16065[HGNC] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	MIR488, MR1 +456 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129932021, LOC129932022 +478 more	Copy number loss	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 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 560081	Single allele	B3GALT2, CDC73 +53 more	Deletion	Parathyroid carcinoma +2 more	GPathogenic
Select item 60078	GRCh38/hg38 1q31.2(chr1:192567876-193180049)x1	B3GALT2, CDC73 +21 more	Copy number loss	See cases	GPathogenic
Select item 2390748	NM_197962.3(GLRX2):c.485A>G (p.Glu162Gly)	GLRX2 (E162G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355328	NM_197962.3(GLRX2):c.451C>T (p.His151Tyr)	GLRX2 (H152Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551991	NM_197962.3(GLRX2):c.299A>G (p.Asp100Gly)	GLRX2 (D101G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256144	NM_197962.3(GLRX2):c.161C>A (p.Thr54Lys)	GLRX2 (T54K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482177	NM_197962.3(GLRX2):c.157G>A (p.Ala53Thr)	GLRX2 (A13T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532306	NM_197962.3(GLRX2):c.139T>C (p.Ser47Pro)	GLRX2 (S7P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403354	NM_016066.4(GLRX2):c.77T>C (p.Ile26Thr)	GLRX2, LOC122149333 (I26T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526069	NM_016066.4(GLRX2):c.10C>G (p.Arg4Gly)	GLRX2 (R4G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	ADIPOR1, ADORA1 +185 more	Deletion	not provided	GPathogenic
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1808698	GRCh37/hg19 1q31.2-32.1(chr1:193011753-199882947)x1	CFHR3, CFHR4 +22 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 1527481	GRCh37/hg19 1q31.2(chr1:192731793-193391298)	B3GALT2, CDC73 +4 more	Copy number gain	not specified	GUncertain significance
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 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ANKRD45, BRINP3 +956 more	Duplication	Parathyroid carcinoma +2 more	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 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
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
Select item 442042	GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1	DENND1B, DHX9 +83 more	Copy number loss	See cases	GPathogenic

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Items: 28