LOC101929572[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146963	GRCh38/hg38 14q11.2(chr14:18600315-19967729)x1	LINC01296, LINC01297 +17 more	Copy number loss	See cases	GBenign
Select item 146947	GRCh38/hg38 14q11.2(chr14:18600315-19946044)x3	LINC01296, LINC01297 +17 more	Copy number gain	See cases	GBenign
Select item 146936	GRCh38/hg38 14q11.2(chr14:18658128-19967729)x1	LINC01296, LINC01297 +15 more	Copy number loss	See cases	GBenign
Select item 146998	GRCh38/hg38 14q11.2(chr14:18698325-19967729)x1	LINC01296, LINC01297 +15 more	Copy number loss	See cases	GBenign
Select item 147131	GRCh38/hg38 14q11.2(chr14:18907993-19433294)x3	LINC01296, LINC01297 +7 more	Copy number gain	See cases	GBenign
Select item 58303	GRCh38/hg38 14q11.2(chr14:18907993-19498584)x3	LINC01296, LINC01297 +7 more	Copy number gain	See cases	GUncertain significance
Select item 2492195	NM_001005356.3(POTEG):c.1004A>T (p.Asp335Val)	LOC101929572, POTEG (D335V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3216834	NM_001005356.3(POTEG):c.1003G>T (p.Asp335Tyr)	LOC101929572, POTEG (D335Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2551544	NM_001005356.3(POTEG):c.976G>A (p.Glu326Lys)	LOC101929572, POTEG (E326K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2466400	NM_001005356.3(POTEG):c.970C>G (p.Leu324Val)	LOC101929572, POTEG (L324V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 157299	Single allele	LOC101929572, OR11H12 +15 more	Duplication	Normal pregnancy	Gnot provided
Select item 157298	Single allele	LOC101929572, OR11H12 +9 more	Duplication	Large for gestational age	Gnot provided