2052[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	LOC132090408, LOC132090409 +572 more	Copy number gain	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	LOC112486211, LOC112486212 +360 more	Copy number loss	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 146126	GRCh38/hg38 16q23.1(chr16:75541502-79154140)x1	ADAMTS18, ADAT1 +102 more	Copy number loss	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	See cases	GPathogenic
Select item 60025	GRCh38/hg38 16q23.1(chr16:77515483-78109855)x3	CLEC3A, LINC02131 +24 more	Copy number gain	See cases	GUncertain significance
Select item 146994	GRCh38/hg38 16q23.1(chr16:77613187-78311038)x3	CLEC3A, LOC112486208 +30 more	Copy number gain	See cases	GUncertain significance
Select item 148295	GRCh38/hg38 16q23.1(chr16:77624088-78386825)x3	CLEC3A, LOC112486208 +33 more	Copy number gain	See cases	GLikely benign
Select item 151489	GRCh38/hg38 16q23.1(chr16:77630519-78171567)x3	CLEC3A, LOC112486208 +26 more	Copy number gain	See cases	GUncertain significance
Select item 153083	GRCh38/hg38 16q23.1(chr16:77637681-78064640)x1	CLEC3A, LOC112486208 +20 more	Copy number loss	See cases	GUncertain significance
Select item 145661	GRCh38/hg38 16q23.1(chr16:77637681-78153207)x3	CLEC3A, LOC112486208 +25 more	Copy number gain	See cases	GLikely benign
Select item 1341791	NC_000016.10:g.77893032_78561479dup	CLEC3A, LOC110120570 +32 more	Duplication	Developmental and epileptic encephalopathy, 28	GUncertain significance
Select item 148498	GRCh38/hg38 16q23.1(chr16:77899896-78547533)x3	CLEC3A, LOC110120570 +32 more	Copy number gain	See cases	GUncertain significance
Select item 60026	GRCh38/hg38 16q23.1(chr16:77919420-78781576)x3	CLEC3A, LOC110120570 +35 more	Copy number gain	See cases	GUncertain significance
Select item 60027	GRCh38/hg38 16q23.1(chr16:77960806-78620032)x3	CLEC3A, LOC110120570 +31 more	Copy number gain	See cases	GUncertain significance
Select item 3145657	NM_005752.6(CLEC3A):c.1A>G (p.Met1Val)	CLEC3A (M1V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339394	NM_005752.6(CLEC3A):c.140A>G (p.Gln47Arg)	CLEC3A (Q47R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252937	NM_005752.6(CLEC3A):c.346G>A (p.Asp116Asn)	CLEC3A (D116N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145659	NM_005752.6(CLEC3A):c.556A>G (p.Ser186Gly)	CLEC3A (S186G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243679	NC_000016.9:g.(?_77317853)_(78466669_?)dup	ADAMTS18, CLEC3A +3 more	Duplication	not provided	GUncertain significance
Select item 3063470	GRCh37/hg19 16q23.1(chr16:75947360-78217943)x3	ADAMTS18, CLEC3A +6 more	Copy number gain	not specified	GUncertain significance
Select item 2684820	GRCh37/hg19 16q23.1(chr16:77075284-78151019)x3	ADAMTS18, CLEC3A +5 more	Copy number gain	not provided	GUncertain significance
Select item 2684818	GRCh37/hg19 16q23.1(chr16:76969076-78821137)x3	ADAMTS18, CLEC3A +5 more	Copy number gain	not provided	GUncertain significance
Select item 2684813	GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3	ADAMTS18, ADAT1 +67 more	Copy number gain	not provided	GPathogenic
Select item 1809401	GRCh37/hg19 16q22.3-23.1(chr16:73673334-78137887)x1	ADAMTS18, ADAT1 +29 more	Copy number loss	not provided	GUncertain significance
Select item 1808954	GRCh37/hg19 16q23.1(chr16:77127830-79168848)x3	ADAMTS18, CLEC3A +5 more	Copy number gain	not provided	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	ACSF3, ADAD2 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1526526	GRCh37/hg19 16q23.1-23.2(chr16:77960664-81429258)	ATMIN, BCO1 +12 more	Copy number loss	not specified	GUncertain significance
Select item 980692	GRCh37/hg19 16q23.1(chr16:77451482-78341924)x3	CLEC3A, VAT1L +3 more	Copy number gain	not provided	GUncertain significance
Select item 980691	GRCh37/hg19 16q23.1(chr16:77928003-78594966)x4	VAT1L, CLEC3A +1 more	Copy number gain	not provided	GLikely benign
Select item 979476	GRCh37/hg19 16q23.1-23.2(chr16:78064093-79320656)x3	CLEC3A, WWOX	Copy number gain	not provided	GUncertain significance
Select item 974793	GRCh37/hg19 16q23.1(chr16:77896747-79037091)x1	WWOX, CLEC3A +1 more	Copy number loss	Intellectual disability +1 more	GLikely benign
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815844	GRCh37/hg19 16q23.1(chr16:77963711-78463588)x3	VAT1L, WWOX +1 more	Copy number gain	not provided	GUncertain significance
Select item 815843	GRCh37/hg19 16q23.1(chr16:77826202-78334723)x3	VAT1L, WWOX +1 more	Copy number gain	not provided	GUncertain significance
Select item 815842	GRCh37/hg19 16q23.1(chr16:77826202-78379662)x3	VAT1L, WWOX +1 more	Copy number gain	not provided	GUncertain significance
Select item 815838	GRCh37/hg19 16q23.1(chr16:77112563-79015106)x3	CLEC3A, WWOX +5 more	Copy number gain	not provided	GUncertain significance
Select item 688615	GRCh37/hg19 16q23.1(chr16:77067527-78159698)x3	ADAMTS18, CLEC3A +5 more	Copy number gain	not provided	GUncertain significance
Select item 686270	GRCh37/hg19 16q23.1(chr16:77956365-78795975)x3	CLEC3A, VAT1L +1 more	Copy number gain	not provided	GUncertain significance
Select item 685320	GRCh37/hg19 16q23.1(chr16:77834426-78227247)x3	CLEC3A, VAT1L +1 more	Copy number gain	not provided	GUncertain significance
Select item 685010	GRCh37/hg19 16q23.1(chr16:78024552-78167658)x1	CLEC3A, WWOX	Copy number loss	not provided	GUncertain significance
Select item 624464	GRCh37/hg19 16q23.1(chr16:77981957-79037091)x1	CLEC3A, VAT1L +1 more	Copy number loss	not provided	GLikely pathogenic
Select item 564352	GRCh37/hg19 16q23.1(chr16:77930189-78594966)x3	WWOX, CLEC3A +1 more	Copy number gain	not provided	GUncertain significance
Select item 564349	GRCh37/hg19 16q23.1(chr16:77087399-78395997)x3	ADAMTS18, MON1B +5 more	Copy number gain	not provided	GUncertain significance
Select item 564348	GRCh37/hg19 16q23.1(chr16:76955286-79080596)x3	MON1B, VAT1L +5 more	Copy number gain	not provided	GUncertain significance
Select item 564342	GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3	ACSF3, ADAD2 +136 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 446361	GRCh37/hg19 16q23.1(chr16:77756613-78960323)x3	CLEC3A, NUDT7 +2 more	Copy number gain	See cases	GUncertain significance
Select item 443160	GRCh37/hg19 16q23.1(chr16:77031380-78324120)x3	ADAMTS18, CLEC3A +5 more	Copy number gain	See cases	GUncertain significance
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 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 442207	GRCh37/hg19 16q23.1(chr16:77157651-78354060)x3	ADAMTS18, CLEC3A +5 more	Copy number gain	See cases	GUncertain significance
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 394140	GRCh37/hg19 16q23.1(chr16:78056524-78065884)x1	CLEC3A	Copy number loss	See cases	GLikely benign
Select item 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic
Select item 236386	Single allele	CLEC3A, VAT1L +1 more	Duplication	Autism spectrum disorder	Gassociation
Select item 236385	Single allele	CLEC3A, VAT1L +1 more	Duplication	Autism spectrum disorder	Gassociation
Select item 236384	Single allele	WWOX, CLEC3A +2 more	Duplication	Autism spectrum disorder	Gassociation
Select item 221527	GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1	ACSF3, ADAD2 +140 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 218968	t(5;16)(p15.31;q23.1)	C16orf46, C16orf74 +150 more	Translocation	not provided	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 76