ClinVar for Gene (Select 83451) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3317229	NM_148912.4(ABHD11):c.791C>G (p.Pro264Arg)	ABHD11 (P257R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3317128	NM_148912.4(ABHD11):c.648G>C (p.Glu216Asp)	ABHD11 (E209D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3317023	NM_148912.4(ABHD11):c.894A>G (p.Ile298Met)	ABHD11 (I241M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3316918	NM_148912.4(ABHD11):c.878G>A (p.Arg293His)	ABHD11 (R236H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3252027	NC_000007.14:g.(?_73303398)_(74735532_?)del	ABHD11, ABHD11-AS1 +130 more	Deletion	Williams syndrome	GLikely pathogenic
Select item 3236844	GRCh38/hg38 7q11.23(chr7:73247356-74727974)x3	ABHD11, ABHD11-AS1 +130 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 3148885	GRCh37/hg19 7q11.23(chr7:72701099-74186150)x3	ABHD11, ABHD11-AS1 +25 more	Copy number gain	not provided	GPathogenic
Select item 3130214	NM_148912.4(ABHD11):c.842C>T (p.Thr281Met)	ABHD11 (T224M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3130196	NM_148912.4(ABHD11):c.619C>T (p.Arg207Trp)	ABHD11 (R103W +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3130164	NM_148912.4(ABHD11):c.379G>A (p.Val127Ile)	ABHD11 (V23I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130158	NM_148912.4(ABHD11):c.356C>T (p.Pro119Leu)	ABHD11 (P119L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130154	NM_148912.4(ABHD11):c.242C>T (p.Ala81Val)	ABHD11 (A81V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130153	NM_148912.4(ABHD11):c.214A>G (p.Asn72Asp)	ABHD11 (N65D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130143	NM_148912.4(ABHD11):c.76C>T (p.Pro26Ser)	ABHD11 (P26S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062986	GRCh37/hg19 7q11.21-11.23(chr7:66776724-74629034)x3	ABHD11, ABHD11-AS1 +35 more	Copy number gain	not specified	GPathogenic
Select item 3062971	GRCh37/hg19 7q11.23(chr7:72732819-76003862)x3	ABHD11, ABHD11-AS1 +43 more	Copy number gain	not specified	GPathogenic
Select item 2685248	GRCh37/hg19 7q11.23(chr7:73142034-73690195)x1	CLDN3, ABHD11-AS1 +10 more	Copy number loss	not provided	GPathogenic
Select item 2684488	GRCh37/hg19 7q11.23(chr7:72547476-74263704)x3	NCF1, NSUN5 +27 more	Copy number gain	not provided	GPathogenic
Select item 2616650	NM_148912.4(ABHD11):c.427C>G (p.Leu143Val)	ABHD11 (L136V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610371	NM_148912.4(ABHD11):c.201C>A (p.Phe67Leu)	ABHD11 (F67L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600633	NM_148912.4(ABHD11):c.647A>G (p.Glu216Gly)	ABHD11 (E112G +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2575239	GRCh37/hg19 7q11.23(chr7:72718277-74142256)	ABHD11, ABHD11-AS1 +25 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 2574694	GRCh37/hg19 7q11.23(chr7:72664461-74162586)	ABHD11, ABHD11-AS1 +25 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 2574138	NC_000007.14:g.73304277_74727414del	ABHD11, ABHD11-AS1 +129 more	Deletion	Williams syndrome	GPathogenic
Select item 2532526	NM_148912.4(ABHD11):c.902T>C (p.Ile301Thr)	ABHD11 (I197T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2509015	NM_148912.4(ABHD11):c.286C>G (p.His96Asp)	ABHD11 (H89D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508624	NM_148912.4(ABHD11):c.563G>A (p.Arg188His)	ABHD11 (R181H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2506562	GRCh37/hg19 7q11.23(chr7:72717395-74173168)	BAZ1B, CLDN4 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 2505469	Single allele	ABHD11, ABHD11-AS1 +132 more	Deletion	Williams syndrome	GPathogenic
Select item 2499666	GRCh38/hg38 7q11.23(chr7:73229597-74727852)	ABHD11, ABHD11-AS1 +131 more	Copy number loss	Williams syndrome	GPathogenic
