C1865295[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 31639	NM_001377142.1(PLCB4):c.1898G>A (p.Arg633His)	PLCB4 (R621H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GPathogenic
Select item 339593	NM_001377142.1(PLCB4):c.3409-4del	PLCB4	Deletion (intron variant)	Auriculocondylar syndrome	GUncertain significance
Select item 339594	NM_001377142.1(PLCB4):c.3496-5_3496-2del	PLCB4	Deletion (splice acceptor variant +1 more)	Auriculocondylar syndrome	GUncertain significance
Select item 339603	NM_001377142.1(PLCB4):c.*469G>T	PLCB4	Single nucleotide variant (3 prime UTR variant)	Auriculocondylar syndrome	GUncertain significance
Select item 339604	NM_001377142.1(PLCB4):c.*563del	PLCB4	Deletion (3 prime UTR variant)	Auriculocondylar syndrome	GLikely benign
Select item 339615	NM_001377142.1(PLCB4):c.*1585dup	PLCB4	Duplication (3 prime UTR variant)	Auriculocondylar syndrome	GLikely benign
Select item 339616	NM_001377142.1(PLCB4):c.*1672del	PLCB4	Deletion (3 prime UTR variant)	Auriculocondylar syndrome	GUncertain significance

ClinVar