ClinVar for MedGen (Select 1841058) - ClinVar

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

Format

Sort by

Choose Destination

Links from MedGen

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2431801	NM_001378156.1(C1QB):c.623G>A (p.Gly208Asp)	C1QB (G208D +1 more)	Single nucleotide variant (missense variant)	C1Q deficiency 2	GUncertain significance
Select item 440741	NM_001378156.1(C1QB):c.181+1G>T	C1QB	Single nucleotide variant (splice donor variant)	C1Q deficiency 2	GPathogenic
Select item 17072	NM_001378156.1(C1QB):c.523C>T (p.Arg175Ter)	C1QB (R175* +1 more)	Single nucleotide variant (nonsense)	C1Q deficiency 2	GPathogenic

Format

Sort by

Choose Destination