51085[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 154461	GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1	LOC129998564, LOC129998565 +351 more	Copy number loss	See cases	GPathogenic
Select item 154104	GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3	ABHD11, ABHD11-AS1 +350 more	Copy number gain	See cases	GPathogenic
Select item 58552	GRCh38/hg38 7q11.22-11.23(chr7:68668307-73710276)x1	AUTS2, BAZ1B +117 more	Copy number loss	See cases	GPathogenic
Select item 60237	GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1	SPDYE12, SPDYE13 +330 more	Copy number loss	See cases	GPathogenic
Select item 57096	GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1	ABHD11, ABHD11-AS1 +317 more	Copy number loss	See cases	GPathogenic
Select item 146545	GRCh38/hg38 7q11.22-11.23(chr7:71461127-73614730)x1	BAZ1B, BCL7B +49 more	Copy number loss	See cases	GPathogenic
Select item 155387	GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071)	ABHD11, ABHD11-AS1 +285 more	Copy number gain	See cases	GLikely pathogenic
Select item 58217	GRCh38/hg38 7q11.22-11.23(chr7:72649515-75361855)x3	ABHD11, ABHD11-AS1 +162 more	Copy number gain	See cases	GPathogenic
Select item 58218	GRCh38/hg38 7q11.23(chr7:72768821-74869255)x3	ABHD11, ABHD11-AS1 +147 more	Copy number gain	See cases	GPathogenic
Select item 57313	GRCh38/hg38 7q11.23(chr7:72930548-74869255)x1	ABHD11, ABHD11-AS1 +141 more	Copy number loss	See cases	GPathogenic
Select item 147066	GRCh38/hg38 7q11.23(chr7:72938064-74779028)x3	ABHD11, ABHD11-AS1 +140 more	Copy number gain	See cases	GPathogenic
Select item 148663	GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3	ABHD11, ABHD11-AS1 +148 more	Copy number gain	See cases	GPathogenic
Select item 146414	GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3	ABHD11, ABHD11-AS1 +148 more	Copy number gain	See cases	GUncertain significance
Select item 59305	GRCh38/hg38 7q11.23(chr7:73096542-74727989)x1	ABHD11, ABHD11-AS1 +133 more	Copy number loss	See cases	GPathogenic
Select item 153242	GRCh38/hg38 7q11.23(chr7:73175475-74740268)x3	ABHD11, ABHD11-AS1 +132 more	Copy number gain	See cases	GPathogenic
Select item 152064	GRCh38/hg38 7q11.23(chr7:73192369-74883978)x3	ABHD11, ABHD11-AS1 +134 more	Copy number gain	See cases	GPathogenic
Select item 150322	GRCh38/hg38 7q11.23(chr7:73192369-74869255)x1	ABHD11, ABHD11-AS1 +134 more	Copy number loss	See cases	GPathogenic
Select item 149044	GRCh38/hg38 7q11.23(chr7:73192369-74779057)x1	ABHD11, ABHD11-AS1 +133 more	Copy number loss	See cases	GPathogenic
Select item 149043	GRCh38/hg38 7q11.23(chr7:73192369-74779057)x3	LOC129998592, LOC129998593 +133 more	Copy number gain	See cases	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 3236844	GRCh38/hg38 7q11.23(chr7:73247356-74727974)x3	ABHD11, ABHD11-AS1 +130 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 149310	GRCh38/hg38 7q11.23(chr7:73271690-74727989)x1	ABHD11, ABHD11-AS1 +130 more	Copy number loss	See cases	GPathogenic
Select item 155323	GRCh38/hg38 7q11.23(chr7:73280574-74728722)x3	LOC129998592, LOC129998593 +129 more	Copy number gain	See cases	GPathogenic
Select item 154347	GRCh38/hg38 7q11.23(chr7:73280574-74789341)x1	ABHD11, ABHD11-AS1 +131 more	Copy number loss	See cases	GPathogenic
Select item 153973	GRCh38/hg38 7q11.23(chr7:73280574-74727918)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 150236	GRCh38/hg38 7q11.23(chr7:73280574-74779057)x3	ABHD11, ABHD11-AS1 +131 more	Copy number gain	See cases	GPathogenic
Select item 149309	GRCh38/hg38 7q11.23(chr7:73280574-74727989)x3	ABHD11, ABHD11-AS1 +129 more	Copy number gain	See cases	GPathogenic
Select item 147170	GRCh38/hg38 7q11.23(chr7:73280574-74924007)x1	ABHD11, ABHD11-AS1 +133 more	Copy number loss	See cases	GPathogenic
Select item 59315	GRCh38/hg38 7q11.23(chr7:73280574-74723034)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 58238	GRCh38/hg38 7q11.23(chr7:73280574-74839100)x3	ABHD11, ABHD11-AS1 +132 more	Copy number gain	See cases	GPathogenic
Select item 58237	GRCh38/hg38 7q11.23(chr7:73280574-74725240)x3	ABHD11, ABHD11-AS1 +129 more	Copy number gain	See cases	GPathogenic
Select item 58219	GRCh38/hg38 7q11.23(chr7:73280574-74725240)x3	ABHD11, ABHD11-AS1 +129 more	Copy number gain	See cases	GPathogenic
Select item 154259	GRCh38/hg38 7q11.23(chr7:73286125-74732517)x3	DNAJC30, EIF4H +129 more	Copy number gain	See cases	GPathogenic
Select item 154824	GRCh38/hg38 7q11.23(chr7:73286412-74758583)x1	ABHD11, ABHD11-AS1 +130 more	Copy number loss	See cases	GPathogenic
Select item 151986	GRCh38/hg38 7q11.23(chr7:73286412-74779057)x1	ABHD11, ABHD11-AS1 +131 more	Copy number loss	See cases	GPathogenic
Select item 151015	GRCh38/hg38 7q11.23(chr7:73286412-74869255)x1	ABHD11, ABHD11-AS1 +132 more	Copy number loss	See cases	GPathogenic
Select item 149308	GRCh38/hg38 7q11.23(chr7:73286412-74727989)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 59319	GRCh38/hg38 7q11.23(chr7:73286412-74707848)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 59318	GRCh38/hg38 7q11.23(chr7:73286412-74725240)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 59317	GRCh38/hg38 7q11.23(chr7:73286412-74725240)x3	ABHD11, ABHD11-AS1 +129 more	Copy number gain	See cases	GPathogenic
Select item 59316	GRCh38/hg38 7q11.23(chr7:73286412-74723034)x1	EIF4H, ELN +129 more	Copy number loss	See cases	GPathogenic
Select item 154080	GRCh38/hg38 7q11.23(chr7:73286508-74727852)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 153978	GRCh38/hg38 7q11.23(chr7:73286522-74727156)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 3252027	NC_000007.14:g.(?_73303398)_(74735532_?)del	ABHD11, ABHD11-AS1 +130 more	Deletion	Williams syndrome	GLikely pathogenic
Select item 144925	GRCh38/hg38 7q11.23(chr7:73304255-74718954)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 2574138	NC_000007.14:g.73304277_74727414del	ABHD11, ABHD11-AS1 +129 more	Deletion	Williams syndrome	GPathogenic
Select item 155565	GRCh38/hg38 7q11.23(chr7:73304280-74727852)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 58239	GRCh38/hg38 7q11.23(chr7:73312575-74723034)x3	ABHD11, ABHD11-AS1 +128 more	Copy number gain	See cases	GPathogenic
Select item 147629	GRCh38/hg38 7q11.23(chr7:73312582-74725057)x1	LOC129998612, LOC129998613 +128 more	Copy number loss	See cases	GPathogenic
Select item 545349	Single allele	ABHD11, ABHD11-AS1 +128 more	Duplication	Schizophrenia	GPathogenic
Select item 545350	Single allele	ABHD11, ABHD11-AS1 +128 more	Duplication	Autism	GPathogenic
Select item 59321	GRCh38/hg38 7q11.23(chr7:73352104-74719154)x1	ABHD11, ABHD11-AS1 +127 more	Copy number loss	See cases	GPathogenic
Select item 59320	GRCh38/hg38 7q11.23(chr7:73352104-74719154)x3	EIF4H, ELN +127 more	Copy number gain	See cases	GPathogenic
Select item 146838	GRCh38/hg38 7q11.23(chr7:73352303-74924023)x1	LOC129998611, LOC129998612 +131 more	Copy number loss	See cases	GPathogenic
Select item 146807	GRCh38/hg38 7q11.23(chr7:73352303-74719008)x1	ABHD11, ABHD11-AS1 +127 more	Copy number loss	See cases	GPathogenic
Select item 146803	GRCh38/hg38 7q11.23(chr7:73352303-74719008)x3	ABHD11, ABHD11-AS1 +127 more	Copy number gain	See cases	GPathogenic
Select item 146774	GRCh38/hg38 7q11.23(chr7:73352303-74779051)x1	ABHD11, ABHD11-AS1 +129 more	Copy number loss	See cases	GPathogenic
Select item 160898	GRCh38/hg38 7q11.23(chr7:73352304-74719013)x1	ABHD11, ABHD11-AS1 +127 more	Copy number loss	See cases	GPathogenic
Select item 160823	GRCh38/hg38 7q11.23(chr7:73352304-74924037)x1	ABHD11, ABHD11-AS1 +131 more	Copy number loss	See cases	GPathogenic
Select item 160822	GRCh38/hg38 7q11.23(chr7:73352304-74719013)x3	ABHD11, ABHD11-AS1 +127 more	Copy number gain	See cases	GPathogenic
Select item 154623	GRCh38/hg38 7q11.23(chr7:73352304-75065728)x3	LOC129998621, LOC129998622 +134 more	Copy number gain	See cases	GPathogenic
Select item 144156	GRCh38/hg38 7q11.23(chr7:73352304-76722261)x1	LOC129998696, LOC129998697 +219 more	Copy number loss	See cases	GPathogenic
Select item 57316	GRCh38/hg38 7q11.23(chr7:73352304-74869255)x1	ABHD11, ABHD11-AS1 +130 more	Copy number loss	See cases	GPathogenic
