ClinVar for Gene (Select 126863258) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370338	NM_001127898.4(CLCN5):c.2129T>G (p.Leu710Arg)	CLCN5, LOC126863258 (L640R +2 more)	Single nucleotide variant (missense variant)	Dent disease type 1	GUncertain significance
Select item 3370333	NM_001127898.4(CLCN5):c.2108G>A (p.Gly703Asp)	LOC126863258, CLCN5 (G633D +2 more)	Single nucleotide variant (missense variant)	Dent disease type 1	GLikely pathogenic
Select item 3348160	NM_001127898.4(CLCN5):c.2360+2T>G	CLCN5, LOC126863258	Single nucleotide variant (splice donor variant)	CLCN5-related disorder	GLikely pathogenic
Select item 3256634	NM_001127898.4(CLCN5):c.1789G>T (p.Glu597Ter)	LOC126863258, CLCN5 (E527* +2 more)	Single nucleotide variant (nonsense)	Dent disease type 1	GLikely pathogenic
Select item 3255104	NM_001127898.4(CLCN5):c.2360+1G>A	CLCN5, LOC126863258	Single nucleotide variant (splice donor variant)	Dent disease type 1	GPathogenic
Select item 3255103	NM_001127898.4(CLCN5):c.2061C>A (p.Tyr687Ter)	CLCN5, LOC126863258 (Y617* +2 more)	Single nucleotide variant (nonsense)	Dent disease type 1	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3234081	NM_001127898.4(CLCN5):c.1975C>T (p.Arg659Trp)	CLCN5, LOC126863258 (R589W +2 more)	Single nucleotide variant (missense variant)	Dent disease type 1	GUncertain significance
Select item 3068699	NM_001127898.4(CLCN5):c.2140A>G (p.Ile714Val)	CLCN5, LOC126863258 (I644V +2 more)	Single nucleotide variant (missense variant)	Dent disease type 1 +1 more	GUncertain significance
Select item 3068204	NM_001127898.4(CLCN5):c.1869dup (p.Arg624fs)	CLCN5, LOC126863258 (R554fs +2 more)	Duplication (frameshift variant)	Dent disease type 1	GLikely pathogenic
Select item 3046440	NM_001127898.4(CLCN5):c.2038A>T (p.Thr680Ser)	CLCN5, LOC126863258 (T610S +2 more)	Single nucleotide variant (missense variant)	CLCN5-related disorder	GUncertain significance
Select item 3002632	NM_001127898.4(CLCN5):c.2203C>T (p.His735Tyr)	CLCN5, LOC126863258 (H735Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995672	NM_001127898.4(CLCN5):c.1881C>A (p.Ile627=)	CLCN5, LOC126863258	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992997	NM_001127898.4(CLCN5):c.2169G>T (p.Gly723=)	CLCN5, LOC126863258	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968407	NM_001127898.4(CLCN5):c.1758G>A (p.Arg586=)	CLCN5, LOC126863258	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2959735	NM_001127898.4(CLCN5):c.1950C>A (p.Thr650=)	CLCN5, LOC126863258	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2866335	NM_001127898.4(CLCN5):c.1889C>A (p.Ala630Asp)	CLCN5, LOC126863258 (A630D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858806	NM_001127898.4(CLCN5):c.2097A>G (p.Gln699=)	CLCN5, LOC126863258	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2825581	NM_001127898.4(CLCN5):c.2234C>G (p.Pro745Arg)	CLCN5, LOC126863258 (P695R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2797100	NM_001127898.4(CLCN5):c.2086C>T (p.Arg696Trp)	CLCN5, LOC126863258 (R646W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2791556	NM_001127898.4(CLCN5):c.1829C>G (p.Ala610Gly)	CLCN5, LOC126863258 (A540G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2752111	NM_001127898.4(CLCN5):c.1788T>C (p.Phe596=)	CLCN5, LOC126863258	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2737232	NM_001127898.4(CLCN5):c.2360+1G>T	CLCN5, LOC126863258	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2737231	NM_001127898.4(CLCN5):c.2095C>T (p.Gln699Ter)	CLCN5, LOC126863258 (Q699* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2737229	NM_001127898.4(CLCN5):c.1748G>A (p.Gly583Glu)	CLCN5, LOC126863258 (G583E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2711357	NM_001127898.4(CLCN5):c.1958T>C (p.Met653Thr)	CLCN5, LOC126863258 (M603T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2635308	NM_001127898.4(CLCN5):c.1933G>T (p.Glu645Ter)	CLCN5, LOC126863258 (E575* +2 more)	Single nucleotide variant (nonsense)	CLCN5-related disorder	GLikely pathogenic
Select item 2631817	NM_001127898.4(CLCN5):c.2341T>C (p.Cys781Arg)	CLCN5, LOC126863258 (C711R +2 more)	Single nucleotide variant (missense variant)	CLCN5-related disorder	GUncertain significance
Select item 2631675	NM_001127898.4(CLCN5):c.1844G>A (p.Ser615Asn)	CLCN5, LOC126863258 (S545N +2 more)	Single nucleotide variant (missense variant)	CLCN5-related disorder	GLikely pathogenic
