Related gene-specific medical variations for Gene (Select 6390) - ClinVar

Links from Gene

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2945793	NM_003000.3(SDHB):c.766-18C>T	LOC129929541, SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GLikely benign
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 2941917	NM_003000.3(SDHB):c.72+3G>C	LOC129929542, SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2939494	NM_003000.3(SDHB):c.766-14T>C	LOC129929541, SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2936398	NM_003000.3(SDHB):c.72+18A>C	LOC129929542, SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2932956	NM_003000.3(SDHB):c.72+15C>T	LOC129929542, SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2927642	NM_003000.3(SDHB):c.766-18C>G	LOC129929541, SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2927412	NM_003000.3(SDHB):c.72+7C>G	LOC129929542, SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2923066	NM_003000.3(SDHB):c.51C>G (p.Thr17=)	LOC129929542, SDHB	Single nucleotide variant (synonymous variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2678647	NM_003000.3(SDHB):c.287-6T>C	SDHB	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2678646	NM_003000.3(SDHB):c.822G>T (p.Lys274Asn)	SDHB (K256N +1 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2678642	NM_003000.3(SDHB):c.305C>T (p.Ala102Val)	SDHB (A102V)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2678641	NM_003000.3(SDHB):c.695C>G (p.Ala232Gly)	SDHB (A214G +1 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 2663856	NM_003000.3(SDHB):c.424-79_424-2del	SDHB	Deletion (splice acceptor variant)	Paragangliomas 4	GLikely pathogenic
Select item 2625097	NM_003000.3(SDHB):c.68del (p.Leu23fs)	LOC129929542, SDHB (L23fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 2575364	NM_003000.3(SDHB):c.69G>T (p.Leu23=)	LOC129929542, SDHB	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2574076	NM_003000.3(SDHB):c.72+2T>G	LOC129929542, SDHB	Single nucleotide variant (splice donor variant)	Paragangliomas 4	GLikely pathogenic
Select item 2445253	NM_003000.3(SDHB):c.708C>G (p.Asp236Glu)	SDHB (D218E +1 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
Select item 2435785	NM_003000.3(SDHB):c.254C>G (p.Ser85Cys)	SDHB (S85C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2421041	NM_003000.3(SDHB):c.766-11C>G	LOC129929541, SDHB	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor +2 more	GLikely benign
Select item 2183385	NM_003000.3(SDHB):c.766-21_766-19del	LOC129929541, SDHB	Deletion (intron variant)	Gastrointestinal stromal tumor +2 more	GLikely benign
Select item 2178203	NM_003000.3(SDHB):c.72+13G>T	LOC129929542, SDHB	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor +2 more	GLikely benign
Select item 2132967	NM_003000.3(SDHB):c.69G>C (p.Leu23=)	LOC129929542, SDHB	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor +2 more	GLikely benign
Select item 2119284	NM_003000.3(SDHB):c.50C>G (p.Thr17Ser)	LOC129929542, SDHB (T17S)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 2102277	NM_003000.3(SDHB):c.61G>T (p.Ala21Ser)	LOC129929542, SDHB (A21S)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 1959069	NM_003000.3(SDHB):c.68T>C (p.Leu23Pro)	LOC129929542, SDHB (L23P)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 1950479	NM_003000.3(SDHB):c.58G>A (p.Gly20Arg)	SDHB, LOC129929542 (G20R)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 1793102	NM_003000.2:c.256_257insALU	SDHB	Insertion	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1792391	NM_003000.2:c.251_252insALU	SDHB	Insertion	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1753912	NM_003000.3(SDHB):c.65_72+16del	LOC129929542, SDHB	Deletion (splice donor variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 1715676	NM_003000.3(SDHB):c.71A>T (p.Gln24Leu)	LOC129929542, SDHB (Q24L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1632044	NM_003000.3(SDHB):c.72+19G>C	LOC129929542, SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GLikely benign
Select item 1628899	NM_003000.3(SDHB):c.51C>A (p.Thr17=)	LOC129929542, SDHB	Single nucleotide variant (synonymous variant)	Pheochromocytoma +2 more	GLikely benign
Select item 1613813	NM_003000.3(SDHB):c.72+18A>G	LOC129929542, SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GLikely benign
Select item 1591128	NM_003000.3(SDHB):c.72+8C>T	LOC129929542, SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GLikely benign
Select item 1575609	NM_003000.3(SDHB):c.51C>T (p.Thr17=)	LOC129929542, SDHB	Single nucleotide variant (synonymous variant)	Pheochromocytoma +2 more	GLikely benign
Select item 1533055	NM_003000.3(SDHB):c.72+14C>T	LOC129929542, SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GLikely benign
Select item 1529502	NM_003000.3(SDHB):c.72+17C>G	LOC129929542, SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GLikely benign
Select item 1469492	NM_003000.3(SDHB):c.62C>G (p.Ala21Gly)	LOC129929542, SDHB (A21G)	Single nucleotide variant (missense variant)	Paragangliomas 4 +3 more	GUncertain significance
Select item 1426989	NM_003000.3(SDHB):c.62C>T (p.Ala21Val)	LOC129929542, SDHB (A21V)	Single nucleotide variant (missense variant)	Pheochromocytoma +4 more	GUncertain significance
Select item 1150575	NM_003000.3(SDHB):c.72+10G>C	LOC129929542, SDHB	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor +2 more	GLikely benign
Select item 1138562	NM_003000.3(SDHB):c.766-9T>G	LOC129929541, SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GLikely benign
Select item 1125006	NM_003000.3(SDHB):c.72+7C>T	LOC129929542, SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GLikely benign
Select item 1102703	NM_003000.3(SDHB):c.72+10G>A	LOC129929542, SDHB	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor +2 more	GLikely benign
Select item 1093955	NM_003000.3(SDHB):c.54T>G (p.Leu18=)	LOC129929542, SDHB	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor +3 more	GLikely benign
Select item 1062299	NM_003000.3(SDHB):c.58G>C (p.Gly20Arg)	LOC129929542, SDHB (G20R)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +3 more	GUncertain significance
Select item 1060614	NM_003000.3(SDHB):c.52C>T (p.Leu18Phe)	LOC129929542, SDHB (L18F)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 1040802	NM_003000.3(SDHB):c.71A>G (p.Gln24Arg)	LOC129929542, SDHB (Q24R)	Single nucleotide variant (missense variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 1021782	NM_003000.3(SDHB):c.61G>A (p.Ala21Thr)	LOC129929542, SDHB (A21T)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 949301	NM_003000.3(SDHB):c.72+4A>G	LOC129929542, SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 870269	Single allele	SDHB	Insertion	Pheochromocytoma +2 more	GPathogenic
Select item 849934	NM_003000.3(SDHB):c.72G>C (p.Gln24His)	LOC129929542, SDHB (Q24H)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 839853	NM_003000.3(SDHB):c.71_72delinsCC (p.Gln24Pro)	LOC129929542, SDHB (Q24P)	Indel (missense variant)	not provided +4 more	GUncertain significance
Select item 766282	NM_003000.3(SDHB):c.72+8C>G	LOC129929542, SDHB	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor +2 more	GLikely benign
Select item 750167	NM_003000.3(SDHB):c.57C>T (p.Gly19=)	LOC129929542, SDHB	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor +3 more	GLikely benign
Select item 721683	NM_003000.3(SDHB):c.63C>G (p.Ala21=)	LOC129929542, SDHB	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor +2 more	GLikely benign
Select item 703175	NM_003000.3(SDHB):c.54T>C (p.Leu18=)	LOC129929542, SDHB	Single nucleotide variant (synonymous variant)	Pheochromocytoma +3 more	GLikely benign
Select item 676873	NM_003000.3(SDHB):c.766-40C>T	LOC129929541, SDHB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 664893	NM_003000.3(SDHB):c.70C>T (p.Gln24Ter)	LOC129929542, SDHB (Q24*)	Single nucleotide variant (nonsense)	Gastrointestinal stromal tumor +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 591278	NM_003000.3(SDHB):c.135_136insACAAGTTGAAACT (p.Arg46delinsThrSerTer)	SDHB	Insertion (nonsense)	not provided	GUncertain significance
Select item 528758	NM_003000.3(SDHB):c.766-6T>C	LOC129929541, SDHB	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor +2 more	GLikely benign
Select item 528742	NM_003000.3(SDHB):c.65G>A (p.Cys22Tyr)	LOC129929542, SDHB (C22Y)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +3 more	GUncertain significance
