PCCA[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 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 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 152729	GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3	LOC124946344, LOC124946345 +706 more	Copy number gain	See cases	GPathogenic
Select item 149780	GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3	LOC130010101, LOC130010102 +705 more	Copy number gain	See cases	GPathogenic
Select item 57470	GRCh38/hg38 13q31.1-33.2(chr13:82032938-106082542)x3	LOC126861817, LOC126861818 +344 more	Copy number gain	See cases	GPathogenic
Select item 153403	GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3	ABCC4, ABHD13 +663 more	Copy number gain	See cases	GPathogenic
Select item 149290	GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1	ABCC4, ABHD13 +650 more	Copy number loss	See cases	GPathogenic
Select item 148008	GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3	ABCC4, ABHD13 +638 more	Copy number gain	See cases	GPathogenic
Select item 147510	GRCh38/hg38 13q31.3-33.3(chr13:93345058-109458154)x1	ABCC4, ABHD13 +348 more	Copy number loss	See cases	GPathogenic
Select item 150125	GRCh38/hg38 13q32.1-34(chr13:95744855-110863818)x3	LOC130010039, LOC130010040 +369 more	Copy number gain	See cases	GPathogenic
Select item 150277	GRCh38/hg38 13q32.1-34(chr13:96745059-114327106)x3	DOCK9-DT, EFNB2 +544 more	Copy number gain	See cases	GPathogenic
Select item 148962	GRCh38/hg38 13q32.1-33.3(chr13:97213871-109162916)x1	LOC124946325, LOC124946326 +271 more	Copy number loss	See cases	GPathogenic
Select item 144504	GRCh38/hg38 13q32.2-33.1(chr13:98008015-103697232)x3	BIVM, BIVM-ERCC5 +184 more	Copy number gain	See cases	GPathogenic
Select item 2579261	GRCh38/hg38 13q32.2-34(chr13:98343655-110990677)x1	ABHD13, ANKRD10 +342 more	Copy number loss	Holoprosencephaly 5	GPathogenic
Select item 57682	GRCh38/hg38 13q32.3-33.1(chr13:99034367-101217397)x1	CLYBL, CLYBL-AS1 +95 more	Copy number loss	See cases	GPathogenic
Select item 59921	GRCh38/hg38 13q32.3-34(chr13:99472316-114293545)x3	ABHD13, ADPRHL1 +421 more	Copy number gain	See cases	GPathogenic
Select item 59924	GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3	LOC132090158, LOC132090159 +395 more	Copy number gain	See cases	GPathogenic
Select item 1190369	NC_000013.11:g.100089052T>G	PCCA	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 310839	NM_000282.3(PCCA):c.-60C>T	PCCA	Single nucleotide variant	Propionic acidemia	GUncertain significance
Select item 310840	NM_000282.4(PCCA):c.-20G>A	PCCA	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 387987	NM_000282.4(PCCA):c.-14C>T	PCCA	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 310841	NM_000282.4(PCCA):c.-5C>T	PCCA	Single nucleotide variant (5 prime UTR variant +1 more)	Propionic acidemia	GUncertain significance
Select item 991687	NM_000282.4(PCCA):c.-4A>C	PCCA	Single nucleotide variant (5 prime UTR variant +1 more)	Propionic acidemia	GUncertain significance
Select item 2181890	NM_000282.4(PCCA):c.1A>G (p.Met1Val)	PCCA (M1V)	Single nucleotide variant (missense variant +3 more)	Propionic acidemia	GUncertain significance
Select item 551960	NM_000282.4(PCCA):c.2dup (p.Met1fs)	PCCA (M1fs)	Duplication (frameshift variant +3 more)	Propionic acidemia	GConflicting classifications of pathogenicity
Select item 638018	NM_000282.4(PCCA):c.2T>A (p.Met1Lys)	PCCA (M1K)	Single nucleotide variant (missense variant +3 more)	Propionic acidemia	GPathogenic
Select item 557232	NM_000282.4(PCCA):c.2T>C (p.Met1Thr)	PCCA (M1T)	Single nucleotide variant (missense variant +3 more)	not specified +1 more	GUncertain significance
Select item 2184254	NM_000282.4(PCCA):c.4G>C (p.Ala2Pro)	PCCA (A2P)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia +1 more	GUncertain significance
Select item 2184573	NM_000282.4(PCCA):c.6G>T (p.Ala2=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 1566422	NM_000282.4(PCCA):c.6G>A (p.Ala2=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 2732732	NM_000282.4(PCCA):c.9G>A (p.Gly3=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 795037	NM_000282.4(PCCA):c.9G>C (p.Gly3=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 1519347	NM_000282.4(PCCA):c.12C>G (p.Phe4Leu)	PCCA (F4L)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
Select item 1125974	NM_000282.4(PCCA):c.12C>T (p.Phe4=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 2963907	NM_000282.4(PCCA):c.16del (p.Val6fs)	PCCA (V6fs)	Deletion (frameshift variant +2 more)	Propionic acidemia	GPathogenic
Select item 558534	NM_000282.4(PCCA):c.15G>A (p.Trp5Ter)	PCCA (W5*)	Single nucleotide variant (nonsense +2 more)	Propionic acidemia	GUncertain significance
Select item 2296135	NM_000282.4(PCCA):c.17T>C (p.Val6Ala)	PCCA (V6A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1950705	NM_000282.4(PCCA):c.18C>G (p.Val6=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 1102071	NM_000282.4(PCCA):c.18C>T (p.Val6=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 2144670	NM_000282.4(PCCA):c.19G>C (p.Gly7Arg)	PCCA (G7R)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
Select item 659677	NM_000282.4(PCCA):c.24_46dup (p.Arg16fs)	PCCA (R16fs)	Duplication (frameshift variant +2 more)	Propionic acidemia	GPathogenic
Select item 635309	NM_000282.4(PCCA):c.21del (p.Thr8fs)	PCCA (T8fs)	Deletion (5 prime UTR variant +2 more)	Propionic acidemia	GLikely pathogenic
