"GeneDx"[submitter] AND "LOC129992296"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58026	GRCh38/hg38 4p15.33-15.31(chr4:14659764-18274924)x3	BST1, C1QTNF7 +84 more	Copy number gain	See cases	GPathogenic
Select item 1189574	NM_153365.3(TAPT1):c.199+155_199+163del	LOC129992296, TAPT1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1236274	NM_153365.3(TAPT1):c.199+101T>C	LOC129992296, TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278862	NM_153365.3(TAPT1):c.199+59C>T	LOC129992296, TAPT1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212785	NM_153365.3(TAPT1):c.137T>G (p.Leu46Arg)	LOC129992296, TAPT1 (L46R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign

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