"GeneDx"[submitter] AND "NANS"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59902	GRCh38/hg38 9q22.31-22.33(chr9:92561720-98122580)x3	LOC132089736, LOC132089737 +313 more	Copy number gain	See cases	GPathogenic
Select item 145977	GRCh38/hg38 9q22.32-22.33(chr9:94713892-98121186)x1	ANP32B, AOPEP +197 more	Copy number loss	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 1238110	NC_000009.12:g.98056438C>T	NANS, TRIM14	Single nucleotide variant	not provided	GBenign
Select item 1238424	NM_018946.4(NANS):c.-21T>G	LOC130002203, NANS +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1241755	NM_018946.4(NANS):c.102C>T (p.Asp34=)	NANS, TRIM14	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1250825	NM_018946.4(NANS):c.133-224T>A	NANS, TRIM14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247387	NM_018946.4(NANS):c.133-124G>A	NANS, TRIM14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250394	NM_018946.4(NANS):c.153T>C (p.Ala51=)	NANS, TRIM14	Single nucleotide variant (synonymous variant)	Spondyloepimetaphyseal dysplasia, Genevieve type +1 more	GBenign
Select item 2507125	NM_018946.4(NANS):c.200T>C (p.Leu67Ser)	NANS, TRIM14 (L67S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1271889	NM_018946.4(NANS):c.204G>C (p.Glu68Asp)	NANS, TRIM14 (E68D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1182016	NM_018946.4(NANS):c.348+81C>A	NANS, TRIM14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2507214	NM_018946.4(NANS):c.772G>T (p.Glu258Ter)	NANS, TRIM14 (E258*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1278431	NM_018946.4(NANS):c.870+53A>G	NANS, TRIM14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272840	NM_018946.4(NANS):c.870+296C>A	NANS, TRIM14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272811	NM_018946.4(NANS):c.871-121A>G	NANS, TRIM14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic