4(SDHD):c.169+1G>A	SDHD	Single nucleotide variant (splice donor variant +1 more)	Paragangliomas with sensorineural hearing loss +3 more	GPathogenic
Select item 1453077	NM_003002.4(SDHD):c.169+1G>T	SDHD	Single nucleotide variant (splice donor variant +1 more)	Pheochromocytoma +3 more	GPathogenic
Select item 1443907	NM_003000.3(SDHB):c.450C>G (p.Tyr150Ter)	SDHB (Y150*)	Single nucleotide variant (nonsense)	Paragangliomas 4 +2 more	GPathogenic
Select item 1425395	NM_003000.3(SDHB):c.598dup (p.Trp200fs)	SDHB (W200fs)	Duplication (frameshift variant)	Paragangliomas 4 +2 more	GPathogenic/Likely pathogenic
Select item 1400077	NM_003000.3(SDHB):c.484G>T (p.Glu162Ter)	SDHB (E162*)	Single nucleotide variant (nonsense)	Gastrointestinal stromal tumor +2 more	GPathogenic
Select item 1381081	NM_003000.3(SDHB):c.19_41dup (p.Pro14_Ala15insSerProTer)	SDHB	Indel (nonsense +1 more)	Paragangliomas 4 +2 more	GPathogenic
Select item 1380234	NM_003000.3(SDHB):c.183T>A (p.Tyr61Ter)	SDHB (Y61*)	Single nucleotide variant (nonsense)	Paragangliomas 4 +2 more	GPathogenic
Select item 1371694	NM_003000.3(SDHB):c.445_446dup (p.Gln149fs)	SDHB (Q149fs)	Microsatellite (frameshift variant)	Paragangliomas 4 +2 more	GPathogenic
Select item 1363102	NM_003000.3(SDHB):c.598del (p.Trp200fs)	SDHB (W200fs)	Deletion (frameshift variant)	Gastrointestinal stromal tumor +2 more	GPathogenic
Select item 1319258	NM_003002.4(SDHD):c.49C>T (p.Arg17Ter)	LOC126861339, SDHD (R17*)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic
Select item 1285202	NM_003000.3(SDHB):c.200+1G>A	SDHB	Single nucleotide variant (splice donor variant)	Paragangliomas 4 +2 more	GPathogenic
Select item 1076624	NC_000011.9:g.(?_111957547)_(111958707_?)del	SDHD	Deletion	Pheochromocytoma +3 more	GPathogenic
Select item 1074491	NM_003000.3(SDHB):c.17_18insACTCTCCTTGAGGCGCCGGTTGC (p.Ala15fs)	SDHB (A15fs)	Insertion (frameshift variant)	Gastrointestinal stromal tumor +2 more	GPathogenic
Select item 1070347	NM_003000.3(SDHB):c.466del (p.Tyr156fs)	SDHB (Y156fs)	Deletion (frameshift variant)	Gastrointestinal stromal tumor +2 more	GPathogenic
Select item 1069440	NM_003000.3(SDHB):c.412del (p.Asp138fs)	SDHB (D138fs)	Deletion (frameshift variant)	Gastrointestinal stromal tumor +3 more	GPathogenic
Select item 1067485	NM_003002.4(SDHD):c.53-1G>T	SDHD	Single nucleotide variant (splice acceptor variant +1 more)	Cowden syndrome 3 +3 more	GLikely pathogenic
Select item 1066038	NM_003000.3(SDHB):c.424-2A>G	SDHB	Single nucleotide variant (splice acceptor variant)	Gastrointestinal stromal tumor +3 more	GPathogenic/Likely pathogenic
Select item 1065988	NM_003000.3(SDHB):c.200+1G>C	SDHB	Single nucleotide variant (splice donor variant)	Gastrointestinal stromal tumor +2 more	GPathogenic
Select item 992238	NM_003000.3(SDHB):c.470del (p.Tyr156_Leu157insTer)	SDHB	Deletion (nonsense)	Pheochromocytoma +4 more	GPathogenic
Select item 986848	NM_003002.4(SDHD):c.113_116dup (p.Ile40fs)	SDHD (I40fs)	Microsatellite (frameshift variant +2 more)	Cowden syndrome 3 +4 more	GPathogenic/Likely pathogenic
Select item 967921	NM_003000.3(SDHB):c.650G>T (p.Arg217Leu)	SDHB (R217L)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GLikely pathogenic
Select item 967746	NM_003000.3(SDHB):c.135T>G (p.Tyr45Ter)	SDHB (Y45*)	Single nucleotide variant (nonsense)	Gastrointestinal stromal tumor +2 more	GPathogenic
Select item 964700	NM_003002.4(SDHD):c.124_127delinsATA (p.Glu42fs)	SDHD (E42fs)	Indel (frameshift variant +2 more)	Carney-Stratakis syndrome +3 more	GPathogenic
Select item 959874	NM_003002.4(SDHD):c.139C>T (p.Gln47Ter)	SDHD (Q47*)	Single nucleotide variant (nonsense +2 more)	Carney-Stratakis syndrome +4 more	GPathogenic
Select item 951355	NM_003000.3(SDHB):c.523dup (p.Glu175fs)	SDHB (E175fs)	Duplication (frameshift variant)	Gastrointestinal stromal tumor +2 more	GPathogenic
Select item 941528	NM_003002.4(SDHD):c.44_52+24del	LOC126861339, SDHD	Deletion (splice donor variant)	Paragangliomas with sensorineural hearing loss +3 more	GLikely pathogenic
Select item 941363	NM_003000.3(SDHB):c.338G>A (p.Cys113Tyr)	SDHB (C113Y)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GPathogenic
Select item 870269	Single allele	SDHB	Insertion	Pheochromocytoma +2 more	GPathogenic
Select item 858190	NM_003000.3(SDHB):c.379A>G (p.Ile127Val)	SDHB (I127V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 832529	NC_000001.11:g.(?_17018881)_(17054019_?)del	SDHB	Deletion	Paragangliomas 4 +2 more	GPathogenic
Select item 825543	NM_003002.4(SDHD):c.52+1G>A	LOC126861339, SDHD	Single nucleotide variant (splice donor variant)	Pheochromocytoma +4 more	GPathogenic
Select item 664893	NM_003000.3(SDHB):c.70C>T (p.Gln24Ter)	LOC129929542, SDHB (Q24*)	Single nucleotide variant (nonsense)	Paragangliomas 4 +2 more	GPathogenic
Select item 664580	NM_003000.3(SDHB):c.653G>A (p.Trp218Ter)	SDHB (W218*)	Single nucleotide variant (nonsense)	Paragangliomas 4 +2 more	GPathogenic
Select item 663854	NM_003002.4(SDHD):c.52+2T>C	LOC126861339, SDHD	Single nucleotide variant (splice donor variant)	Carney-Stratakis syndrome +3 more	GPathogenic
Select item 662440	NM_003000.3(SDHB):c.656_707dup (p.Asp236_Pro237insAspTer)	SDHB	Duplication (nonsense +1 more)	Paragangliomas 4 +2 more	GPathogenic
Select item 658395	NM_003000.3(SDHB):c.63dup (p.Cys22fs)	LOC129929542, SDHB (C22fs)	Duplication (frameshift variant)	Gastrointestinal stromal tumor +2 more	GPathogenic
Select item 656223	NM_003000.3(SDHB):c.143_144dup (p.Pro49fs)	SDHB (P49fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 649629	NC_000001.11:g.(?_17044751)_(17044898_?)del	SDHB	Deletion	Gastrointestinal stromal tumor +2 more	GPathogenic
Select item 642173	NM_003000.3(SDHB):c.609_622dup (p.Gly208fs)	SDHB (G208fs)	Duplication (frameshift variant)	Pheochromocytoma +2 more	GPathogenic
Select item 618362	NM_003002.4(SDHD):c.13_14del (p.Trp5fs)	LOC126861339, SDHD (W5fs)	Deletion (frameshift variant +1 more)	Paragangliomas 1 +5 more	GPathogenic
Select item 584168	NC_000011.10:g.(?_112086898)_(112094980_?)del	LOC126861339, SDHD	Deletion	Carney-Stratakis syndrome +4 more	GPathogenic
Select item 583582	NC_000001.11:g.(?_17053938)_(17054029_?)del	LOC129929542, SDHB	Deletion	Gastrointestinal stromal tumor +2 more	GPathogenic
Select item 583569	NC_000001.11:g.(?_17033050)_(17033155_?)del	SDHB	Deletion	Gastrointestinal stromal tumor +2 more	GPathogenic
Select item 579812	NM_003002.4(SDHD):c.53-1_53delinsTT	SDHD	Indel (splice acceptor variant +1 more)	Paragangliomas 1 +3 more	GLikely pathogenic
Select item 579501	NM_003000.3(SDHB):c.399dup (p.Tyr134fs)	SDHB (Y134fs)	Duplication (frameshift variant)	Gastrointestinal stromal tumor +2 more	GPathogenic
Select item 573947	NM_003000.3(SDHB):c.73-1G>T	SDHB	Single nucleotide variant (splice acceptor variant)	Gastrointestinal stromal tumor +3 more	GLikely pathogenic
Select item 547769	NM_003002.4(SDHD):c.18_21del (p.Leu7fs)	LOC126861339, SDHD (L7fs)	Deletion (frameshift variant +1 more)	Paragangliomas 1 +4 more	GPathogenic/Likely pathogenic
Select item 545881	NM_003000.3(SDHB):c.537dup (p.Leu180fs)	SDHB (L180fs)	Duplication (frameshift variant)	Gastrointestinal stromal tumor +3 more	GPathogenic
Select item 545743	NM_003000.3(SDHB):c.379dup (p.Ile127fs)	SDHB (I127fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 528750	NM_003000.3(SDHB):c.491del (p.Gln164fs)	SDHB (Q164fs)	Deletion (frameshift variant)	Paragangliomas 4 +3 more	GPathogenic
Select item 528741	NM_003000.3(SDHB):c.112del (p.Arg38fs)	SDHB (R38fs)	Deletion (frameshift variant)	Paragangliomas 4 +2 more	GPathogenic
Select item 528737	NM_003000.3(SDHB):c.608del (p.Gly203fs)	SDHB (G203fs)	Deletion (frameshift variant)	Paragangliomas 4 +2 more	GPathogenic
Select item 528736	NM_003000.3(SDHB):c.505C>T (p.Gln169Ter)	SDHB (Q169*)	Single nucleotide variant (nonsense)	Paragangliomas 4 +2 more	GPathogenic
Select item 504902	NM_003000.3(SDHB):c.445_446insTATGG (p.Gln149fs)	SDHB (Q149fs)	Insertion (frameshift variant)	Hereditary pheochromocytoma-paraganglioma +3 more	GPathogenic/Likely pathogenic
Select item 468237	NM_003000.3(SDHB):c.540+1G>A	SDHB	Single nucleotide variant (splice donor variant)	Gastrointestinal stromal tumor +2 more	GLikely pathogenic
Select item 468236	NM_003000.3(SDHB):c.540_540+13del	SDHB	Deletion (splice donor variant)	Paragangliomas 4 +2 more	GLikely pathogenic
Select item 468235	NM_003000.3(SDHB):c.697A>T (p.Lys233Ter)	SDHB (K233*)	Single nucleotide variant (nonsense)	Gastrointestinal stromal tumor +2 more	GPathogenic
Select item 468234	NM_003000.3(SDHB):c.502C>T (p.Gln168Ter)	SDHB (Q168*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic

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