ClinVar for PubMed (Select 24758179) - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2954043	NM_003001.5(SDHC):c.143_144insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATATAGGTTC (p.Ser48_Asn49insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgXaaXaaXaaXaaLysLysLysLysLysLysLysAsnIleGlySer)	SDHC	Insertion (inframe_insertion +2 more)	Gastrointestinal stromal tumor +1 more	GPathogenic
Select item 2953422	NM_003001.5(SDHC):c.179+2T>A	SDHC	Single nucleotide variant (splice donor variant +1 more)	Gastrointestinal stromal tumor +1 more	GLikely pathogenic
Select item 2950878	NM_003001.5(SDHC):c.61C>T (p.Gln21Ter)	SDHC (Q21*)	Single nucleotide variant (nonsense +3 more)	Gastrointestinal stromal tumor +1 more	GPathogenic
Select item 2949153	NM_003001.5(SDHC):c.20+1G>A	SDHC	Single nucleotide variant (5 prime UTR variant +1 more)	Gastrointestinal stromal tumor +1 more	GLikely pathogenic
Select item 2573308	NM_003001.5(SDHC):c.177C>A (p.Tyr59Ter)	SDHC (Y22* +2 more)	Single nucleotide variant (nonsense +2 more)	Paragangliomas 3 +1 more	GPathogenic
Select item 2424601	NC_000001.10:g.(?_161284158)_(161284225_?)del	SDHC	Deletion	Paragangliomas 3 +1 more	GPathogenic
Select item 2424600	NC_000001.10:g.(?_161326457)_(161326640_?)dup	SDHC	Duplication	Paragangliomas 3 +1 more	GLikely pathogenic
Select item 2036721	NM_003001.5(SDHC):c.288dup (p.Glu97Ter)	SDHC (E63* +7 more)	Duplication (nonsense +2 more)	Gastrointestinal stromal tumor +1 more	GPathogenic
Select item 2036254	NM_003001.5(SDHC):c.220dup (p.Thr74fs)	SDHC (T21fs +2 more)	Duplication (frameshift variant)	Gastrointestinal stromal tumor +1 more	GPathogenic
Select item 1786711	NM_003001.5(SDHC):c.214C>G (p.Arg72Gly)	SDHC (R53G +5 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1722989	NM_003001.5(SDHC):c.78-2A>G	SDHC	Single nucleotide variant (splice acceptor variant +1 more)	Gastrointestinal stromal tumor +2 more	GLikely pathogenic
Select item 1677290	NM_003001.5(SDHC):c.379C>G (p.His127Asp)	SDHC (H127D +7 more)	Single nucleotide variant (missense variant +2 more)	Hereditary pheochromocytoma-paraganglioma +3 more	GConflicting classifications of pathogenicity
Select item 1472122	NM_003001.5(SDHC):c.179+1G>T	SDHC	Single nucleotide variant (splice donor variant +1 more)	Paragangliomas 3 +1 more	GLikely pathogenic
Select item 1456907	NM_003001.5(SDHC):c.214del (p.Arg72fs)	SDHC (R19fs +2 more)	Deletion (frameshift variant)	Paragangliomas 3 +1 more	GPathogenic
Select item 1072825	NC_000001.10:g.(?_161310374)_(161310455_?)del	SDHC	Deletion	Gastrointestinal stromal tumor +1 more	GPathogenic
Select item 1072500	NM_003001.5(SDHC):c.124del (p.Trp42fs)	SDHC (W42fs +2 more)	Deletion (frameshift variant +2 more)	Gastrointestinal stromal tumor +1 more	GPathogenic
Select item 1072200	NM_003001.5(SDHC):c.278dup (p.Gly94fs)	SDHC (G41fs +7 more)	Duplication (frameshift variant +2 more)	Gastrointestinal stromal tumor +1 more	GPathogenic
Select item 1069194	NM_003001.5(SDHC):c.250_251del (p.Leu84fs)	SDHC (L31fs +7 more)	Microsatellite (frameshift variant +2 more)	Gastrointestinal stromal tumor +2 more	GPathogenic
Select item 1067029	NM_003001.5(SDHC):c.20+1G>T	SDHC	Single nucleotide variant (5 prime UTR variant +1 more)	Gastrointestinal stromal tumor +1 more	GLikely pathogenic
Select item 978229	NM_003001.5(SDHC):c.386G>A (p.Trp129Ter)	SDHC (W129* +7 more)	Single nucleotide variant (nonsense +2 more)	Gastrointestinal stromal tumor +1 more	GPathogenic
Select item 959675	NM_003001.5(SDHC):c.175del (p.Tyr59fs)	SDHC (Y59fs +2 more)	Deletion (frameshift variant +2 more)	Paragangliomas 3 +1 more	GPathogenic
