"Invitae"[submitter] AND "TRIT1"[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3006625	NM_017646.6(TRIT1):c.1285T>C (p.Leu429=)	TRIT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1913379	NM_017646.6(TRIT1):c.1234+12G>A	TRIT1	Single nucleotide variant (intron variant)	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 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 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 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 2890607	NM_017646.6(TRIT1):c.1023C>T (p.Val341=)	TRIT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2788100	NM_017646.6(TRIT1):c.1007-6_1007-4del	TRIT1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1991164	NM_017646.6(TRIT1):c.1007-20C>T	TRIT1	Single nucleotide variant (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)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1899694	NM_017646.6(TRIT1):c.929-4T>C	TRIT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 735897	NM_017646.6(TRIT1):c.633T>C (p.Gly211=)	TRIT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2141117	NM_017646.6(TRIT1):c.591C>T (p.Ile197=)	TRIT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 1990359	NM_017646.6(TRIT1):c.415-13C>T	TRIT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1327207	NM_017646.6(TRIT1):c.334C>T (p.Arg112Ter)	TRIT1 (R112*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2072703	NM_017646.6(TRIT1):c.316-5T>C	TRIT1	Single nucleotide variant (intron 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
Select item 1029628	NM_017646.6(TRIT1):c.289G>A (p.Asp97Asn)	TRIT1 (D97N)	Single nucleotide variant (missense variant +2 more)	Combined oxidative phosphorylation deficiency 35 +1 more	GConflicting classifications of pathogenicity
Select item 1049688	NM_017646.6(TRIT1):c.236G>C (p.Arg79Pro)	TRIT1 (R79P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1991419	NM_017646.6(TRIT1):c.174+18G>T	MYCL-AS1, TRIT1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1642032	NM_017646.6(TRIT1):c.141C>T (p.Leu47=)	MYCL-AS1, TRIT1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1195476	NM_017646.6(TRIT1):c.53G>T (p.Gly18Val)	MYCL-AS1, TRIT1 (G18V)	Single nucleotide variant (missense variant +1 more)	TRIT1-related condition +1 more	GBenign/Likely benign
Select item 1342274	NM_017646.6(TRIT1):c.33C>T (p.Pro11=)	MYCL-AS1, TRIT1	Single nucleotide variant (synonymous variant +1 more)	Combined oxidative phosphorylation deficiency 35 +1 more	GBenign
Select item 2960528	NM_017646.6(TRIT1):c.27A>G (p.Ala9=)	MYCL-AS1, TRIT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 417684	NM_017646.6(TRIT1):c.22C>T (p.Arg8Ter)	MYCL-AS1, TRIT1 (R8*)	Single nucleotide variant (nonsense +1 more)	Combined oxidative phosphorylation deficiency 35 +2 more	GPathogenic/Likely pathogenic
Select item 1365813	NM_017646.6(TRIT1):c.16G>A (p.Ala6Thr)	MYCL-AS1, TRIT1 (A6T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2426335	NC_000001.10:g.(?_40322929)_(40323109_?)del	TRIT1	Deletion	not provided	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	CLSPN, COL8A2 +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance

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Items: 48