"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "CLCN5"[gen - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 810599	NM_001127898.4(CLCN5):c.316-17T>G	CLCN5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1398755	NM_001127898.4(CLCN5):c.926G>A (p.Arg309His)	CLCN5 (R239H +2 more)	Single nucleotide variant (missense variant)	X-linked recessive nephrolithiasis with renal failure +4 more	GConflicting classifications of pathogenicity
Select item 368480	NM_001127898.4(CLCN5):c.1244G>A (p.Arg415Gln)	CLCN5 (R345Q +2 more)	Single nucleotide variant (missense variant)	Dent disease +1 more	GBenign/Likely benign
Select item 2499136	NM_001127898.4(CLCN5):c.1773TGT[1] (p.Val593del)	CLCN5, LOC126863258 (V523del +2 more)	Microsatellite (inframe_deletion)	not provided	GPathogenic
Select item 2025822	NM_001127898.4(CLCN5):c.2103T>C (p.Leu701=)	CLCN5, LOC126863258	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 624416	NM_001127898.4(CLCN5):c.2201A>C (p.Glu734Ala)	CLCN5, LOC126863258 (E734A +2 more)	Single nucleotide variant (missense variant)	X-linked recessive nephrolithiasis with renal failure +5 more	GUncertain significance
Select item 368532	NM_001127898.4(CLCN5):c.*6240G>C	CLCN5	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	AWAT2, BCLAF3 +568 more	Copy number gain	not provided	GUncertain significance