ClinVar for Gene (Select 10143) - ClinVar

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Links from Gene

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243679	NC_000016.9:g.(?_77317853)_(78466669_?)dup	ADAMTS18, CLEC3A +3 more	Duplication	not provided	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 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 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 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 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 1341791	NC_000016.10:g.77893032_78561479dup	CLEC3A, LOC110120570 +32 more	Duplication	Developmental and epileptic encephalopathy, 28	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	CLEC3A, NUDT7 +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
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
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 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 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 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 153083	GRCh38/hg38 16q23.1(chr16:77637681-78064640)x1	CLEC3A, LOC112486208 +20 more	Copy number loss	See cases	GUncertain significance
Select item 151489	GRCh38/hg38 16q23.1(chr16:77630519-78171567)x3	CLEC3A, LOC112486208 +26 more	Copy number gain	See cases	GUncertain significance
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	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 148498	GRCh38/hg38 16q23.1(chr16:77899896-78547533)x3	CLEC3A, LOC110120570 +32 more	Copy number gain	See cases	GUncertain significance
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 148295	GRCh38/hg38 16q23.1(chr16:77624088-78386825)x3	CLEC3A, LOC112486208 +33 more	Copy number gain	See cases	GLikely benign
Select item 146994	GRCh38/hg38 16q23.1(chr16:77613187-78311038)x3	CLEC3A, LOC112486208 +30 more	Copy number gain	See cases	GUncertain significance
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 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 145661	GRCh38/hg38 16q23.1(chr16:77637681-78153207)x3	CLEC3A, LOC112486208 +25 more	Copy number gain	See cases	GLikely benign
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 60027	GRCh38/hg38 16q23.1(chr16:77960806-78620032)x3	CLEC3A, LOC110120570 +31 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 60025	GRCh38/hg38 16q23.1(chr16:77515483-78109855)x3	CLEC3A, LINC02131 +24 more	Copy number gain	See cases	GUncertain significance
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 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	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 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 76