Related gene-specific medical variations for Gene (Select 54902) - ClinVar

Links from Gene

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3463213	NM_017775.4(TTC19):c.14T>A (p.Leu5Gln)	LOC130060311, TTC19 (L5Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3403580	NM_006311.4(NCOR1):c.7258T>A (p.Trp2420Arg)	NCOR1, TTC19 (W2317R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3393129	NM_017775.4(TTC19):c.93dup (p.Leu32fs)	LOC130060311, TTC19 (L32fs)	Duplication (5 prime UTR variant +1 more)	Mitochondrial complex III deficiency nuclear type 2	GLikely pathogenic
Select item 3350035	NM_006311.4(NCOR1):c.6798_6800del (p.Ile2267del)	NCOR1, TTC19 (I2164del +1 more)	Deletion (inframe_deletion)	NCOR1-related disorder	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 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 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 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 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 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 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 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 2573001	NM_017775.4(TTC19):c.451C>T (p.Gln151Ter)	TTC19 (Q151* +1 more)	Single nucleotide variant (nonsense)	Mitochondrial disease	GPathogenic
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 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 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 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 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 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 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 2176340	NM_017775.4(TTC19):c.184+8G>T	LOC130060311, TTC19	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 1969381	NM_017775.4(TTC19):c.184+16C>G	LOC130060311, TTC19	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1955132	NM_017775.4(TTC19):c.184+17G>A	LOC130060311, TTC19	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1910184	NM_017775.4(TTC19):c.184+20C>T	LOC130060311, TTC19	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1663795	NM_017775.4(TTC19):c.184+10_184+25del	LOC130060311, TTC19	Deletion (intron variant)	not provided	GLikely benign
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 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 1427864	NM_017775.4(TTC19):c.244G>C (p.Gly82Arg)	LOC130060311, TTC19 (G82R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
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 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 1303442	NM_017775.4(TTC19):c.185-5C>G	LOC130060311, TTC19	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 1231738	NM_017775.4(TTC19):c.831+99T>G	LOC129390841, TTC19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221939	NM_017775.4(TTC19):c.831+115G>C	LOC129390841, TTC19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191366	NM_017775.4(TTC19):c.831+117C>A	TTC19, LOC129390841	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1170909	NM_017775.4(TTC19):c.184+25_184+38del	LOC130060311, TTC19	Deletion (intron variant)	not provided	GBenign
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 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 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 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
Select item 735033	NM_006311.4(NCOR1):c.7104G>A (p.Gly2368=)	NCOR1, TTC19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 726341	NM_006311.4(NCOR1):c.7074A>G (p.Ser2358=)	TTC19, NCOR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 722211	NM_006311.4(NCOR1):c.6870G>A (p.Met2290Ile)	NCOR1, TTC19 (M2290I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 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 508828	NM_017775.4(TTC19):c.184+6G>C	LOC130060311, TTC19	Single nucleotide variant (intron variant)	not specified	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 488973	NM_017775.4(TTC19):c.1A>G (p.Met1Val)	LOC130060311, TTC19 (M1V)	Single nucleotide variant (5 prime UTR variant +2 more)	Mitochondrial complex III deficiency nuclear type 2 +2 more	GConflicting classifications of pathogenicity
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 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 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 321985	NM_017775.3(TTC19):c.*1886T>C	NCOR1, TTC19	Single nucleotide variant (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 1	GUncertain significance
Select item 321984	NM_017775.4(TTC19):c.*1791T>C	NCOR1, TTC19	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	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 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 321959	NM_017775.4(TTC19):c.*670dup	TTC19, LOC130060312	Duplication (3 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 1	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)	Mitochondrial complex III deficiency nuclear type 2 +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)	not provided +1 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)	not provided +1 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 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 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 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	LOC130060311, TTC19	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex III deficiency nuclear type 2 +2 more	GBenign
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

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Items: 86