TRIT1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LOC129929733, LOC129929734 +1145 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 59934	GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1	AKIRIN1, BMP8A +268 more	Copy number loss	See cases	GPathogenic
Select item 58072	GRCh38/hg38 1p34.3-34.2(chr1:39360747-40900817)x3	BMP8A, BMP8B +129 more	Copy number gain	See cases	GPathogenic
Select item 2184711	NM_017646.6(TRIT1):c.1398C>T (p.Ser466=)	TRIT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2327066	NM_017646.6(TRIT1):c.1310T>C (p.Ile437Thr)	TRIT1 (I355T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3182954	NM_017646.6(TRIT1):c.1301T>G (p.Val434Gly)	TRIT1 (V434G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1701103	NM_017646.6(TRIT1):c.1290C>T (p.Asp430=)	TRIT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3006625	NM_017646.6(TRIT1):c.1285T>C (p.Leu429=)	TRIT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 417680	NM_017646.6(TRIT1):c.1256A>C (p.His419Pro)	TRIT1 (H419P +2 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 35	GUncertain significance
Select item 2051052	NM_017646.6(TRIT1):c.1236G>A (p.Ala412=)	TRIT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2161959	NM_017646.6(TRIT1):c.1235C>T (p.Ala412Val)	TRIT1 (A330V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2585517	NM_017646.6(TRIT1):c.1235-2A>G	TRIT1	Single nucleotide variant (splice acceptor variant)	Combined oxidative phosphorylation deficiency 35	GLikely pathogenic
Select item 1186361	NM_017646.6(TRIT1):c.1235-195A>C	TRIT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1913379	NM_017646.6(TRIT1):c.1234+12G>A	TRIT1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2437334	NM_017646.6(TRIT1):c.1232C>T (p.Ala411Val)	TRIT1 (A329V +2 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 35	GUncertain significance
Select item 2499359	NM_017646.6(TRIT1):c.1231G>T (p.Ala411Ser)	TRIT1 (A329S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1201174	NM_017646.6(TRIT1):c.1225G>A (p.Glu409Lys)	TRIT1 (E327K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3030335	NM_017646.6(TRIT1):c.1224C>T (p.Arg408=)	TRIT1	Single nucleotide variant (synonymous variant +1 more)	TRIT1-related disorder	GLikely benign
Select item 2149610	NM_017646.6(TRIT1):c.1223G>A (p.Arg408His)	TRIT1 (R382H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1315357	NM_017646.6(TRIT1):c.1209CAT[1] (p.Ile405del)	TRIT1 (I323del +2 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1033850	NM_017646.6(TRIT1):c.1214T>C (p.Ile405Thr)	TRIT1 (I323T +2 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 35	GUncertain significance
Select item 417682	NM_017646.6(TRIT1):c.1204C>T (p.Arg402Ter)	TRIT1 (R402* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2692355	NM_017646.6(TRIT1):c.1171_1172del (p.Lys391fs)	TRIT1 (K309fs +2 more)	Deletion (non-coding transcript variant +1 more)	Combined oxidative phosphorylation deficiency 35	GPathogenic
Select item 3182953	NM_017646.6(TRIT1):c.1145A>G (p.Lys382Arg)	TRIT1 (K356R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2409605	NM_017646.6(TRIT1):c.1138C>T (p.Pro380Ser)	TRIT1 (P298S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2992163	NM_017646.6(TRIT1):c.1116+15_1116+16dup	TRIT1	Duplication (intron variant)	not provided	GLikely benign
Select item 2716455	NM_017646.6(TRIT1):c.1116+8T>C	TRIT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2413435	NM_017646.6(TRIT1):c.1116+3A>G	TRIT1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3182952	NM_017646.6(TRIT1):c.1099G>A (p.Val367Met)	TRIT1 (V285M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1566977	NM_017646.6(TRIT1):c.1098C>T (p.Ile366=)	TRIT1	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation deficiency 35 +1 more	GBenign
Select item 1679848	NM_017646.6(TRIT1):c.1034A>G (p.Tyr345Cys)	TRIT1 (Y263C +2 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 35	GUncertain significance
