"Revvity Omics, Revvity"[submitter] AND "TMLHE"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690241	NM_018196.4(TMLHE):c.706A>T (p.Lys236Ter)	TMLHE (K236*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 372796	NM_018196.4(TMLHE):c.359-2A>G	TMLHE	Single nucleotide variant (splice acceptor variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1297623	NM_018196.4(TMLHE):c.230G>A (p.Arg77Gln)	TMLHE (R77Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

Format

Sort by

Choose Destination