Select item 1994290	NM_000282.4(PCCA):c.20G>C (p.Gly7Ala)	PCCA (G7A)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
Select item 763592	NM_000282.4(PCCA):c.24A>T (p.Thr8=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 255736	NM_000282.4(PCCA):c.24A>G (p.Thr8=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia +2 more	GBenign/Likely benign
Select item 2839620	NM_000282.4(PCCA):c.27A>G (p.Ala9=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 1448803	NM_000282.4(PCCA):c.29C>T (p.Pro10Leu)	PCCA (P10L)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
Select item 1378780	NM_000282.4(PCCA):c.29C>A (p.Pro10Gln)	PCCA (P10Q)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
Select item 2871851	NM_000282.4(PCCA):c.30G>A (p.Pro10=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 2755920	NM_000282.4(PCCA):c.30G>C (p.Pro10=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 1589695	NM_000282.4(PCCA):c.30G>T (p.Pro10=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 2880235	NM_000282.4(PCCA):c.31C>T (p.Leu11=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 1944145	NM_000282.4(PCCA):c.32T>A (p.Leu11Gln)	PCCA (L11Q)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
Select item 1095934	NM_000282.4(PCCA):c.33G>A (p.Leu11=)	PCCA	Single nucleotide variant (non-coding transcript variant +2 more)	Propionic acidemia	GLikely benign
Select item 794384	NM_000282.4(PCCA):c.33G>T (p.Leu11=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 767075	NM_000282.4(PCCA):c.36C>T (p.Val12=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GBenign
Select item 813433	NM_000282.4(PCCA):c.39del (p.Ala14fs)	PCCA (A14fs)	Deletion (frameshift variant +2 more)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 1102142	NM_000282.4(PCCA):c.42C>G (p.Ala14=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 388157	NM_000282.4(PCCA):c.42C>T (p.Ala14=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia +1 more	GConflicting classifications of pathogenicity
Select item 638019	NM_000282.4(PCCA):c.43G>T (p.Gly15Ter)	PCCA (G15*)	Single nucleotide variant (nonsense +2 more)	Propionic acidemia	GPathogenic
Select item 1906427	NM_000282.4(PCCA):c.45A>G (p.Gly15=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 2854583	NM_000282.4(PCCA):c.49_53del (p.Arg17fs)	PCCA (R17fs)	Deletion (frameshift variant +2 more)	Propionic acidemia	GPathogenic
Select item 2135053	NM_000282.4(PCCA):c.48G>C (p.Arg16=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 1429468	NM_000282.4(PCCA):c.50G>A (p.Arg17His)	PCCA (R17H)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
Select item 1356660	NM_000282.4(PCCA):c.52G>C (p.Gly18Arg)	PCCA (G18R)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
Select item 763437	NM_000282.4(PCCA):c.54G>A (p.Gly18=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 1986469	NM_000282.4(PCCA):c.58T>A (p.Trp20Arg)	PCCA (W20R)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
Select item 1516828	NM_000282.4(PCCA):c.58T>C (p.Trp20Arg)	PCCA (W20R)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
Select item 1210778	NM_000282.4(PCCA):c.61C>T (p.Pro21Ser)	PCCA (P21S)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 1409003	NM_000282.4(PCCA):c.62C>T (p.Pro21Leu)	PCCA (P21L)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
Select item 1563526	NM_000282.4(PCCA):c.63G>A (p.Pro21=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 2148103	NM_000282.4(PCCA):c.64C>T (p.Pro22Ser)	PCCA (P22S)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
Select item 1401469	NM_000282.4(PCCA):c.65C>T (p.Pro22Leu)	PCCA (P22L)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
Select item 2900139	NM_000282.4(PCCA):c.66G>T (p.Pro22=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 2765499	NM_000282.4(PCCA):c.66G>C (p.Pro22=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 2164171	NM_000282.4(PCCA):c.66G>A (p.Pro22=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 1365855	NM_000282.4(PCCA):c.68A>C (p.Gln23Pro)	PCCA (Q23P)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
Select item 800098	NM_000282.4(PCCA):c.69G>A (p.Gln23=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 556623	NM_000282.4(PCCA):c.69_78del (p.Gln23fs)	PCCA (Q23fs)	Deletion (frameshift variant +2 more)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 1151710	NM_000282.4(PCCA):c.72G>A (p.Gln24=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 1902745	NM_000282.4(PCCA):c.73C>T (p.Leu25=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 1144995	NM_000282.4(PCCA):c.75G>T (p.Leu25=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 2089486	NM_000282.4(PCCA):c.77T>C (p.Met26Thr)	PCCA (M26T)	Single nucleotide variant (missense variant +2 more)	Propionic acidemia	GUncertain significance
Select item 1634012	NM_000282.4(PCCA):c.79C>T (p.Leu27=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 1575765	NM_000282.4(PCCA):c.81G>A (p.Leu27=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign
Select item 1965039	NM_000282.4(PCCA):c.85del (p.Ala29fs)	PCCA (A29fs)	Deletion (frameshift variant +2 more)	Propionic acidemia	GPathogenic
Select item 3014404	NM_000282.4(PCCA):c.87G>C (p.Ala29=)	PCCA	Single nucleotide variant (synonymous variant +2 more)	Propionic acidemia	GLikely benign

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