"GeneDx"[submitter] AND "TRMT10C"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 671432	NM_017819.4(TRMT10C):c.167C>G (p.Pro56Arg)	TRMT10C (P56R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1316844	NM_017819.4(TRMT10C):c.414G>A (p.Thr138=)	TRMT10C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 377049	NM_017819.4(TRMT10C):c.492G>C (p.Lys164Asn)	TRMT10C (K164N)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 724394	NM_017819.4(TRMT10C):c.1122A>G (p.Gln374=)	TRMT10C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1251426	NM_017819.4(TRMT10C):c.*103T>C	TRMT10C	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

ClinVar