ClinVar for Gene (Select 87769) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281298	NM_001195087.2(GGACT):c.100G>A (p.Gly34Ser)	GGACT (G34S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242333	GRCh37/hg19 13q32.3-34(chr13:99892724-115108414)x3	ABHD13, ADPRHL1 +66 more	Copy number gain	not provided	GPathogenic
Select item 3148881	GRCh37/hg19 13q32.2-33.3(chr13:98773859-109277603)x1	ABHD13, ARGLU1 +34 more	Copy number loss	not provided	GPathogenic
Select item 3099587	NM_001195087.2(GGACT):c.59T>A (p.Leu20Gln)	GGACT (L20Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099586	NM_001195087.2(GGACT):c.379G>A (p.Glu127Lys)	GGACT (E127K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099585	NM_001195087.2(GGACT):c.374C>T (p.Pro125Leu)	GGACT (P125L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099584	NM_001195087.2(GGACT):c.334A>G (p.Thr112Ala)	GGACT (T112A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099583	NM_001195087.2(GGACT):c.22G>A (p.Gly8Ser)	GGACT (G8S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063309	GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1	ABCC4, ABHD13 +97 more	Copy number loss	not specified	GPathogenic
Select item 3063294	GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	not specified	GPathogenic
Select item 3063280	GRCh37/hg19 13q21.31-33.1(chr13:64825656-103641349)x1	ABCC4, ACOD1 +81 more	Copy number loss	not specified	GPathogenic
Select item 2685478	GRCh37/hg19 13q31.2-33.2(chr13:89012420-106371634)x1	SLC15A1, SOX21 +50 more	Copy number loss	not provided	GPathogenic
Select item 2685475	GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1	ABCC4, ABHD13 +98 more	Copy number loss	not provided	GPathogenic
Select item 2685473	GRCh37/hg19 13q21.33-33.1(chr13:73132193-104595598)x1	ABCC4, ACOD1 +78 more	Copy number loss	not provided	GPathogenic
Select item 2684705	GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	ABCC4, ABHD13 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	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 2485225	NM_001195087.2(GGACT):c.134C>T (p.Ala45Val)	GGACT (A45V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471896	NM_001195087.2(GGACT):c.137G>A (p.Gly46Glu)	GGACT (G46E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2446726	GRCh37/hg19 13q32.1-33.2(chr13:95700999-105271065)x3	DZIP1, ERCC5 +35 more	Copy number gain	See cases	GPathogenic
Select item 2425688	NC_000013.10:g.(?_99336978)_(102379160_?)del	ITGBL1, NALCN +13 more	Deletion	Holoprosencephaly 5	GPathogenic
Select item 2422808	NC_000013.10:g.(?_101077867)_(101182420_?)dup	GGACT, PCCA	Duplication	Propionic acidemia	GUncertain significance
Select item 2422806	NC_000013.10:g.(?_100038233)_(103718599_?)dup	POGLUT2, SLC10A2 +18 more	Duplication	not provided	GUncertain significance
Select item 2422797	NC_000013.10:g.(?_100741375)_(101182420_?)del	GGACT, PCCA	Deletion	Propionic acidemia	GPathogenic
Select item 1809298	GRCh37/hg19 13q32.3-34(chr13:99421603-115107733)x3	ABHD13, ADPRHL1 +67 more	Copy number gain	not provided	GPathogenic
Select item 1808983	GRCh37/hg19 13q32.1-34(chr13:97142120-115107733)x1	ABHD13, ADPRHL1 +76 more	Copy number loss	not provided	GPathogenic
Select item 1808473	GRCh37/hg19 13q32.3-34(chr13:100334135-110383902)x1	ABHD13, ARGLU1 +25 more	Copy number loss	not provided	GPathogenic
Select item 1808276	GRCh37/hg19 13q31.3-33.2(chr13:93535335-105788229)x1	BIVM-ERCC5, CCDC168 +40 more	Copy number loss	not provided	GPathogenic
Select item 1807731	GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3	ABCC4, ABHD13 +116 more	Copy number gain	not provided	GPathogenic
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	CCDC169-SOHLH2, CCDC70 +332 more	Copy number gain	not provided	GPathogenic
Select item 1707439	GRCh37/hg19 13q31.2-34(chr13:89490345-115062235)x3	ABCC4, ABHD13 +93 more	Copy number gain	See cases	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	PCID2, PCOTH +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527793	GRCh37/hg19 13q32.3(chr13:101167705-101265053)	GGACT, PCCA +1 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527791	GRCh37/hg19 13q32.3-34(chr13:100258328-115107733)	ABHD13, ADPRHL1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1527788	GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)	EFNB2, ERCC5 +96 more	Copy number loss	not specified	GPathogenic
Select item 1527787	GRCh37/hg19 13q31.1-34(chr13:85037147-115107733)	DCUN1D2, DNAJC3 +97 more	Copy number gain	not specified	GPathogenic
Select item 1527786	GRCh37/hg19 13q31.1-34(chr13:79370012-115107733)	F10, F7 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527785	GRCh37/hg19 13q22.3-34(chr13:78514567-115107733)	ITGBL1, LAMP1 +104 more	Copy number gain	not specified	GPathogenic
Select item 1527777	GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)	ABCC4, ABHD13 +129 more	Copy number gain	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, DNAJC15 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	ZMYM5, SPATA13 +329 more	Copy number gain	not specified	GPathogenic
Select item 1459911	NC_000013.10:g.(?_101179909)_(101182420_?)del	GGACT, PCCA	Deletion	Propionic acidemia	GPathogenic
Select item 1454834	NC_000013.10:g.(?_101167671)_(101182701_?)del	GGACT, PCCA	Deletion	Propionic acidemia	GPathogenic
Select item 1341277	GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3	DCT, DGKH +175 more	Copy number gain	not provided	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ARGLU1, FBXL3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	MRPL57, MRPS31 +332 more	Copy number gain	See cases	GPathogenic
Select item 1275753	NC_000013.10:g.99162946_101376965del	CLYBL, DOCK9 +11 more	Deletion	Lobar holoprosencephaly	GPathogenic
Select item 1178639	NM_001195087.2(GGACT):c.*1668TTCA[1]	GGACT, PCCA	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1077192	Single allele	ITGBL1, LIG4 +58 more	Deletion	Distal monosomy 13q	GPathogenic
Select item 1074668	NC_000013.10:g.(?_92002837)_(103343314_?)del	ABCC4, CLDN10 +41 more	Deletion	Holoprosencephaly 5	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	DGKH, DHRS12 +332 more	Copy number gain	See cases	GPathogenic
Select item 1041203	NC_000013.10:g.(?_101077867)_(101182440_?)dup	GGACT, PCCA	Duplication	Propionic acidemia	GUncertain significance
Select item 884190	NM_001195087.2(GGACT):c.*1873T>C	GGACT, PCCA	Single nucleotide variant (3 prime UTR variant +1 more)	Propionic acidemia	GUncertain significance
Select item 884189	NM_001195087.2(GGACT):c.*1930T>G	GGACT, PCCA	Single nucleotide variant (3 prime UTR variant +1 more)	Propionic acidemia	GUncertain significance
Select item 880903	NM_001195087.2(GGACT):c.*1741A>C	GGACT, PCCA	Single nucleotide variant (3 prime UTR variant +1 more)	Propionic acidemia	GUncertain significance
Select item 831847	NC_000013.11:g.(?_100527655)_(100530186_?)del	GGACT, PCCA	Deletion	Propionic acidemia	GPathogenic
Select item 815617	GRCh37/hg19 13q32.3(chr13:101167705-101275126)x1	PCCA, GGACT +1 more	Copy number loss	not provided	GUncertain significance
Select item 815614	GRCh37/hg19 13q32.1-34(chr13:96895656-115107733)x1	ABHD13, ADPRHL1 +76 more	Copy number loss	not provided	GPathogenic
Select item 815612	GRCh37/hg19 13q32.1-33.2(chr13:96240346-106103782)x1	BIVM, BIVM-ERCC5 +33 more	Copy number loss	not provided	GPathogenic
Select item 815590	GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1	ABCC4, ABHD13 +142 more	Copy number loss	not provided	GPathogenic
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 688277	GRCh37/hg19 13q32.3(chr13:101112100-101651091)x3	GGACT, PCCA +1 more	Copy number gain	not provided	GUncertain significance
Select item 687326	GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 687002	GRCh37/hg19 13q31.3-34(chr13:94849303-115107733)x3	ABCC4, ABHD13 +86 more	Copy number gain	not provided	GUncertain significance
Select item 657918	NC_000013.11:g.(?_100527665)_(100530447_?)del	GGACT, PCCA	Deletion	Propionic acidemia	GPathogenic
Select item 564082	GRCh37/hg19 13q22.3-34(chr13:78590089-115107733)x3	ABCC4, ABHD13 +103 more	Copy number gain	not provided	GPathogenic
