ABHD18[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	LOC129993132, LOC129993133 +420 more	Copy number loss	See cases	GPathogenic
Select item 155140	GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1	ABHD18, ADAD1 +254 more	Copy number loss	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 145990	GRCh38/hg38 4q28.1-28.3(chr4:125118620-132773079)x1	ABHD18, C4orf33 +113 more	Copy number loss	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148326	GRCh38/hg38 4q28.1-28.2(chr4:127371061-127994046)x1	ABHD18, HSPA4L +22 more	Copy number loss	See cases	GUncertain significance
Select item 60198	GRCh38/hg38 4q28.1-28.2(chr4:127788856-128114180)x1	ABHD18, HSPA4L +15 more	Copy number loss	See cases	GUncertain significance
Select item 151694	GRCh38/hg38 4q28.2(chr4:127937074-128141489)x3	ABHD18, LARP1B +9 more	Copy number gain	See cases	GUncertain significance
Select item 2579190	GRCh38/hg38 4q28.2(chr4:127949707-127984521)x0	ABHD18, LOC129993055 +4 more	Copy number loss	Neuronal ceroid lipofuscinosis 7	GPathogenic
Select item 2579280	GRCh38/hg38 4q28.2(chr4:127964562-127965767)x0	ABHD18, LOC129993058 +1 more	Copy number loss	Neuronal ceroid lipofuscinosis 7	GUncertain significance
Select item 1260288	NM_152778.4(MFSD8):c.-75-215A>G	ABHD18, MFSD8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1216033	NM_152778.4(MFSD8):c.-75-266A>G	ABHD18, MFSD8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 671191	NM_152778.4(MFSD8):c.-75-333C>G	ABHD18, MFSD8	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 514836	NM_152778.4(MFSD8):c.-76G>A	ABHD18, MFSD8	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 347546	NM_152778.4(MFSD8):c.-100G>C	ABHD18, MFSD8	Single nucleotide variant (5 prime UTR variant +1 more)	Neuronal ceroid lipofuscinosis 7 +1 more	GBenign
Select item 2492983	NM_001358451.3(ABHD18):c.31C>T (p.Arg11Trp)	ABHD18 (R11W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294235	NM_001358451.3(ABHD18):c.157T>A (p.Tyr53Asn)	ABHD18 (Y53N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3321815	NM_001358451.3(ABHD18):c.179T>C (p.Ile60Thr)	ABHD18 (I60T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3130896	NM_001358451.3(ABHD18):c.361T>A (p.Tyr121Asn)	ABHD18 (Y136N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605357	NM_001358451.3(ABHD18):c.374G>A (p.Arg125Gln)	ABHD18 (R140Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212837	NM_001358451.3(ABHD18):c.389G>A (p.Arg130His)	ABHD18 (R3H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130904	NM_001358451.3(ABHD18):c.407C>A (p.Ala136Asp)	ABHD18 (A136D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412408	NM_001358451.3(ABHD18):c.496G>A (p.Asp166Asn)	ABHD18 (D84N +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3130914	NM_001358451.3(ABHD18):c.509T>C (p.Met170Thr)	ABHD18 (M170T +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2326323	NM_001358451.3(ABHD18):c.541C>G (p.Leu181Val)	ABHD18 (L196V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364672	NM_001358451.3(ABHD18):c.560G>A (p.Arg187Lys)	ABHD18 (R105K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269336	NM_001358451.3(ABHD18):c.611T>G (p.Met204Arg)	ABHD18 (M77R +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253303	NM_001358451.3(ABHD18):c.611T>C (p.Met204Thr)	ABHD18 (M122T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599834	NM_001358451.3(ABHD18):c.697A>G (p.Thr233Ala)	ABHD18 (T151A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130929	NM_001358451.3(ABHD18):c.829T>A (p.Phe277Ile)	ABHD18 (F116I +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321906	NM_001358451.3(ABHD18):c.875A>G (p.Asn292Ser)	ABHD18 (N210S +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283522	NM_001358451.3(ABHD18):c.932C>T (p.Pro311Leu)	ABHD18, LOC132089026 (P108L +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130939	NM_001358451.3(ABHD18):c.1037C>T (p.Thr346Ile)	ABHD18, LOC132089026 (T185I +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130885	NM_001358451.3(ABHD18):c.1114C>T (p.Arg372Trp)	ABHD18 (R169W +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655095	NM_001358451.3(ABHD18):c.1221A>G (p.Lys407=)	ABHD18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	GPathogenic
Select item 2429312	NC_000004.11:g.(128878748_128886226)_(128887140_?)del	ABHD18, MFSD8	Deletion	Neuronal ceroid lipofuscinosis	GLikely pathogenic
Select item 1527124	GRCh37/hg19 4q28.2(chr4:128852056-128927701)	ABHD18, MFSD8	Copy number loss	not specified	GUncertain significance
Select item 1527119	GRCh37/hg19 4q26-28.2(chr4:116888785-129649979)	ABHD18, ADAD1 +40 more	Copy number loss	not specified	GPathogenic
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1341171	GRCh37/hg19 4q28.2(chr4:128852425-129087108)x3	ABHD18, LARP1B +1 more	Copy number gain	not provided	GUncertain significance
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1328453	GRCh37/hg19 4q26-28.3(chr4:114872547-138005267)x1	TNIP3, TRPC3 +48 more	Copy number loss	not provided	GPathogenic
Select item 1069575	NC_000004.11:g.(?_128544537)_(129131208_?)del	LARP1B, INTU +5 more	Deletion	Neuronal ceroid lipofuscinosis 7	GPathogenic
Select item 1047888	GRCh37/hg19 4q26-28.2(chr4:116833638-130232122)	MAD2L1, METTL14 +43 more	Copy number loss	Delayed speech and language development +1 more	GPathogenic
Select item 1007966	NC_000004.11:g.(?_128804417)_(129131208_?)dup	ABHD18, LARP1B +2 more	Duplication	not provided	GUncertain significance
Select item 980137	GRCh37/hg19 4q28.2(chr4:128937051-129150590)x3	LARP1B, ABHD18	Copy number gain	not provided	GUncertain significance
Select item 814608	GRCh37/hg19 4q28.2-28.3(chr4:128898820-132769588)x1	SCLT1, PGRMC2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 562967	GRCh37/hg19 4q28.2(chr4:128850788-129087108)x3	MFSD8, LARP1B +1 more	Copy number gain	not provided	GUncertain significance
Select item 562959	GRCh37/hg19 4q26-28.2(chr4:116307857-129302960)x1	ABHD18, ADAD1 +40 more	Copy number loss	not provided	GPathogenic
Select item 560144	Single allele	ABHD18, C4orf33 +24 more	Deletion	not provided	GPathogenic
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic

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Items: 63