8054[HGNC] - ClinVar

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Items: 82

	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 60024	GRCh38/hg38 16q23.1(chr16:76877375-77933220)x3	ADAMTS18, LINC02131 +25 more	Copy number gain	See cases	GUncertain significance
Select item 148865	GRCh38/hg38 16q23.1(chr16:77424774-77974156)x3	ADAMTS18, LINC02131 +9 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 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 769905	NM_001105663.3(NUDT7):c.22G>T (p.Glu8Ter)	LOC112486208, NUDT7 (E8*)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 3202825	NM_001105663.3(NUDT7):c.23A>T (p.Glu8Val)	LOC112486208, NUDT7 (E8V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301414	NM_001105663.3(NUDT7):c.61G>T (p.Ala21Ser)	NUDT7 (A21S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202831	NM_001105663.3(NUDT7):c.64C>T (p.Arg22Cys)	NUDT7 (R22C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522109	NM_001105663.3(NUDT7):c.100C>T (p.His34Tyr)	NUDT7 (H34Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301413	NM_001105663.3(NUDT7):c.173C>T (p.Thr58Ile)	NUDT7 (T58I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202826	NM_001105663.3(NUDT7):c.257C>A (p.Ala86Glu)	NUDT7 (A86E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202827	NM_001105663.3(NUDT7):c.290T>C (p.Val97Ala)	NUDT7 (V97A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614788	NM_001105663.3(NUDT7):c.302C>G (p.Pro101Arg)	NUDT7 (P101R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346404	NM_001105663.3(NUDT7):c.367C>T (p.Pro123Ser)	NUDT7 (P108S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251890	NM_001105663.3(NUDT7):c.368C>T (p.Pro123Leu)	NUDT7 (P108L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202828	NM_001105663.3(NUDT7):c.388C>T (p.His130Tyr)	NUDT7 (H115Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243738	NM_001105663.3(NUDT7):c.390C>G (p.His130Gln)	NUDT7 (H130Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613548	NM_001105663.3(NUDT7):c.473A>G (p.His158Arg)	NUDT7 (H143R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371300	NM_001105663.3(NUDT7):c.493C>T (p.Arg165Cys)	NUDT7 (R165C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298646	NM_001105663.3(NUDT7):c.506G>A (p.Arg169His)	NUDT7 (R169H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2366069	NM_001105663.3(NUDT7):c.518A>G (p.His173Arg)	NUDT7 (H158R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303575	NM_001105663.3(NUDT7):c.547G>A (p.Gly183Ser)	NUDT7 (G183S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202829	NM_001105663.3(NUDT7):c.553A>G (p.Thr185Ala)	NUDT7 (T132A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301412	NM_001105663.3(NUDT7):c.575C>T (p.Thr192Met)	NUDT7 (T139M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202830	NM_001105663.3(NUDT7):c.582C>A (p.Asn194Lys)	NUDT7 (N141K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3301411	NM_001105663.3(NUDT7):c.614A>G (p.Glu205Gly)	NUDT7 (E205G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2523018	NM_001105663.3(NUDT7):c.620A>T (p.Lys207Ile)	NUDT7 (K192I +2 more)	Single nucleotide variant (missense variant +1 more)	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 1807619	GRCh37/hg19 16q23.1(chr16:77323050-77931019)x3	ADAMTS18, NUDT7 +1 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 1526524	GRCh37/hg19 16q23.1(chr16:77233588-77787015)	ADAMTS18, NUDT7 +1 more	Copy number gain	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 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815839	GRCh37/hg19 16q23.1(chr16:77191839-77856232)x1	MON1B, ADAMTS18 +3 more	Copy number loss	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 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 443125	GRCh37/hg19 16q23.1(chr16:76820552-77914926)x3	ADAMTS18, MON1B +3 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 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic
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

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Items: 82