"GeneDx"[submitter] AND "CLCN5"[gene] - ClinVar

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Items: 51

	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 1215662	NM_001127898.4(CLCN5):c.17-55G>A	CLCN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269710	NM_001127898.4(CLCN5):c.108C>T (p.Thr36=)	CLCN5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1245383	NM_001127898.4(CLCN5):c.164-252C>G	CLCN5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 488682	NM_001127898.4(CLCN5):c.292C>T (p.Arg98Ter)	CLCN5 (R28* +2 more)	Single nucleotide variant (nonsense)	Hypophosphatemic rickets, X-linked recessive +4 more	GPathogenic/Likely pathogenic
Select item 1223211	NM_001127898.4(CLCN5):c.316-294G>T	CLCN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249289	NM_001127898.4(CLCN5):c.316-201dup	CLCN5	Duplication (intron variant)	not provided	GBenign
Select item 1286228	NM_001127898.4(CLCN5):c.416-152A>G	CLCN5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 368473	NM_001127898.4(CLCN5):c.416-6A>T	CLCN5	Single nucleotide variant (intron variant)	Dent disease type 1 +1 more	GBenign
Select item 1245380	NM_001127898.4(CLCN5):c.603+242A>G	CLCN5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 368474	NM_001127898.4(CLCN5):c.636G>A (p.Met212Ile)	CLCN5 (M212I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 368476	NM_001127898.4(CLCN5):c.819= (p.Ser273=)	CLCN5	Single nucleotide variant (no sequence alteration)	not provided +1 more	GBenign/Likely benign
Select item 817241	NM_001127898.4(CLCN5):c.845del (p.Gly282fs)	CLCN5 (G232fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
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 11802	NM_001127898.4(CLCN5):c.941C>T (p.Ser314Leu)	CLCN5 (S244L +2 more)	Single nucleotide variant (missense variant)	Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis +5 more	GPathogenic
Select item 2430793	NM_001127898.4(CLCN5):c.1141C>T (p.His381Tyr)	CLCN5 (H311Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 368478	NM_001127898.4(CLCN5):c.1203G>C (p.Leu401=)	CLCN5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 207996	NM_001127898.4(CLCN5):c.1249C>T (p.Arg417Ter)	CLCN5 (R347* +2 more)	Single nucleotide variant (nonsense)	Dent disease type 1 +1 more	GPathogenic
Select item 368482	NM_001127898.4(CLCN5):c.1422G>A (p.Glu474=)	CLCN5	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 1237415	NM_001127898.4(CLCN5):c.1557+77A>G	CLCN5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 368484	NM_001127898.4(CLCN5):c.1558-14G>C	CLCN5	Single nucleotide variant (intron variant)	Dent disease +1 more	GBenign
Select item 429605	NM_001127898.4(CLCN5):c.1607G>T (p.Gly536Val)	CLCN5 (G466V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 207997	NM_001127898.4(CLCN5):c.1609C>T (p.Arg537Ter)	CLCN5 (R467* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1309466	NM_001127898.4(CLCN5):c.1674C>G (p.Ser558Arg)	CLCN5 (S488R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1286134	NM_001127898.4(CLCN5):c.1744+216CT[3]	CLCN5	Microsatellite (intron variant)	not provided	GBenign
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)	not provided +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
Select item 1226010	NM_001127898.4(CLCN5):c.2361-238C>T	CLCN5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280688	NM_001127898.4(CLCN5):c.2361-154G>C	CLCN5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196670	NM_001127898.4(CLCN5):c.2361-67C>T	CLCN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253615	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	ACE2, ACOT9 +316 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253571	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1	ACE2, ACOT9 +316 more	Copy number loss	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253436	GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3	ABCB7, AKAP4 +250 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic

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Items: 51