ClinVar for MedGen (Select 340200) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3763993	NM_003001.5(SDHC):c.408G>A (p.Met136Ile)	SDHC (M100I +10 more)	Single nucleotide variant (missense variant +1 more)	Paragangliomas 3 +1 more	GUncertain significance
Select item 3763840	NM_003001.5(SDHC):c.179+16G>A	SDHC	Single nucleotide variant (intron variant)	Paragangliomas 3 +1 more	GLikely benign
Select item 3763682	NM_003001.5(SDHC):c.388A>C (p.Asn130His)	SDHC (N109H +7 more)	Single nucleotide variant (missense variant +2 more)	Paragangliomas 3 +1 more	GUncertain significance
Select item 3763610	NM_003001.5(SDHC):c.241+13G>A	SDHC	Single nucleotide variant (intron variant)	Paragangliomas 3 +1 more	GLikely benign
Select item 3761399	NM_003001.5(SDHC):c.241+4_241+5delinsAT	SDHC	Indel (intron variant)	Paragangliomas 3 +1 more	GUncertain significance
Select item 3761346	NM_003001.5(SDHC):c.143C>G (p.Ser48Ter)	SDHC (S11* +2 more)	Single nucleotide variant (nonsense +2 more)	Paragangliomas 3 +1 more	GPathogenic
Select item 3761342	NM_003001.5(SDHC):c.436C>T (p.Pro146Ser)	SDHC (P109S +10 more)	Single nucleotide variant (missense variant +1 more)	Paragangliomas 3 +1 more	GUncertain significance
Select item 3760798	NM_003001.5(SDHC):c.20+2T>A	SDHC	Single nucleotide variant (5 prime UTR variant +1 more)	Paragangliomas 3 +1 more	GLikely pathogenic
Select item 3760678	NM_003001.5(SDHC):c.241+9A>G	SDHC	Single nucleotide variant (intron variant)	Paragangliomas 3 +1 more	GLikely benign
Select item 3759941	NM_003001.5(SDHC):c.316dup (p.Leu106fs)	SDHC (L106fs +7 more)	Duplication (frameshift variant +2 more)	Paragangliomas 3 +1 more	GPathogenic
Select item 3759868	NM_003001.5(SDHC):c.77+10T>A	SDHC	Single nucleotide variant (intron variant)	Paragangliomas 3 +1 more	GLikely benign
Select item 3759710	NM_003001.5(SDHC):c.327G>A (p.Gly109=)	SDHC	Single nucleotide variant (synonymous variant +2 more)	Paragangliomas 3 +1 more	GLikely benign
Select item 3759589	NM_003001.5(SDHC):c.123C>T (p.Phe41=)	SDHC	Single nucleotide variant (synonymous variant +2 more)	Paragangliomas 3 +1 more	GLikely benign
Select item 3757979	NM_003001.5(SDHC):c.155T>C (p.Leu52Pro)	SDHC (L15P +2 more)	Single nucleotide variant (missense variant +2 more)	Paragangliomas 3 +1 more	GUncertain significance
Select item 3757977	NM_003001.5(SDHC):c.148C>A (p.Arg50Ser)	SDHC (R13S +2 more)	Single nucleotide variant (missense variant +2 more)	Paragangliomas 3 +1 more	GLikely pathogenic
Select item 3757783	NM_003001.5(SDHC):c.241+19AC[3]	SDHC	Microsatellite (intron variant)	Paragangliomas 3 +1 more	GLikely benign
Select item 3757654	NM_003001.5(SDHC):c.180-13_180-12insA	SDHC	Insertion (intron variant)	Paragangliomas 3 +1 more	GUncertain significance
Select item 3757280	NM_003001.5(SDHC):c.405+11T>A	SDHC	Single nucleotide variant (intron variant)	Paragangliomas 3 +1 more	GLikely benign
Select item 3757251	NM_003001.5(SDHC):c.160C>G (p.Pro54Ala)	SDHC (P17A +2 more)	Single nucleotide variant (missense variant +2 more)	Paragangliomas 3 +1 more	GUncertain significance
Select item 3757089	NM_003001.5(SDHC):c.99G>C (p.Thr33=)	SDHC	Single nucleotide variant (synonymous variant +3 more)	Paragangliomas 3 +1 more	GLikely benign
