CLCN3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	LOC126807210, LOC126807211 +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC126807213, LOC126807214 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132089068, LOC132089069 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC126807202, LOC126807203 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	LOC129993194, LOC129993195 +903 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 153493	GRCh38/hg38 4q32.1-33(chr4:155162982-170959553)x1	AADAT, ANP32C +243 more	Copy number loss	See cases	GPathogenic
Select item 152441	GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3	AADAT, ACSL1 +553 more	Copy number gain	See cases	GPathogenic
Select item 57053	GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3	LOC129993418, LOC129993419 +535 more	Copy number gain	See cases	GPathogenic
Select item 59484	GRCh38/hg38 4q32.2-34.1(chr4:162723818-172501433)x1	AADAT, ANP32C +158 more	Copy number loss	See cases	GPathogenic
Select item 59505	GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1	LOC126807277, LOC126807278 +509 more	Copy number loss	See cases	GPathogenic
Select item 151716	GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1	AADAT, ACSL1 +485 more	Copy number loss	See cases	GPathogenic
Select item 148458	GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1	AADAT, ACSL1 +466 more	Copy number loss	See cases	GPathogenic
Select item 153168	GRCh38/hg38 4q32.3-34.3(chr4:166630207-179820960)	AADAT, ADAM29 +178 more	Copy number loss	See cases	GPathogenic
Select item 153653	GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1	LOC441052, LRP2BP +455 more	Copy number loss	See cases	GPathogenic
Select item 155164	GRCh38/hg38 4q32.3-33(chr4:167469096-170889588)x3	AADAT, ANXA10 +69 more	Copy number gain	See cases	GUncertain significance
Select item 155264	GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3	SAP30-DT, SCRG1 +451 more	Copy number gain	See cases	GPathogenic
Select item 155558	GRCh38/hg38 4q32.3-33(chr4:168140014-170186711)x3	AADAT, ANXA10 +58 more	Copy number gain	See cases	GLikely pathogenic
Select item 154300	GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1	LOC129993473, LOC129993474 +386 more	Copy number loss	See cases	GPathogenic
Select item 151731	GRCh38/hg38 4q33(chr4:169564250-169627295)x3	CLCN3, LOC129993366 +6 more	Copy number gain	See cases	GUncertain significance
Select item 521812	NM_001829.4(CLCN3):c.32A>G (p.Tyr11Cys)	CLCN3 (Y11C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1723818	NM_001829.4(CLCN3):c.98G>T (p.Gly33Val)	CLCN3 (G33V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2315508	NM_001829.4(CLCN3):c.110A>G (p.Asp37Gly)	CLCN3 (D37G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2440128	NM_001829.4(CLCN3):c.160+21300G>T	CLCN3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3235081	NM_001829.4(CLCN3):c.171T>A (p.Tyr57Ter)	CLCN3 (Y30* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with hypotonia and brain abnormalities	GUncertain significance
Select item 1192286	NM_001829.4(CLCN3):c.254A>G (p.Tyr85Cys)	CLCN3 (Y58C +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and brain abnormalities	GLikely pathogenic
Select item 2577679	NM_001829.4(CLCN3):c.256G>T (p.Asp86Tyr)	CLCN3 (D59Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806824	NM_001829.4(CLCN3):c.318+3_318+6del	CLCN3	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 1192292	NM_001829.4(CLCN3):c.336_339del (p.Lys112fs)	CLCN3 (K112fs +1 more)	Microsatellite (frameshift variant)	Neurodevelopmental disorder with seizures and brain abnormalities +1 more	GPathogenic
Select item 2440129	NM_001829.4(CLCN3):c.336del (p.Glu113fs)	CLCN3 (E113fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1687210	NM_001829.4(CLCN3):c.466C>G (p.Leu156Val)	CLCN3 (L129V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and brain abnormalities	GUncertain significance
Select item 1687158	NM_001829.4(CLCN3):c.491C>T (p.Ala164Val)	CLCN3 (A137V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and brain abnormalities	GUncertain significance
Select item 2655184	NM_001829.4(CLCN3):c.540A>T (p.Thr180=)	CLCN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2633742	NM_001829.4(CLCN3):c.556A>G (p.Lys186Glu)	CLCN3 (K159E +1 more)	Single nucleotide variant (missense variant)	CLCN3-related disorder	GUncertain significance
