"GeneDx"[submitter] AND "LOC130068417"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145980	GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1	HDAC8, HDX +410 more	Copy number loss	See cases	GPathogenic
Select item 145167	GRCh38/hg38 Xq11.1-21.1(chrX:62712219-78605009)x3	ABCB7, AMER1 +263 more	Copy number gain	See cases	GPathogenic
Select item 58641	GRCh38/hg38 Xq12-13.3(chrX:68382004-75243150)x2	ABCB7, ARR3 +161 more	Copy number gain	See cases	GPathogenic
Select item 145949	GRCh38/hg38 Xq13.1(chrX:71348829-71447967)x3	LOC130068415, LOC130068416 +2 more	Copy number gain	See cases	GLikely benign
Select item 2501336	NM_004606.5(TAF1):c.28T>G (p.Ser10Ala)	LOC130068417, TAF1 (S10A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 429244	NM_004606.5(TAF1):c.44C>T (p.Pro15Leu)	LOC130068417, TAF1 (P15L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1300486	NM_004606.5(TAF1):c.54A>T (p.Leu18Phe)	LOC130068417, TAF1 (L18F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2576639	NM_004606.5(TAF1):c.64C>T (p.Leu22Phe)	LOC130068417, TAF1 (L22F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3368066	NM_004606.5(TAF1):c.65T>G (p.Leu22Arg)	LOC130068417, TAF1 (L22R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance