ClinVar for MedGen (Select 1615779) - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338618	NM_006346.4(PIBF1):c.2076_2100del (p.Val693fs)	PIBF1 (V693fs +1 more)	Deletion (frameshift variant +1 more)	Joubert syndrome 33	GLikely pathogenic
Select item 2691411	NM_006346.4(PIBF1):c.1731-1G>A	PIBF1	Single nucleotide variant (splice acceptor variant)	Joubert syndrome 33	GLikely pathogenic
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 2412732	NM_006346.4(PIBF1):c.1056_1068del (p.Lys353fs)	PIBF1 (K353fs)	Deletion (frameshift variant +1 more)	Joubert syndrome 33	GLikely pathogenic
Select item 2399309	NM_006346.4(PIBF1):c.1124A>G (p.Asn375Ser)	PIBF1 (N375S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2362254	NM_006346.4(PIBF1):c.1931C>T (p.Thr644Met)	PIBF1 (T673M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1687224	NM_006346.4(PIBF1):c.597_598insAAGAAAGGAATCCATTAAGAAAG (p.Glu200delinsLysLysGlyIleHisTer)	PIBF1	Insertion (nonsense +1 more)	Joubert syndrome 33	GLikely pathogenic
Select item 1589652	NM_006346.4(PIBF1):c.1223+15dup	PIBF1	Duplication (intron variant)	not provided +1 more	GBenign
Select item 1572001	NM_006346.4(PIBF1):c.1888A>G (p.Ile630Val)	PIBF1 (I630V +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 33 +1 more	GConflicting classifications of pathogenicity
Select item 1570235	NM_006346.4(PIBF1):c.1965-4dup	PIBF1	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1532801	NM_006346.4(PIBF1):c.1223+14_1223+15dup	PIBF1	Duplication (intron variant)	Joubert syndrome 33 +1 more	GBenign/Likely benign
Select item 1332798	NM_006346.4(PIBF1):c.1150_1151insCAGATTGAAAACCAACCAAGAAATTGATCAGCTTCG (p.Ile384delinsThrAspTer)	PIBF1	Insertion (nonsense +1 more)	Joubert syndrome 33	GLikely pathogenic
Select item 1327012	NM_006346.4(PIBF1):c.672+38G>A	PIBF1	Single nucleotide variant (intron variant)	Joubert syndrome 33	GBenign
Select item 1327011	NM_006346.4(PIBF1):c.499A>G (p.Ile167Val)	PIBF1 (I167V)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 33 +1 more	GBenign
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 1032433	NM_006346.4(PIBF1):c.2113C>A (p.Leu705Ile)	PIBF1 (L734I +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 33	GUncertain significance
Select item 996096	NM_006346.4(PIBF1):c.1971_1973delinsT (p.Leu657fs)	PIBF1 (L657fs +1 more)	Indel (frameshift variant +1 more)	Joubert syndrome 33 +1 more	GPathogenic/Likely pathogenic
Select item 981932	NM_006346.4(PIBF1):c.1181_1182insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA (p.Arg385_Arg396dup)	PIBF1	Insertion (inframe_insertion +1 more)	Joubert syndrome 33	GPathogenic
Select item 807653	NM_006346.4(PIBF1):c.1801C>T (p.Arg601Ter)	PIBF1 (R601* +1 more)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome 33	GPathogenic
Select item 807652	NM_006346.4(PIBF1):c.1133A>C (p.His378Pro)	PIBF1 (H378P)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 33 +1 more	GConflicting classifications of pathogenicity
Select item 789327	NM_006346.4(PIBF1):c.2138A>C (p.His713Pro)	PIBF1 (H713P +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 33 +1 more	GLikely benign
Select item 774487	NM_006346.4(PIBF1):c.1567C>A (p.His523Asn)	PIBF1 (H552N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 770994	NM_006346.4(PIBF1):c.1793T>G (p.Leu598Arg)	PIBF1 (L598R +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 33 +1 more	GConflicting classifications of pathogenicity
Select item 632607	NM_006346.4(PIBF1):c.1918A>T (p.Ile640Phe)	PIBF1 (I640F +1 more)	Single nucleotide variant (missense variant +1 more)	Dandy-Walker syndrome +2 more	GPathogenic/Likely pathogenic
Select item 599034	NM_006346.4(PIBF1):c.1453C>T (p.Gln485Ter)	PIBF1 (Q485* +1 more)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome 33	GPathogenic
Select item 598934	NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys)	PIBF1 (Y503C +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 33	GLikely pathogenic
Select item 446200	NM_006346.4:c.(672+1_673-1)_(1322+1_1323-1)del	PIBF1	Deletion	Joubert syndrome 33	GPathogenic
Select item 446198	NM_006346.4(PIBF1):c.1910A>C (p.Asp637Ala)	PIBF1 (D637A +1 more)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 33	GPathogenic
Select item 217689	NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln)	PIBF1 (R405Q)	Single nucleotide variant (missense variant +1 more)	Joubert syndrome 33 +2 more	GConflicting classifications of pathogenicity

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Items: 29