Select item 946938	NM_003001.5(SDHC):c.379C>A (p.His127Asn)	SDHC (H74N +7 more)	Single nucleotide variant (missense variant +2 more)	Gastrointestinal stromal tumor +2 more	GConflicting classifications of pathogenicity
Select item 858738	NM_003001.5(SDHC):c.86del (p.Pro29fs)	SDHC (P29fs +1 more)	Deletion (frameshift variant +3 more)	Paragangliomas 3 +1 more	GPathogenic
Select item 853482	NM_003001.5(SDHC):c.247dup (p.Ser83fs)	SDHC (S30fs +7 more)	Duplication (frameshift variant +2 more)	Gastrointestinal stromal tumor +1 more	GPathogenic
Select item 851539	NM_003001.5(SDHC):c.183del (p.Trp61fs)	SDHC (W61fs +2 more)	Deletion (frameshift variant)	Gastrointestinal stromal tumor +1 more	GPathogenic
Select item 835716	NM_003001.5(SDHC):c.379C>T (p.His127Tyr)	SDHC (H127Y +7 more)	Single nucleotide variant (missense variant +2 more)	Gastrointestinal stromal tumor +2 more	GPathogenic
Select item 831911	NC_000001.11:g.(?_161314368)_(161362518_?)del	SDHC	Deletion	Gastrointestinal stromal tumor +1 more	GPathogenic
Select item 831126	NC_000001.11:g.(?_161323604)_(161328507_?)del	SDHC	Deletion	Gastrointestinal stromal tumor +1 more	GPathogenic
Select item 830390	NC_000001.11:g.(?_161340584)_(161340665_?)dup	SDHC	Duplication	Gastrointestinal stromal tumor +1 more	GLikely pathogenic
Select item 827209	NM_003001.5(SDHC):c.77+1G>A	SDHC	Single nucleotide variant (splice donor variant +1 more)	Gastrointestinal stromal tumor +2 more	GLikely pathogenic
Select item 821121	NM_003001.5(SDHC):c.233dup (p.Leu78fs)	SDHC (L78fs +2 more)	Duplication (frameshift variant)	Gastrointestinal stromal tumor +2 more	GPathogenic
Select item 653952	NM_003001.5(SDHC):c.214C>T (p.Arg72Cys)	SDHC (R19C +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 546054	NM_003001.5(SDHC):c.17_18dup (p.Arg7Ter)	SDHC (R7* +1 more)	Duplication (frameshift variant +1 more)	Gastrointestinal stromal tumor +2 more	GPathogenic
Select item 534370	NM_003001.5(SDHC):c.78-1G>T	SDHC	Single nucleotide variant (splice acceptor variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely pathogenic
Select item 534368	NM_003001.5(SDHC):c.215del (p.Arg72fs)	SDHC (R38fs +2 more)	Deletion (frameshift variant)	Gastrointestinal stromal tumor +1 more	GPathogenic
Select item 480810	NM_003001.5(SDHC):c.376_391del (p.Tyr126fs)	SDHC (Y126fs +7 more)	Deletion (frameshift variant +2 more)	Paragangliomas 3 +2 more	GPathogenic
Select item 428935	NM_003001.5(SDHC):c.387G>A (p.Trp129Ter)	SDHC (W129* +7 more)	Single nucleotide variant (nonsense +2 more)	Gastrointestinal stromal tumor +3 more	GPathogenic/Likely pathogenic
Select item 428934	NM_003001.5(SDHC):c.405+1G>C	SDHC	Single nucleotide variant (splice donor variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 372501	NM_003001.5(SDHC):c.179+1G>C	SDHC	Single nucleotide variant (splice donor variant +1 more)	Gastrointestinal stromal tumor +4 more	GLikely pathogenic
Select item 187084	NM_003001.5(SDHC):c.380A>G (p.His127Arg)	SDHC (H127R +7 more)	Single nucleotide variant (missense variant +2 more)	Gastrointestinal stromal tumor +4 more	GPathogenic/Likely pathogenic
Select item 183753	NM_003001.5(SDHC):c.397C>T (p.Arg133Ter)	SDHC (R133* +7 more)	Single nucleotide variant (nonsense +2 more)	Hereditary pheochromocytoma-paraganglioma +5 more	GPathogenic
Select item 41776	NM_003001.5(SDHC):c.43C>T (p.Arg15Ter)	SDHC (R15*)	Single nucleotide variant (nonsense +3 more)	Paragangliomas 3 +4 more	GPathogenic

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Links from PubMed

Items: 42