Select item 1703268	NM_001829.4(CLCN3):c.562C>T (p.Pro188Ser)	CLCN3 (P161S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2257516	NM_001829.4(CLCN3):c.601G>A (p.Ala201Thr)	CLCN3 (A201T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617646	NM_001829.4(CLCN3):c.607-2A>C	CLCN3	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GUncertain significance
Select item 2297158	NM_001829.4(CLCN3):c.619T>G (p.Tyr207Asp)	CLCN3 (Y180D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145418	NM_001829.4(CLCN3):c.620A>G (p.Tyr207Cys)	CLCN3 (Y180C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1693300	NM_001829.4(CLCN3):c.635T>A (p.Ile212Lys)	CLCN3 (I185K +1 more)	Single nucleotide variant (missense variant)	CLCN3-related neurodevelopmental disorders	GUncertain significance
Select item 2440125	NM_001829.4(CLCN3):c.661T>C (p.Phe221Leu)	CLCN3 (F194L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995566	NM_001829.4(CLCN3):c.755T>C (p.Ile252Thr)	CLCN3 (I225T +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and brain abnormalities	GLikely pathogenic
Select item 2632869	NM_001829.4(CLCN3):c.824C>T (p.Ser275Leu)	CLCN3 (S248L +1 more)	Single nucleotide variant (missense variant)	CLCN3-related disorder	GUncertain significance
Select item 3066106	NM_001829.4(CLCN3):c.866C>A (p.Ala289Asp)	CLCN3 (A262D +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and brain abnormalities	GUncertain significance
Select item 2655185	NM_001829.4(CLCN3):c.928A>G (p.Lys310Glu)	CLCN3 (K283E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1192288	NM_001829.4(CLCN3):c.971T>C (p.Val324Ala)	CLCN3 (V297A +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with hypotonia and brain abnormalities	GLikely pathogenic
Select item 2429505	NM_001829.4(CLCN3):c.1026T>A (p.Tyr342Ter)	CLCN3 (Y315* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2326044	NM_001829.4(CLCN3):c.1040A>G (p.Lys347Arg)	CLCN3 (K320R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1333367	NM_001829.4(CLCN3):c.1100A>G (p.Asn367Ser)	CLCN3 (N340S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and brain abnormalities	GUncertain significance
Select item 2572465	NM_001829.4(CLCN3):c.1109G>A (p.Gly370Asp)	CLCN3 (G343D +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and brain abnormalities	GUncertain significance
Select item 3054093	NM_001829.4(CLCN3):c.1228G>A (p.Ala410Thr)	CLCN3 (A383T +1 more)	Single nucleotide variant (missense variant)	CLCN3-related disorder	GUncertain significance
Select item 2412899	NM_001829.4(CLCN3):c.1229C>G (p.Ala410Gly)	CLCN3 (A383G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1192289	NM_001829.4(CLCN3):c.1238C>T (p.Ala413Val)	CLCN3 (A386V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and brain abnormalities	GUncertain significance
Select item 3054373	NM_001829.4(CLCN3):c.1247G>A (p.Arg416His)	CLCN3 (R389H +1 more)	Single nucleotide variant (missense variant)	CLCN3-related disorder	GLikely benign
Select item 2442567	NM_001829.4(CLCN3):c.1252C>T (p.Arg418Cys)	CLCN3 (R391C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2265057	NM_001829.4(CLCN3):c.1253G>C (p.Arg418Pro)	CLCN3 (R391P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145414	NM_001829.4(CLCN3):c.1262C>T (p.Thr421Met)	CLCN3 (T394M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145415	NM_001829.4(CLCN3):c.1304C>T (p.Ala435Val)	CLCN3 (A435V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1192287	NM_001829.4(CLCN3):c.1357A>C (p.Ser453Arg)	CLCN3 (S426R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and brain abnormalities	GLikely pathogenic
Select item 986034	NM_001829.4(CLCN3):c.1358G>T (p.Ser453Ile)	CLCN3 (S426I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2635295	NM_001829.4(CLCN3):c.1441A>G (p.Ser481Gly)	CLCN3 (S454G +1 more)	Single nucleotide variant (missense variant)	CLCN3-related disorder	GUncertain significance
