ClinVar for Gene (Select 56942) - ClinVar

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

Links from Gene

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3267966	NM_020188.5(CMC2):c.28C>G (p.His10Asp)	CMC2 (H44D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267965	NM_020188.5(CMC2):c.173A>G (p.Lys58Arg)	CMC2 (K58R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267964	NM_020188.5(CMC2):c.124C>T (p.Arg42Trp)	CMC2 (R42W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3146211	NM_020188.5(CMC2):c.232G>A (p.Glu78Lys)	CMC2 (E112K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063447	GRCh37/hg19 16q23.2(chr16:80986532-81647826)x3	ATMIN, BCO1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 2685579	GRCh37/hg19 16q23.2(chr16:81002550-81217672)x1	ATMIN, C16orf46 +4 more	Copy number loss	not provided	GUncertain significance
Select item 2685578	GRCh37/hg19 16q23.2(chr16:80905025-81177989)x1	ATMIN, C16orf46 +4 more	Copy number loss	not provided	GUncertain significance
Select item 2684821	GRCh37/hg19 16q23.2(chr16:80891387-81346417)x3	ATMIN, BCO1 +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 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 2511777	NM_020188.5(CMC2):c.165C>G (p.Asn55Lys)	CMC2 (N55K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1809201	GRCh37/hg19 16q23.2(chr16:80896302-81152918)x1	ATMIN, C16orf46 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1808157	GRCh37/hg19 16q23.2(chr16:80975918-81049683)x1	CENPN, CMC2	Copy number loss	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 1526531	GRCh37/hg19 16q23.2(chr16:80976347-81647826)	ATMIN, BCO1 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1526530	GRCh37/hg19 16q23.2(chr16:80896301-81140605)	ATMIN, C16orf46 +4 more	Copy number loss	not specified	GUncertain significance
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 1340001	GRCh37/hg19 16q23.2(chr16:80896301-81149333)x1	ATMIN, C16orf46 +4 more	Copy number loss	not provided	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 687435	GRCh37/hg19 16q23.2(chr16:80892482-81147086)x1	ATMIN, C16orf46 +4 more	Copy number loss	not provided	GUncertain significance
Select item 685877	GRCh37/hg19 16q23.2(chr16:80892672-81133120)x1	ATMIN, C16orf46 +3 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 564358	GRCh37/hg19 16q23.2(chr16:80959318-81157385)x1	ATMIN, C16orf46 +4 more	Copy number loss	not provided	GUncertain significance
Select item 564357	GRCh37/hg19 16q23.2(chr16:80880360-81100758)x3	CMC2, ATMIN +2 more	Copy number gain	not provided	GUncertain significance
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 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 441840	GRCh37/hg19 16q23.2(chr16:80896301-81140605)x1	ATMIN, C16orf46 +4 more	Copy number loss	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 395166	GRCh37/hg19 16q23.2(chr16:81015377-81124272)x1	ATMIN, C16orf46 +3 more	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 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 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	LOC130059500, LOC130059501 +691 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 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	LOC132090448, LOC132090449 +677 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 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 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 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	LOC130059591, LOC130059592 +670 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 145976	GRCh38/hg38 16q23.1-23.3(chr16:78790450-83255421)x1	LOC130059528, LOC130059529 +162 more	Copy number loss	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 60058	GRCh38/hg38 16q23.2(chr16:80975821-81354743)x3	ATMIN, BCO1 +20 more	Copy number gain	See cases	GUncertain significance
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 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
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 71