Select item 2627198	NM_001127898.4(CLCN5):c.2199G>A (p.Thr733=)	CLCN5, LOC126863258	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2606292	NM_001127898.4(CLCN5):c.2221C>T (p.Pro741Ser)	CLCN5, LOC126863258 (P691S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 2444214	NM_001127898.4(CLCN5):c.1745G>A (p.Gly582Asp)	CLCN5, LOC126863258 (G512D +2 more)	Single nucleotide variant (missense variant)	Dent disease type 1	GUncertain significance
Select item 2435722	NM_001127898.4(CLCN5):c.1750del (p.Gly583_Val584insTer)	CLCN5, LOC126863258	Deletion (nonsense)	not provided	GPathogenic
Select item 2295355	NM_001127898.4(CLCN5):c.1873G>A (p.Glu625Lys)	CLCN5, LOC126863258 (E555K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251700	NM_001127898.4(CLCN5):c.2312A>G (p.Asp771Gly)	CLCN5, LOC126863258 (D701G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2184756	NM_001127898.4(CLCN5):c.2143+7A>G	CLCN5, LOC126863258	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2178904	NM_001127898.4(CLCN5):c.1806A>G (p.Leu602=)	CLCN5, LOC126863258	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2170283	NM_001127898.4(CLCN5):c.2131A>G (p.Ile711Val)	CLCN5, LOC126863258 (I641V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2138099	NM_001127898.4(CLCN5):c.1942C>T (p.His648Tyr)	CLCN5, LOC126863258 (H578Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2080805	NM_001127898.4(CLCN5):c.2090del (p.Glu697fs)	CLCN5, LOC126863258 (E697fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2080803	NM_001127898.4(CLCN5):c.2088G>T (p.Arg696=)	CLCN5, LOC126863258	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2066756	NM_001127898.4(CLCN5):c.1745-5T>C	LOC126863258, CLCN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1991273	NM_001127898.4(CLCN5):c.2144-16C>T	CLCN5, LOC126863258	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1991272	NM_001127898.4(CLCN5):c.2144-17_2144-16insA	CLCN5, LOC126863258	Insertion (intron variant)	not provided	GBenign
Select item 1989004	NM_001127898.4(CLCN5):c.2358C>T (p.Asn786=)	CLCN5, LOC126863258	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1981987	NM_001127898.4(CLCN5):c.2153G>A (p.Arg718Gln)	CLCN5, LOC126863258 (R718Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1936059	NM_001127898.4(CLCN5):c.2196C>T (p.Phe732=)	CLCN5, LOC126863258	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1913276	NM_001127898.4(CLCN5):c.2249G>A (p.Arg750Gln)	CLCN5, LOC126863258 (R750Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910509	NM_001127898.4(CLCN5):c.1976G>A (p.Arg659Gln)	CLCN5, LOC126863258 (R589Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1903092	NM_001127898.4(CLCN5):c.1898G>A (p.Arg633His)	CLCN5, LOC126863258 (R633H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1687338	NM_001127898.4(CLCN5):c.2060dup (p.Tyr687Ter)	CLCN5, LOC126863258 (Y617* +2 more)	Duplication (nonsense)	Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis	GLikely pathogenic
Select item 1686573	NM_001127898.4(CLCN5):c.2168G>C (p.Gly723Ala)	CLCN5, LOC126863258 (G653A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1641436	NM_001127898.4(CLCN5):c.2007T>C (p.Thr669=)	CLCN5, LOC126863258	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1552561	NM_001127898.4(CLCN5):c.1815C>T (p.Ile605=)	CLCN5, LOC126863258	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1424968	NM_001127898.4(CLCN5):c.2188A>G (p.Ile730Val)	CLCN5, LOC126863258 (I660V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 1419029	NM_001127898.4(CLCN5):c.2297del (p.Met766fs)	CLCN5, LOC126863258 (M696fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1344667	NM_001127898.4(CLCN5):c.1938del (p.Phe646fs)	CLCN5, LOC126863258 (F576fs +2 more)	Deletion (frameshift variant)	Dent disease type 1	GLikely pathogenic
Select item 1282300	NM_001127898.4(CLCN5):c.2144-60G>A	CLCN5, LOC126863258	Single nucleotide variant (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 1026717	NM_001127898.4(CLCN5):c.2087G>A (p.Arg696Gln)	CLCN5, LOC126863258 (R626Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 976286	NM_001127898.4(CLCN5):c.2342G>C (p.Cys781Ser)	CLCN5, LOC126863258 (C711S +2 more)	Single nucleotide variant (missense variant)	Dent disease type 1 +3 more	GUncertain significance
Select item 973833	NM_001127898.4(CLCN5):c.1810T>A (p.Tyr604Asn)	CLCN5, LOC126863258 (Y534N +2 more)	Single nucleotide variant (missense variant)	Dent disease type 1	GPathogenic
Select item 965079	NM_001127898.4(CLCN5):c.2198C>T (p.Thr733Met)	CLCN5, LOC126863258 (T683M +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 950001	NM_001127898.4(CLCN5):c.1917T>G (p.Phe639Leu)	CLCN5, LOC126863258 (F639L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 932946	NM_001127898.4(CLCN5):c.2236del (p.Thr746fs)	CLCN5, LOC126863258 (T676fs +2 more)	Deletion (frameshift variant)	Dent disease type 1	GPathogenic
Select item 932943	NM_001127898.4(CLCN5):c.1771_1772del (p.Leu591fs)	CLCN5, LOC126863258 (L591fs +2 more)	Microsatellite (frameshift variant)	Dent disease type 1	GPathogenic
Select item 932731	NM_001127898.4(CLCN5):c.1768dup (p.Ser590fs)	CLCN5, LOC126863258 (S520fs +2 more)	Duplication (frameshift variant)	Dent disease type 1	GPathogenic
Select item 930899	NM_001127898.4(CLCN5):c.2197A>G (p.Thr733Ala)	CLCN5, LOC126863258 (T683A +2 more)	Single nucleotide variant (missense variant)	X-linked recessive nephrolithiasis with renal failure	GUncertain significance
Select item 930215	NM_001127898.4(CLCN5):c.1851G>T (p.Trp617Cys)	CLCN5, LOC126863258 (W567C +2 more)	Single nucleotide variant (missense variant)	Dent disease type 1	GPathogenic
Select item 914836	NM_001127898.4(CLCN5):c.1872G>A (p.Arg624=)	CLCN5, LOC126863258	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 912880	NM_001127898.4(CLCN5):c.2293C>T (p.Pro765Ser)	CLCN5, LOC126863258 (P715S +2 more)	Single nucleotide variant (missense variant)	Dent disease type 1	GUncertain significance
Select item 851548	NM_001127898.4(CLCN5):c.2143_2143+10del	CLCN5, LOC126863258	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 758735	NM_001127898.4(CLCN5):c.1852G>A (p.Val618Met)	CLCN5, LOC126863258 (V548M +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 730639	NM_001127898.4(CLCN5):c.2180C>G (p.Thr727Ser)	CLCN5, LOC126863258 (T677S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 636952	NM_001127898.4(CLCN5):c.1745G>T (p.Gly582Val)	CLCN5, LOC126863258 (G512V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 624416	NM_001127898.4(CLCN5):c.2201A>C (p.Glu734Ala)	CLCN5, LOC126863258 (E734A +2 more)	Single nucleotide variant (missense variant)	Hypophosphatemic rickets, X-linked recessive +5 more	GUncertain significance
Select item 591160	NM_001127898.4(CLCN5):c.2261A>G (p.Asp754Gly)	CLCN5, LOC126863258 (D754G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 562382	NM_001127898.4(CLCN5):c.2116C>T (p.Leu706Phe)	CLCN5, LOC126863258 (L706F +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 488014	Single allele	ARSF, CFAP47 +2632 more	Duplication	Autism +1 more	GPathogenic
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 368487	NM_001127898.4(CLCN5):c.2305G>A (p.Val769Ile)	CLCN5, LOC126863258 (V699I +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	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 368485	NM_001127898.4(CLCN5):c.1816G>A (p.Val606Met)	CLCN5, LOC126863258 (V606M +2 more)	Single nucleotide variant (missense variant)	Dent disease type 1 +1 more	GConflicting classifications of pathogenicity
Select item 282651	NM_001127898.4(CLCN5):c.2321G>A (p.Arg774Gln)	CLCN5, LOC126863258 (R704Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 208005	NC_000023.11:g.(?_49922616)_(50099235_?)del	MIR501, MIR502 +9 more	Deletion	Dent disease type 1	GPathogenic
Select item 208004	NC_000023.11:g.(?_49922616)_(50099235_?)del	LOC130068287, MIR188 +9 more	Deletion	Dent disease type 1	GPathogenic
Select item 208003	NC_000023.11:g.(?_49922616)_(50099235_?)del	MIR500A, CLCN5 +9 more	Deletion	Dent disease type 1	GPathogenic
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 207998	NM_001127898.4(CLCN5):c.1756C>T (p.Arg586Trp)	CLCN5, LOC126863258 (R516W +2 more)	Single nucleotide variant (missense variant)	Dent disease type 1	GLikely pathogenic
Select item 161091	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	ABCB7, ABCD1 +2632 more	Copy number gain	See cases	GPathogenic
Select item 161089	GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	ABCB7, ABCD1 +2633 more	Copy number loss	See cases	GPathogenic
Select item 161088	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	VAMP7, VBP1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 160983	GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	LOC130067918, LOC130067919 +2633 more	Copy number loss	See cases	GPathogenic
Select item 160897	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	LOC130068528, LOC130068529 +2634 more	Copy number gain	See cases	GPathogenic
Select item 160890	GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	ARMCX5, ARMCX5-GPRASP2 +2634 more	Copy number loss	See cases	GPathogenic
Select item 155374	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	FUNDC1, FUNDC2 +2633 more	Copy number loss	See cases	GPathogenic
Select item 155366	GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	LOC126863244, LOC126863245 +2633 more	Copy number gain	See cases	GPathogenic

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