Select item 528740	NM_003000.3(SDHB):c.72G>A (p.Gln24=)	LOC129929542, SDHB	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 509480	NM_003000.3(SDHB):c.766-19del	LOC129929541, SDHB	Deletion (intron variant)	Paragangliomas 4 +3 more	GLikely benign
Select item 486426	NM_003000.3(SDHB):c.66C>T (p.Cys22=)	LOC129929542, SDHB	Single nucleotide variant (synonymous variant)	Paragangliomas 4 +3 more	GLikely benign
Select item 459167	NM_003000.3(SDHB):c.72+7C>A	LOC129929542, SDHB	Single nucleotide variant (intron variant)	Paragangliomas 4 +2 more	GLikely benign
Select item 459166	NM_003000.3(SDHB):c.72+3G>A	LOC129929542, SDHB	Single nucleotide variant (intron variant)	Paragangliomas 4 +2 more	GUncertain significance
Select item 459163	NM_003000.3(SDHB):c.65G>T (p.Cys22Phe)	LOC129929542, SDHB (C22F)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +6 more	GUncertain significance
Select item 459151	NM_003000.3(SDHB):c.50C>T (p.Thr17Ile)	LOC129929542, SDHB (T17I)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +4 more	GUncertain significance
Select item 452783	NM_003000.3(SDHB):c.67C>G (p.Leu23Val)	LOC129929542, SDHB (L23V)	Single nucleotide variant (missense variant)	Pheochromocytoma +4 more	GUncertain significance
Select item 438432	NM_003000.2(SDHB):c.287_540del	SDHB	Deletion	Hereditary pheochromocytoma-paraganglioma	GPathogenic
Select item 438431	NM_003000.2:c.73_846del	SDHB	Deletion	Hereditary pheochromocytoma-paraganglioma	GPathogenic
Select item 438430	NM_003000.3(SDHB):c.1_843del	SDHB	Deletion	Hereditary pheochromocytoma-paraganglioma	GPathogenic
Select item 438429	NM_003000.3(SDHB):c.761dup (p.Pro254_Lys255insTer)	SDHB	Duplication (frameshift variant)	Hereditary pheochromocytoma-paraganglioma	GPathogenic
Select item 438422	NM_003000.2(SDHB):c.445_447delinsGGTATCT (p.Gln149fs)	SDHB	Indel	Hereditary pheochromocytoma-paraganglioma	GPathogenic
Select item 438421	NM_003000.2(SDHB):c.523_527delinsAAGG (p.Glu175fs)	SDHB	Indel	Hereditary pheochromocytoma-paraganglioma	GPathogenic
Select item 438420	NM_003000.3(SDHB):c.348_352del (p.Ile117fs)	SDHB (I117fs)	Deletion (frameshift variant)	Hereditary pheochromocytoma-paraganglioma	GLikely pathogenic
Select item 438415	NM_003000.3(SDHB):c.369_370insA (p.Val124fs)	SDHB (V124fs)	Insertion (frameshift variant)	Hereditary pheochromocytoma-paraganglioma	GPathogenic
Select item 438414	NM_003000.3(SDHB):c.274T>C (p.Ser92Pro)	SDHB (S92P)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GPathogenic
Select item 438413	NM_003000.3(SDHB):c.275C>A (p.Ser92Ter)	SDHB (S92*)	Single nucleotide variant (nonsense)	Hereditary pheochromocytoma-paraganglioma	GPathogenic
Select item 428928	NM_003000.3(SDHB):c.71dup (p.Ala25fs)	LOC129929542, SDHB (A25fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 428927	NM_003000.3(SDHB):c.72+1G>A	LOC129929542, SDHB	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 412461	NM_003000.3(SDHB):c.49A>G (p.Thr17Ala)	LOC129929542, SDHB (T17A)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +5 more	GUncertain significance
Select item 385761	NM_003000.3(SDHB):c.766-20T>C	LOC129929541, SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +3 more	GLikely benign
Select item 254063	NM_003000.2(SDHB):c.201-?_765+?dup	SDHB	Duplication	Pheochromocytoma +2 more	GLikely pathogenic
Select item 239444	NM_003000.2(SDHB):c.73-?_*159+?dup	SDHB	Duplication	Pheochromocytoma +2 more	GUncertain significance
Select item 239440	NM_003000.3(SDHB):c.72+5G>A	LOC129929542, SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 239439	NM_003000.3(SDHB):c.71A>C (p.Gln24Pro)	LOC129929542, SDHB (Q24P)	Single nucleotide variant (missense variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 220915	NM_003000.3(SDHB):c.65G>C (p.Cys22Ser)	LOC129929542, SDHB (C22S)	Single nucleotide variant (missense variant)	Paragangliomas 4 +6 more	GConflicting classifications of pathogenicity
Select item 142827	NM_003000.3(SDHB):c.50C>A (p.Thr17Asn)	LOC129929542, SDHB (T17N)	Single nucleotide variant (missense variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 142764	NM_003000.3(SDHB):c.72+1G>T	LOC129929542, SDHB	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic/Likely pathogenic
Select item 12784	NM_003000.3(SDHB):c.(-151_-1)_(72+1_73-1)del	SDHB	Deletion	Paragangliomas 4	GPathogenic

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Links from Gene

Items: 94