ClinVar for MedGen (Select 767519) - ClinVar

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Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065645	NM_017775.4(TTC19):c.184+1G>A	LOC130060311, TTC19	Single nucleotide variant (splice donor variant)	Mitochondrial complex III deficiency nuclear type 2	GLikely pathogenic
Select item 2690770	NM_017775.4(TTC19):c.463-1G>C	TTC19	Single nucleotide variant (splice acceptor variant)	Mitochondrial complex III deficiency nuclear type 2	GLikely pathogenic
Select item 2683759	NM_017775.4(TTC19):c.519+2T>A	TTC19	Single nucleotide variant (splice donor variant)	Mitochondrial complex III deficiency nuclear type 2	GLikely pathogenic
Select item 2585605	NM_017775.4(TTC19):c.1002T>A (p.Tyr334Ter)	TTC19 (Y334* +1 more)	Single nucleotide variant (nonsense)	Mitochondrial complex III deficiency nuclear type 2	GUncertain significance
Select item 2579225	GRCh38/hg38 17p12(chr17:16018139-16028011)x0	LOC129390841, TTC19	Copy number loss	Mitochondrial complex III deficiency nuclear type 2	GPathogenic
Select item 2441843	NM_017775.4(TTC19):c.903dup (p.Met302fs)	TTC19 (M195fs +1 more)	Duplication (frameshift variant)	Mitochondrial complex III deficiency nuclear type 2	GLikely pathogenic
Select item 2054602	NM_017775.4(TTC19):c.906G>A (p.Met302Ile)	TTC19 (M302I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1342856	NM_017775.4(TTC19):c.312+43C>A	TTC19	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex III deficiency nuclear type 2	GBenign
Select item 1323720	NM_017775.4(TTC19):c.581+1G>A	TTC19	Single nucleotide variant (splice donor variant)	Mitochondrial complex III deficiency nuclear type 2	GPathogenic
Select item 1224818	NM_017775.4(TTC19):c.313-39A>G	TTC19	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1032000	NM_017775.4(TTC19):c.200C>T (p.Ser67Leu)	LOC130060311, TTC19 (S67L)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex III deficiency nuclear type 2	GUncertain significance
Select item 1028053	NM_017775.4(TTC19):c.988C>G (p.His330Asp)	TTC19 (H330D +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 2	GUncertain significance
Select item 982299	NM_017775.4(TTC19):c.424-3C>G	TTC19	Single nucleotide variant (intron variant)	Mitochondrial complex III deficiency nuclear type 2	GUncertain significance
Select item 982298	NM_017775.4(TTC19):c.583C>T (p.Gln195Ter)	TTC19 (Q195* +1 more)	Single nucleotide variant (nonsense)	Mitochondrial complex III deficiency nuclear type 2 +1 more	GPathogenic/Likely pathogenic
Select item 891749	NM_017775.4(TTC19):c.*536C>T	TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2	GUncertain significance
Select item 891679	NM_017775.4(TTC19):c.371G>A (p.Arg124His)	TTC19 (R124H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 891678	NM_017775.4(TTC19):c.304C>G (p.Arg102Gly)	TTC19 (R102G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 891562	NM_017775.4(TTC19):c.*1589T>C	TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2	GLikely benign
Select item 891561	NM_017775.4(TTC19):c.*1496A>G	TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2	GUncertain significance
Select item 891560	NM_017775.4(TTC19):c.*1469G>A	TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2	GUncertain significance
Select item 891559	NM_017775.4(TTC19):c.*1464A>C	TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2	GUncertain significance
Select item 891501	NM_017775.4(TTC19):c.*258C>G	TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2	GUncertain significance
Select item 891500	NM_017775.4(TTC19):c.*226T>C	TTC19	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 891499	NM_017775.4(TTC19):c.*220G>A	TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2	GUncertain significance
Select item 891498	NM_017775.4(TTC19):c.*219C>T	TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2	GUncertain significance
Select item 891497	NM_017775.4(TTC19):c.*195A>G	TTC19	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 891496	NM_017775.4(TTC19):c.*175A>C	TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2	GUncertain significance
Select item 890004	NM_017775.4(TTC19):c.*1333A>G	TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2	GUncertain significance
Select item 890003	NM_017775.4(TTC19):c.*1169G>A	TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2	GUncertain significance
Select item 890002	NM_017775.4(TTC19):c.*1152C>T	TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2	GUncertain significance
Select item 889943	NM_017775.4(TTC19):c.1063A>G (p.Ile355Val)	TTC19 (I248V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 889942	NM_017775.4(TTC19):c.1038G>A (p.Lys346=)	TTC19	Single nucleotide variant (synonymous variant)	Mitochondrial complex III deficiency nuclear type 2	GUncertain significance
