"Ambry Genetics"[submitter] AND "TTC19"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 321935	NM_001042697.2(ZSWIM7):c.74G>A (p.Arg25Gln)	ZSWIM7, TTC19 (R25Q)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 1 +1 more	GUncertain significance
Select item 3184141	NM_001042697.2(ZSWIM7):c.38T>C (p.Leu13Pro)	TTC19, ZSWIM7 (L13P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2223460	NM_001042697.2(ZSWIM7):c.-30C>G	LOC130060310, TTC19 +1 more	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2262587	NM_001042697.2(ZSWIM7):c.-36G>T	LOC130060310, TTC19 +1 more	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 3184136	NM_001042697.2(ZSWIM7):c.-51C>T	LOC130060310, TTC19 +1 more	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GLikely benign
Select item 2259967	NM_017775.2(TTC19):c.230C>T	TTC19	Single nucleotide variant	Inborn genetic diseases	GLikely benign
Select item 3184137	NM_017775.2(TTC19):c.265C>T	TTC19	Single nucleotide variant	Inborn genetic diseases	GUncertain significance
Select item 321939	NM_017775.3(TTC19):c.-83C>T	TTC19	Single nucleotide variant	Mitochondrial complex III deficiency nuclear type 1 +1 more	GUncertain significance
Select item 1210866	NM_017775.3(TTC19):c.-80C>T	TTC19	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2241097	NM_017775.2(TTC19):c.288T>G	TTC19	Single nucleotide variant	Inborn genetic diseases	GUncertain significance
Select item 2360176	NM_017775.2(TTC19):c.295G>A	TTC19	Single nucleotide variant	Inborn genetic diseases	GUncertain significance
Select item 2404096	NM_017775.2(TTC19):c.302G>A	TTC19	Single nucleotide variant	Inborn genetic diseases	GUncertain significance
Select item 2231169	NM_017775.2(TTC19):c.310G>T	LOC130060311, TTC19	Single nucleotide variant	Inborn genetic diseases	GUncertain significance
Select item 3184139	NM_017775.2(TTC19):c.313G>T	LOC130060311, TTC19	Single nucleotide variant	Inborn genetic diseases	GUncertain significance
Select item 2528439	NM_017775.2(TTC19):c.314G>C	LOC130060311, TTC19	Single nucleotide variant	Inborn genetic diseases	GUncertain significance
Select item 2521251	NM_017775.4(TTC19):c.-18A>G	LOC130060311, TTC19	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
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 2606388	NM_017775.4(TTC19):c.17G>A (p.Ser6Asn)	LOC130060311, TTC19 (S6N)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1492273	NM_017775.4(TTC19):c.49G>A (p.Ala17Thr)	LOC130060311, TTC19 (A17T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2619015	NM_017775.4(TTC19):c.71G>A (p.Cys24Tyr)	LOC130060311, TTC19 (C24Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3184140	NM_017775.4(TTC19):c.91G>C (p.Gly31Arg)	LOC130060311, TTC19 (G31R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 516796	NM_017775.4(TTC19):c.122A>G (p.Gln41Arg)	TTC19, LOC130060311 (Q41R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 321942	NM_017775.4(TTC19):c.155G>A (p.Arg52Gln)	LOC130060311, TTC19 (R52Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial complex III deficiency nuclear type 2 +1 more	GUncertain significance
Select item 2307037	NM_017775.4(TTC19):c.241G>C (p.Asp81His)	LOC130060311, TTC19 (D81H)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1931069	NM_017775.4(TTC19):c.254C>T (p.Ala85Val)	TTC19 (A85V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2339743	NM_017775.4(TTC19):c.262G>C (p.Gly88Arg)	TTC19 (G88R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2242559	NM_017775.4(TTC19):c.294G>C (p.Gln98His)	TTC19 (Q98H)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	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)	not provided +2 more	GUncertain significance
