ClinVar for MedGen (Select 488134) - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2673996	NM_003002.4(SDHD):c.395C>G (p.Ser132Ter)	SDHD (Q84E +2 more)	Single nucleotide variant (missense variant +3 more)	Paragangliomas 1	GPathogenic
Select item 2574077	NM_003002.4(SDHD):c.117del (p.Ile40fs)	SDHD (I40fs)	Deletion (non-coding transcript variant +2 more)	Paragangliomas 1	GLikely pathogenic
Select item 1444211	NM_003002.4(SDHD):c.431A>G (p.Tyr144Cys)	SDHD (Y105C +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Cowden syndrome 3 +6 more	GUncertain significance
Select item 1333312	NM_003002.4(SDHD):c.128G>A (p.Trp43Ter)	SDHD (W43*)	Single nucleotide variant (nonsense +2 more)	Paragangliomas 1	GLikely pathogenic
Select item 1333204	NM_003002.4(SDHD):c.424_427del (p.Phe142fs)	SDHD (F103fs +1 more)	Deletion (3 prime UTR variant +2 more)	Paragangliomas 1	GLikely pathogenic
Select item 1329952	NM_003002.4(SDHD):c.217dup (p.Ser73fs)	SDHD (S34fs +1 more)	Duplication (frameshift variant +2 more)	Paragangliomas 1	GLikely pathogenic
Select item 1319258	NM_003002.4(SDHD):c.49C>T (p.Arg17Ter)	LOC126861339, SDHD (R17*)	Single nucleotide variant (nonsense +1 more)	Paragangliomas 1 +6 more	GPathogenic
Select item 1076624	NC_000011.9:g.(?_111957547)_(111958707_?)del	SDHD	Deletion	Pheochromocytoma +3 more	GPathogenic
Select item 1003647	NC_000011.9:g.(?_111171709)_(111965694_?)dup	ALG9, BTG4 +20 more	Duplication	Paragangliomas 1 +3 more	GUncertain significance
Select item 833131	NC_000011.10:g.(?_112087802)_(112094970_?)dup	SDHD	Duplication	Cowden syndrome 3 +4 more	GUncertain significance
Select item 833130	NC_000011.10:g.(?_112086823)_(112086969_?)dup	SDHD	Duplication	Cowden syndrome 3 +4 more	GUncertain significance
Select item 832816	NC_000011.10:g.(?_112094795)_(112094970_?)del	SDHD	Deletion	Cowden syndrome 3 +4 more	GPathogenic
Select item 832458	NC_000011.10:g.(?_112086902)_(112094975_?)del	SDHD	Deletion	Cowden syndrome 3 +3 more	GPathogenic
Select item 832067	NC_000011.10:g.(?_112086823)_(112094970_?)dup	SDHD	Duplication	Cowden syndrome 3 +4 more	GUncertain significance
Select item 831566	NC_000011.9:g.(?_111171709)_(111965694_?)del	BTG4, C11orf52 +20 more	Deletion	Carney-Stratakis syndrome +3 more	GPathogenic
Select item 820002	NM_003002.4(SDHD):c.175T>C (p.Ser59Pro)	SDHD (S20P +1 more)	Single nucleotide variant (missense variant +2 more)	Carney-Stratakis syndrome +6 more	GUncertain significance
Select item 656860	NM_003002.4(SDHD):c.305A>G (p.His102Arg)	SDHD (H102R +1 more)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +5 more	GPathogenic/Likely pathogenic
Select item 655492	NM_003002.4(SDHD):c.232G>C (p.Gly78Arg)	SDHD (G39R +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
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 598762	NG_012337.3(SDHD):g.11847_14024del	SDHD	Deletion	Paragangliomas 1	GPathogenic
Select item 584289	NC_000011.10:g.(?_112094795)_(112094980_?)del	SDHD	Deletion	Paragangliomas 1 +3 more	GPathogenic
Select item 584168	NC_000011.10:g.(?_112086898)_(112094980_?)del	LOC126861339, SDHD	Deletion	Carney-Stratakis syndrome +4 more	GPathogenic
Select item 583927	NC_000011.9:g.(?_111957622)_(111965704_?)dup	LOC126861339, SDHD	Duplication	Paragangliomas 1 +3 more	GUncertain significance
Select item 583435	NC_000011.10:g.(?_112088857)_(112094980_?)del	SDHD	Deletion	Paragangliomas 1 +3 more	GPathogenic
Select item 579812	NM_003002.4(SDHD):c.53-1_53delinsTT	SDHD	Indel (splice acceptor variant +1 more)	Cowden syndrome 3 +3 more	GLikely pathogenic
Select item 578342	NM_003002.4(SDHD):c.421T>C (p.Tyr141His)	SDHD (Y141H +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Hereditary pheochromocytoma-paraganglioma +8 more	GUncertain significance
Select item 547770	NM_003002.4(SDHD):c.336dup (p.Asp113Ter)	SDHD (D74* +2 more)	Duplication (frameshift variant +3 more)	Pheochromocytoma +4 more	GPathogenic
