11433[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	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 154461	GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1	ABHD11, ABHD11-AS1 +350 more	Copy number loss	See cases	GPathogenic
Select item 154104	GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3	ABHD11, ABHD11-AS1 +349 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 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 3044853	NM_004603.4(STX1A):c.831C>T (p.Ile277=)	STX1A	Single nucleotide variant (3 prime UTR variant +1 more)	STX1A-related disorder	GLikely benign
Select item 741323	NM_004603.4(STX1A):c.790-6A>G	STX1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2657568	NM_004603.4(STX1A):c.785G>A (p.Arg262His)	STX1A (A247T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1679132	NM_004603.4(STX1A):c.722_724del (p.Val241del)	STX1A (V241del)	Deletion (inframe_deletion +1 more)	Autism +1 more	GLikely pathogenic
Select item 2657569	NM_004603.4(STX1A):c.678+171C>T	STX1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1679131	NM_004603.4(STX1A):c.677A>G (p.Gln226Arg)	STX1A (Q226R)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GLikely pathogenic
Select item 1679130	NM_004603.4(STX1A):c.668_670del (p.Val223del)	STX1A (V223del)	Deletion (inframe_deletion)	Autism +1 more	GLikely pathogenic
Select item 1679129	NM_004603.4(STX1A):c.554C>G (p.Ser185Cys)	STX1A (S185C)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GLikely pathogenic
Select item 2276212	NM_004603.4(STX1A):c.544A>G (p.Ile182Val)	STX1A (I182V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 984555	NM_004603.4(STX1A):c.435C>G (p.Cys145Trp)	STX1A (C145W)	Single nucleotide variant (missense variant)	Seizure +1 more	GLikely pathogenic
Select item 762294	NM_004603.4(STX1A):c.342G>A (p.Arg114=)	STX1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3051617	NM_004603.4(STX1A):c.300C>T (p.Ile100=)	STX1A	Single nucleotide variant (synonymous variant)	STX1A-related disorder	GLikely benign
Select item 1679128	NM_004603.4(STX1A):c.284-1G>A	STX1A	Single nucleotide variant (splice acceptor variant)	Autism +1 more	GPathogenic
Select item 1679133	NM_004603.4(STX1A):c.236T>G (p.Met79Arg)	STX1A (M79R)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GUncertain significance
Select item 3067602	NM_004603.4(STX1A):c.168G>A (p.Arg56=)	STX1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3056826	NM_004603.4(STX1A):c.150C>T (p.Asn50=)	STX1A	Single nucleotide variant (synonymous variant)	STX1A-related disorder	GBenign
Select item 3052372	NM_004603.4(STX1A):c.108+7G>T	STX1A	Single nucleotide variant (intron variant)	STX1A-related disorder	GLikely benign
Select item 2475881	NM_004603.4(STX1A):c.26G>A (p.Arg9His)	LOC129998608, STX1A (R9H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148885	GRCh37/hg19 7q11.23(chr7:72701099-74186150)x3	ABHD11, ABHD11-AS1 +25 more	Copy number gain	not provided	GPathogenic
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 2684488	GRCh37/hg19 7q11.23(chr7:72547476-74263704)x3	NCF1, NSUN5 +27 more	Copy number gain	not provided	GPathogenic
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 2506562	GRCh37/hg19 7q11.23(chr7:72717395-74173168)	BAZ1B, CLDN4 +25 more	Copy number loss	Williams syndrome	GPathogenic
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

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