Select item 889941	NM_017775.4(TTC19):c.998G>A (p.Arg333Gln)	TTC19 (R226Q +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 2 +1 more	GUncertain significance
Select item 889321	NM_017775.4(TTC19):c.*1012T>C	TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2	GBenign
Select item 889320	NM_017775.4(TTC19):c.*1003C>T	TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2	GUncertain significance
Select item 889319	NM_017775.4(TTC19):c.*999T>C	TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2	GUncertain significance
Select item 889318	NM_017775.4(TTC19):c.*834C>T	TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2	GUncertain significance
Select item 889258	NM_017775.4(TTC19):c.713T>C (p.Met238Thr)	TTC19 (M131T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 889257	NM_017775.4(TTC19):c.677-6C>T	TTC19	Single nucleotide variant (intron variant)	Mitochondrial complex III deficiency nuclear type 2	GUncertain significance
Select item 889256	NM_017775.4(TTC19):c.581+4A>C	TTC19	Single nucleotide variant (intron variant)	Mitochondrial complex III deficiency nuclear type 2	GUncertain significance
Select item 873487	NM_017775.4(TTC19):c.581+1_581+5del	TTC19	Deletion (splice donor variant)	Mitochondrial complex III deficiency nuclear type 2	GLikely pathogenic
Select item 749241	NM_017775.4(TTC19):c.898A>C (p.Ile300Leu)	TTC19 (I300L +1 more)	Single nucleotide variant (missense variant)	TTC19-related condition +2 more	GConflicting classifications of pathogenicity
Select item 547995	NM_017775.4(TTC19):c.766G>A (p.Ala256Thr)	TTC19 (A149T +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 2	GUncertain significance
Select item 516796	NM_017775.4(TTC19):c.122A>G (p.Gln41Arg)	LOC130060311, TTC19 (Q41R)	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex III deficiency nuclear type 2 +3 more	GConflicting classifications of pathogenicity
Select item 509771	NM_017775.4(TTC19):c.313-4T>C	TTC19	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 488973	NM_017775.4(TTC19):c.1A>G (p.Met1Val)	LOC130060311, TTC19 (M1V)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 437427	NM_017775.4(TTC19):c.554T>C (p.Leu185Pro)	TTC19 (L185P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 437076	NM_017775.4(TTC19):c.817G>T (p.Glu273Ter)	TTC19 (E273* +1 more)	Single nucleotide variant (nonsense)	Mitochondrial complex III deficiency nuclear type 2	GPathogenic
Select item 321984	NM_017775.4(TTC19):c.*1791T>C	NCOR1, TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2	GBenign
Select item 321983	NM_017775.4(TTC19):c.*1738T>C	NCOR1, TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2	GUncertain significance
Select item 321982	NM_017775.4(TTC19):c.*1562A>G	TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2	GUncertain significance
Select item 321981	NM_017775.4(TTC19):c.*1543A>G	TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2	GLikely benign
Select item 321979	NM_017775.4(TTC19):c.*1321A>C	TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2	GUncertain significance
Select item 321978	NM_017775.4(TTC19):c.*1320A>C	TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2	GUncertain significance
Select item 321977	NM_017775.4(TTC19):c.*1318A>C	TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2	GUncertain significance
Select item 321968	NM_017775.4(TTC19):c.*1194T>A	TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2 +1 more	GConflicting classifications of pathogenicity
Select item 321967	NM_017775.4(TTC19):c.*1099C>T	TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2	GUncertain significance
Select item 321966	NM_017775.4(TTC19):c.*1008G>A	TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2	GUncertain significance
Select item 321965	NM_017775.4(TTC19):c.*971G>A	TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2	GLikely benign
Select item 321964	NM_017775.4(TTC19):c.*857G>A	TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2	GBenign
Select item 321963	NM_017775.4(TTC19):c.*753A>G	TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2	GUncertain significance
Select item 321962	NM_017775.4(TTC19):c.*746C>G	TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2	GUncertain significance
Select item 321961	NM_017775.4(TTC19):c.*709T>A	LOC130060312, TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2	GLikely benign
Select item 321960	NM_017775.4(TTC19):c.*676C>T	LOC130060312, TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2	GUncertain significance
Select item 321958	NM_017775.4(TTC19):c.*600G>A	TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2	GLikely benign
Select item 321957	NM_017775.4(TTC19):c.*578C>T	TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2	GUncertain significance