Select item 2483334	NM_148912.4(ABHD11):c.620G>A (p.Arg207Gln)	ABHD11 (R103Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2467092	NM_148912.4(ABHD11):c.401G>A (p.Gly134Glu)	ABHD11 (G127E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408350	NM_148912.4(ABHD11):c.451C>T (p.Arg151Cys)	ABHD11 (R151C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2315188	NM_148912.4(ABHD11):c.432G>C (p.Gln144His)	ABHD11 (Q144H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304102	NM_148912.4(ABHD11):c.385G>A (p.Val129Ile)	ABHD11 (V25I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2298870	NM_148912.4(ABHD11):c.269C>G (p.Thr90Arg)	ABHD11 (T83R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296397	NM_148912.4(ABHD11):c.50C>G (p.Pro17Arg)	ABHD11 (P17R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289891	NM_148912.4(ABHD11):c.146G>A (p.Arg49Lys)	ABHD11 (R49K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2285846	NM_148912.4(ABHD11):c.158G>T (p.Gly53Val)	ABHD11 (G53V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273795	NM_148912.4(ABHD11):c.457A>G (p.Ile153Val)	ABHD11 (I153V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2258171	NM_148912.4(ABHD11):c.563G>T (p.Arg188Leu)	ABHD11 (R84L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2248633	NM_148912.4(ABHD11):c.635C>T (p.Thr212Ile)	ABHD11 (T155I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2247158	NM_148912.4(ABHD11):c.815G>A (p.Arg272Gln)	ABHD11 (R215Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2208542	NM_148912.4(ABHD11):c.616G>A (p.Val206Met)	ABHD11 (V149M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1808834	GRCh37/hg19 7q11.23(chr7:72718278-74143060)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	not provided	GPathogenic
Select item 1808638	GRCh37/hg19 7q11.23(chr7:72718278-74143240)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	not provided	GPathogenic
Select item 1807825	GRCh37/hg19 7q11.23(chr7:72654782-74142190)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	not provided	GPathogenic
Select item 1807812	GRCh37/hg19 7q11.23(chr7:72643632-74143060)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	not provided	GPathogenic
Select item 1807742	GRCh37/hg19 7q11.23(chr7:72718278-74142256)x1	ABHD11-AS1, BAZ1B +25 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1706524	GRCh37/hg19 7q11.23(chr7:72718277-74142190)x1	BAZ1B, BUD23 +25 more	Copy number loss	See cases	GPathogenic
Select item 1703677	GRCh37/hg19 7q11.23(chr7:72686958-74155067)	ABHD11, ABHD11-AS1 +25 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 1703596	GRCh37/hg19 7q11.23(chr7:72700127-74142190)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703595	GRCh37/hg19 7q11.23(chr7:72701084-74142190)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703594	GRCh37/hg19 7q11.23(chr7:72700942-74142190)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703593	GRCh37/hg19 7q11.23(chr7:72700996-74142256)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703592	GRCh37/hg19 7q11.23(chr7:72921550-74145628)	ABHD11, ABHD11-AS1 +21 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703591	GRCh37/hg19 7q11.23(chr7:72718123-74141784)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703590	GRCh37/hg19 7q11.23(chr7:72645013-74142190)	BAZ1B, BCL7B +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703588	GRCh37/hg19 7q11.23(chr7:72589515-74629034)	ABHD11, ABHD11-AS1 +29 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703587	GRCh37/hg19 7q11.23(chr7:72589195-74225562)	ABHD11, ABHD11-AS1 +27 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703586	GRCh37/hg19 7q11.23(chr7:72718123-74142190)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1341969	GRCh37/hg19 7q11.23(chr7:72766313-74042787)x3	ABHD11, ABHD11-AS1 +22 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 1330192	GRCh37/hg19 7q11.23(chr7:72717345-74133310)x3	ABHD11, ABHD11-AS1 +25 more	Copy number gain	Distal 7q11.23 microdeletion syndrome	GPathogenic
Select item 1071515	NC_000007.13:g.(?_73150889)_(73604636_?)del	ABHD11, CLDN3 +6 more	Deletion	Supravalvar aortic stenosis	GPathogenic
Select item 1047864	GRCh37/hg19 7q11.22-11.23(chr7:71847968-73391310)	ABHD11, ABHD11-AS1 +20 more	Copy number loss	Williams syndrome	GLikely pathogenic
