TTC19[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58693	GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3	LOC130060335, LOC130060336 +242 more	Copy number gain	See cases	GPathogenic
Select item 1707454	Single allele	ADORA2B, ARHGAP44 +228 more	Duplication	not specified	GPathogenic
Select item 154979	GRCh38/hg38 17p12-11.2(chr17:15066799-17472457)x1	ADORA2B, CCDC144A +137 more	Copy number loss	See cases	GPathogenic
Select item 148088	GRCh38/hg38 17p12-11.2(chr17:15210400-18280816)x3	LOC284191, LRRC75A +216 more	Copy number gain	See cases	GPathogenic
Select item 58104	GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3	ADORA2B, AKAP10 +333 more	Copy number gain	See cases	GPathogenic
Select item 58107	GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3	ADORA2B, AKAP10 +337 more	Copy number gain	See cases	GPathogenic
Select item 153990	GRCh38/hg38 17p12-11.2(chr17:15552362-19014200)x3	ADORA2B, ALKBH5 +240 more	Copy number gain	See cases	GPathogenic
Select item 155418	GRCh38/hg38 17p12-11.2(chr17:15729893-20510251)x1	LOC126862516, LOC126862517 +314 more	Copy number loss	See cases	GPathogenic
Select item 56996	GRCh38/hg38 17p12-11.2(chr17:15776915-18771753)x1	LOC130060335, LOC130060336 +217 more	Copy number loss	See cases	GPathogenic
Select item 153341	GRCh38/hg38 17p12-11.2(chr17:15784832-16860143)x3	ADORA2B, CCDC144A +64 more	Copy number gain	See cases	GUncertain significance
Select item 155583	GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1	FAM106C, FAM83G +311 more	Copy number loss	See cases	GPathogenic
Select item 155110	GRCh38/hg38 17p12-11.2(chr17:15883037-20658018)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 150691	GRCh38/hg38 17p12-11.2(chr17:15883037-20620700)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 57018	GRCh38/hg38 17p12-11.2(chr17:15898032-20620700)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 60429	GRCh38/hg38 17p12-11.2(chr17:15952071-18362819)x1	ADORA2B, ALKBH5 +199 more	Copy number loss	See cases	GPathogenic
Select item 1218662	NC_000017.11:g.15999042C>T	ZSWIM7, TTC19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673801	NM_017775.3(TTC19):c.-621G>C	TTC19, ZSWIM7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676616	NM_017775.3(TTC19):c.-514T>G	LOC130060309, TTC19 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208591	NC_000017.11:g.15999349T>G	LOC130060309, TTC19 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 321933	NM_017775.3(TTC19):c.-452G>A	LOC130060309, TTC19 +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 321934	NM_017775.3(TTC19):c.-444T>C	ZSWIM7, LOC130060309 +1 more	Single nucleotide variant (intron variant)	Mitochondrial complex III deficiency nuclear type 1	GUncertain significance
Select item 3329789	NM_017775.3(TTC19):c.-360G>C	TTC19, ZSWIM7	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 137768	NM_017775.3(TTC19):c.-347C>A	TTC19, ZSWIM7	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 137769	NM_017775.3(TTC19):c.-340G>C	TTC19, ZSWIM7	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 321935	NM_001042697.2(ZSWIM7):c.74G>A (p.Arg25Gln)	TTC19, ZSWIM7 (R25Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3184141	NM_017775.3(TTC19):c.-292A>G	TTC19, ZSWIM7 (L13P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2223460	NM_017775.3(TTC19):c.-225G>C	LOC130060310, TTC19 +1 more	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2262587	NM_017775.3(TTC19):c.-219C>A	LOC130060310, TTC19 +1 more	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 3184136	NM_017775.3(TTC19):c.-204G>A	LOC130060310, TTC19 +1 more	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GLikely benign
Select item 321936	NM_017775.3(TTC19):c.-190C>T	LOC130060310, TTC19 +1 more	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 1	GUncertain significance
Select item 321937	NM_017775.3(TTC19):c.-178C>T	TTC19, ZSWIM7	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 381081	NM_017775.3(TTC19):c.-169C>A	TTC19, ZSWIM7	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 137770	NM_017775.3(TTC19):c.-169C>G	TTC19, ZSWIM7	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 3329783	NM_017775.3(TTC19):c.-155C>T	TTC19, ZSWIM7	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 321938	NM_017775.3(TTC19):c.-141G>A	TTC19	Single nucleotide variant	Mitochondrial complex III deficiency nuclear type 1	GUncertain significance
Select item 2259967	NM_017775.3(TTC19):c.-134C>T	TTC19	Single nucleotide variant	Inborn genetic diseases	GLikely benign
Select item 137771	NM_017775.3(TTC19):c.-107A>T	TTC19	Single nucleotide variant	Mitochondrial complex III deficiency nuclear type 1 +1 more	GConflicting classifications of pathogenicity
Select item 3184137	NM_017775.3(TTC19):c.-99C>T	TTC19	Single nucleotide variant	Inborn genetic diseases	GUncertain significance
Select item 321939	NM_017775.3(TTC19):c.-83C>T	TTC19	Single nucleotide variant	Inborn genetic diseases +1 more	GUncertain significance
Select item 1210866	NM_017775.3(TTC19):c.-80C>T	TTC19	Single nucleotide variant	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2241097	NM_017775.3(TTC19):c.-76T>G	TTC19	Single nucleotide variant	Inborn genetic diseases	GUncertain significance
Select item 281909	NM_017775.3(TTC19):c.-73G>A	TTC19	Single nucleotide variant	Mitochondrial complex III deficiency nuclear type 1 +1 more	GUncertain significance
Select item 2360176	NM_017775.3(TTC19):c.-69G>A	TTC19	Single nucleotide variant	Inborn genetic diseases	GUncertain significance
Select item 2404096	NM_017775.3(TTC19):c.-62G>A	TTC19	Single nucleotide variant	Inborn genetic diseases	GUncertain significance
Select item 2231169	NM_017775.3(TTC19):c.-54G>T	LOC130060311, TTC19	Single nucleotide variant	Inborn genetic diseases	GUncertain significance
