PIBF1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 147318	GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1	LOC130009942, LOC130009943 +733 more	Copy number loss	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	ALG11, ARL11 +729 more	Copy number gain	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009917, LOC130009918 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ARHGEF7-AS1, ARHGEF7-AS2 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57227	GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1	LOC130009879, LOC130009880 +657 more	Copy number loss	See cases	GPathogenic
Select item 545122	NC_000013.11:g.46968080_87381985del40413906	ACOD1, ALG11 +530 more	Deletion	Chromosome 13q14 deletion syndrome	GPathogenic
Select item 147464	GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1	OBI1-AS1, OLFM4 +513 more	Copy number loss	See cases	GPathogenic
Select item 145617	GRCh38/hg38 13q21.2-31.1(chr13:60536344-84553188)x1	ACOD1, ATXN8OS +258 more	Copy number loss	See cases	GPathogenic
Select item 152961	GRCh38/hg38 13q21.31-31.1(chr13:63713365-79638415)x1	ACOD1, ATXN8OS +202 more	Copy number loss	See cases	GPathogenic
Select item 150124	GRCh38/hg38 13q21.31-22.1(chr13:64065900-73693578)x3	ATXN8OS, BORA +70 more	Copy number gain	See cases	GPathogenic
Select item 145515	GRCh38/hg38 13q21.32-31.2(chr13:66320998-87855429)x1	ACOD1, ATXN8OS +232 more	Copy number loss	See cases	GPathogenic
Select item 149578	GRCh38/hg38 13q21.33-31.1(chr13:72681540-79638468)x1	ACOD1, BORA +141 more	Copy number loss	See cases	GPathogenic
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 (nonsense +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 726906	NM_006346.4(PIBF1):c.151A>G (p.Ile51Val)	DIS3, PIBF1 (I51V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
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 790854	NM_006346.4(PIBF1):c.218T>C (p.Met73Thr)	DIS3, PIBF1 (M73T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
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)	not provided	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)	not provided +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)	not provided +1 more	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)	not provided	GBenign
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 +1 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	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

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