"OMIM"[submitter] AND "LOC129936434"[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 936	NM_000404.4(GLB1):c.75+2dup	GLB1, LOC129936434 +1 more	Duplication (5 prime UTR variant +1 more)	GM1 gangliosidosis +4 more	GPathogenic
Select item 1077168	NM_000404.4(GLB1):c.75+2T>G	GLB1, LOC129936434 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-IV-B	GPathogenic