"GeneDx"[submitter] AND "MYCL-AS1"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1304671	NM_017646.6(TRIT1):c.131G>C (p.Gly44Ala)	MYCL-AS1, TRIT1 (G44A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1195476	NM_017646.6(TRIT1):c.53G>T (p.Gly18Val)	MYCL-AS1, TRIT1 (G18V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 1800784	NM_017646.6(TRIT1):c.26C>G (p.Ala9Gly)	MYCL-AS1, TRIT1 (A9G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1308560	NM_017646.6(TRIT1):c.22C>G (p.Arg8Gly)	MYCL-AS1, TRIT1 (R8G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1221668	NC_000001.11:g.39883661G>A	MYCL-AS1, TRIT1	Single nucleotide variant	not provided	GBenign
Select item 1276471	NC_000001.11:g.39883676dup	MYCL-AS1, TRIT1	Duplication	not provided	GBenign
Select item 1281052	NC_000001.11:g.39883721G>A	MYCL-AS1, TRIT1	Single nucleotide variant	not provided	GBenign
Select item 1274712	NC_000001.11:g.39883738T>C	MYCL-AS1, TRIT1	Single nucleotide variant	not provided	GBenign
Select item 1289286	NC_000001.11:g.39883756G>A	MYCL-AS1, TRIT1	Single nucleotide variant	not provided	GBenign