339479[Gene ID] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932075, LOC129932076 +560 more	Copy number loss	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	ANGPTL1, APOBEC4 +455 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129388668, LOC129388669 +477 more	Copy number loss	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	PIK3C2B, PKP1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 146285	GRCh38/hg38 1q31.1-32.1(chr1:189034483-199615866)x1	ASPM, ATP6V1G3 +173 more	Copy number loss	See cases	GPathogenic
Select item 154492	GRCh38/hg38 1q31.1-31.2(chr1:189460972-190945450)x3	BRINP3, BRINP3-DT +20 more	Copy number gain	See cases	GLikely benign
Select item 146340	GRCh38/hg38 1q31.1(chr1:189593085-190776678)x1	BRINP3, BRINP3-DT +19 more	Copy number loss	See cases	GLikely benign
Select item 154422	GRCh38/hg38 1q31.1(chr1:189593095-190116947)x3	BRINP3, LOC129388676 +7 more	Copy number gain	See cases	GLikely benign
Select item 148710	GRCh38/hg38 1q31.1(chr1:189636317-190166135)x3	BRINP3, LOC129388676 +7 more	Copy number gain	See cases	GUncertain significance
Select item 150717	GRCh38/hg38 1q31.1(chr1:189886354-190290250)x1	BRINP3, LOC129388682 +4 more	Copy number loss	See cases	GLikely benign
Select item 152129	GRCh38/hg38 1q31.1-31.2(chr1:190036204-190945450)x1	BRINP3, BRINP3-DT +13 more	Copy number loss	See cases	GUncertain significance
Select item 2260515	NM_199051.3(BRINP3):c.2261C>A (p.Pro754Gln)	BRINP3 (P754Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135070	NM_199051.3(BRINP3):c.2138T>G (p.Leu713Arg)	BRINP3 (L611R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135069	NM_199051.3(BRINP3):c.2038A>G (p.Ile680Val)	BRINP3 (I680V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306842	NM_199051.3(BRINP3):c.2029C>T (p.Pro677Ser)	BRINP3 (P575S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355944	NM_199051.3(BRINP3):c.1991A>G (p.Asn664Ser)	BRINP3 (N562S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400347	NM_199051.3(BRINP3):c.1907A>G (p.Asn636Ser)	BRINP3 (N636S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2281497	NM_199051.3(BRINP3):c.1898T>A (p.Ile633Asn)	BRINP3 (I633N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469638	NM_199051.3(BRINP3):c.1814T>C (p.Leu605Pro)	BRINP3 (L503P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605243	NM_199051.3(BRINP3):c.1630T>G (p.Ser544Ala)	BRINP3 (S544A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135067	NM_199051.3(BRINP3):c.1415G>A (p.Gly472Glu)	BRINP3 (G370E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541469	NM_199051.3(BRINP3):c.1390A>C (p.Asn464His)	BRINP3 (N362H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276342	NM_199051.3(BRINP3):c.1285C>G (p.Pro429Ala)	BRINP3 (P429A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478519	NM_199051.3(BRINP3):c.1270C>A (p.His424Asn)	BRINP3 (H424N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548316	NM_199051.3(BRINP3):c.1185A>C (p.Arg395Ser)	BRINP3 (R395S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524350	NM_199051.3(BRINP3):c.1175C>A (p.Pro392Gln)	BRINP3 (P290Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603578	NM_199051.3(BRINP3):c.1162C>A (p.Leu388Ile)	BRINP3 (L388I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135066	NM_199051.3(BRINP3):c.1130T>A (p.Phe377Tyr)	BRINP3 (F377Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135065	NM_199051.3(BRINP3):c.1082G>A (p.Ser361Asn)	BRINP3 (S259N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464502	NM_199051.3(BRINP3):c.1080C>G (p.Asn360Lys)	BRINP3 (N360K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390444	NM_199051.3(BRINP3):c.1061G>A (p.Arg354His)	BRINP3 (R354H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512919	NM_199051.3(BRINP3):c.1015T>A (p.Ser339Thr)	BRINP3 (S339T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135078	NM_199051.3(BRINP3):c.984A>T (p.Lys328Asn)	BRINP3 (K328N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489191	NM_199051.3(BRINP3):c.962A>G (p.Asp321Gly)	BRINP3 (D219G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555324	NM_199051.3(BRINP3):c.914G>A (p.Arg305Gln)	BRINP3 (R203Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135075	NM_199051.3(BRINP3):c.886A>G (p.Ile296Val)	BRINP3 (I296V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596354	NM_199051.3(BRINP3):c.826A>G (p.Asn276Asp)	BRINP3 (N276D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135074	NM_199051.3(BRINP3):c.661G>A (p.Asp221Asn)	BRINP3 (D119N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619117	NM_199051.3(BRINP3):c.521T>A (p.Leu174Gln)	BRINP3 (L174Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457778	NM_199051.3(BRINP3):c.512C>G (p.Ser171Trp)	BRINP3 (S171W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248115	NM_199051.3(BRINP3):c.347G>A (p.Arg116His)	BRINP3 (R116H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230888	NM_199051.3(BRINP3):c.337C>G (p.Leu113Val)	BRINP3 (L113V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493900	NM_199051.3(BRINP3):c.335G>T (p.Arg112Ile)	BRINP3 (R112I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369929	NM_199051.3(BRINP3):c.331A>G (p.Ile111Val)	BRINP3 (I111V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135073	NM_199051.3(BRINP3):c.262A>G (p.Asn88Asp)	BRINP3 (N88D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135072	NM_199051.3(BRINP3):c.233A>G (p.Tyr78Cys)	BRINP3 (T40A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135071	NM_199051.3(BRINP3):c.217A>G (p.Thr73Ala)	BRINP3 (T73A)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2392681	NM_199051.3(BRINP3):c.203G>T (p.Arg68Leu)	BRINP3 (G30C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135068	NM_199051.3(BRINP3):c.193G>A (p.Asp65Asn)	BRINP3 (W26* +1 more)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 3135077	NM_199051.3(BRINP3):c.97G>C (p.Ala33Pro)	BRINP3 (A33P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	IGFN1, IKBKE +211 more	Copy number gain	not provided	GPathogenic
Select item 1808632	GRCh37/hg19 1q25.2-31.2(chr1:179727182-192260142)x1	ACBD6, APOBEC4 +48 more	Copy number loss	not provided	GPathogenic
Select item 1807694	GRCh37/hg19 1q31.1-32.1(chr1:189633885-199854163)x1	ASPM, ATP6V1G3 +28 more	Copy number loss	not provided	GLikely pathogenic
Select item 1527448	GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)	ACBD6, APOBEC4 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527437	GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)	ABL2, ACBD6 +82 more	Copy number loss	not specified	GPathogenic
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1341276	GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1	ABL2, ACBD6 +56 more	Copy number loss	not provided	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 979927	GRCh37/hg19 1q31.1-31.2(chr1:190098893-192114806)x1	BRINP3	Copy number loss	not provided	GUncertain significance
Select item 979317	GRCh37/hg19 1q31.1-31.2(chr1:189776412-191289591)x3	BRINP3	Copy number gain	not provided	GUncertain significance
Select item 979316	GRCh37/hg19 1q31.1(chr1:190226030-190304397)x1	BRINP3	Copy number loss	not provided	GUncertain significance
Select item 979315	GRCh37/hg19 1q31.1(chr1:190184943-190361454)x1	BRINP3	Copy number loss	not provided	GUncertain significance
Select item 814152	GRCh37/hg19 1q31.1(chr1:190186386-190675536)x3	BRINP3	Copy number gain	not provided	GUncertain significance
Select item 814151	GRCh37/hg19 1q31.1(chr1:190161138-190304397)x1	BRINP3	Copy number loss	not provided	GUncertain significance
Select item 814145	GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1	ABL2, ACBD6 +88 more	Copy number loss	not provided	GPathogenic
Select item 688229	GRCh37/hg19 1q31.1(chr1:190177709-190356910)x1	BRINP3	Copy number loss	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 684545	Single allele	BRINP3	Deletion	not provided	Gnot provided
Select item 565207	GRCh37/hg19 1q31.1-31.2(chr1:189866906-192524467)x3	RGS18, BRINP3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 565206	GRCh37/hg19 1q31.1(chr1:189547624-190142512)x3	BRINP3	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 442042	GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1	DENND1B, DHX9 +83 more	Copy number loss	See cases	GPathogenic
Select item 253546	GRCh37/hg19 1q25.3-31.2(chr1:181572003-191524283)x1	COLGALT2, LAMC1 +35 more	Copy number loss	See cases	GPathogenic

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Items: 74