C1853892[trait identifier] AND "OMIM"[submitter] - 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 4742	NM_013391.3(DMGDH):c.326A>G (p.His109Arg)	DMGDH (H109R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 432171	NM_013391.3(DMGDH):c.101+2T>C	DMGDH	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic