16405[HGNC] - 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 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 60243	GRCh38/hg38 7q11.23(chr7:73614671-73942928)x1	ABHD11, ABHD11-AS1 +34 more	Copy number loss	See cases	GPathogenic
Select item 3135626	NM_017528.5(BUD23):c.5C>T (p.Ala2Val)	BUD23 (A2V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2657566	NM_017528.5(BUD23):c.6G>A (p.Ala2=)	BUD23	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3262330	NM_017528.5(BUD23):c.8C>T (p.Ser3Phe)	BUD23 (S3F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262336	NM_017528.5(BUD23):c.10C>T (p.Arg4Cys)	BUD23 (R4C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135616	NM_017528.5(BUD23):c.13G>A (p.Gly5Ser)	BUD23 (G5S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554783	NM_017528.5(BUD23):c.19C>T (p.Arg7Cys)	BUD23 (R7C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262335	NM_017528.5(BUD23):c.31G>A (p.Gly11Ser)	BUD23 (G11S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2657567	NM_017528.5(BUD23):c.71G>A (p.Arg24Gln)	BUD23 (R24Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3135618	NM_017528.5(BUD23):c.157A>G (p.Lys53Glu)	BUD23 (K53E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135619	NM_017528.5(BUD23):c.188G>A (p.Gly63Asp)	BUD23 (G63D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135620	NM_017528.5(BUD23):c.246T>A (p.Asp82Glu)	BUD23 (D82E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262334	NM_017528.5(BUD23):c.251G>C (p.Ser84Thr)	BUD23 (S84T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135621	NM_017528.5(BUD23):c.281G>T (p.Arg94Leu)	BUD23 (R94L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135622	NM_017528.5(BUD23):c.360C>G (p.Ile120Met)	BUD23 (I120M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135623	NM_017528.5(BUD23):c.401A>G (p.Lys134Arg)	BUD23 (K134R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135624	NM_017528.5(BUD23):c.463C>T (p.Arg155Trp)	BUD23 (R155W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135625	NM_017528.5(BUD23):c.514G>A (p.Glu172Lys)	BUD23 (E172K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 768159	NM_017528.5(BUD23):c.585C>T (p.Ala195=)	BUD23	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3135627	NM_017528.5(BUD23):c.672A>C (p.Glu224Asp)	BUD23 (E224D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536101	NM_017528.5(BUD23):c.683C>T (p.Ser228Phe)	BUD23 (S228F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135628	NM_017528.5(BUD23):c.692C>T (p.Thr231Ile)	BUD23 (T231I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135629	NM_017528.5(BUD23):c.702-107G>A	BUD23 (R245Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135630	NM_017528.5(BUD23):c.724C>T (p.Arg242Trp)	BUD23 (R259W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135631	NM_017528.5(BUD23):c.725G>C (p.Arg242Pro)	BUD23 (R242P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135632	NM_017528.5(BUD23):c.728G>A (p.Gly243Glu)	BUD23 (G243E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479179	NM_017528.5(BUD23):c.745C>T (p.Arg249Trp)	BUD23 (R266W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262332	NM_017528.5(BUD23):c.746G>A (p.Arg249Gln)	BUD23 (R249Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262331	NM_017528.5(BUD23):c.751T>C (p.Trp251Arg)	BUD23 (W268R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591316	NM_017528.5(BUD23):c.773G>A (p.Arg258Gln)	BUD23 (R258Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135633	NM_017528.5(BUD23):c.799A>G (p.Arg267Gly)	BUD23 (R267G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135634	NM_017528.5(BUD23):c.838C>T (p.Arg280Cys)	BUD23 (R280C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148885	GRCh37/hg19 7q11.23(chr7:72701099-74186150)x3	ABHD11, ABHD11-AS1 +25 more	Copy number gain	not provided	GPathogenic

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