LOC100287290[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937944, LOC129937945 +630 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938007, LOC129938008 +1317 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC129938312, LOC129938313 +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937897, LOC129937898 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 57993	GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3	ACTRT3, ARL14 +303 more	Copy number gain	See cases	GPathogenic
Select item 57797	GRCh38/hg38 3q25.32-25.33(chr3:158614801-159429760)x3	GFM1, IQCJ +19 more	Copy number gain	See cases	GUncertain significance
Select item 60124	GRCh38/hg38 3q25.32(chr3:158652224-159036456)x1	GFM1, LOC100287290 +13 more	Copy number loss	See cases	GUncertain significance
Select item 155696	GRCh38/hg38 3q25.32(chr3:158707865-158948178)x1	LOC100287290, LOC110121239 +11 more	Copy number loss	See cases	GLikely benign
Select item 155291	GRCh38/hg38 3q25.32(chr3:158707865-158947436)x1	LOC100287290, LOC110121239 +11 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 3151658	NM_206963.2(RARRES1):c.34T>C (p.Trp12Arg)	LOC100287290, RARRES1 (W12R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2344505	NM_206963.2(RARRES1):c.34T>A (p.Trp12Arg)	LOC100287290, RARRES1 (W12R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign