"GeneDx"[submitter] AND "LOC126863258"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58615	GRCh38/hg38 Xp11.23-11.22(chrX:47859417-52789530)x3	AKAP4, BMP15 +213 more	Copy number gain	See cases	GPathogenic
Select item 1218210	NM_001127898.4(CLCN5):c.1745-159G>A	CLCN5, LOC126863258	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 429927	NM_001127898.4(CLCN5):c.1796C>T (p.Thr599Ile)	CLCN5, LOC126863258 (T529I +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 64374	NM_001127898.4(CLCN5):c.1828G>A (p.Ala610Thr)	CLCN5, LOC126863258 (A610T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 368486	NM_001127898.4(CLCN5):c.1914C>T (p.Pro638=)	CLCN5, LOC126863258	Single nucleotide variant (synonymous variant)	Dent disease +2 more	GBenign
Select item 207999	NM_001127898.4(CLCN5):c.2119C>T (p.Arg707Ter)	CLCN5, LOC126863258 (R637* +2 more)	Single nucleotide variant (nonsense)	Dent disease +5 more	GPathogenic
Select item 1282300	NM_001127898.4(CLCN5):c.2144-60G>A	CLCN5, LOC126863258	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 503836	NM_001127898.4(CLCN5):c.2283_2286del (p.Asp762fs)	CLCN5, LOC126863258 (D762fs +2 more)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic

ClinVar