Related gene-specific medical variations for Gene (Select 10464) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063301	GRCh37/hg19 13q22.1(chr13:73464539-73500636)x1	PIBF1	Copy number loss	not specified	GUncertain significance
Select item 2574136	NM_006346.4(PIBF1):c.2050-8245_2223+758del	PIBF1	Deletion (splice acceptor variant +1 more)	Joubert syndrome 33	GUncertain significance
Select item 1324895	NM_006346.4(PIBF1):c.1213C>T (p.Arg405Ter)	PIBF1 (R405*)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome 33	GLikely pathogenic
Select item 979379	GRCh37/hg19 13q22.1(chr13:73411975-73573624)x1	PIBF1	Copy number loss	not provided	GUncertain significance
Select item 446200	NM_006346.4:c.(672+1_673-1)_(1322+1_1323-1)del	PIBF1	Deletion	Joubert syndrome 33	GPathogenic
Select item 393757	GRCh37/hg19 13q22.1(chr13:73434140-73505054)x1	PIBF1	Copy number loss	See cases	GLikely benign
Select item 217688	NM_006346.4(PIBF1):c.1669del (p.Leu557fs)	PIBF1 (L557fs +1 more)	Deletion (frameshift variant +1 more)	Familial aplasia of the vermis	GLikely pathogenic

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