"3billion"[submitter] AND "TRAPPC2L"[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 528320	NM_000512.5(GALNS):c.107T>G (p.Leu36Arg)	GALNS, LOC130059762 +1 more (L36R)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-A	GLikely pathogenic
Select item 803285	NM_013275.6(ANKRD11):c.7822C>T (p.Arg2608Trp)	ANKRD11, TRAPPC2L (R2608W)	Single nucleotide variant (missense variant)	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis +1 more	GConflicting classifications of pathogenicity