Select item 3184139	NM_017775.3(TTC19):c.-51G>T	LOC130060311, TTC19	Single nucleotide variant	Inborn genetic diseases	GUncertain significance
Select item 3037618	NM_017775.3(TTC19):c.-50G>T	LOC130060311, TTC19	Single nucleotide variant	TTC19-related disorder	GLikely benign
Select item 2528439	NM_017775.3(TTC19):c.-50G>C	LOC130060311, TTC19	Single nucleotide variant	Inborn genetic diseases	GUncertain significance
Select item 215298	NM_017775.3(TTC19):c.-44A>G	LOC130060311, TTC19	Single nucleotide variant	not specified	GLikely benign
Select item 215308	NM_017775.3(TTC19):c.-42G>T	LOC130060311, TTC19	Single nucleotide variant	not provided	GPathogenic
Select item 3329790	NM_017775.3(TTC19):c.-35T>A	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 137772	NM_017775.4(TTC19):c.-15G>A	LOC130060311, TTC19	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2 +2 more	GBenign
Select item 1302506	NM_017775.4(TTC19):c.-1C>G	LOC130060311, TTC19	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
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 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 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 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 1946918	NM_017775.4(TTC19):c.9G>T (p.Arg3=)	LOC130060311, TTC19	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
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 215299	NM_017775.4(TTC19):c.23G>C (p.Ser8Thr)	LOC130060311, TTC19 (S8T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 321940	NM_017775.4(TTC19):c.25C>T (p.Leu9=)	LOC130060311, TTC19	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 378796	NM_017775.4(TTC19):c.27G>C (p.Leu9=)	LOC130060311, TTC19	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign/Likely benign
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 1492273	NM_017775.4(TTC19):c.49G>A (p.Ala17Thr)	LOC130060311, TTC19 (A17T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1964790	NM_017775.4(TTC19):c.67G>A (p.Gly23Ser)	LOC130060311, TTC19 (G23S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	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 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 382625	NM_017775.4(TTC19):c.87C>T (p.Leu29=)	LOC130060311, TTC19	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1392567	NM_017775.4(TTC19):c.89C>T (p.Pro30Leu)	LOC130060311, TTC19 (P30L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	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 2008654	NM_017775.4(TTC19):c.100G>A (p.Gly34Arg)	LOC130060311, TTC19 (G34R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1059427	NM_017775.4(TTC19):c.112C>A (p.Pro38Thr)	LOC130060311, TTC19 (P38T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	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)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1713512	NM_017775.4(TTC19):c.123G>C (p.Gln41His)	LOC130060311, TTC19 (Q41H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	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 1529653	NM_017775.4(TTC19):c.144G>A (p.Ala48=)	LOC130060311, TTC19	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 321941	NM_017775.4(TTC19):c.146C>T (p.Pro49Leu)	LOC130060311, TTC19 (P49L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 512926	NM_017775.4(TTC19):c.147G>C (p.Pro49=)	LOC130060311, TTC19	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
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 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 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 1663795	NM_017775.4(TTC19):c.184+10_184+25del	LOC130060311, TTC19	Deletion (intron variant)	not provided	GLikely benign
Select item 508828	NM_017775.4(TTC19):c.184+6G>C	LOC130060311, TTC19	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2176340	NM_017775.4(TTC19):c.184+8G>T	LOC130060311, TTC19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 506556	NM_017775.4(TTC19):c.184+11C>G	LOC130060311, TTC19	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1170909	NM_017775.4(TTC19):c.184+25_184+38del	LOC130060311, TTC19	Deletion (intron variant)	not provided	GBenign
Select item 1969381	NM_017775.4(TTC19):c.184+16C>G	LOC130060311, TTC19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1955132	NM_017775.4(TTC19):c.184+17G>A	LOC130060311, TTC19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1910184	NM_017775.4(TTC19):c.184+20C>T	LOC130060311, TTC19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1303442	NM_017775.4(TTC19):c.185-5C>G	LOC130060311, TTC19	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 793528	NM_017775.4(TTC19):c.189C>G (p.Leu63=)	LOC130060311, TTC19	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2185439	NM_017775.4(TTC19):c.194G>C (p.Trp65Ser)	LOC130060311, TTC19 (W65S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 215300	NM_017775.4(TTC19):c.194G>A (p.Trp65Ter)	LOC130060311, TTC19 (W65*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
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 2039196	NM_017775.4(TTC19):c.226G>C (p.Glu76Gln)	LOC130060311, TTC19 (E76Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 379304	NM_017775.4(TTC19):c.229C>G (p.Gln77Glu)	LOC130060311, TTC19 (Q77E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 509206	NM_017775.4(TTC19):c.240C>G (p.Ala80=)	LOC130060311, TTC19	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GLikely benign
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 760743	NM_017775.4(TTC19):c.243C>T (p.Asp81=)	LOC130060311, TTC19	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign

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