Select item 33969	GRCh38/hg38 7q11.23(chr7:73352304-74924037)x1	ABHD11, ABHD11-AS1 +131 more	Copy number loss	See cases	GPathogenic
Select item 32643	GRCh38/hg38 7q11.23(chr7:73352304-74719013)x1	ABHD11, ABHD11-AS1 +127 more	Copy number loss	See cases	GPathogenic
Select item 32380	GRCh38/hg38 7q11.23(chr7:73352304-74719013)x3	ABHD11, ABHD11-AS1 +127 more	Copy number gain	See cases	GPathogenic
Select item 1277241	NM_032951.3(MLXIPL):c.*589A>G	MLXIPL	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3295225	NM_032951.3(MLXIPL):c.2551C>T (p.Pro851Ser)	MLXIPL (P849S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 774189	NM_032951.3(MLXIPL):c.2521C>T (p.Arg841Trp)	MLXIPL (R841W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2536893	NM_032951.3(MLXIPL):c.2501G>T (p.Arg834Leu)	MLXIPL (R834L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 772888	NM_032951.3(MLXIPL):c.2490C>T (p.Thr830=)	MLXIPL	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3295223	NM_032951.3(MLXIPL):c.2471C>T (p.Thr824Ile)	MLXIPL (T822I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 726233	NM_032951.3(MLXIPL):c.2428G>A (p.Ala810Thr)	MLXIPL (A810T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2218751	NM_032951.3(MLXIPL):c.2384G>A (p.Arg795His)	MLXIPL (R795H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 789515	NM_032951.3(MLXIPL):c.2272G>A (p.Val758Ile)	MLXIPL (V739I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2550756	NM_032951.3(MLXIPL):c.2252G>A (p.Arg751Gln)	MLXIPL (R732Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 761466	NM_032951.3(MLXIPL):c.2181C>T (p.Ala727=)	MLXIPL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 708718	NM_032951.3(MLXIPL):c.2167G>A (p.Glu723Lys)	MLXIPL (E723K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 777812	NM_032951.3(MLXIPL):c.2124G>A (p.Ala708=)	MLXIPL	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 745630	NM_032951.3(MLXIPL):c.2059-8G>A	MLXIPL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3212203	NM_032951.3(MLXIPL):c.2045A>C (p.Gln682Pro)	MLXIPL (Q680P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 763279	NM_032951.3(MLXIPL):c.1971G>A (p.Ala657=)	MLXIPL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 755990	NM_032951.3(MLXIPL):c.1968C>T (p.Ser656=)	MLXIPL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3212180	NM_032951.3(MLXIPL):c.1952G>A (p.Arg651His)	MLXIPL (R649H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295226	NM_032951.3(MLXIPL):c.1951C>T (p.Arg651Cys)	MLXIPL (R649C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538533	NM_032951.3(MLXIPL):c.1937A>C (p.Lys646Thr)	MLXIPL (K646T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 762317	NM_032951.3(MLXIPL):c.1899G>A (p.Pro633=)	MLXIPL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2213155	NM_032951.3(MLXIPL):c.1885C>T (p.Arg629Cys)	MLXIPL (R629C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214904	NM_032951.3(MLXIPL):c.1831C>T (p.Arg611Trp)	MLXIPL (R611W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2657558	NM_032951.3(MLXIPL):c.1821C>T (p.Ser607=)	MLXIPL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 756162	NM_032951.3(MLXIPL):c.1813G>T (p.Ala605Ser)	MLXIPL (A605S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2256713	NM_032951.3(MLXIPL):c.1811C>G (p.Pro604Arg)	MLXIPL (P604R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491053	NM_032951.3(MLXIPL):c.1808C>G (p.Pro603Arg)	MLXIPL (P603R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484767	NM_032951.3(MLXIPL):c.1797G>T (p.Glu599Asp)	MLXIPL (E599D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215447	NM_032951.3(MLXIPL):c.1751C>T (p.Pro584Leu)	MLXIPL (P584L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479871	NM_032951.3(MLXIPL):c.1729C>A (p.Pro577Thr)	MLXIPL (P577T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 764980	NM_032951.3(MLXIPL):c.1715C>A (p.Thr572Asn)	MLXIPL (T572N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 757390	NM_032951.3(MLXIPL):c.1671+10C>T	MLXIPL	Single nucleotide variant (intron variant)	not provided	GBenign

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