Select item 3756935	NM_003001.5(SDHC):c.169A>T (p.Thr57Ser)	SDHC (T20S +2 more)	Single nucleotide variant (missense variant +2 more)	Paragangliomas 3 +1 more	GUncertain significance
Select item 3756357	NM_003001.5(SDHC):c.34C>T (p.His12Tyr)	SDHC (H12Y)	Single nucleotide variant (missense variant +3 more)	Paragangliomas 3 +1 more	GUncertain significance
Select item 3756354	NM_003001.5(SDHC):c.331_333del (p.Ala111del)	SDHC (A111del +7 more)	Deletion (inframe_deletion +2 more)	Paragangliomas 3 +1 more	GUncertain significance
Select item 3755338	NM_003001.5(SDHC):c.242-8C>A	SDHC	Single nucleotide variant (intron variant)	Paragangliomas 3 +1 more	GLikely benign
Select item 3755289	NM_003001.5(SDHC):c.9G>C (p.Ala3=)	SDHC	Single nucleotide variant (synonymous variant +2 more)	Paragangliomas 3 +1 more	GLikely benign
Select item 3755258	NM_003001.5(SDHC):c.320G>A (p.Cys107Tyr)	SDHC (C107Y +7 more)	Single nucleotide variant (missense variant +2 more)	Paragangliomas 3 +1 more	GUncertain significance
Select item 3755150	NM_003001.5(SDHC):c.180-17del	SDHC	Deletion (intron variant)	Paragangliomas 3 +1 more	GLikely benign
Select item 3754788	NM_003001.5(SDHC):c.249T>C (p.Ser83=)	SDHC	Single nucleotide variant (synonymous variant +2 more)	Paragangliomas 3 +1 more	GLikely benign
Select item 3754755	NM_003001.5(SDHC):c.470T>A (p.Val157Asp)	SDHC (V104D +7 more)	Single nucleotide variant (synonymous variant +2 more)	Paragangliomas 3 +1 more	GUncertain significance
Select item 3754629	NM_003001.5(SDHC):c.184T>G (p.Ser62Ala)	SDHC (S102A +5 more)	Single nucleotide variant (missense variant +1 more)	Paragangliomas 3 +1 more	GUncertain significance
Select item 3754318	NM_003001.5(SDHC):c.184T>C (p.Ser62Pro)	SDHC (S102P +5 more)	Single nucleotide variant (missense variant +1 more)	Paragangliomas 3 +1 more	GUncertain significance
Select item 3751927	NM_003001.5(SDHC):c.129T>A (p.Asn43Lys)	SDHC (N24K +2 more)	Single nucleotide variant (missense variant +2 more)	Paragangliomas 3 +1 more	GUncertain significance
Select item 3751433	NM_003001.5(SDHC):c.180-6T>C	SDHC	Single nucleotide variant (intron variant)	Paragangliomas 3 +1 more	GLikely benign
Select item 3751432	NM_003001.5(SDHC):c.105AGA[1] (p.Glu37del)	SDHC (E18del +1 more)	Microsatellite (inframe_deletion +3 more)	Paragangliomas 3 +1 more	GUncertain significance
Select item 3750414	NM_003001.5(SDHC):c.241+15T>G	SDHC	Single nucleotide variant (intron variant)	Paragangliomas 3 +1 more	GLikely benign
Select item 3749117	NM_003001.5(SDHC):c.252_255inv (p.Phe85Lys)	SDHC (F125K +7 more)	Inversion (missense variant +2 more)	Paragangliomas 3 +1 more	GUncertain significance
Select item 3749058	NM_003001.5(SDHC):c.352T>C (p.Phe118Leu)	SDHC (F118L +7 more)	Single nucleotide variant (missense variant +2 more)	Paragangliomas 3 +1 more	GUncertain significance
Select item 3748854	NM_003001.5(SDHC):c.242-1G>A	SDHC	Single nucleotide variant (splice acceptor variant +1 more)	Paragangliomas 3 +1 more	GLikely pathogenic
Select item 3748690	NM_003001.5(SDHC):c.405+14G>A	SDHC	Single nucleotide variant (intron variant)	Paragangliomas 3 +1 more	GLikely benign
Select item 3748651	NM_003001.5(SDHC):c.109G>A (p.Glu37Lys)	SDHC (E18K +1 more)	Single nucleotide variant (missense variant +3 more)	Paragangliomas 3 +1 more	GUncertain significance
Select item 3748189	NM_003001.5(SDHC):c.405+3A>G	SDHC	Single nucleotide variant (intron variant)	Paragangliomas 3 +1 more	GUncertain significance
Select item 3748067	NM_003001.5(SDHC):c.19A>G (p.Arg7Gly)	SDHC (R7G +1 more)	Single nucleotide variant (missense variant +2 more)	Paragangliomas 3 +1 more	GUncertain significance
Select item 3438784	NM_003001.5(SDHC):c.124T>C (p.Trp42Arg)	SDHC (W23R +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 3379244	NM_003001.5(SDHC):c.226dup (p.Ile76fs)	SDHC (I116fs +5 more)	Duplication (frameshift variant +1 more)	Paragangliomas 3	GPathogenic
Select item 3254373	NM_003001.5(SDHC):c.118dup (p.Arg40fs)	SDHC (R21fs +2 more)	Duplication (frameshift variant +2 more)	Paragangliomas 3	GPathogenic
Select item 3247759	NC_000001.10:g.(?_161326447)_(161332223_?)dup	SDHC	Duplication	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 3247758	NC_000001.10:g.(?_161310364)_(161332223_?)dup	SDHC	Duplication	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 3247757	NC_000001.10:g.(?_161293384)_(161293480_?)dup	SDHC	Duplication	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 3247756	NC_000001.10:g.(?_161284196)_(161284215_?)del	SDHC	Deletion	Gastrointestinal stromal tumor +1 more	GPathogenic
Select item 3223036	NM_003001.5(SDHC):c.63G>C (p.Gln21His)	SDHC (Q21H)	Single nucleotide variant (missense variant +3 more)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 3223031	NM_003001.5(SDHC):c.405G>C (p.Leu135Phe)	SDHC (L101F +7 more)	Single nucleotide variant (missense variant +2 more)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 3223027	NM_003001.5(SDHC):c.183G>A (p.Trp61Ter)	SDHC (W101* +5 more)	Single nucleotide variant (nonsense +1 more)	Gastrointestinal stromal tumor +2 more	GPathogenic
Select item 3148693	NM_003001.5(SDHC):c.204dup (p.Ile69fs)	SDHC (I109fs +5 more)	Duplication (non-coding transcript variant +1 more)	Paragangliomas 3	GPathogenic
Select item 3148630	NM_003001.5(SDHC):c.242-2_242-1insT	SDHC	Insertion (splice acceptor variant +1 more)	Paragangliomas 3	GLikely pathogenic
Select item 3073349	NM_003001.5(SDHC):c.429G>A (p.Leu143=)	SDHC (E55K +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary pheochromocytoma-paraganglioma +2 more	GLikely benign
Select item 3065204	NM_003001.5(SDHC):c.371_372del (p.Leu124fs)	SDHC (L103fs +7 more)	Microsatellite (frameshift variant +2 more)	Paragangliomas 3	GLikely benign
Select item 2954266	NM_003001.5(SDHC):c.37T>C (p.Cys13Arg)	SDHC (C13R)	Single nucleotide variant (missense variant +3 more)	Paragangliomas 3 +1 more	GUncertain significance
Select item 2954043	NM_003001.5(SDHC):c.143_144insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATATAGGTTC (p.Ser48_Asn49insGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgXaaXaaXaaXaaLysLysLysLysLysLysLysAsnIleGlySer)	SDHC	Insertion (inframe_insertion +2 more)	Paragangliomas 3 +1 more	GPathogenic
Select item 2953422	NM_003001.5(SDHC):c.179+2T>A	SDHC	Single nucleotide variant (splice donor variant +1 more)	Paragangliomas 3 +1 more	GLikely pathogenic
Select item 2953332	NM_003001.5(SDHC):c.399A>G (p.Arg133=)	SDHC	Single nucleotide variant (synonymous variant +2 more)	Paragangliomas 3 +1 more	GLikely benign
Select item 2953217	NM_003001.5(SDHC):c.268C>T (p.Leu90=)	SDHC	Single nucleotide variant (synonymous variant +2 more)	Paragangliomas 3 +1 more	GLikely benign
Select item 2953031	NM_003001.5(SDHC):c.441G>A (p.Gln147=)	SDHC (A59T +2 more)	Single nucleotide variant (missense variant +2 more)	Paragangliomas 3 +1 more	GLikely benign
Select item 2952842	NM_003001.5(SDHC):c.396C>A (p.Ile132=)	SDHC	Single nucleotide variant (synonymous variant +2 more)	Paragangliomas 3 +1 more	GLikely benign
Select item 2952693	NM_003001.5(SDHC):c.179+10del	SDHC	Deletion (intron variant)	Paragangliomas 3 +1 more	GLikely benign
Select item 2952356	NM_003001.5(SDHC):c.180-17T>C	SDHC	Single nucleotide variant (intron variant)	Paragangliomas 3 +1 more	GLikely benign
Select item 2951937	NM_003001.5(SDHC):c.484T>C (p.Ser162Pro)	SDHC (S126P +10 more)	Single nucleotide variant (missense variant +1 more)	Paragangliomas 3 +1 more	GUncertain significance
Select item 2951850	NM_003001.5(SDHC):c.405+6T>G	SDHC	Single nucleotide variant (intron variant)	Paragangliomas 3 +1 more	GUncertain significance
Select item 2951426	NM_003001.5(SDHC):c.332C>T (p.Ala111Val)	SDHC (A58V +7 more)	Single nucleotide variant (missense variant +2 more)	Paragangliomas 3 +1 more	GUncertain significance
Select item 2951254	NM_003001.5(SDHC):c.21-5T>G	SDHC	Single nucleotide variant (intron variant)	Paragangliomas 3 +1 more	GUncertain significance
Select item 2951094	NM_003001.5(SDHC):c.78T>C (p.Asn26=)	SDHC	Single nucleotide variant (synonymous variant +3 more)	Paragangliomas 3 +1 more	GUncertain significance
Select item 2950992	NM_003001.5(SDHC):c.393G>A (p.Gly131=)	SDHC	Single nucleotide variant (synonymous variant +2 more)	Paragangliomas 3 +1 more	GLikely benign
Select item 2950878	NM_003001.5(SDHC):c.61C>T (p.Gln21Ter)	SDHC (Q21*)	Single nucleotide variant (nonsense +3 more)	Paragangliomas 3 +1 more	GPathogenic
Select item 2950649	NM_003001.5(SDHC):c.393G>T (p.Gly131=)	SDHC	Single nucleotide variant (synonymous variant +2 more)	Paragangliomas 3 +1 more	GLikely benign
Select item 2950017	NM_003001.5(SDHC):c.37T>A (p.Cys13Ser)	SDHC (C13S)	Single nucleotide variant (missense variant +3 more)	Paragangliomas 3 +1 more	GUncertain significance
Select item 2949153	NM_003001.5(SDHC):c.20+1G>A	SDHC	Single nucleotide variant (5 prime UTR variant +1 more)	Paragangliomas 3 +1 more	GLikely pathogenic
Select item 2948959	NM_003001.5(SDHC):c.20+13G>A	SDHC	Single nucleotide variant (5 prime UTR variant +1 more)	Paragangliomas 3 +1 more	GLikely benign
Select item 2948784	NM_003001.5(SDHC):c.242-20C>G	SDHC	Single nucleotide variant (intron variant)	Paragangliomas 3 +1 more	GLikely benign
Select item 2948682	NM_003001.5(SDHC):c.501_503dup (p.Ala168_Met169insAla)	SDHC	Duplication (inframe_insertion +1 more)	Paragangliomas 3 +1 more	GUncertain significance
Select item 2948110	NM_003001.5(SDHC):c.106G>A (p.Glu36Lys)	SDHC (E17K +1 more)	Single nucleotide variant (missense variant +3 more)	Paragangliomas 3 +1 more	GUncertain significance