Select item 1700786	NM_017646.6(TRIT1):c.1029del (p.Val344fs)	TRIT1 (V262fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2231092	NM_017646.6(TRIT1):c.1027C>T (p.Pro343Ser)	TRIT1 (P317S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2890607	NM_017646.6(TRIT1):c.1023C>T (p.Val341=)	TRIT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2630416	NM_017646.6(TRIT1):c.1018del (p.Ile340fs)	TRIT1 (I258fs +2 more)	Deletion (frameshift variant +1 more)	TRIT1-related disorder	GLikely pathogenic
Select item 2788100	NM_017646.6(TRIT1):c.1007-6_1007-4del	TRIT1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1704195	NM_017646.6(TRIT1):c.1007-4T>G	TRIT1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1991164	NM_017646.6(TRIT1):c.1007-20C>T	TRIT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203458	NM_017646.6(TRIT1):c.1007-233G>T	TRIT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207522	NM_017646.6(TRIT1):c.1006+291G>C	TRIT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1282542	NM_017646.6(TRIT1):c.1006+176dup	TRIT1	Duplication (intron variant)	not provided	GBenign
Select item 1229175	NM_017646.6(TRIT1):c.1006+189del	TRIT1	Deletion (intron variant)	not provided	GBenign
Select item 2068677	NM_017646.6(TRIT1):c.1006+10A>G	TRIT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2717264	NM_017646.6(TRIT1):c.995G>A (p.Arg332His)	TRIT1 (R250H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 432133	NM_017646.6(TRIT1):c.979C>T (p.Arg327Ter)	TRIT1 (R327* +1 more)	Single nucleotide variant (nonsense +2 more)	TRIT1-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 492943	NM_017646.6(TRIT1):c.968G>A (p.Arg323Gln)	TRIT1 (R323Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GPathogenic
Select item 1686274	NM_017646.6(TRIT1):c.967C>T (p.Arg323Trp)	TRIT1 (R241W +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2325045	NM_017646.6(TRIT1):c.958A>G (p.Arg320Gly)	TRIT1 (R320G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1899694	NM_017646.6(TRIT1):c.929-4T>C	TRIT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2692358	NM_017646.6(TRIT1):c.882del (p.Glu295fs)	TRIT1 (E213fs +1 more)	Deletion (frameshift variant +1 more)	Combined oxidative phosphorylation deficiency 35	GPathogenic
Select item 2627613	NM_017646.6(TRIT1):c.865C>T (p.His289Tyr)	TRIT1 (H207Y +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 35	GUncertain significance
Select item 417683	NM_017646.6(TRIT1):c.856A>G (p.Lys286Glu)	TRIT1 (K286E +1 more)	Single nucleotide variant (missense variant +1 more)	Combined oxidative phosphorylation deficiency 35	GUncertain significance
Select item 417681	NM_017646.6(TRIT1):c.848T>G (p.Ile283Ser)	TRIT1 (I283S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Combined oxidative phosphorylation deficiency 35 +1 more	GConflicting classifications of pathogenicity
Select item 1683955	NM_017646.6(TRIT1):c.847A>G (p.Ile283Val)	TRIT1 (I201V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1686729	NM_017646.6(TRIT1):c.833G>A (p.Gly278Asp)	TRIT1 (G196D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1961310	NM_017646.6(TRIT1):c.815+19T>C	TRIT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995714	NM_017646.6(TRIT1):c.815+15G>A	TRIT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3182958	NM_017646.6(TRIT1):c.784C>T (p.Arg262Cys)	TRIT1 (R262C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1300308	NM_017646.6(TRIT1):c.716G>A (p.Arg239His)	TRIT1 (R157H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1700766	NM_017646.6(TRIT1):c.715C>T (p.Arg239Cys)	TRIT1 (R157C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 673191	NM_017646.6(TRIT1):c.704-271AT[3]	TRIT1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1226712	NM_017646.6(TRIT1):c.703+258A>G	TRIT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 735897	NM_017646.6(TRIT1):c.633T>C (p.Gly211=)	TRIT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1683954	NM_017646.6(TRIT1):c.632G>A (p.Gly211Asp)	TRIT1 (G131D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 774796	NM_017646.6(TRIT1):c.623C>T (p.Thr208Met)	TRIT1 (T208M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 1607094	NM_017646.6(TRIT1):c.614G>T (p.Arg205Leu)	