Select item 547769	NM_003002.4(SDHD):c.18_21del (p.Leu7fs)	LOC126861339, SDHD (L7fs)	Deletion (frameshift variant +1 more)	Carney-Stratakis syndrome +4 more	GPathogenic/Likely pathogenic
Select item 533799	NC_000011.10:g.(?_112094799)_(112094976_?)del	SDHD	Deletion	Pheochromocytoma +3 more	GPathogenic
Select item 480806	NM_003002.4(SDHD):c.317G>T (p.Gly106Val)	SDHD (G106V +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic/Likely pathogenic
Select item 452309	NM_003002.4(SDHD):c.315-1G>A	SDHD	Single nucleotide variant (splice acceptor variant)	Carney-Stratakis syndrome +4 more	GLikely pathogenic
Select item 440262	NM_003002.4(SDHD):c.315-32T>C	SDHD	Single nucleotide variant (intron variant)	not specified +8 more	GBenign/Likely benign
Select item 440261	NM_003002.4(SDHD):c.170-29A>G	SDHD	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 425555	NM_003002.4(SDHD):c.298del (p.Thr100fs)	SDHD (T61fs +1 more)	Deletion (frameshift variant +2 more)	Paragangliomas 1	GLikely pathogenic
Select item 412515	NM_003002.4(SDHD):c.331G>A (p.Val111Ile)	SDHD (V111I +1 more)	Single nucleotide variant (synonymous variant +3 more)	Pheochromocytoma +7 more	GConflicting classifications of pathogenicity
Select item 412510	NM_003002.4(SDHD):c.148C>T (p.His50Tyr)	SDHD (H50Y)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +7 more	GUncertain significance
Select item 412505	NM_003002.4(SDHD):c.394del (p.Ser132fs)	SDHD (S132fs +2 more)	Deletion (frameshift variant +2 more)	Paragangliomas 1 +5 more	GPathogenic/Likely pathogenic
Select item 412501	NM_003002.4(SDHD):c.255G>C (p.Leu85Phe)	SDHD (L85F +1 more)	Single nucleotide variant (missense variant +2 more)	Pheochromocytoma +9 more	GConflicting classifications of pathogenicity
Select item 302481	NM_003002.4(SDHD):c.53C>T (p.Ala18Val)	SDHD (A18V)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +8 more	GConflicting classifications of pathogenicity
Select item 239658	NM_004168.4(SDHA):c.1754G>A (p.Arg585Gln)	SDHA (R585Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 239473	NM_003002.4(SDHD):c.473_*3dup (p.Lys158_Ter160=)	SDHD	Duplication (3 prime UTR variant +2 more)	Cowden syndrome 3 +3 more	GUncertain significance
Select item 239468	NM_003002.4(SDHD):c.335C>T (p.Thr112Ile)	SDHD (T112I +1 more)	Single nucleotide variant (synonymous variant +3 more)	Hereditary pheochromocytoma-paraganglioma +10 more	GUncertain significance
Select item 239464	NM_003002.4(SDHD):c.242del (p.Pro81fs)	SDHD (P81fs +1 more)	Deletion (frameshift variant +2 more)	Pheochromocytoma +5 more	GPathogenic
Select item 239461	NM_003002.4(SDHD):c.173del (p.Gly58fs)	SDHD (G58fs +1 more)	Deletion (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic
Select item 239460	NM_003002.4(SDHD):c.10dup (p.Leu4fs)	LOC126861339, SDHD (L4fs)	Duplication (frameshift variant +1 more)	Pheochromocytoma +4 more	GPathogenic
Select item 239459	NM_003002.3(SDHD):c.-84_*831del	LOC126861339, SDHD	Deletion	Paragangliomas 1 +1 more	GPathogenic
Select item 231390	NM_003002.4(SDHD):c.147dup (p.His50fs)	SDHD (H50fs)	Duplication (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic/Likely pathogenic
Select item 218581	NM_003002.4(SDHD):c.118A>C (p.Ile40Leu)	SDHD (I40L)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 212145	NM_003002.4(SDHD):c.312C>T (p.His104=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Paragangliomas 3 +9 more	GBenign/Likely benign
Select item 135196	NM_003002.4(SDHD):c.101T>G (p.Phe34Cys)	SDHD (F34C)	Single nucleotide variant (missense variant +2 more)	Cowden syndrome 3 +7 more	GConflicting classifications of pathogenicity
Select item 44650	NM_003002.4(SDHD):c.204C>T (p.Ser68=)	SDHD	Single nucleotide variant (synonymous variant +2 more)	Pheochromocytoma +9 more	GBenign/Likely benign
Select item 6916	NM_003002.4(SDHD):c.14G>A (p.Trp5Ter)	LOC126861339, SDHD (W5*)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 6915	NM_003002.4(SDHD):c.33C>A (p.Cys11Ter)	LOC126861339, SDHD (C11*)	Single nucleotide variant (nonsense +1 more)	Paragangliomas with sensorineural hearing loss +5 more	GPathogenic