Select item 2440124	NM_001829.4(CLCN3):c.1453G>A (p.Asp485Asn)	CLCN3 (D458N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2207296	NM_001829.4(CLCN3):c.1459A>G (p.Ile487Val)	CLCN3 (I460V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1949235	NM_001829.4(CLCN3):c.1462C>G (p.Pro488Ala)	CLCN3 (P461A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446197	NM_001829.4(CLCN3):c.1471C>A (p.Pro491Thr)	CLCN3 (P464T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571675	NM_001829.4(CLCN3):c.1472C>T (p.Pro491Leu)	CLCN3 (P464L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505192	NM_001829.4(CLCN3):c.1486G>A (p.Val496Ile)	CLCN3 (V469I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2603956	NM_001829.4(CLCN3):c.1533C>G (p.Ile511Met)	CLCN3 (I484M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494752	NM_001829.4(CLCN3):c.1538T>C (p.Met513Thr)	CLCN3 (M486T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2104448	NM_001829.4(CLCN3):c.1540A>T (p.Thr514Ser)	CLCN3 (T514S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2290091	NM_001829.4(CLCN3):c.1660G>A (p.Asp554Asn)	CLCN3 (D527N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472999	NM_001829.4(CLCN3):c.1665G>C (p.Trp555Cys)	CLCN3 (W555C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 929948	NM_001829.4(CLCN3):c.1709C>T (p.Thr570Ile)	CLCN3 (T543I +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and brain abnormalities +1 more	GLikely pathogenic
Select item 1699888	NM_001829.4(CLCN3):c.1750+1G>A	CLCN3	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2655186	NM_001829.4(CLCN3):c.1779G>A (p.Leu593=)	CLCN3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2574683	NM_001829.4(CLCN3):c.1819A>G (p.Ile607Val)	CLCN3 (I580V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and brain abnormalities	GLikely pathogenic
Select item 1192290	NM_001829.4(CLCN3):c.1820T>C (p.Ile607Thr)	CLCN3 (I580T +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and brain abnormalities	GLikely pathogenic
Select item 1956231	NM_001829.4(CLCN3):c.1940A>G (p.Glu647Gly)	CLCN3 (E620G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3145417	NM_001829.4(CLCN3):c.1948C>T (p.His650Tyr)	CLCN3 (H623Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2575062	NM_001829.4(CLCN3):c.1949A>G (p.His650Arg)	CLCN3 (H623R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and brain abnormalities	GUncertain significance
Select item 2571618	NM_001829.4(CLCN3):c.2033A>C (p.Asp678Ala)	CLCN3 (D651A +1 more)	Single nucleotide variant (missense variant)	Autism, susceptiblity to	GPathogenic
Select item 2507674	NM_001829.4(CLCN3):c.2179G>A (p.Val727Ile)	CLCN3 (V700I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319572	NM_001829.4(CLCN3):c.2192G>A (p.Arg731Gln)	CLCN3 (R731Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2692511	NM_001829.4(CLCN3):c.2219C>T (p.Ser740Phe)	CLCN3 (S713F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442581	NM_001829.4(CLCN3):c.2259C>G (p.Ser753Arg)	CLCN3 (S726R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710353	NM_001829.4(CLCN3):c.2262del (p.Asp756fs)	CLCN3 (D729fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2261532	NM_001829.4(CLCN3):c.2296A>G (p.Thr766Ala)	CLCN3 (T739A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 375644	NM_001829.4(CLCN3):c.2302A>G (p.Met768Val)	CLCN3 (M741V +1 more)	Single nucleotide variant (missense variant)	Progressive sensorineural hearing impairment	GUncertain significance
Select item 1294491	NM_001829.4(CLCN3):c.2310C>T (p.Ile770=)	CLCN3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1192291	NM_001829.4(CLCN3):c.2315T>C (p.Val772Ala)	CLCN3 (V745A +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and brain abnormalities	GLikely pathogenic
Select item 2692340	NM_001829.4(CLCN3):c.2333T>G (p.Leu778Arg)	CLCN3 (L751R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and brain abnormalities	GUncertain significance
Select item 3061165	NM_001829.4(CLCN3):c.2343G>A (p.Arg781=)	CLCN3	Single nucleotide variant (synonymous variant)	CLCN3-related disorder	GLikely benign
Select item 3036288	NM_001829.4(CLCN3):c.2366+1G>T	CLCN3	Single nucleotide variant (splice donor variant)	CLCN3-related disorder	GUncertain significance
Select item 2655187	NM_001829.4(CLCN3):c.2367-2094A>T	CLCN3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2440126	NM_001829.4(CLCN3):c.2367-2092A>G	CLCN3 (K797R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2655188	NM_001829.4(CLCN3):c.2421G>A (p.Thr807=)	CLCN3 (G833S)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3061061	NM_001829.4(CLCN3):c.*55G>A	CLCN3 (S863N)	Single nucleotide variant (3 prime UTR variant +1 more)	CLCN3-related disorder	GUncertain significance
Select item 3233975	NC_000004.11:g.(170557240_170601200)_(170644825_?)del	CLCN3	Deletion	not specified	GUncertain significance

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