LOC129929629[gene] - ClinVar - NCBI

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Items: 13

	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 59918	GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1	EMC1-AS1, FAM43B +221 more	Copy number loss	See cases	GPathogenic
Select item 149011	GRCh38/hg38 1p36.12(chr1:21399130-22696747)x1	ALPL, C1QA +60 more	Copy number loss	See cases	GUncertain significance
Select item 148288	GRCh38/hg38 1p36.12(chr1:21495674-22049209)x3	ALPL, CELA3A +31 more	Copy number gain	See cases	GUncertain significance
Select item 1253900	NC_000001.11:g.21937376C>A	HSPG2, LOC129929629	Single nucleotide variant	not provided	GBenign
Select item 1225545	NC_000001.11:g.21937384G>A	HSPG2, LOC129929629	Single nucleotide variant	not provided	GBenign
Select item 1284050	NC_000001.11:g.21937420G>C	HSPG2, LOC129929629	Single nucleotide variant	not provided	GBenign
Select item 1212384	NC_000001.11:g.21937430C>A	HSPG2, LOC129929629	Single nucleotide variant	not provided	GLikely benign
Select item 1203939	NC_000001.11:g.21937444G>T	HSPG2, LOC129929629	Single nucleotide variant	not provided	GLikely benign
Select item 1214968	NC_000001.11:g.21937479C>T	HSPG2, LOC129929629	Single nucleotide variant	not provided	GLikely benign
Select item 1213671	NC_000001.11:g.21937484C>A	HSPG2, LOC129929629	Single nucleotide variant	not provided	GLikely benign
Select item 1246651	NC_000001.11:g.21937496del	HSPG2, LOC129929629	Deletion	not provided	GBenign
Select item 1207955	NC_000001.11:g.21937526C>T	HSPG2, LOC129929629	Single nucleotide variant	not provided	GLikely benign