ClinVar for MedGen (Select 482271) - 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 1299253	NM_001002029.4(C4B):c.3676+1G>A	C4B	Single nucleotide variant (splice donor variant)	Complement component 4b deficiency	GLikely pathogenic
Select item 1034339	NM_001002029.3(C4B):c.3442G>A (p.Ala1148Thr)	C4B (A1148T)	Single nucleotide variant (missense variant)	Complement component 4b deficiency	GUncertain significance
Select item 987922	NM_001002029.3:c.(?_3231)_(3387_?)del	C4B	Deletion	Complement component 4b deficiency	GPathogenic

Format

Sort by

Choose Destination