SLX1B[gene] - ClinVar

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Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58626	GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3	DCTPP1, DOC2A +409 more	Copy number gain	See cases	GPathogenic
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 59292	GRCh38/hg38 16p12.1-11.2(chr16:28293803-29531653)x3	APOBR, ATP2A1 +78 more	Copy number gain	See cases	GUncertain significance
Select item 60446	GRCh38/hg38 16p12.1-11.2(chr16:28366111-30183432)x3	LOC125146439, LOC125146440 +179 more	Copy number gain	See cases	GPathogenic
Select item 151177	GRCh38/hg38 16p12.1-11.2(chr16:28392832-30320693)x1	ALDOA, APOBR +187 more	Copy number loss	See cases	GPathogenic
Select item 148506	GRCh38/hg38 16p12.1-11.2(chr16:28392832-30186020)x1	ALDOA, APOBR +180 more	Copy number loss	See cases	GPathogenic
Select item 58735	GRCh38/hg38 16p12.1-11.2(chr16:28456967-30295107)x1	ALDOA, APOBR +186 more	Copy number loss	See cases	GPathogenic
Select item 146479	GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x3	ALDOA, APOBR +171 more	Copy number gain	See cases	GPathogenic
Select item 34150	GRCh38/hg38 16p12.1-11.2(chr16:28492482-30179247)x1	ALDOA, APOBR +171 more	Copy number loss	See cases	GPathogenic
Select item 60372	GRCh38/hg38 16p11.2(chr16:28531783-30183432)x1	LOC130058756, LOC130058757 +170 more	Copy number loss	See cases	GPathogenic
Select item 60447	GRCh38/hg38 16p11.2(chr16:29086504-30333716)x3	ALDOA, ASPHD1 +127 more	Copy number gain	See cases	GPathogenic
Select item 33024	GRCh38/hg38 16p11.2(chr16:29170820-30179247)x3	ALDOA, ASPHD1 +112 more	Copy number gain	See cases	GLikely pathogenic
Select item 160840	GRCh38/hg38 16p11.2(chr16:29227272-30179247)x1	ALDOA, ASPHD1 +108 more	Copy number loss	See cases	GPathogenic
Select item 57462	GRCh38/hg38 16p11.2(chr16:29227272-30321260)x3	ALDOA, ASPHD1 +120 more	Copy number gain	See cases	GPathogenic
Select item 34193	GRCh38/hg38 16p11.2(chr16:29227272-30179247)x1	ALDOA, ASPHD1 +108 more	Copy number loss	See cases	GPathogenic
Select item 32947	GRCh38/hg38 16p11.2(chr16:29227272-30179247)x3	ALDOA, ASPHD1 +108 more	Copy number gain	See cases	GPathogenic
Select item 149487	GRCh38/hg38 16p11.2(chr16:29318115-30321248)x3	ALDOA, ASPHD1 +119 more	Copy number gain	See cases	GPathogenic
Select item 146827	GRCh38/hg38 16p11.2(chr16:29318115-30179272)x3	ALDOA, ASPHD1 +107 more	Copy number gain	See cases	GPathogenic
Select item 3024180	GRCh38/hg38 16p11.2(chr16:29329272-30178707)x1	LOC130058763, LOC130058764 +107 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 223115	NC_000016.10:g.(?_29390980)_(30215610_?)dup	ALDOA, ASPHD1 +117 more	Duplication	Autism spectrum disorder	GLikely pathogenic
Select item 545198	Single allele	LOC121847977, LOC130058809 +118 more	Duplication	Autism	GPathogenic
Select item 155161	GRCh38/hg38 16p11.2(chr16:29420891-30166595)x1	ALDOA, ASPHD1 +105 more	Copy number loss	See cases	GPathogenic
Select item 152773	GRCh38/hg38 16p11.2(chr16:29427948-30186020)x1	ALDOA, ASPHD1 +110 more	Copy number loss	See cases	GPathogenic
Select item 148545	GRCh38/hg38 16p11.2(chr16:29427948-30320693)x3	ALDOA, ASPHD1 +117 more	Copy number gain	See cases	GLikely pathogenic
Select item 60464	GRCh38/hg38 16p11.2(chr16:29441012-30323310)x3	ALDOA, ASPHD1 +117 more	Copy number gain	See cases	GPathogenic
Select item 60375	GRCh38/hg38 16p11.2(chr16:29441012-30183432)x1	ALDOA, ASPHD1 +108 more	Copy number loss	See cases	GPathogenic
Select item 60374	GRCh38/hg38 16p11.2(chr16:29441012-30183432)x3	ALDOA, ASPHD1 +108 more	Copy number gain	See cases	GPathogenic
Select item 1679413	NC_000016.10:g.(29449194_29595531)_(30188533_30335547)del	LOC130058767, LOC130058768 +119 more	Deletion	See cases	GLikely pathogenic, low penetrance
Select item 2386455	NM_024044.5(SLX1B):c.607C>T (p.Pro203Ser)	SLX1B, SLX1B-SULT1A4 (P201S +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2603995	NM_024044.5(SLX1B):c.713G>T (p.Cys238Phe)	SLX1B, SLX1B-SULT1A4 (C236F +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3166187	NM_024044.5(SLX1B):c.743T>A (p.Ile248Asn)	SLX1B, SLX1B-SULT1A4 (I246N +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3320607	NM_024044.5(SLX1B):c.762C>G (p.Asp254Glu)	SLX1B, SLX1B-SULT1A4 (D140E +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2233960	NM_024044.5(SLX1B):c.821A>G (p.Glu274Gly)	SLX1B, SLX1B-SULT1A4 (E160G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243573	NC_000016.9:g.(?_28889993)_(31202759_?)del	ALDOA, ASPHD1 +76 more	Deletion	Dilated Cardiomyopathy, Dominant	GUncertain significance
Select item 3148952	GRCh37/hg19 16p11.2(chr16:29428532-30190029)x1	ALDOA, ASPHD1 +27 more	Copy number loss	See cases	GPathogenic
Select item 3148854	GRCh37/hg19 16p11.2(chr16:29412503-30190029)x3	ALDOA, ASPHD1 +27 more	Copy number gain	See cases	GUncertain significance
Select item 3063436	GRCh37/hg19 16p11.2(chr16:29427215-30177240)x1	ALDOA, ASPHD1 +27 more	Copy number loss	not specified	GPathogenic
Select item 3063430	GRCh37/hg19 16p11.2(chr16:29383808-30191848)x1	ALDOA, ASPHD1 +27 more	Copy number loss	not specified	GPathogenic
Select item 3063416	GRCh37/hg19 16p11.2(chr16:29432212-30178406)x1	ALDOA, ASPHD1 +27 more	Copy number loss	not specified	GPathogenic
Select item 2685571	GRCh37/hg19 16p11.2(chr16:29432213-30226930)x1	ALDOA, ASPHD1 +31 more	Copy number loss	not provided	GPathogenic
Select item 2685570	GRCh37/hg19 16p11.2(chr16:29412892-29580022)x1	BOLA2, SLX1B +1 more	Copy number loss	not provided	GUncertain significance
Select item 2685569	GRCh37/hg19 16p11.2(chr16:29383809-29957798)x1	ASPHD1, BOLA2 +14 more	Copy number loss	not provided	GPathogenic
Select item 2685568	GRCh37/hg19 16p11.2(chr16:29343245-30240227)x1	ALDOA, ASPHD1 +31 more	Copy number loss	not provided	GPathogenic
Select item 1808696	GRCh37/hg19 16p12.2-11.2(chr16:21576803-30177240)x3	ALDOA, APOBR +93 more	Copy number gain	not provided	GPathogenic
Select item 1808204	GRCh37/hg19 16p11.2(chr16:29432213-30240227)x1	YPEL3, ZG16 +31 more	Copy number loss	not provided	GPathogenic
Select item 1807828	GRCh37/hg19 16p11.2(chr16:28466731-30321320)x1	ALDOA, APOBR +48 more	Copy number loss	not provided	GPathogenic
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1706497	GRCh37/hg19 16p11.2(chr16:29432212-30177807)x1	HIRIP3, INO80E +27 more	Copy number loss	See cases	GPathogenic
Select item 1340752	GRCh37/hg19 16p11.2(chr16:28485883-29589674)x1	APOBR, ATP2A1 +18 more	Copy number loss	not provided	GPathogenic
Select item 1330173	GRCh37/hg19 16p11.2(chr16:28353878-29478115)x3	EIF3C, EIF3CL +20 more	Copy number gain	Distal 16p11.2 microdeletion syndrome	GLikely pathogenic
Select item 1330167	GRCh37/hg19 16p11.2(chr16:29464904-30233799)x3	ALDOA, ASPHD1 +31 more	Copy number gain	Distal 16p11.2 microdeletion syndrome	GPathogenic
Select item 1328113	GRCh37/hg19 16p12.2-11.2(chr16:21594997-29625302)x1	APOBR, AQP8 +67 more	Copy number loss	not provided	GPathogenic
Select item 992652	GRCh37/hg19 16p11.2(chr16:29443322-30320321)x3	MAPK3, SLX1A +31 more	Copy number gain	not provided	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 983165	GRCh37/hg19 16p11.2(chr16:29448001-30302100)	KIF22, TBX6 +31 more	Copy number gain	See cases	GPathogenic
Select item 979441	GRCh37/hg19 16p11.2(chr16:29383808-30177240)x3	MAZ, SLX1B +27 more	Copy number gain	not provided	GPathogenic
Select item 979440	GRCh37/hg19 16p11.2(chr16:28488319-30178406)x1	ATXN2L, PAGR1 +44 more	Copy number loss	not provided	GPathogenic
Select item 974579	Single allele	DOC2A, GDPD3 +31 more	Deletion	Proximal 16p11.2 microdeletion syndrome	Grisk factor
Select item 972938	GRCh37/hg19 16p12.2-11.2(chr16:21312200-29646379)x3	KDM8, LAT +69 more	Copy number gain	not provided	Gnot provided
Select item 815818	GRCh37/hg19 16p11.2(chr16:29432212-30178406)x1	CDIPT, DOC2A +27 more	Copy number loss	not provided	GPathogenic
Select item 815817	GRCh37/hg19 16p11.2(chr16:29432212-30177240)x1	SULT1A4, KIF22 +27 more	Copy number loss	not provided	GPathogenic
Select item 815815	GRCh37/hg19 16p11.2(chr16:28466730-30178406)x1	ZG16, QPRT +44 more	Copy number loss	not provided	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 687737	GRCh37/hg19 16p11.2(chr16:28466730-30177916)x1	ALDOA, APOBR +44 more	Copy number loss	not provided	GPathogenic
Select item 685632	GRCh37/hg19 16p11.2(chr16:28466730-30191848)x1	ALDOA, APOBR +44 more	Copy number loss	not provided	GPathogenic
Select item 625602	GRCh37/hg19 16p11.2(chr16:29042050-30199025)	ALDOA, ASPHD1 +28 more	Copy number loss	Proximal 16p11.2 microdeletion syndrome	GPathogenic
Select item 564320	GRCh37/hg19 16p11.2(chr16:29432212-30339520)x1	INO80E, KCTD13 +31 more	Copy number loss	not provided	GPathogenic
Select item 564319	GRCh37/hg19 16p11.2(chr16:29432212-30191848)x1	QPRT, C16orf92 +27 more	Copy number loss	not provided	GPathogenic
Select item 564318	GRCh37/hg19 16p11.2(chr16:29383808-30190029)x1	SLX1B, TMEM219 +27 more	Copy number loss	not provided	GPathogenic
Select item 564317	GRCh37/hg19 16p11.2(chr16:29351826-30332071)x1	ALDOA, ASPHD1 +31 more	Copy number loss	not provided	GPathogenic
Select item 443422	GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3	ACSM1, ACSM2A +128 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 443076	GRCh37/hg19 16p11.2(chr16:29421662-30240227)x3	ALDOA, ASPHD1 +31 more	Copy number gain	See cases	GLikely pathogenic
Select item 442963	GRCh37/hg19 16p11.2(chr16:28441538-30178406)x1	ALDOA, APOBR +44 more	Copy number loss	See cases	GPathogenic
Select item 442244	GRCh37/hg19 16p12.2-11.2(chr16:21596299-30399167)x1	ALDOA, APOBR +102 more	Copy number loss	See cases	GPathogenic
Select item 442090	GRCh37/hg19 16p11.2(chr16:29421694-30240227)x3	ALDOA, ASPHD1 +31 more	Copy number gain	See cases	GLikely pathogenic
Select item 395601	GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3	ACSM1, ACSM2A +119 more	Copy number gain	See cases	GPathogenic
Select item 395586	GRCh37/hg19 16p11.2(chr16:29060171-30197290)x3	TLCD3B, TMEM219 +28 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 395300	GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1	AHSP, ALDOA +99 more	Copy number loss	See cases	GLikely pathogenic
Select item 394888	GRCh37/hg19 16p11.2(chr16:29060171-29624872)x3	BOLA2, SLX1B +1 more	Copy number gain	See cases	GBenign
Select item 394291	GRCh37/hg19 16p11.2(chr16:28486693-30197290)x1	ALDOA, APOBR +45 more	Copy number loss	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 253525	GRCh37/hg19 16p11.2(chr16:29060171-30197341)x3	SPN, CORO1A +28 more	Copy number gain	See cases	GPathogenic
Select item 253490	GRCh37/hg19 16p11.2(chr16:29060171-30195607)x3	QPRT, ALDOA +28 more	Copy number gain	See cases	GPathogenic
Select item 252974	GRCh37/hg19 16p11.2(chr16:29412503-30215621)x1	ALDOA, ASPHD1 +31 more	Copy number loss	See cases	GPathogenic
Select item 221513	GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3	ACSM1, ACSM2A +95 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 91