Select item 564081	GRCh37/hg19 13q31.3-33.3(chr13:94703767-109731879)x1	ABCC4, ABHD13 +49 more	Copy number loss	not provided	GPathogenic
Select item 443855	GRCh37/hg19 13q32.3-33.1(chr13:100016737-101862895)x1	CLYBL, GGACT +7 more	Copy number loss	See cases	GPathogenic
Select item 443213	GRCh37/hg19 13q31.1-34(chr13:83435292-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	See cases	GPathogenic
Select item 443022	GRCh37/hg19 13q32.2-33.1(chr13:98607855-104370539)x3	BIVM, BIVM-ERCC5 +26 more	Copy number gain	See cases	GLikely pathogenic
Select item 442938	GRCh37/hg19 13q32.1-34(chr13:96586481-115107733)x1	ABHD13, ADPRHL1 +77 more	Copy number loss	See cases	GPathogenic
Select item 442796	GRCh37/hg19 13q21.1-34(chr13:56431743-115107733)	ABCC4, ABHD13 +137 more	Copy number gain	See cases	GPathogenic
Select item 442647	GRCh37/hg19 13q31.3-34(chr13:94474530-115107733)x1	ABCC4, ABHD13 +86 more	Copy number loss	See cases	GPathogenic
Select item 442644	GRCh37/hg19 13q32.1-33.1(chr13:98158452-101950563)x3	RNF113B, SLC15A1 +15 more	Copy number gain	See cases	GLikely pathogenic
Select item 442311	GRCh37/hg19 13q31.1-34(chr13:85176519-115107733)x3	ABCC4, ABHD13 +97 more	Copy number gain	See cases	GPathogenic
Select item 441797	GRCh37/hg19 13q31.1-34(chr13:80058840-115107733)x3	DNAJC3, DOCK9 +100 more	Copy number gain	See cases	GPathogenic
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	HTR2A, IFT88 +332 more	Copy number gain	See cases	GPathogenic
Select item 441737	GRCh37/hg19 13q31.1-33.3(chr13:80572498-108719528)x1	ABCC4, ARGLU1 +58 more	Copy number loss	See cases	GPathogenic
Select item 441662	GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4	CDC16, COMMD6 +125 more	Copy number gain	See cases	GPathogenic
Select item 395478	GRCh37/hg19 13q14.3-33.3(chr13:53551300-109850651)x1	ABCC4, ABHD13 +102 more	Copy number loss	See cases	GPathogenic
Select item 395197	GRCh37/hg19 13q31.1-33.1(chr13:81851091-102864674)x1	ABCC4, CLDN10 +43 more	Copy number loss	See cases	GPathogenic
Select item 395156	GRCh37/hg19 13q31.1-34(chr13:82221361-115092569)x3	ABCC4, ABHD13 +98 more	Copy number gain	See cases	GPathogenic
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 310858	NM_001195087.2(GGACT):c.*1774G>A	GGACT, PCCA	Single nucleotide variant (3 prime UTR variant +1 more)	Propionic acidemia	GUncertain significance
Select item 310857	NM_001195087.2(GGACT):c.*1774G>C	GGACT, PCCA	Single nucleotide variant (3 prime UTR variant +1 more)	Propionic acidemia	GUncertain significance
Select item 310856	NM_001195087.2(GGACT):c.*1805A>C	GGACT, PCCA	Single nucleotide variant (non-coding transcript variant +1 more)	Propionic acidemia	GLikely benign
Select item 310855	NM_001195087.2(GGACT):c.*1811dup	GGACT, PCCA	Duplication (3 prime UTR variant +1 more)	Propionic acidemia +1 more	GBenign/Likely benign
Select item 310854	NM_001195087.2(GGACT):c.*1848C>T	GGACT, PCCA	Single nucleotide variant (3 prime UTR variant +1 more)	Propionic acidemia	GUncertain significance
Select item 310853	NM_001195087.2(GGACT):c.*1849G>A	GGACT, PCCA	Single nucleotide variant (3 prime UTR variant +1 more)	Propionic acidemia	GLikely benign
Select item 310852	NM_001195087.2(GGACT):c.1904_1907del	GGACT, PCCA	Deletion (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 253491	GRCh37/hg19 13q31.2-34(chr13:89796110-115083342)x1	ABCC4, ABHD13 +94 more	Copy number loss	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LINC00333, LINC00343 +2045 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC121838573, LOC121838574 +2028 more	Copy number gain	See cases	GPathogenic
Select item 153403	GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3	LOC132090867, MBNL2 +663 more	Copy number gain	See cases	GPathogenic
Select item 152729	GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3	ABCC4, ABHD13 +706 more	Copy number gain	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130010147, LOC130010148 +2049 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

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