ClinVar for Gene (Select 6804) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3323468	NM_004603.4(STX1A):c.125G>C (p.Gly42Ala)	STX1A (G42A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3252027	NC_000007.14:g.(?_73303398)_(74735532_?)del	ABHD11, ABHD11-AS1 +130 more	Deletion	Williams syndrome	GLikely pathogenic
Select item 3251067	NM_004603.4(STX1A):c.802ATC[2] (p.Ile270del)	STX1A (I270del)	Microsatellite (no sequence alteration +1 more)	not provided	GUncertain significance
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 3067602	NM_004603.4(STX1A):c.168G>A (p.Arg56=)	STX1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 3051617	NM_004603.4(STX1A):c.300C>T (p.Ile100=)	STX1A	Single nucleotide variant (synonymous variant)	STX1A-related disorder	GLikely benign
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 2684488	GRCh37/hg19 7q11.23(chr7:72547476-74263704)x3	NCF1, NSUN5 +27 more	Copy number gain	not provided	GPathogenic
Select item 2657569	NM_004603.4(STX1A):c.678+171C>T	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 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 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 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 2276212	NM_004603.4(STX1A):c.544A>G (p.Ile182Val)	STX1A (I182V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 1679132	NM_004603.4(STX1A):c.722_724del (p.Val241del)	STX1A (V241del)	Deletion (inframe_deletion +1 more)	Autism +1 more	GLikely pathogenic
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 1679128	NM_004603.4(STX1A):c.284-1G>A	STX1A	Single nucleotide variant (splice acceptor variant)	Autism +1 more	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 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 984555	NM_004603.4(STX1A):c.435C>G (p.Cys145Trp)	STX1A (C145W)	Single nucleotide variant (missense variant)	Seizure +1 more	GLikely pathogenic
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 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 762294	NM_004603.4(STX1A):c.342G>A (p.Arg114=)	STX1A	Single nucleotide variant (synonymous variant)	not provided	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 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 563354	GRCh37/hg19 7q11.23(chr7:72686958-73113924)x3	TRIM50, BUD23 +10 more	Copy number gain	not provided	GUncertain significance
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
Select item 523283	GRCh37/hg19 7q11.23(chr7:72766313-74133332)	MLXIPL, TBL2 +23 more	Copy number loss	Abnormal facial shape +2 more	GPathogenic
Select item 446341	GRCh37/hg19 7q11.23(chr7:72722981-73198616)x1	BUD23, ABHD11 +12 more	Copy number loss	See cases	GUncertain significance
Select item 443917	GRCh37/hg19 7q11.23(chr7:72677301-74143240)x3	ABHD11, ABHD11-AS1 +25 more	Copy number gain	See cases	GPathogenic
Select item 443819	GRCh37/hg19 7q11.23(chr7:72718277-74141494)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	See cases	GPathogenic
Select item 443615	GRCh37/hg19 7q11.23(chr7:72589515-74165401)x3	ABHD11, ABHD11-AS1 +25 more	Copy number gain	See cases	GPathogenic
Select item 443516	GRCh37/hg19 7q11.23(chr7:72643631-74142190)x1	METTL27, MIR590 +25 more	Copy number loss	See cases	GPathogenic
Select item 443396	GRCh37/hg19 7q11.23(chr7:72700524-74142256)x3	ABHD11, ABHD11-AS1 +25 more	Copy number gain	See cases	GPathogenic
Select item 443244	GRCh37/hg19 7q11.23(chr7:72718277-74141746)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	See cases	GPathogenic
Select item 443182	GRCh37/hg19 7q11.23(chr7:72718277-74287433)x1	ABHD11, ABHD11-AS1 +27 more	Copy number loss	See cases	GPathogenic
Select item 443008	GRCh37/hg19 7q11.23(chr7:72677173-74143140)x3	CLDN3, ABHD11 +25 more	Copy number gain	See cases	GPathogenic
Select item 442970	GRCh37/hg19 7q11.23(chr7:72691242-74142190)x1	ABHD11, ABHD11-AS1 +25 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic

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