PIBF1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2224904	NM_006346.4(PIBF1):c.8G>A (p.Arg3Gln)	PIBF1 (R3Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3212583	NM_006346.4(PIBF1):c.13A>G (p.Ile5Val)	PIBF1 (I5V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 776798	NM_006346.4(PIBF1):c.93G>A (p.Thr31=)	PIBF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2858865	NM_006346.4(PIBF1):c.102T>G (p.Ile34Met)	PIBF1 (I34M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1979240	NM_006346.4(PIBF1):c.118C>T (p.Arg40Ter)	PIBF1 (R40*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2242536	NM_006346.4(PIBF1):c.134G>C (p.Arg45Thr)	PIBF1 (R45T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2920180	NM_006346.4(PIBF1):c.157C>T (p.Arg53Ter)	PIBF1 (R53*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1942868	NM_006346.4(PIBF1):c.169C>T (p.Leu57Phe)	PIBF1 (L57F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2231502	NM_006346.4(PIBF1):c.212C>G (p.Thr71Ser)	PIBF1 (T71S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2329496	NM_006346.4(PIBF1):c.223G>A (p.Asp75Asn)	PIBF1 (D75N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2192976	NM_006346.4(PIBF1):c.238G>T (p.Asp80Tyr)	PIBF1 (D80Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1606865	NM_006346.4(PIBF1):c.253-16T>C	PIBF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2373172	NM_006346.4(PIBF1):c.283G>A (p.Ala95Thr)	PIBF1 (A95T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331545	NM_006346.4(PIBF1):c.331G>A (p.Ala111Thr)	PIBF1 (A111T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1990329	NM_006346.4(PIBF1):c.353+18dup	PIBF1	Duplication (intron variant)	not provided	GBenign
Select item 1530576	NM_006346.4(PIBF1):c.353+19A>T	PIBF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2894209	NM_006346.4(PIBF1):c.387A>G (p.Glu129=)	PIBF1	Single nucleotide variant (synonymous variant +1 more)	PIBF1-related disorder +1 more	GLikely benign
Select item 2410170	NM_006346.4(PIBF1):c.448G>A (p.Gly150Arg)	PIBF1 (G150R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2339173	NM_006346.4(PIBF1):c.457C>T (p.Arg153Cys)	PIBF1 (R153C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3057317	NM_006346.4(PIBF1):c.469C>T (p.Arg157Cys)	PIBF1 (R157C)	Single nucleotide variant (missense variant +1 more)	PIBF1-related disorder	GUncertain significance
Select item 3212586	NM_006346.4(PIBF1):c.476T>G (p.Phe159Cys)	PIBF1 (F159C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3306394	NM_006346.4(PIBF1):c.548T>C (p.Val183Ala)	PIBF1 (V183A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1951197	NM_006346.4(PIBF1):c.571G>A (p.Val191Met)	PIBF1 (V191M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3050749	NM_006346.4(PIBF1):c.579A>G (p.Pro193=)	PIBF1	Single nucleotide variant (synonymous variant +1 more)	PIBF1-related disorder	GLikely benign
Select item 3030532	NM_006346.4(PIBF1):c.585A>G (p.Arg195=)	PIBF1	Single nucleotide variant (synonymous variant +1 more)	PIBF1-related disorder	GLikely benign
Select item 1687224	NM_006346.4(PIBF1):c.597_598insAAGAAAGGAATCCATTAAGAAAG (p.Glu200delinsLysLysGlyIleHisTer)	PIBF1	Insertion (nonsense +1 more)	Joubert syndrome 33	GLikely pathogenic
Select item 1919220	NM_006346.4(PIBF1):c.603A>G (p.Leu201=)	PIBF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 738062	NM_006346.4(PIBF1):c.651C>T (p.Asn217=)	PIBF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2024994	NM_006346.4(PIBF1):c.672+20C>A	PIBF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1327012	NM_006346.4(PIBF1):c.672+38G>A	PIBF1	Single nucleotide variant (intron variant)	Joubert syndrome 33	GBenign
