23329[HGNC] - ClinVar

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Items: 73

	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 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 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 3193222	NM_001305203.2(ZFP90):c.213G>C (p.Glu71Asp)	ZFP90 (E71D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193223	NM_001305203.2(ZFP90):c.220A>G (p.Ile74Val)	ZFP90 (I74V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193224	NM_001305203.2(ZFP90):c.290A>G (p.His97Arg)	ZFP90 (H97R)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2411627	NM_001305203.2(ZFP90):c.347C>G (p.Thr116Arg)	ZFP90 (T116R)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2359861	NM_001305203.2(ZFP90):c.372C>A (p.Ser124Arg)	ZFP90 (S124R)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2334353	NM_001305203.2(ZFP90):c.394G>A (p.Glu132Lys)	ZFP90 (E132K)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2454867	NM_001305203.2(ZFP90):c.449C>T (p.Thr150Ile)	ZFP90 (T150I)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2252713	NM_001305203.2(ZFP90):c.463T>C (p.Phe155Leu)	ZFP90 (F155L)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2247042	NM_001305203.2(ZFP90):c.490T>A (p.Ser164Thr)	ZFP90 (S164T)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3334528	NM_001305203.2(ZFP90):c.506A>T (p.Asn169Ile)	ZFP90 (N169I)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2237990	NM_001305203.2(ZFP90):c.608A>C (p.Asn203Thr)	ZFP90 (N203T)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3193225	NM_001305203.2(ZFP90):c.617C>T (p.Ala206Val)	ZFP90 (A206V)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2306770	NM_001305203.2(ZFP90):c.622A>G (p.Lys208Glu)	ZFP90 (K208E)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2246412	NM_001305203.2(ZFP90):c.670T>C (p.Ser224Pro)	ZFP90 (S224P)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2554718	NM_001305203.2(ZFP90):c.700A>G (p.Lys234Glu)	ZFP90 (K234E)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3193226	NM_001305203.2(ZFP90):c.772G>A (p.Asp258Asn)	ZFP90 (D258N)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2301269	NM_001305203.2(ZFP90):c.775T>C (p.Cys259Arg)	ZFP90 (C259R)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3193227	NM_001305203.2(ZFP90):c.785C>A (p.Thr262Asn)	ZFP90 (T262N)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2401485	NM_001305203.2(ZFP90):c.853A>T (p.Asn285Tyr)	ZFP90 (N285Y)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2551559	NM_001305203.2(ZFP90):c.916G>A (p.Gly306Arg)	ZFP90 (G306R)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2458094	NM_001305203.2(ZFP90):c.951A>C (p.Lys317Asn)	ZFP90 (K317N)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3334527	NM_001305203.2(ZFP90):c.974T>C (p.Leu325Pro)	ZFP90 (L325P)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2546362	NM_001305203.2(ZFP90):c.1130G>A (p.Arg377Gln)	ZFP90 (R377Q)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3193218	NM_001305203.2(ZFP90):c.1277A>G (p.Asn426Ser)	ZFP90 (N426S)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3334530	NM_001305203.2(ZFP90):c.1319A>T (p.Asp440Val)	ZFP90 (D440V)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3334529	NM_001305203.2(ZFP90):c.1319A>G (p.Asp440Gly)	ZFP90 (D440G)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2210776	NM_001305203.2(ZFP90):c.1336G>A (p.Glu446Lys)	ZFP90 (E446K)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2407142	NM_001305203.2(ZFP90):c.1352A>G (p.His451Arg)	ZFP90 (H451R)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3193220	NM_001305203.2(ZFP90):c.1354T>C (p.Cys452Arg)	ZFP90 (C452R)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2539846	NM_001305203.2(ZFP90):c.1403A>G (p.His468Arg)	ZFP90 (H468R)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3334526	NM_001305203.2(ZFP90):c.1444C>G (p.Gln482Glu)	ZFP90 (Q482E)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3193221	NM_001305203.2(ZFP90):c.1487C>T (p.Pro496Leu)	ZFP90 (P496L)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2558793	NM_001305203.2(ZFP90):c.1514C>G (p.Ala505Gly)	ZFP90 (A505G)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2391009	NM_001305203.2(ZFP90):c.1537A>G (p.Ile513Val)	ZFP90 (I513V)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2525113	NM_001305203.2(ZFP90):c.1609C>T (p.Arg537Cys)	ZFP90 (R537C)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2302910	NM_001305203.2(ZFP90):c.1670A>C (p.Asp557Ala)	ZFP90 (D557A)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2385588	NM_001305203.2(ZFP90):c.1781C>A (p.Thr594Asn)	ZFP90 (T594N)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3334525	NM_001305203.2(ZFP90):c.1795C>T (p.His599Tyr)	ZFP90 (H599Y)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2325079	NM_001305203.2(ZFP90):c.1803A>C (p.Arg601Ser)	ZFP90 (R601S)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2260390	NM_001305203.2(ZFP90):c.1808A>G (p.His603Arg)	ZFP90 (H603R)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3063446	GRCh37/hg19 16q22.1(chr16:67583728-69977397)x3	ACD, C16orf86 +48 more	Copy number gain	not specified	GUncertain significance
Select item 2685574	GRCh37/hg19 16q22.1(chr16:68565700-68700117)x1	CDH3, ZFP90	Copy number loss	not provided	GUncertain significance
Select item 2684810	GRCh37/hg19 16q22.1(chr16:68292285-69424236)x3	CDH1, CDH3 +17 more	Copy number gain	not provided	GUncertain significance
Select item 2684809	GRCh37/hg19 16q22.1(chr16:67498380-68754276)x3	ACD, AGRP +33 more	Copy number gain	not provided	GUncertain significance
Select item 2424241	NC_000016.9:g.(?_68349883)_(68732303_?)del	CDH3, PRMT7 +2 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 1807851	GRCh37/hg19 16q22.1(chr16:68326200-68970975)x3	CDH1, CDH3 +6 more	Copy number gain	not provided	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 980683	GRCh37/hg19 16q22.1(chr16:68572832-68817937)x1	CDH3, ZFP90 +1 more	Copy number loss	not provided	GLikely pathogenic
Select item 980682	GRCh37/hg19 16q22.1(chr16:68584803-68737019)x3	ZFP90, CDH3	Copy number gain	not provided	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 815823	GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1	EXOC3L1, ESRP2 +95 more	Copy number loss	not provided	GPathogenic
Select item 564337	GRCh37/hg19 16q22.1(chr16:68417085-68914451)x3	ZFP90, SMPD3 +3 more	Copy number gain	not provided	GUncertain significance
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 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: 73