Select item 988936	GRCh37/hg19 7q11.23(chr7:72717369-74142224)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	not provided	GPathogenic
Select item 980829	GRCh37/hg19 7q11.22-11.23(chr7:68977230-73939510)x1	ABHD11, ABHD11-AS1 +30 more	Copy number loss	not provided	GPathogenic
Select item 979622	GRCh37/hg19 7q11.23(chr7:72403117-76709600)x1	TBL2, TMEM120A +50 more	Copy number loss	not provided	GPathogenic
Select item 979621	GRCh37/hg19 7q11.23(chr7:72659674-74164894)x3	ABHD11, ABHD11-AS1 +25 more	Copy number gain	not provided	GPathogenic
Select item 973062	NM_148912.4(ABHD11):c.397A>G (p.Met133Val)	ABHD11 (M126V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 929343	GRCh37/hg19 7q11.23(chr7:72722981-74141840)x3	ABHD11, ABHD11-AS1 +24 more	Copy number gain	See cases	GPathogenic
Select item 830314	Single allele	FKBP6, FZD9 +25 more	Deletion	Williams syndrome	GPathogenic
Select item 814991	GRCh37/hg19 7q11.23(chr7:72996564-73597315)x1	STX1A, ABHD11 +12 more	Copy number loss	not provided	GPathogenic
Select item 814990	GRCh37/hg19 7q11.23(chr7:72621722-76007380)x1	VPS37D, CLDN4 +44 more	Copy number loss	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 686052	GRCh37/hg19 7q11.23(chr7:73124577-73232474)x3	ABHD11, ABHD11-AS1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 635960	Single allele	ABHD11, ABHD11-AS1 +24 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 635959	Single allele	ABHD11, ABHD11-AS1 +25 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 635951	Single allele	ABHD11, ABHD11-AS1 +25 more	Duplication	Neurodevelopmental disorder	GLikely pathogenic
Select item 626296	Single allele	ABHD11, ABHD11-AS1 +25 more	Deletion	not provided	GLikely pathogenic
Select item 625632	GRCh37/hg19 7q11.23(chr7:72772522-74133319)	ABHD11, ABHD11-AS1 +23 more	Copy number loss	Williams syndrome	GPathogenic
Select item 625631	GRCh37/hg19 7q11.23(chr7:72700996-74142190)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 625630	GRCh37/hg19 7q11.23(chr7:72744494-76038818)	ABHD11, ABHD11-AS1 +44 more	Copy number loss	Williams syndrome	GPathogenic
Select item 625629	GRCh37/hg19 7q11.23(chr7:72744494-74339044)	ABHD11, ABHD11-AS1 +25 more	Copy number loss	Williams syndrome	GPathogenic
Select item 625551	GRCh37/hg19 7q11.23(chr7:72721449-73959106)	ABHD11, ABHD11-AS1 +24 more	Copy number loss	Williams syndrome	GPathogenic
Select item 563409	GRCh37/hg19 7q11.23(chr7:72577021-74859638)x3	BAZ1B, ABHD11 +30 more	Copy number gain	not provided	GPathogenic
Select item 563406	GRCh37/hg19 7q11.23(chr7:72612042-74574641)x1	ABHD11-AS1, GTF2IRD1 +29 more	Copy number loss	not provided	GPathogenic
Select item 563405	GRCh37/hg19 7q11.23(chr7:72589515-74386749)x1	STX1A, EIF4H +27 more	Copy number loss	not provided	GPathogenic
Select item 563403	GRCh37/hg19 7q11.23(chr7:72608514-74386749)x1	ABHD11, ABHD11-AS1 +27 more	Copy number loss	not provided	GPathogenic
Select item 563399	GRCh37/hg19 7q11.23(chr7:72576872-74175429)x3	MIR590, EIF4H +25 more	Copy number gain	not provided	GPathogenic
Select item 563398	GRCh37/hg19 7q11.23(chr7:72577021-74147166)x3	MIR590, MLXIPL +25 more	Copy number gain	not provided	GPathogenic
Select item 563397	GRCh37/hg19 7q11.23(chr7:72701018-74143240)x3	CLDN3, CLDN4 +25 more	Copy number gain	not provided	GPathogenic
Select item 563396	GRCh37/hg19 7q11.23(chr7:72718123-74141784)x1	LIMK1, RFC2 +25 more	Copy number loss	not provided	GPathogenic
Select item 563394	GRCh37/hg19 7q11.23(chr7:72700524-74069858)x3	METTL27, ABHD11-AS1 +24 more	Copy number gain	not provided	GPathogenic
Select item 559583	Single allele	BCL7B, MIR590 +25 more	Duplication	Intestinal malrotation	GLikely pathogenic
Select item 545350	Single allele	ABHD11, ABHD11-AS1 +128 more	Duplication	Autism	GPathogenic
Select item 545349	Single allele	ABHD11, ABHD11-AS1 +128 more	Duplication	Schizophrenia	GPathogenic
Select item 523284	GRCh37/hg19 7q11.23(chr7:72772522-74133319)	CLDN3, CLDN4 +23 more	Copy number loss	Decreased body weight +14 more	GPathogenic

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