ClinVar for MedGen (Select 766288) - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2637678	NM_020312.4(COQ9):c.157C>T (p.Gln53Ter)	COQ9 (Q53*)	Single nucleotide variant (nonsense)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	GPathogenic
Select item 1931230	NM_020312.4(COQ9):c.679_680del (p.Met227fs)	COQ9 (M227fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1924901	NM_020312.4(COQ9):c.197_198del (p.Gln66fs)	COQ9 (Q66fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1369063	NM_020312.4(COQ9):c.37G>A (p.Ala13Thr)	COQ9, LOC112469007 (A13T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1324162	NM_020312.4(COQ9):c.522-1G>A	COQ9	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 1324161	NM_020312.4(COQ9):c.74-2A>G	COQ9	Single nucleotide variant (splice acceptor variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	GLikely pathogenic
Select item 1032073	NM_020312.4(COQ9):c.449T>C (p.Val150Ala)	COQ9 (V150A)	Single nucleotide variant (missense variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	GUncertain significance
Select item 1027680	NM_020312.4(COQ9):c.73G>A (p.Val25Met)	COQ9, LOC112469007 (V25M)	Single nucleotide variant (missense variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	GPathogenic
Select item 887978	NM_020312.4(COQ9):c.*545G>T	COQ9	Single nucleotide variant (3 prime UTR variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	GUncertain significance
Select item 887926	NM_020312.4(COQ9):c.163C>A (p.Pro55Thr)	COQ9 (P55T)	Single nucleotide variant (missense variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	GUncertain significance
Select item 887925	NM_020312.4(COQ9):c.71C>T (p.Pro24Leu)	COQ9, LOC112469007 (P24L)	Single nucleotide variant (missense variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome +1 more	GConflicting classifications of pathogenicity
Select item 887924	NM_020312.4(COQ9):c.20C>T (p.Ser7Phe)	COQ9, LOC112469007 (S7F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 886724	NM_020312.4(COQ9):c.*411C>T	COQ9	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 886723	NM_020312.4(COQ9):c.*378G>A	COQ9	Single nucleotide variant (3 prime UTR variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	GUncertain significance
Select item 886722	NM_020312.4(COQ9):c.*168A>G	COQ9	Single nucleotide variant (3 prime UTR variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	GUncertain significance
Select item 886670	NM_020312.4(COQ9):c.-27G>C	COQ9, LOC112469007	Single nucleotide variant (5 prime UTR variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	GUncertain significance
Select item 885717	NM_020312.4(COQ9):c.849G>C (p.Met283Ile)	COQ9 (M283I)	Single nucleotide variant (missense variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	GUncertain significance
Select item 884777	NM_020312.4(COQ9):c.679A>G (p.Met227Val)	COQ9 (M227V)	Single nucleotide variant (missense variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	GUncertain significance
Select item 884776	NM_020312.4(COQ9):c.379-9C>T	COQ9	Single nucleotide variant (intron variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome +1 more	GConflicting classifications of pathogenicity
Select item 884775	NM_020312.4(COQ9):c.378+9A>G	COQ9	Single nucleotide variant (intron variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	GUncertain significance
Select item 377744	NM_020312.4(COQ9):c.826C>T (p.Arg276Trp)	COQ9 (R276W)	Single nucleotide variant (missense variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome +1 more	GBenign/Likely benign
Select item 320019	NM_020312.4(COQ9):c.*630A>G	COQ9	Single nucleotide variant (3 prime UTR variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	GUncertain significance
Select item 320018	NM_020312.4(COQ9):c.*622A>G	COQ9	Single nucleotide variant (3 prime UTR variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	GUncertain significance
Select item 320017	NM_020312.4(COQ9):c.*565G>T	COQ9	Single nucleotide variant (3 prime UTR variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	GUncertain significance
Select item 320016	NM_020312.4(COQ9):c.*492C>T	COQ9	Single nucleotide variant (3 prime UTR variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	GUncertain significance
Select item 320015	NM_020312.4(COQ9):c.*490T>C	COQ9	Single nucleotide variant (3 prime UTR variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome +1 more	GBenign
Select item 320014	NM_020312.4(COQ9):c.*456C>A	COQ9	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 320013	NM_020312.4(COQ9):c.*134A>G	COQ9	Single nucleotide variant (3 prime UTR variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	GUncertain significance
Select item 320012	NM_020312.4(COQ9):c.*100C>T	COQ9	Single nucleotide variant (3 prime UTR variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	GLikely benign
Select item 320011	NM_020312.4(COQ9):c.*74G>A	COQ9	Single nucleotide variant (3 prime UTR variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	GUncertain significance
Select item 320010	NM_020312.4(COQ9):c.812G>A (p.Arg271His)	COQ9 (R271H)	Single nucleotide variant (missense variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	GUncertain significance
Select item 320009	NM_020312.4(COQ9):c.404C>T (p.Ala135Val)	COQ9 (A135V)	Single nucleotide variant (missense variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	GUncertain significance
Select item 320008	NM_020312.4(COQ9):c.337G>A (p.Ala113Thr)	COQ9 (A113T)	Single nucleotide variant (missense variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome +1 more	GLikely benign
Select item 320007	NM_020312.4(COQ9):c.315G>A (p.Thr105=)	COQ9	Single nucleotide variant (synonymous variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome +2 more	GConflicting classifications of pathogenicity
Select item 320006	NM_020312.4(COQ9):c.305G>A (p.Arg102His)	COQ9 (R102H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 320005	NM_020312.4(COQ9):c.240C>G (p.Pro80=)	COQ9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 320002	NM_020312.4(COQ9):c.-25C>G	COQ9, LOC112469007	Single nucleotide variant (5 prime UTR variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	GUncertain significance
Select item 214248	NM_020312.4(COQ9):c.323T>G (p.Leu108Arg)	COQ9 (L108R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 214245	NM_020312.4(COQ9):c.362T>C (p.Ile121Thr)	COQ9 (I121T)	Single nucleotide variant (missense variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome +1 more	GConflicting classifications of pathogenicity
Select item 214243	NM_020312.4(COQ9):c.835G>A (p.Asp279Asn)	COQ9 (D279N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 214241	NM_020312.4(COQ9):c.184C>T (p.His62Tyr)	COQ9 (H62Y)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 214240	NM_020312.4(COQ9):c.79C>G (p.Arg27Gly)	COQ9 (R27G)	Single nucleotide variant (missense variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome +1 more	GBenign/Likely benign
Select item 192296	NM_020312.4(COQ9):c.521+1del	COQ9	Deletion (splice donor variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	GPathogenic
Select item 136994	NM_020312.4(COQ9):c.379-16G>C	COQ9	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 136993	NM_020312.4(COQ9):c.102G>A (p.Pro34=)	COQ9	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 136992	NM_020312.4(COQ9):c.74-13G>A	COQ9	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 136991	NM_020312.4(COQ9):c.921+13C>T	COQ9	Single nucleotide variant (intron variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome +2 more	GBenign/Likely benign
Select item 136990	NM_020312.4(COQ9):c.921+11C>A	COQ9	Single nucleotide variant (intron variant)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome +2 more	GBenign/Likely benign
Select item 136989	NM_020312.4(COQ9):c.864G>C (p.Lys288Asn)	COQ9 (K288N)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 136988	NM_020312.4(COQ9):c.625C>G (p.Leu209Val)	COQ9 (L209V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 431	NM_020312.4(COQ9):c.730C>T (p.Arg244Ter)	COQ9 (R244*)	Single nucleotide variant (nonsense)	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome +1 more	GPathogenic

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Items: 51