ClinVar for Gene (Select 54902) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3329790	NM_017775.2(TTC19):c.329T>A	LOC130060311, TTC19	Single nucleotide variant	Inborn genetic diseases	GUncertain significance
Select item 3329789	NM_001042697.2(ZSWIM7):c.76+30C>G	TTC19, ZSWIM7	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3329788	NM_017775.4(TTC19):c.313-1G>C	TTC19	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GUncertain significance
Select item 3329787	NM_017775.4(TTC19):c.143C>A (p.Ala48Glu)	LOC130060311, TTC19 (A48E)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3329786	NM_017775.4(TTC19):c.996A>C (p.Glu332Asp)	TTC19 (E332D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329785	NM_017775.4(TTC19):c.413C>T (p.Thr138Ile)	TTC19 (T138I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3329784	NM_017775.4(TTC19):c.881G>A (p.Arg294His)	TTC19 (R294H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3329783	NM_001042697.2(ZSWIM7):c.-100G>A	TTC19, ZSWIM7	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 3298901	NM_006311.4(NCOR1):c.6976C>A (p.Leu2326Met)	NCOR1, TTC19 (L2223M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3252023	NM_017775.4(TTC19):c.718_719insA (p.Leu240fs)	TTC19 (L133fs +1 more)	Insertion (frameshift variant)	Mitochondrial complex III deficiency nuclear type 2	GPathogenic
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 3184614	NM_006311.4(NCOR1):c.6957A>G (p.Gly2319=)	NCOR1, TTC19	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 3184597	NM_006311.4(NCOR1):c.6736T>G (p.Ser2246Ala)	NCOR1, TTC19 (S2246A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 3184139	NM_017775.2(TTC19):c.313G>T	LOC130060311, TTC19	Single nucleotide variant	Inborn genetic diseases	GUncertain significance
Select item 3184137	NM_017775.2(TTC19):c.265C>T	TTC19	Single nucleotide 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 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 3063517	GRCh37/hg19 17p12-11.2(chr17:15759103-20564268)x1	ADORA2B, AKAP10 +61 more	Copy number loss	not specified	GPathogenic
Select item 3063493	GRCh37/hg19 17p12-11.2(chr17:15872060-16909718)x3	ADORA2B, CCDC144A +11 more	Copy number gain	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3037618	NM_017775.3(TTC19):c.-50G>T	LOC130060311, TTC19	Single nucleotide variant	TTC19-related disorder	GLikely benign
Select item 3035375	NM_017775.4(TTC19):c.273G>A (p.Glu91=)	TTC19	Single nucleotide variant (5 prime UTR variant +1 more)	TTC19-related disorder	GLikely benign
Select item 3015788	NM_017775.4(TTC19):c.870T>C (p.Asp290=)	TTC19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002089	NM_017775.4(TTC19):c.361G>C (p.Asp121His)	TTC19 (D121H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997610	NM_017775.4(TTC19):c.879C>T (p.Gly293=)	TTC19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987382	NM_017775.4(TTC19):c.666C>T (p.Asp222=)	TTC19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978971	NM_017775.4(TTC19):c.1002T>C (p.Tyr334=)	TTC19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977573	NM_017775.4(TTC19):c.789T>C (p.Ala263=)	TTC19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962020	NM_017775.4(TTC19):c.87C>G (p.Leu29=)	LOC130060311, TTC19	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2872621	NM_017775.4(TTC19):c.994+19_994+20del	TTC19	Deletion (intron variant)	not provided	GLikely benign
Select item 2869400	NM_017775.4(TTC19):c.162A>C (p.Pro54=)	LOC130060311, TTC19	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2844539	NM_017775.4(TTC19):c.294G>A (p.Gln98=)	TTC19	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2722111	NM_017775.4(TTC19):c.462+19A>G	TTC19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2696011	NM_017775.4(TTC19):c.463-11T>C	TTC19	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2685597	GRCh37/hg19 17p12-11.2(chr17:15694772-20582794)x1	ADORA2B, AKAP10 +61 more	Copy number loss	not provided	GPathogenic
Select item 2684836	GRCh37/hg19 17p12-11.2(chr17:15633208-16567624)x3	ADORA2B, CENPV +10 more	Copy number gain	not provided	GUncertain significance
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 2683410	NM_017775.4(TTC19):c.514A>C (p.Lys172Gln)	TTC19 (K172Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2647503	NM_017775.4(TTC19):c.1316_1324del	TTC19	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 2647502	NM_017775.4(TTC19):c.1312_1324dup	TTC19	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 2633641	NM_006311.4(NCOR1):c.6728C>T (p.Thr2243Met)	NCOR1, TTC19 (T2140M +1 more)	Single nucleotide variant (missense variant)	NCOR1-related disorder	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 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 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 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 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 2573001	NM_017775.4(TTC19):c.451C>T (p.Gln151Ter)	TTC19 (Q151* +1 more)	Single nucleotide variant (nonsense)	Mitochondrial disease	GPathogenic
Select item 2528439	NM_017775.2(TTC19):c.314G>C	LOC130060311, TTC19	Single nucleotide variant	Inborn genetic diseases	GUncertain significance
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 2521251	NM_017775.4(TTC19):c.-18A>G	LOC130060311, TTC19	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	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 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 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 2420754	NM_017775.4(TTC19):c.734G>A (p.Arg245His)	TTC19 (R138H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2415764	NM_017775.4(TTC19):c.724G>A (p.Ala242Thr)	TTC19 (A135T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2404096	NM_017775.2(TTC19):c.302G>A	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 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 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 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 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 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 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 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 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 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 2259967	NM_017775.2(TTC19):c.230C>T	TTC19	Single nucleotide variant	Inborn genetic diseases	GLikely 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 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 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 2241097	NM_017775.2(TTC19):c.288T>G	TTC19	Single nucleotide variant	Inborn genetic diseases	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 2231169	NM_017775.2(TTC19):c.310G>T	LOC130060311, TTC19	Single nucleotide 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 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 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 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 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 2197722	NM_017775.4(TTC19):c.909A>G (p.Gln303=)	TTC19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2187149	NM_017775.4(TTC19):c.965G>A (p.Ser322Asn)	TTC19 (S215N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2185439	NM_017775.4(TTC19):c.194G>C (p.Trp65Ser)	LOC130060311, TTC19 (W65S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2176340	NM_017775.4(TTC19):c.184+8G>T	LOC130060311, TTC19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2174975	NM_017775.4(TTC19):c.447G>A (p.Arg149=)	TTC19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2172473	NM_017775.4(TTC19):c.1006C>T (p.Gln336Ter)	TTC19 (Q229* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2172325	NM_017775.4(TTC19):c.424-1G>A	TTC19	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2115042	NM_017775.4(TTC19):c.312G>A (p.Lys104=)	TTC19	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2109652	NM_017775.4(TTC19):c.4T>G (p.Phe2Val)	LOC130060311, TTC19 (F2V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2082402	NM_017775.4(TTC19):c.1086A>G (p.Glu362=)	TTC19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2081198	NM_017775.4(TTC19):c.255C>T (p.Ala85=)	TTC19	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2077297	NM_017775.4(TTC19):c.432C>G (p.Asn144Lys)	TTC19 (N144K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2042218	NM_017775.4(TTC19):c.38T>G (p.Phe13Cys)	LOC130060311, TTC19 (F13C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2041768	NM_017775.4(TTC19):c.1101G>C (p.Leu367=)	TTC19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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