ClinVar for MedGen (Select 482271) - ClinVar

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	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_001352000.1(LOC110384692):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

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