IQCC[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic
Select item 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	LOC129929998, LOC129929999 +293 more	Copy number loss	See cases	GPathogenic
Select item 59931	GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)x1	A3GALT2, ADGRB2 +214 more	Copy number loss	See cases	GPathogenic
Select item 58059	GRCh38/hg38 1p35.2-35.1(chr1:31122108-32402160)x3	LOC129930033, LOC129930034 +117 more	Copy number gain	See cases	GPathogenic
Select item 3110407	NM_018134.3(IQCC):c.25A>G (p.Lys9Glu)	IQCC, LOC129930020 (K9E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110406	NM_018134.3(IQCC):c.25A>C (p.Lys9Gln)	IQCC, LOC129930020 (K9Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286340	NM_018134.3(IQCC):c.42+115C>T	IQCC (P53S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110404	NM_018134.3(IQCC):c.42+140A>G	IQCC (N61S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2594700	NM_018134.3(IQCC):c.42+143G>A	IQCC (R62H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275832	NM_018134.3(IQCC):c.42+178C>T	IQCC (P74S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288273	NM_018134.3(IQCC):c.42+185G>A	IQCC (R76H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110405	NM_018134.3(IQCC):c.42+191A>T	IQCC (H78L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2638606	NM_018134.3(IQCC):c.42+210G>A	IQCC	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2512933	NM_018134.3(IQCC):c.104C>A (p.Ala35Glu)	IQCC (A35E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286341	NM_018134.3(IQCC):c.112C>G (p.Arg38Gly)	IQCC (R118G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367926	NM_018134.3(IQCC):c.116A>C (p.Glu39Ala)	IQCC (E119A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110408	NM_018134.3(IQCC):c.129C>G (p.Asp43Glu)	IQCC (D123E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313238	NM_018134.3(IQCC):c.137C>A (p.Thr46Lys)	IQCC (T46K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376201	NM_018134.3(IQCC):c.350G>A (p.Cys117Tyr)	IQCC (C197Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110409	NM_018134.3(IQCC):c.410C>T (p.Thr137Ile)	IQCC (T137I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356086	NM_018134.3(IQCC):c.419C>T (p.Thr140Met)	IQCC (T140M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2249260	NM_018134.3(IQCC):c.452A>C (p.Gln151Pro)	IQCC (Q151P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2533154	NM_018134.3(IQCC):c.511G>T (p.Ala171Ser)	IQCC (A251S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368338	NM_018134.3(IQCC):c.622G>A (p.Val208Met)	IQCC (V208M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2282920	NM_018134.3(IQCC):c.642A>C (p.Glu214Asp)	IQCC (E214D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286339	NM_018134.3(IQCC):c.646G>A (p.Ala216Thr)	IQCC (A296T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2326450	NM_018134.3(IQCC):c.676G>A (p.Ala226Thr)	IQCC (A306T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372818	NM_018134.3(IQCC):c.695C>T (p.Ser232Phe)	IQCC (S312F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110410	NM_018134.3(IQCC):c.722T>C (p.Leu241Pro)	IQCC (L241P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3110400	NM_018134.3(IQCC):c.811G>A (p.Ala271Thr)	IQCC (A271T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110401	NM_018134.3(IQCC):c.971C>T (p.Thr324Ile)	IQCC (T324I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2361354	NM_018134.3(IQCC):c.997C>T (p.His333Tyr)	IQCC (H333Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409308	NM_018134.3(IQCC):c.1048A>G (p.Asn350Asp)	IQCC (N350D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2547247	NM_018134.3(IQCC):c.1067C>T (p.Pro356Leu)	IQCC (P356L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110402	NM_018134.3(IQCC):c.1078G>T (p.Asp360Tyr)	IQCC (D360Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302942	NM_018134.3(IQCC):c.1112C>T (p.Thr371Ile)	IQCC (T451I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492748	NM_018134.3(IQCC):c.1142T>C (p.Ile381Thr)	IQCC (I381T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610648	NM_018134.3(IQCC):c.1205C>T (p.Pro402Leu)	IQCC (P482L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359299	NM_018134.3(IQCC):c.1258G>A (p.Glu420Lys)	IQCC (E500K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465008	NM_018134.3(IQCC):c.1343G>T (p.Gly448Val)	IQCC (G448V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535467	NM_018134.3(IQCC):c.1354G>C (p.Glu452Gln)	IQCC (E452Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526651	GRCh37/hg19 1p35.1(chr1:32462251-32721488)	TMEM234, TMEM39B +9 more	Copy number gain	not specified	GUncertain significance
Select item 1526540	GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121)	GPR3, PTPRU +66 more	Copy number gain	not specified	GUncertain significance
Select item 814067	GRCh37/hg19 1p35.2-35.1(chr1:30819875-34380419)x3	TMEM54, RBBP4 +51 more	Copy number gain	not provided	GLikely pathogenic
Select item 686004	GRCh37/hg19 1p35.2-35.1(chr1:32139063-32940848)x4	ADGRB2, BSDC1 +19 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565084	GRCh37/hg19 1p35.1(chr1:32608682-32953541)x3	FAM229A, DCDC2B +13 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 51