LOC129932144[gene] - ClinVar

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	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 3043677	NM_002923.4(RGS2):c.-3A>G	LOC129932144, RGS2	Single nucleotide variant (5 prime UTR variant)	RGS2-related disorder	GBenign
Select item 2554929	NM_002923.4(RGS2):c.32A>G (p.His11Arg)	LOC129932144, RGS2 (H11R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153861	NM_002923.4(RGS2):c.49G>A (p.Asp17Asn)	LOC129932144, RGS2 (D17N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403375	NM_002923.4(RGS2):c.68G>A (p.Gly23Asp)	LOC129932144, RGS2 (G23D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance