ClinVar for Gene (Select 84945) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3318923	NM_032859.3(ABHD13):c.896A>G (p.Asn299Ser)	ABHD13 (N299S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318826	NM_032859.3(ABHD13):c.151A>G (p.Ile51Val)	ABHD13 (I51V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3318741	NM_032859.3(ABHD13):c.874A>G (p.Ile292Val)	ABHD13 (I292V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318668	NM_032859.3(ABHD13):c.820G>T (p.Val274Leu)	ABHD13 (V274L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318565	NM_032859.3(ABHD13):c.850C>T (p.Pro284Ser)	ABHD13 (P284S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318477	NM_032859.3(ABHD13):c.46A>G (p.Ile16Val)	ABHD13 (I16V)	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 3130403	NM_032859.3(ABHD13):c.960G>C (p.Lys320Asn)	ABHD13 (K320N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130399	NM_032859.3(ABHD13):c.95C>T (p.Pro32Leu)	ABHD13 (P32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130396	NM_032859.3(ABHD13):c.955G>A (p.Val319Ile)	ABHD13 (V319I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3130392	NM_032859.3(ABHD13):c.701C>T (p.Pro234Leu)	ABHD13 (P234L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130372	NM_032859.3(ABHD13):c.335C>G (p.Pro112Arg)	ABHD13 (P112R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130370	NM_032859.3(ABHD13):c.334C>T (p.Pro112Ser)	ABHD13 (P112S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130362	NM_032859.3(ABHD13):c.293G>A (p.Arg98His)	ABHD13 (R98H)	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 3063307	GRCh37/hg19 13q33.1-34(chr13:102421732-115107733)x1	ABHD13, ADPRHL1 +54 more	Copy number loss	not specified	GPathogenic
Select item 3063302	GRCh37/hg19 13q33.2-34(chr13:106430837-114763645)x3	ABHD13, ADPRHL1 +39 more	Copy number gain	not specified	GUncertain significance
Select item 3063300	GRCh37/hg19 13q33.1-34(chr13:103149209-115107733)x1	ABHD13, ADPRHL1 +53 more	Copy number loss	not specified	GPathogenic
Select item 3063296	GRCh37/hg19 13q33.1-33.3(chr13:103694735-109007552)x1	ABHD13, ARGLU1 +7 more	Copy number loss	not specified	GUncertain significance
Select item 3063294	GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	not specified	GPathogenic
Select item 3063291	GRCh37/hg19 13q33.2-34(chr13:105761074-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063290	GRCh37/hg19 13q33.1-34(chr13:104389334-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063287	GRCh37/hg19 13q33.2-34(chr13:106591678-115107733)x1	ABHD13, ADPRHL1 +42 more	Copy number loss	not specified	GPathogenic
Select item 3063276	GRCh37/hg19 13q33.3(chr13:107440465-109161884)x1	ABHD13, LIG4 +2 more	Copy number loss	not specified	GPathogenic
Select item 2685475	GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1	ANKRD10, ANKRD10-IT1 +98 more	Copy number loss	not provided	GPathogenic
Select item 2684705	GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	GPR18, GRTP1 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	TBC1D4, TEX29 +129 more	Copy number gain	not provided	GPathogenic
Select item 2601007	NM_032859.3(ABHD13):c.926C>G (p.Thr309Ser)	ABHD13 (T309S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579261	GRCh38/hg38 13q32.2-34(chr13:98343655-110990677)x1	ABHD13, ANKRD10 +342 more	Copy number loss	Holoprosencephaly 5	GPathogenic
Select item 2579202	GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1	LOC130010165, LOC130010166 +312 more	Copy number loss	Chromosome 13q33-q34 deletion syndrome	GPathogenic
Select item 2559814	NM_032859.3(ABHD13):c.526G>A (p.Val176Met)	ABHD13 (V176M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486581	NM_032859.3(ABHD13):c.496T>C (p.Tyr166His)	ABHD13 (Y166H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392842	NM_032859.3(ABHD13):c.31G>A (p.Val11Ile)	ABHD13 (V11I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353584	NM_032859.3(ABHD13):c.323G>A (p.Gly108Glu)	ABHD13 (G108E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299668	NM_032859.3(ABHD13):c.343C>G (p.Pro115Ala)	ABHD13 (P115A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268313	NM_032859.3(ABHD13):c.239T>C (p.Met80Thr)	ABHD13 (M80T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245894	NM_032859.3(ABHD13):c.349A>G (p.Ile117Val)	ABHD13 (I117V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241476	NM_032859.3(ABHD13):c.947A>G (p.Lys316Arg)	ABHD13 (K316R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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	B3GLCT, HS6ST3 +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)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527799	GRCh37/hg19 13q33.3(chr13:108035809-110195659)	TNFSF13B, ABHD13 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1527798	GRCh37/hg19 13q33.2-34(chr13:106450862-115107733)	ABHD13, ADPRHL1 +42 more	Copy number loss	not specified	GPathogenic
Select item 1527797	GRCh37/hg19 13q33.2-34(chr13:106056749-115107733)	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 1527796	GRCh37/hg19 13q33.1-34(chr13:104545892-115107733)	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
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)	ABCC4, ABHD13 +96 more	Copy number loss	not specified	GPathogenic
Select item 1527787	GRCh37/hg19 13q31.1-34(chr13:85037147-115107733)	ABCC4, ABHD13 +97 more	Copy number gain	not specified	GPathogenic
Select item 1527786	GRCh37/hg19 13q31.1-34(chr13:79370012-115107733)	DCUN1D2, ERCC5 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527785	GRCh37/hg19 13q22.3-34(chr13:78514567-115107733)	MIR18A, MIR19A +104 more	Copy number gain	not specified	GPathogenic
Select item 1527777	GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)	ACOD1, ADPRHL1 +129 more	Copy number gain	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	VPS36, VWA8 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	DACH1, IRS2 +332 more	Copy number gain	See cases	GPathogenic
Select item 1077192	Single allele	ITGBL1, LIG4 +58 more	Deletion	Distal monosomy 13q	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 981484	Single allele	ABHD13, ADPRHL1 +55 more	Deletion	not provided	GPathogenic
Select item 979994	GRCh37/hg19 13q33.2-34(chr13:106256198-115107733)x1	DCUN1D2, TMEM255B +42 more	Copy number loss	not provided	GPathogenic
Select item 815625	GRCh37/hg19 13q33.3(chr13:108558863-109455377)x3	MYO16, LIG4 +2 more	Copy number gain	not provided	GUncertain significance
Select item 815620	GRCh37/hg19 13q33.1-33.3(chr13:104521177-109327788)x1	ARGLU1, ABHD13 +7 more	Copy number loss	not provided	GPathogenic
Select item 815614	GRCh37/hg19 13q32.1-34(chr13:96895656-115107733)x1	ABHD13, ADPRHL1 +76 more	Copy number loss	not provided	GPathogenic
Select item 815590	GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1	CDC16, NALCN +142 more	Copy number loss	not provided	GPathogenic
Select item 688676	GRCh37/hg19 13q33.3-34(chr13:108139800-111231833)x3	ABHD13, COL4A1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
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 684505	Single allele	ABHD13, ADPRHL1 +40 more	Deletion	not provided	Gnot provided
Select item 625813	GRCh37/hg19 13q33.1-34(chr13:101881803-115091330)	ABHD13, ADPRHL1 +56 more	Copy number gain	not provided	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 564078	GRCh37/hg19 13q33.2-34(chr13:105389857-113467489)x1	ARGLU1, COL4A1 +24 more	Copy number loss	not provided	GPathogenic
Select item 564077	GRCh37/hg19 13q33.3-34(chr13:108083664-115107733)x1	CUL4A, GRTP1 +40 more	Copy number loss	not provided	GPathogenic
Select item 564076	GRCh37/hg19 13q33.3-34(chr13:108567578-115107733)x3	PCID2, TUBGCP3 +39 more	Copy number gain	not provided	GPathogenic
Select item 564065	GRCh37/hg19 13q33.3(chr13:108035809-110197673)x3	NALF1, ABHD13 +3 more	Copy number gain	not provided	GUncertain significance
Select item 443213	GRCh37/hg19 13q31.1-34(chr13:83435292-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	See cases	GPathogenic
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 442311	GRCh37/hg19 13q31.1-34(chr13:85176519-115107733)x3	TGDS, TM9SF2 +97 more	Copy number gain	See cases	GPathogenic
Select item 442271	GRCh37/hg19 13q33.1-34(chr13:103170306-115107733)x1	ABHD13, ADPRHL1 +53 more	Copy number loss	See cases	GPathogenic
Select item 442100	GRCh37/hg19 13q33.1-34(chr13:103880953-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	See cases	GPathogenic
Select item 441797	GRCh37/hg19 13q31.1-34(chr13:80058840-115107733)x3	ABCC4, ABHD13 +100 more	Copy number gain	See cases	GPathogenic
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	FGF9, FLT1 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 441662	GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4	ABCC4, ABHD13 +125 more	Copy number gain	See cases	GPathogenic
Select item 395478	GRCh37/hg19 13q14.3-33.3(chr13:53551300-109850651)x1	MIR4500HG, MIR92A1 +102 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 394870	GRCh37/hg19 13q33.2-33.3(chr13:105620486-108955885)x1	ABHD13, ARGLU1 +6 more	Copy number loss	See cases	GPathogenic
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	CRYL1, CSNK1A1L +332 more	Copy number gain	See cases	GPathogenic
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	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic
Select item 161056	GRCh38/hg38 13q33.3-34(chr13:107918132-114327173)x1	ABHD13, ADPRHL1 +286 more	Copy number loss	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 155489	GRCh38/hg38 13q33.2-34(chr13:105423935-114342258)x3	ABHD13, ADPRHL1 +325 more	Copy number gain	See cases	GUncertain significance

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