1539[HGNC] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 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 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 59491	GRCh38/hg38 16q21-22.1(chr16:62179331-67770414)x1	ACD, AGRP +176 more	Copy number loss	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 59493	GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1	ACD, AGRP +217 more	Copy number loss	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 145310	GRCh38/hg38 16q21-22.1(chr16:66245888-67473023)x1	ATP6V0D1, B3GNT9 +113 more	Copy number loss	See cases	GPathogenic
Select item 59494	GRCh38/hg38 16q22.1(chr16:66694180-67865445)x1	ACD, AGRP +155 more	Copy number loss	See cases	GPathogenic
Select item 148293	GRCh38/hg38 16q22.1(chr16:66893204-67357178)x3	B3GNT9, CBFB +70 more	Copy number gain	See cases	GUncertain significance
Select item 154697	GRCh38/hg38 16q22.1(chr16:66921669-67312444)x3	B3GNT9, CBFB +65 more	Copy number gain	See cases	GUncertain significance
Select item 1712242	NM_022845.3(CBFB):c.78+1G>T	CBFB, LOC130059175	Single nucleotide variant (splice donor variant)	Cleidocranial dysplasia 2	GPathogenic
Select item 3054501	NM_022845.3(CBFB):c.78+8_78+11del	CBFB, LOC130059175	Microsatellite (intron variant)	CBFB-related disorder	GLikely benign
Select item 1263356	NM_022845.3(CBFB):c.78+111G>A	CBFB, LOC130059175	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238725	NM_022845.3(CBFB):c.79-18G>T	CBFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2631101	NM_022845.3(CBFB):c.90_102del (p.Phe32fs)	CBFB (F32fs)	Deletion (frameshift variant)	CBFB-related disorder	GUncertain significance
Select item 1712245	NM_022845.3(CBFB):c.247C>T (p.Arg83Ter)	CBFB (R83*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3031632	NM_022845.3(CBFB):c.282+10A>G	CBFB	Single nucleotide variant (intron variant)	CBFB-related disorder	GLikely benign
Select item 1232488	NM_022845.3(CBFB):c.282+204C>T	CBFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1712243	NM_022845.3(CBFB):c.283-1039_400-7568del	CBFB	Deletion (splice acceptor variant +2 more)	Cleidocranial dysplasia 2	GPathogenic
Select item 1712246	NM_022845.3(CBFB):c.283-2A>G	CBFB	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GUncertain significance
Select item 930504	NM_022845.3(CBFB):c.295_296dup (p.Pro100fs)	CBFB (P61fs +1 more)	Duplication (frameshift variant +1 more)	Acute myeloid leukemia	GUncertain significance
Select item 1287412	NM_022845.3(CBFB):c.400-206T>C	CBFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2473963	NM_022845.3(CBFB):c.439C>G (p.Arg147Gly)	CBFB (R147G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1265589	NM_022845.3(CBFB):c.495+144G>A	CBFB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3137955	NM_022845.3(CBFB):c.518G>A (p.Ser173Asn)	CBFB (S134N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3046641	NM_022845.3(CBFB):c.*2dup	CBFB	Duplication (3 prime UTR variant)	CBFB-related disorder	GLikely benign
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3063467	GRCh37/hg19 16q12.2-22.1(chr16:55329260-67180113)x1	ADGRG1, ADGRG3 +85 more	Copy number loss	not specified	GPathogenic
Select item 2684807	GRCh37/hg19 16q21-22.1(chr16:66110708-67240652)x3	B3GNT9, BEAN1 +30 more	Copy number gain	not provided	GUncertain significance
Select item 2424194	NC_000016.9:g.(?_65821800)_(67208957_?)del	B3GNT9, BEAN1 +25 more	Deletion	not provided	GPathogenic
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	CYB5B, DDX19A +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
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 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 815823	GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1	EXOC3L1, ESRP2 +95 more	Copy number loss	not provided	GPathogenic
Select item 688030	GRCh37/hg19 16q22.1(chr16:66797153-67109495)x3	CA7, CBFB +9 more	Copy number gain	not provided	GUncertain significance
Select item 685973	GRCh37/hg19 16q22.1(chr16:66876199-67150370)x3	PDP2, PHAF1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 625609	GRCh37/hg19 16q22.1(chr16:67132790-68166320)	ACD, AGRP +47 more	Copy number loss	not provided	GPathogenic
Select item 564331	GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	AARS1, ACD +194 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 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 442784	GRCh37/hg19 16q21-22.1(chr16:66537021-67369281)x3	B3GNT9, CA7 +35 more	Copy number gain	See cases	GUncertain significance
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 221523	GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1	AARS1, ACD +174 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

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Items: 54