Select item 2947478	NM_003001.5(SDHC):c.258C>T (p.Gly86=)	SDHC	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 2946953	NM_003001.5(SDHC):c.7G>C (p.Ala3Pro)	SDHC (A3P)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 2946768	NM_003001.5(SDHC):c.296A>T (p.Tyr99Phe)	SDHC (Y65F +7 more)	Single nucleotide variant (missense variant +2 more)	Paragangliomas 3 +1 more	GUncertain significance
Select item 2946701	NM_003001.5(SDHC):c.6T>A (p.Ala2=)	SDHC	Single nucleotide variant (synonymous variant +2 more)	Hereditary pheochromocytoma-paraganglioma +3 more	GLikely benign
Select item 2946341	NM_003001.5(SDHC):c.241+19A>G	SDHC	Single nucleotide variant (intron variant)	Paragangliomas 3 +1 more	GLikely benign
Select item 2946012	NM_003001.5(SDHC):c.252T>C (p.Leu84=)	SDHC	Single nucleotide variant (synonymous variant +2 more)	Paragangliomas 3 +1 more	GLikely benign
Select item 2945929	NM_003001.5(SDHC):c.20+14G>A	SDHC	Single nucleotide variant (5 prime UTR variant +1 more)	Paragangliomas 3 +1 more	GLikely benign
Select item 2945115	NM_003001.5(SDHC):c.154C>G (p.Leu52Val)	SDHC (L15V +2 more)	Single nucleotide variant (missense variant +2 more)	Paragangliomas 3 +1 more	GUncertain significance
Select item 2944331	NM_003001.5(SDHC):c.105A>C (p.Lys35Asn)	SDHC (K16N +1 more)	Single nucleotide variant (missense variant +3 more)	Paragangliomas 3 +1 more	GUncertain significance
Select item 2943401	NM_003001.5(SDHC):c.341A>C (p.His114Pro)	SDHC (H77P +7 more)	Single nucleotide variant (missense variant +2 more)	Paragangliomas 3 +1 more	GUncertain significance
Select item 2943305	NM_003001.5(SDHC):c.497dup (p.Ala167fs)	SDHC (A131fs +10 more)	Duplication (frameshift variant +1 more)	Paragangliomas 3 +1 more	GUncertain significance
Select item 2943261	NM_003001.5(SDHC):c.20+15A>C	SDHC	Single nucleotide variant (5 prime UTR variant +1 more)	Paragangliomas 3 +1 more	GLikely benign
Select item 2943040	NM_003001.5(SDHC):c.2T>C (p.Met1Thr)	SDHC (M1T)	Single nucleotide variant (missense variant +3 more)	Paragangliomas 3 +1 more	GPathogenic
Select item 2943036	NM_003001.5(SDHC):c.115G>C (p.Glu39Gln)	SDHC (E20Q +2 more)	Single nucleotide variant (missense variant +2 more)	Paragangliomas 3 +1 more	GUncertain significance
Select item 2942866	NM_003001.5(SDHC):c.80C>T (p.Ala27Val)	SDHC (A27V +1 more)	Single nucleotide variant (missense variant +3 more)	Paragangliomas 3 +1 more	GUncertain significance
Select item 2942723	NM_003001.5(SDHC):c.442C>T (p.Leu148=)	SDHC (A74V +2 more)	Single nucleotide variant (missense variant +2 more)	Paragangliomas 3 +1 more	GLikely benign
Select item 2942722	NM_003001.5(SDHC):c.441G>T (p.Gln147His)	SDHC (Q128H +10 more)	Single nucleotide variant (missense variant +1 more)	Paragangliomas 3 +1 more	GUncertain significance
Select item 2942143	NM_003001.5(SDHC):c.21-4G>A	SDHC	Single nucleotide variant (intron variant)	Paragangliomas 3 +1 more	GLikely benign
Select item 2942066	NM_003001.5(SDHC):c.452C>T (p.Ser151Phe)	SDHC (S114F +7 more)	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GUncertain significance
Select item 2941678	NM_003001.5(SDHC):c.241+7A>C	SDHC	Single nucleotide variant (intron variant)	Paragangliomas 3 +1 more	GLikely benign
Select item 2940786	NM_003001.5(SDHC):c.267C>T (p.Ala89=)	SDHC	Single nucleotide variant (synonymous variant +2 more)	Paragangliomas 3 +1 more	GLikely benign

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