"GeneDx"[submitter] AND "LOC126806484"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 59163	GRCh38/hg38 2q33.3(chr2:206391900-207078994)x3	ADAM23, CPO +17 more	Copy number gain	See cases	GPathogenic
Select item 2505015	NM_001136193.2(FASTKD2):c.782G>C (p.Arg261Pro)	FASTKD2, LOC126806484 (R261P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 620282	NM_001136193.2(FASTKD2):c.849C>A (p.Cys283Ter)	LOC126806484, FASTKD2 (C283*)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation deficiency 44 +1 more	GPathogenic/Likely pathogenic
Select item 800308	NM_001136193.2(FASTKD2):c.868C>T (p.Arg290Ter)	FASTKD2, LOC126806484 (R290*)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation deficiency 44 +1 more	GPathogenic
Select item 1190094	NM_001136193.2(FASTKD2):c.872C>T (p.Thr291Met)	FASTKD2, LOC126806484 (T291M)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 44 +1 more	GUncertain significance
Select item 1291171	NM_001136193.2(FASTKD2):c.880A>C (p.Arg294=)	FASTKD2, LOC126806484	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1211633	NM_001136193.2(FASTKD2):c.881+260A>G	FASTKD2, LOC126806484	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1177942	NM_001136193.2(FASTKD2):c.881+304C>G	FASTKD2, LOC126806484	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200379	NM_001136193.2(FASTKD2):c.881+321A>T	LOC126806484, FASTKD2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671648	NM_001136193.2(FASTKD2):c.882-312G>T	LOC126806484, FASTKD2	Single nucleotide variant (intron variant)	not provided	GBenign