23030[HGNC] - ClinVar

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Items: 81

	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 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 59517	GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1	LOC130059506, LOC130059507 +447 more	Copy number loss	See cases	GPathogenic
Select item 145976	GRCh38/hg38 16q23.1-23.3(chr16:78790450-83255421)x1	LOC130059528, LOC130059529 +162 more	Copy number loss	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	LOC130059746, LOC130059747 +719 more	Copy number gain	See cases	GPathogenic
Select item 57099	GRCh38/hg38 16q23.2(chr16:79455147-81109328)x1	ARLNC1, ATMIN +59 more	Copy number loss	See cases	GPathogenic
Select item 2665080	GRCh38/hg38 16q23.2-23.3(chr16:79568000-83552000)	ARLNC1, ATMIN +162 more	Copy number loss	CMIP-related neurodevelopmental disorder	GLikely pathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	LOC130059500, LOC130059501 +691 more	Copy number gain	See cases	GPathogenic
Select item 2351963	NM_152342.4(CDYL2):c.1391G>A (p.Arg464Gln)	CDYL2 (R464Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141782	NM_152342.4(CDYL2):c.1372G>A (p.Glu458Lys)	CDYL2 (E458K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329324	NM_152342.4(CDYL2):c.1243C>T (p.Arg415Trp)	CDYL2 (R415W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238531	NM_152342.4(CDYL2):c.1210G>T (p.Val404Phe)	CDYL2 (V404F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265645	NM_152342.4(CDYL2):c.1160G>A (p.Arg387His)	CDYL2 (R387H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781341	NM_152342.4(CDYL2):c.1065G>T (p.Gly355=)	CDYL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3141781	NM_152342.4(CDYL2):c.1051G>C (p.Val351Leu)	CDYL2 (V351L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392252	NM_152342.4(CDYL2):c.988C>T (p.Arg330Trp)	CDYL2 (R330W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141790	NM_152342.4(CDYL2):c.952G>A (p.Gly318Ser)	CDYL2 (G318S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247900	NM_152342.4(CDYL2):c.931C>G (p.Leu311Val)	CDYL2 (L311V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141788	NM_152342.4(CDYL2):c.857C>T (p.Ala286Val)	CDYL2 (A286V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534854	NM_152342.4(CDYL2):c.850C>T (p.Arg284Trp)	CDYL2 (R284W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274430	NM_152342.4(CDYL2):c.806C>T (p.Thr269Ile)	CDYL2 (T269I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141787	NM_152342.4(CDYL2):c.804G>T (p.Gln268His)	CDYL2 (Q268H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784661	NM_152342.4(CDYL2):c.783G>A (p.Thr261=)	CDYL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2610736	NM_152342.4(CDYL2):c.701A>G (p.Lys234Arg)	CDYL2 (K234R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354433	NM_152342.4(CDYL2):c.680A>G (p.Glu227Gly)	CDYL2 (E227G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616733	NM_152342.4(CDYL2):c.659T>C (p.Val220Ala)	CDYL2 (V220A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552152	NM_152342.4(CDYL2):c.620C>A (p.Ser207Tyr)	CDYL2 (S207Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226405	NM_152342.4(CDYL2):c.598C>G (p.Leu200Val)	CDYL2 (L200V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522641	NM_152342.4(CDYL2):c.549T>A (p.Asp183Glu)	CDYL2 (D183E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518197	NM_152342.4(CDYL2):c.488C>T (p.Ser163Phe)	CDYL2 (S163F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141786	NM_152342.4(CDYL2):c.399G>C (p.Lys133Asn)	CDYL2 (K133N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299243	NM_152342.4(CDYL2):c.359A>G (p.Tyr120Cys)	CDYL2 (Y120C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141785	NM_152342.4(CDYL2):c.353A>G (p.Lys118Arg)	CDYL2 (K118R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329767	NM_152342.4(CDYL2):c.341C>G (p.Ala114Gly)	CDYL2 (A114G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141784	NM_152342.4(CDYL2):c.287C>T (p.Pro96Leu)	CDYL2 (P96L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141783	NM_152342.4(CDYL2):c.251C>T (p.Pro84Leu)	CDYL2 (P84L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487145	NM_152342.4(CDYL2):c.217A>G (p.Ser73Gly)	CDYL2 (S73G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3265644	NM_152342.4(CDYL2):c.184A>G (p.Lys62Glu)	CDYL2 (K62E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385788	NM_152342.4(CDYL2):c.122C>T (p.Pro41Leu)	CDYL2 (P41L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	LOC132090448, LOC132090449 +677 more	Copy number gain	See cases	GPathogenic
Select item 3243515	NC_000016.9:g.(?_78420737)_(81991603_?)del	ATMIN, BCO1 +12 more	Deletion	Autosomal recessive spinocerebellar ataxia 12 +1 more	GPathogenic
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 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 1526528	GRCh37/hg19 16q23.2(chr16:80228506-81280700)	ATMIN, BCO1 +7 more	Copy number gain	not specified	GUncertain significance
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 1328115	GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3	BANP, BCO1 +102 more	Copy number gain	not provided	GPathogenic
Select item 979478	GRCh37/hg19 16q23.2-23.3(chr16:80483625-82044152)x1	ATMIN, BCO1 +11 more	Copy number loss	not provided	GLikely pathogenic
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 815850	GRCh37/hg19 16q23.2-23.3(chr16:80476611-82397606)x1	CDYL2, CENPN +13 more	Copy number loss	not provided	GLikely pathogenic
Select item 815849	GRCh37/hg19 16q23.1-23.2(chr16:78426151-81049683)x3	CDYL2, CENPN +4 more	Copy number gain	not provided	GUncertain significance
Select item 689307	GRCh37/hg19 16q23.2-24.1(chr16:79254648-84827672)x1	ADAD2, ATMIN +34 more	Copy number loss	not provided	GUncertain significance
Select item 584186	NC_000016.9:g.(?_80623263)_(81411221_?)del	PKD1L2, CENPN +7 more	Deletion	Giant axonal neuropathy 1	GPathogenic
Select item 564356	GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3	ACSF3, ADAD2 +103 more	Copy number gain	not provided	GPathogenic
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 560156	Single allele	ATMIN, C16orf46 +6 more	Duplication	not provided	GUncertain significance
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 443549	GRCh37/hg19 16q23.2(chr16:80241243-80799888)x1	CDYL2, DYNLRB2	Copy number loss	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 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 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: 81