Select item 6914	NC_000011.9:g.(?_111957571)_(111966518_?)del	SDHD	Deletion	Paragangliomas 1	GPathogenic
Select item 6913	NM_003002.4(SDHD):c.129G>A (p.Trp43Ter)	SDHD (W43*)	Single nucleotide variant (nonsense +2 more)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic
Select item 6912	NM_003002.4(SDHD):c.337_340del (p.Asp113fs)	SDHD (D113fs +2 more)	Deletion (frameshift variant +2 more)	Paragangliomas 1 +7 more	GPathogenic
Select item 6911	NM_003002.4(SDHD):c.1A>G (p.Met1Val)	LOC126861339, SDHD (M1V)	Single nucleotide variant (missense variant +2 more)	Paragangliomas with sensorineural hearing loss +3 more	GPathogenic
Select item 6910	NM_003002.4(SDHD):c.463del (p.Met155fs)	SDHD (M116fs +1 more)	Deletion (3 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 6909	NM_003002.4(SDHD):c.149A>G (p.His50Arg)	SDHD (H50R)	Single nucleotide variant (missense variant +2 more)	Paragangliomas 1 +7 more	GBenign/Likely benign
Select item 6908	NM_003002.4(SDHD):c.94_95del (p.Ala33fs)	SDHD (A33fs)	Microsatellite (frameshift variant +2 more)	Paragangliomas with sensorineural hearing loss +5 more	GPathogenic
Select item 6907	NM_003002.4(SDHD):c.416T>C (p.Leu139Pro)	SDHD (L139P +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Paragangliomas 1 +1 more	GPathogenic
Select item 6906	NM_003002.4(SDHD):c.3G>C (p.Met1Ile)	LOC126861339, SDHD (M1I)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic
Select item 6905	NM_003002.4(SDHD):c.278_280del (p.Tyr93del)	SDHD (Y93del +1 more)	Deletion (inframe_deletion +2 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 6904	NM_003002.4(SDHD):c.191_192del (p.Leu64fs)	SDHD (L64fs +1 more)	Microsatellite (frameshift variant +2 more)	Paragangliomas with sensorineural hearing loss +5 more	GPathogenic
Select item 6903	NM_003002.4(SDHD):c.64C>T (p.Arg22Ter)	SDHD (R22*)	Single nucleotide variant (nonsense +2 more)	Paragangliomas 1 +6 more	GPathogenic
Select item 6902	NM_003002.4(SDHD):c.443del (p.Gly148fs)	SDHD (G148fs +1 more)	Deletion (3 prime UTR variant +2 more)	Paragangliomas 1	GLikely pathogenic
Select item 6901	NM_003002.4(SDHD):c.95C>A (p.Ser32Ter)	SDHD (S32*)	Single nucleotide variant (nonsense +2 more)	Paragangliomas with sensorineural hearing loss +5 more	GPathogenic
Select item 6900	NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys)	SDHD (Y114C +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +6 more	GPathogenic
Select item 6899	NM_003002.4(SDHD):c.337_338insT (p.Asp113fs)	SDHD (D113fs +2 more)	Insertion (frameshift variant +2 more)	Paragangliomas 1	GPathogenic
Select item 6898	NM_003002.4(SDHD):c.305A>T (p.His102Leu)	SDHD (H102L +1 more)	Single nucleotide variant (missense variant +2 more)	Paragangliomas with sensorineural hearing loss +4 more	GPathogenic
Select item 6897	NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr)	SDHD (D92Y +1 more)	Single nucleotide variant (missense variant +2 more)	Paragangliomas 4 +6 more	GPathogenic/Likely pathogenic
Select item 6896	NM_003002.4(SDHD):c.242C>T (p.Pro81Leu)	SDHD (P81L +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary pheochromocytoma-paraganglioma +9 more	GPathogenic/Likely pathogenic
Select item 6895	NM_003002.4(SDHD):c.34G>A (p.Gly12Ser)	LOC126861339, SDHD (G12S)	Single nucleotide variant (missense variant +1 more)	Carney-Stratakis syndrome +8 more	GConflicting classifications of pathogenicity
Select item 6894	NM_003002.4(SDHD):c.52+2T>G	LOC126861339, SDHD	Single nucleotide variant (splice donor variant)	Pheochromocytoma	GLikely pathogenic
Select item 6893	NM_003002.4(SDHD):c.112C>T (p.Arg38Ter)	SDHD (R38*)	Single nucleotide variant (nonsense +2 more)	Paragangliomas 1 +7 more	GPathogenic
Select item 6892	NM_003002.4(SDHD):c.106C>T (p.Gln36Ter)	SDHD (Q36*)	Single nucleotide variant (nonsense +2 more)	Paragangliomas 1 +5 more	GPathogenic

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Items: 76