BAZ1B[gene] - 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 155277	GRCh38/hg38 7q11.22-11.23(chr7:71478043-73444574)x1	BAZ1B, CALN1 +34 more	Copy number loss	See cases	GUncertain significance
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 148662	GRCh38/hg38 7q11.23(chr7:73286412-73556222)x1	BAZ1B, BCL7B +12 more	Copy number loss	See cases	GUncertain significance
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 2465609	NM_032408.4(BAZ1B):c.4432G>A (p.Gly1478Arg)	BAZ1B (G1478R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 752384	NM_032408.4(BAZ1B):c.4428C>T (p.Ser1476=)	BAZ1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2494477	NM_032408.4(BAZ1B):c.4402A>G (p.Ser1468Gly)	BAZ1B (S1468G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788296	NM_032408.4(BAZ1B):c.4344A>G (p.Pro1448=)	BAZ1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708480	NM_032408.4(BAZ1B):c.4302G>A (p.Gln1434=)	BAZ1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 715956	NM_032408.4(BAZ1B):c.4293G>A (p.Lys1431=)	BAZ1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2601977	NM_032408.4(BAZ1B):c.4181C>T (p.Ser1394Phe)	BAZ1B (S1394F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2630459	NM_032408.4(BAZ1B):c.4144C>T (p.His1382Tyr)	BAZ1B (H1382Y)	Single nucleotide variant (missense variant)	BAZ1B-related disorder	GUncertain significance
Select item 2283837	NM_032408.4(BAZ1B):c.4142C>T (p.Thr1381Met)	BAZ1B (T1381M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 744430	NM_032408.4(BAZ1B):c.4094+7G>C	BAZ1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 719235	NM_032408.4(BAZ1B):c.4065C>T (p.Ile1355=)	BAZ1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3133058	NM_032408.4(BAZ1B):c.4037A>G (p.Gln1346Arg)	BAZ1B (Q1346R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657552	NM_032408.4(BAZ1B):c.4035G>A (p.Leu1345=)	BAZ1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 715404	NM_032408.4(BAZ1B):c.4019G>A (p.Arg1340Lys)	BAZ1B (R1340K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 724539	NM_032408.4(BAZ1B):c.3993G>A (p.Val1331=)	BAZ1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737208	NM_032408.4(BAZ1B):c.3991-9T>G	BAZ1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2291933	NM_032408.4(BAZ1B):c.3964G>A (p.Val1322Met)	BAZ1B (V1322M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3260478	NM_032408.4(BAZ1B):c.3958C>T (p.Pro1320Ser)	BAZ1B (P1320S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484623	NM_032408.4(BAZ1B):c.3955G>A (p.Ala1319Thr)	BAZ1B (A1319T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657553	NM_032408.4(BAZ1B):c.3936C>T (p.Thr1312=)	BAZ1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2395205	NM_032408.4(BAZ1B):c.3910C>T (p.Arg1304Cys)	BAZ1B (R1304C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553967	NM_032408.4(BAZ1B):c.3904G>T (p.Gly1302Cys)	BAZ1B (G1302C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209028	NM_032408.4(BAZ1B):c.3904G>C (p.Gly1302Arg)	BAZ1B (G1302R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316554	NM_032408.4(BAZ1B):c.3886C>T (p.Pro1296Ser)	BAZ1B (P1296S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133056	NM_032408.4(BAZ1B):c.3727A>G (p.Arg1243Gly)	BAZ1B (R1243G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355052	NM_032408.4(BAZ1B):c.3721C>T (p.Arg1241Cys)	BAZ1B (R1241C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472501	NM_032408.4(BAZ1B):c.3713G>A (p.Arg1238His)	BAZ1B (R1238H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133055	NM_032408.4(BAZ1B):c.3661G>A (p.Val1221Ile)	BAZ1B (V1221I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770739	NM_032408.4(BAZ1B):c.3581-6C>T	BAZ1B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3029920	NM_032408.4(BAZ1B):c.3571C>T (p.Arg1191Ter)	BAZ1B (R1191*)	Single nucleotide variant (nonsense)	BAZ1B-related disorder	GUncertain significance

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