Select item 3212587	NM_006346.4(PIBF1):c.685G>A (p.Asp229Asn)	PIBF1 (D229N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2643843	NM_006346.4(PIBF1):c.714T>C (p.Ile238=)	PIBF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2361309	NM_006346.4(PIBF1):c.720T>G (p.Cys240Trp)	PIBF1 (C240W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 787678	NM_006346.4(PIBF1):c.723A>G (p.Gln241=)	PIBF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2174920	NM_006346.4(PIBF1):c.724C>T (p.Arg242Cys)	PIBF1 (R242C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1602139	NM_006346.4(PIBF1):c.788A>G (p.Asn263Ser)	PIBF1 (N263S)	Single nucleotide variant (missense variant +1 more)	PIBF1-related disorder +1 more	GBenign/Likely benign
Select item 3030435	NM_006346.4(PIBF1):c.802_803del (p.Lys268fs)	PIBF1 (K268fs)	Deletion (frameshift variant +1 more)	PIBF1-related disorder	GLikely pathogenic
Select item 2273380	NM_006346.4(PIBF1):c.805A>G (p.Ser269Gly)	PIBF1 (S269G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2508658	NM_006346.4(PIBF1):c.811C>T (p.Arg271Cys)	PIBF1 (R271C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1898740	NM_006346.4(PIBF1):c.812G>A (p.Arg271His)	PIBF1 (R271H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2313769	NM_006346.4(PIBF1):c.862C>A (p.Leu288Ile)	PIBF1 (L288I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2289130	NM_006346.4(PIBF1):c.877A>G (p.Met293Val)	PIBF1 (M293V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1598994	NM_006346.4(PIBF1):c.896G>A (p.Arg299Gln)	PIBF1 (R299Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3052925	NM_006346.4(PIBF1):c.930G>A (p.Glu310=)	PIBF1	Single nucleotide variant (synonymous variant +1 more)	PIBF1-related disorder	GLikely benign
Select item 2957776	NM_006346.4(PIBF1):c.954G>A (p.Lys318=)	PIBF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 766440	NM_006346.4(PIBF1):c.975C>G (p.Arg325=)	PIBF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3306395	NM_006346.4(PIBF1):c.1014G>C (p.Glu338Asp)	PIBF1 (E338D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2602509	NM_006346.4(PIBF1):c.1019G>A (p.Arg340His)	PIBF1 (R340H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3032430	NM_006346.4(PIBF1):c.1035A>G (p.Gln345=)	PIBF1	Single nucleotide variant (synonymous variant +1 more)	PIBF1-related disorder	GLikely benign
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 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 2208356	NM_006346.4(PIBF1):c.1141C>G (p.Leu381Val)	PIBF1 (L381V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1332798	NM_006346.4(PIBF1):c.1150_1151insCAGATTGAAAACCAACCAAGAAATTGATCAGCTTCG (p.Ile384delinsThrAspTer)	PIBF1	Insertion (nonsense +1 more)	Joubert syndrome 33	GLikely 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 430627	NM_006346.4(PIBF1):c.1151_1152insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA (p.Ile384delinsMetLeuArgArgLeuLysThrAsnGlnGluIleAspHis)	PIBF1	Insertion (inframe_indel +1 more)	Familial aplasia of the vermis	GUncertain significance
Select item 3212581	NM_006346.4(PIBF1):c.1173A>T (p.Glu391Asp)	PIBF1 (E391D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1907920	NM_006346.4(PIBF1):c.1180C>G (p.Gln394Glu)	PIBF1 (Q394E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2600977	NM_006346.4(PIBF1):c.1201G>A (p.Glu401Lys)	PIBF1 (E401K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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
Select item 1589652	NM_006346.4(PIBF1):c.1223+15dup	PIBF1	Duplication (intron variant)	not provided +1 more	GBenign
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 1562316	NM_006346.4(PIBF1):c.1223+15del	PIBF1	Deletion (intron variant)	not provided	GBenign
Select item 3052182	NM_006346.4(PIBF1):c.1224-6667G>A	PIBF1 (R418H)	Single nucleotide variant (missense variant +1 more)	PIBF1-related disorder	GLikely benign
Select item 3212582	NM_006346.4(PIBF1):c.1246A>G (p.Asn416Asp)	PIBF1 (N416D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2643844	NM_006346.4(PIBF1):c.1254G>A (p.Val418=)	PIBF1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1683876	NM_006346.4(PIBF1):c.1267C>G (p.Arg423Gly)	PIBF1 (R423G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2401186	NM_006346.4(PIBF1):c.1268G>A (p.Arg423Gln)	PIBF1 (R423Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2579371	NM_006346.4(PIBF1):c.1292C>G (p.Ala431Gly)	PIBF1 (A431G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1902783	NM_006346.4(PIBF1):c.1322+17T>C	PIBF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1403924	NM_006346.4(PIBF1):c.1323G>T (p.Arg441Ser)	PIBF1 (R441S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1605938	NM_006346.4(PIBF1):c.1365A>G (p.Glu455=)	PIBF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2377983	NM_006346.4(PIBF1):c.1406G>A (p.Arg469His)	PIBF1 (R498H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2370942	NM_006346.4(PIBF1):c.1408G>C (p.Val470Leu)	PIBF1 (V470L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1368765	NM_006346.4(PIBF1):c.1423G>A (p.Glu475Lys)	PIBF1 (E475K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1461364	NM_006346.4(PIBF1):c.1453C>A (p.Gln485Lys)	PIBF1 (Q514K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 2492701	NM_006346.4(PIBF1):c.1472A>G (p.Tyr491Cys)	PIBF1 (Y520C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3049813	NM_006346.4(PIBF1):c.1479A>G (p.Lys493=)	PIBF1	Single nucleotide variant (synonymous variant +1 more)	PIBF1-related disorder	GLikely benign
Select item 986201	NM_006346.4(PIBF1):c.1481A>G (p.Lys494Arg)	PIBF1 (K494R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 799420	NM_006346.4(PIBF1):c.1488+10C>G	PIBF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2211676	NM_006346.4(PIBF1):c.1534C>T (p.Arg512Cys)	PIBF1 (R541C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2261464	NM_006346.4(PIBF1):c.1535G>A (p.Arg512His)	PIBF1 (R512H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3030700	NM_006346.4(PIBF1):c.1554A>G (p.Ala518=)	PIBF1	Single nucleotide variant (synonymous variant +1 more)	PIBF1-related disorder	GLikely benign
Select item 1641754	NM_006346.4(PIBF1):c.1563A>G (p.Ser521=)	PIBF1	Single nucleotide variant (synonymous variant +1 more)	not provided	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 762935	NM_006346.4(PIBF1):c.1575A>G (p.Ala525=)	PIBF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2409730	NM_006346.4(PIBF1):c.1629A>C (p.Gln543His)	PIBF1 (Q572H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1614260	NM_006346.4(PIBF1):c.1656G>A (p.Glu552=)	PIBF1	Single nucleotide variant (synonymous variant +1 more)	not provided	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
Select item 2603678	NM_006346.4(PIBF1):c.1672T>C (p.Phe558Leu)	PIBF1 (F558L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 790855	NM_006346.4(PIBF1):c.1679A>G (p.Tyr560Cys)	PIBF1 (Y589C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 2886574	NM_006346.4(PIBF1):c.1680C>T (p.Tyr560=)	PIBF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3306396	NM_006346.4(PIBF1):c.1718G>A (p.Arg573Gln)	PIBF1 (R573Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2643845	NM_006346.4(PIBF1):c.1752G>C (p.Val584=)	PIBF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 716995	NM_006346.4(PIBF1):c.1776G>A (p.Ser592=)	PIBF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign

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