Select item 2228730	NM_017775.4(TTC19):c.312+3_312+76del	TTC19	Deletion (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 509771	NM_017775.4(TTC19):c.313-4T>C	TTC19	Single nucleotide variant (intron variant)	Inborn genetic diseases +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)	Mitochondrial complex III deficiency nuclear type 2 +1 more	GUncertain significance
Select item 2594529	NM_017775.4(TTC19):c.472C>G (p.Leu158Val)	TTC19 (L158V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231115	NM_017775.4(TTC19):c.487A>G (p.Met163Val)	TTC19 (M163V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495189	NM_017775.4(TTC19):c.488T>C (p.Met163Thr)	TTC19 (M56T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 624111	NM_017775.4(TTC19):c.599C>T (p.Ala200Val)	TTC19 (A200V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 3184142	NM_017775.4(TTC19):c.618T>G (p.Ile206Met)	TTC19 (I99M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219332	NM_017775.4(TTC19):c.631G>A (p.Glu211Lys)	TTC19 (E211K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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
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 2339353	NM_017775.4(TTC19):c.734G>C (p.Arg245Pro)	TTC19 (R245P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 215302	NM_017775.4(TTC19):c.787G>T (p.Ala263Ser)	TTC19 (A263S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2286563	NM_017775.4(TTC19):c.800C>T (p.Ser267Phe)	TTC19 (S267F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210756	NM_017775.4(TTC19):c.808A>G (p.Ile270Val)	TTC19 (I163V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2528134	NM_017775.4(TTC19):c.833C>T (p.Thr278Ile)	TTC19 (T171I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1905792	NM_017775.4(TTC19):c.880C>T (p.Arg294Cys)	TTC19 (R294C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 215296	NM_017775.4(TTC19):c.911G>C (p.Arg304Thr)	TTC19 (R304T +1 more)	Single nucleotide variant (missense variant)	TTC19-related condition +3 more	GBenign/Likely benign
Select item 2254225	NM_017775.4(TTC19):c.919G>A (p.Asp307Asn)	TTC19 (D200N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248978	NM_017775.4(TTC19):c.994+4G>C	TTC19	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2004603	NM_017775.4(TTC19):c.1012A>G (p.Lys338Glu)	TTC19 (K231E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 889943	NM_017775.4(TTC19):c.1063A>G (p.Ile355Val)	TTC19 (I248V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2323065	NM_017775.4(TTC19):c.1108A>G (p.Lys370Glu)	TTC19 (K263E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610718	NM_006311.4(NCOR1):c.7202T>C (p.Ile2401Thr)	NCOR1, TTC19 (I2401T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242519	NM_006311.4(NCOR1):c.7166C>T (p.Thr2389Ile)	NCOR1, TTC19 (T2286I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184619	NM_006311.4(NCOR1):c.7040C>T (p.Thr2347Met)	NCOR1, TTC19 (T2244M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302325	NM_006311.4(NCOR1):c.7027G>C (p.Gly2343Arg)	NCOR1, TTC19 (G2240R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184614	NM_006311.4(NCOR1):c.6957A>G (p.Gly2319=)	NCOR1, TTC19	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2306699	NM_006311.4(NCOR1):c.6939C>A (p.Asp2313Glu)	NCOR1, TTC19 (D2313E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184607	NM_006311.4(NCOR1):c.6934G>A (p.Gly2312Arg)	NCOR1, TTC19 (G2312R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236275	NM_006311.4(NCOR1):c.6833A>G (p.Lys2278Arg)	NCOR1, TTC19 (K2175R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495258	NM_006311.4(NCOR1):c.6817G>A (p.Gly2273Arg)	NCOR1, TTC19 (G2170R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356539	NM_006311.4(NCOR1):c.6773C>G (p.Ala2258Gly)	NCOR1, TTC19 (A2258G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184597	NM_006311.4(NCOR1):c.6736T>G (p.Ser2246Ala)	NCOR1, TTC19 (S2246A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 64