Select item 321955	NM_017775.4(TTC19):c.*335C>T	TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2 +1 more	GConflicting classifications of pathogenicity
Select item 321954	NM_017775.4(TTC19):c.*301G>A	TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2	GUncertain significance
Select item 321953	NM_017775.4(TTC19):c.*297G>A	TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2	GUncertain significance
Select item 321952	NM_017775.4(TTC19):c.*46T>C	TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2 +1 more	GBenign
Select item 321951	NM_017775.4(TTC19):c.*27G>A	TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2 +1 more	GConflicting classifications of pathogenicity
Select item 321949	NM_017775.4(TTC19):c.994+3A>T	TTC19	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 321948	NM_017775.4(TTC19):c.781G>A (p.Glu261Lys)	TTC19 (E261K +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 2	GUncertain significance
Select item 321947	NM_017775.4(TTC19):c.758C>T (p.Pro253Leu)	TTC19 (P253L +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 321946	NM_017775.4(TTC19):c.439T>C (p.Phe147Leu)	TTC19 (F147L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 321945	NM_017775.4(TTC19):c.421T>G (p.Leu141Val)	TTC19 (L141V +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 2	GUncertain significance
Select item 321944	NM_017775.4(TTC19):c.364G>A (p.Ala122Thr)	TTC19 (A122T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 321943	NM_017775.4(TTC19):c.270C>G (p.Asp90Glu)	TTC19 (D90E)	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex III deficiency nuclear type 2	GUncertain significance
Select item 321942	NM_017775.4(TTC19):c.155G>A (p.Arg52Gln)	LOC130060311, TTC19 (R52Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 321941	NM_017775.4(TTC19):c.146C>T (p.Pro49Leu)	LOC130060311, TTC19 (P49L)	Single nucleotide variant (5 prime UTR variant +1 more)	TTC19-related condition +2 more	GConflicting classifications of pathogenicity
Select item 321940	NM_017775.4(TTC19):c.25C>T (p.Leu9=)	LOC130060311, TTC19	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex III deficiency nuclear type 2 +1 more	GConflicting classifications of pathogenicity
Select item 215307	NM_017775.4(TTC19):c.612C>G (p.Phe204Leu)	TTC19 (F204L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 215305	NM_017775.4(TTC19):c.997C>T (p.Arg333Ter)	TTC19 (R333* +1 more)	Single nucleotide variant (nonsense)	Mitochondrial complex III deficiency nuclear type 2 +1 more	GUncertain significance
Select item 215304	NM_017775.4(TTC19):c.820A>G (p.Arg274Gly)	TTC19 (R274G +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 215303	NM_017775.4(TTC19):c.7C>T (p.Arg3Trp)	LOC130060311, TTC19 (R3W)	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex III deficiency nuclear type 2 +1 more	GConflicting classifications of pathogenicity
Select item 215302	NM_017775.4(TTC19):c.787G>T (p.Ala263Ser)	TTC19 (A263S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 215297	NM_017775.4(TTC19):c.1004C>T (p.Thr335Ile)	TTC19 (T335I +1 more)	Single nucleotide variant (missense variant)	TTC19-related condition +3 more	GConflicting classifications of pathogenicity
Select item 137773	NM_017775.4(TTC19):c.-1C>T	LOC130060311, TTC19	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 137772	NM_017775.4(TTC19):c.-15G>A	TTC19, LOC130060311	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 137767	NM_017775.4(TTC19):c.573G>A (p.Ala191=)	TTC19	Single nucleotide variant (synonymous variant)	Mitochondrial complex III deficiency nuclear type 2 +2 more	GBenign
Select item 137766	NM_017775.4(TTC19):c.1041A>G (p.Gln347=)	TTC19	Single nucleotide variant (synonymous variant)	Mitochondrial complex III deficiency nuclear type 2 +2 more	GConflicting classifications of pathogenicity
Select item 102440	NM_017775.4(TTC19):c.829C>T (p.Gln277Ter)	TTC19 (Q277* +1 more)	Single nucleotide variant (nonsense)	Mitochondrial complex III deficiency nuclear type 2	GPathogenic
Select item 102439	TTC19, 4-BP DEL, 964GGCT	TTC19	Deletion	Mitochondrial complex III deficiency nuclear type 2	GPathogenic
Select item 102438	TTC19, TRP186TER	TTC19	Variation	Mitochondrial complex III deficiency nuclear type 2	GPathogenic
Select item 102437	NM_017775.4(TTC19):c.601_604del (p.Gly201fs)	TTC19 (G201fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 31074	NM_017775.4(TTC19):c.517C>T (p.Gln173Ter)	TTC19 (Q173* +1 more)	Single nucleotide variant (nonsense)	Mitochondrial complex III deficiency nuclear type 2	GPathogenic
Select item 31073	NM_017775.4(TTC19):c.656T>G (p.Leu219Ter)	TTC19 (L219* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic

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Items: 97