TRIT1 (R125L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1621094	NM_017646.6(TRIT1):c.606T>A (p.Phe202Leu)	TRIT1 (F202L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2444589	NM_017646.6(TRIT1):c.596A>G (p.His199Arg)	TRIT1 (H119R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1707797	NM_017646.6(TRIT1):c.596A>C (p.His199Pro)	TRIT1 (H119P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2141117	NM_017646.6(TRIT1):c.591C>T (p.Ile197=)	TRIT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3182957	NM_017646.6(TRIT1):c.584C>G (p.Thr195Arg)	TRIT1 (T115R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1300160	NM_017646.6(TRIT1):c.568C>T (p.Gln190Ter)	TRIT1 (Q110* +1 more)	Single nucleotide variant (nonsense +1 more)	Combined oxidative phosphorylation deficiency 35	GPathogenic
Select item 1240653	NM_017646.6(TRIT1):c.561-222G>A	TRIT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2870107	NM_017646.6(TRIT1):c.560+15C>T	TRIT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1386015	NM_017646.6(TRIT1):c.548G>A (p.Arg183His)	TRIT1 (R183H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1485691	NM_017646.6(TRIT1):c.547C>T (p.Arg183Cys)	TRIT1 (R103C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2405142	NM_017646.6(TRIT1):c.539A>G (p.His180Arg)	TRIT1 (H100R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2269583	NM_017646.6(TRIT1):c.518T>C (p.Met173Thr)	TRIT1 (M173T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3182955	NM_017646.6(TRIT1):c.493C>T (p.Arg165Cys)	TRIT1 (R165C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1381982	NM_017646.6(TRIT1):c.481G>T (p.Val161Leu)	TRIT1 (V161L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2150502	NM_017646.6(TRIT1):c.448C>T (p.Arg150Ter)	TRIT1 (R150* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2988648	NM_017646.6(TRIT1):c.435G>A (p.Glu145=)	TRIT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2405212	NM_017646.6(TRIT1):c.418del (p.Gln140fs)	TRIT1 (Q140fs +1 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 1687363	NM_017646.6(TRIT1):c.415-4A>G	TRIT1	Single nucleotide variant (intron variant)	Combined oxidative phosphorylation deficiency 35	GUncertain significance
Select item 1990359	NM_017646.6(TRIT1):c.415-13C>T	TRIT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674169	NM_017646.6(TRIT1):c.415-319T>C	TRIT1	Single nucleotide variant	not provided	GLikely benign
Select item 684263	NM_017646.6(TRIT1):c.414+267G>A	TRIT1	Single nucleotide variant	not provided	GBenign
Select item 684262	NM_017646.6(TRIT1):c.414+263A>G	TRIT1	Single nucleotide variant	not provided	GBenign
Select item 2963841	NM_017646.6(TRIT1):c.414+18G>A	TRIT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988649	NM_017646.6(TRIT1):c.414+10G>C	TRIT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3040616	NM_017646.6(TRIT1):c.408T>C (p.Asn136=)	TRIT1	Single nucleotide variant (synonymous variant +2 more)	TRIT1-related disorder	GLikely benign
Select item 2208939	NM_017646.6(TRIT1):c.368A>G (p.Asn123Ser)	TRIT1 (N123S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1327207	NM_017646.6(TRIT1):c.334C>T (p.Arg112Ter)	TRIT1 (R112*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 545453	NM_017646.6(TRIT1):c.334del (p.Arg112fs)	TRIT1 (R112fs)	Deletion (frameshift variant +2 more)	TRIT1 Deficiency +3 more	GPathogenic/Likely pathogenic
Select item 545454	NM_017646.6(TRIT1):c.326T>C (p.Ile109Thr)	TRIT1 (I109T)	Single nucleotide variant (missense variant +2 more)	Macrocephaly +2 more	GConflicting classifications of pathogenicity
Select item 2444593	NM_017646.6(TRIT1):c.325A>G (p.Ile109Val)	TRIT1 (I109V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2072703	NM_017646.6(TRIT1):c.316-5T>C	TRIT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673317	NM_017646.6(TRIT1):c.316-294A>G	TRIT1	Single nucleotide variant	not provided	GLikely benign
Select item 1966688	NM_017646.6(TRIT1):c.310G>T (p.Ala104Ser)	TRIT1 (A104S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance

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