ClinVar for Gene (Select 114049) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 3135629	NM_017528.5(BUD23):c.702-107G>A	BUD23 (R245Q)	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 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 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 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 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 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 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 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 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 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 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 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 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 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 2657566	NM_017528.5(BUD23):c.6G>A (p.Ala2=)	BUD23	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 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 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 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 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 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 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 768159	NM_017528.5(BUD23):c.585C>T (p.Ala195=)	BUD23	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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 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

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