"GeneDx"[submitter] AND "LOC126862673"[gene] - ClinVar

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Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 58301	GRCh38/hg38 17q25.3(chr17:82588128-83061939)x1	B3GNTL1, FN3K +36 more	Copy number loss	See cases	GUncertain significance
Select item 151496	GRCh38/hg38 17q25.3(chr17:82911614-83048767)x3	B3GNTL1, LOC121852957 +3 more	Copy number gain	See cases	GBenign
Select item 1224258	NM_005993.5(TBCD):c.2039-169G>C	LOC126862673, TBCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231926	NM_005993.5(TBCD):c.2039-43A>G	LOC126862673, TBCD	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1294984	NM_005993.5(TBCD):c.2039-5dup	LOC126862673, TBCD	Duplication (intron variant)	not provided	GBenign
Select item 1259332	NM_005993.5(TBCD):c.2101+114A>G	LOC126862673, TBCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270321	NM_005993.5(TBCD):c.2101+175_2101+176del	LOC126862673, TBCD	Deletion (intron variant)	not provided	GBenign
Select item 1275421	NM_005993.5(TBCD):c.2101+178_2101+179del	LOC126862673, TBCD	Deletion (intron variant)	not provided	GBenign
Select item 1251185	NM_005993.5(TBCD):c.2101+179C>T	LOC126862673, TBCD	Single nucleotide variant (intron variant)	not provided	GBenign