CLCN4[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1303922	NM_001830.4(CLCN4):c.-12+5G>T	CLCN4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 489100	NM_001830.4(CLCN4):c.1A>G (p.Met1Val)	CLCN4 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 625920	NM_001830.4(CLCN4):c.10G>T (p.Ala4Ser)	CLCN4 (A4S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 853173	NM_001830.4(CLCN4):c.11C>T (p.Ala4Val)	CLCN4 (A4V)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 49 +1 more	GUncertain significance
Select item 760639	NM_001830.4(CLCN4):c.12G>A (p.Ala4=)	CLCN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1002663	NM_001830.4(CLCN4):c.16G>A (p.Ala6Thr)	CLCN4 (A6T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1959359	NM_001830.4(CLCN4):c.17C>T (p.Ala6Val)	CLCN4 (A6V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 699525	NM_001830.4(CLCN4):c.18G>A (p.Ala6=)	CLCN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1686771	NM_001830.4(CLCN4):c.21G>A (p.Met7Ile)	CLCN4 (M7I)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2747794	NM_001830.4(CLCN4):c.37C>A (p.Leu13Met)	CLCN4 (L13M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 253112	NM_001830.4(CLCN4):c.43_55del (p.Asp15fs)	CLCN4 (D15fs)	Deletion (frameshift variant +1 more)	Intellectual disability, X-linked 49	GPathogenic
Select item 2096319	NM_001830.4(CLCN4):c.42G>T (p.Met14Ile)	CLCN4 (M14I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 224910	NM_001830.4(CLCN4):c.43G>A (p.Asp15Asn)	CLCN4 (D15N)	Single nucleotide variant (missense variant +1 more)	CLCN4-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1143102	NM_001830.4(CLCN4):c.44A>T (p.Asp15Val)	CLCN4 (D15V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1949878	NM_001830.4(CLCN4):c.51C>G (p.Leu17=)	CLCN4	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1165880	NM_001830.4(CLCN4):c.51C>T (p.Leu17=)	CLCN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2804552	NM_001830.4(CLCN4):c.59C>T (p.Pro20Leu)	CLCN4 (P20L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 810499	NM_001830.4(CLCN4):c.59C>A (p.Pro20Gln)	CLCN4 (P20Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2075709	NM_001830.4(CLCN4):c.60G>A (p.Pro20=)	CLCN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1462720	NM_001830.4(CLCN4):c.64C>G (p.Pro22Ala)	CLCN4 (P22A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2772768	NM_001830.4(CLCN4):c.72G>A (p.Val24=)	CLCN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 697048	NM_001830.4(CLCN4):c.78G>A (p.Thr26=)	CLCN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1691407	NM_001830.4(CLCN4):c.87C>G (p.Asp29Glu)	CLCN4 (D29E)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 49	GUncertain significance
Select item 1691405	NM_001830.4(CLCN4):c.100G>A (p.Asp34Asn)	CLCN4 (D34N)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 49	GUncertain significance
Select item 753856	NM_001830.4(CLCN4):c.108A>G (p.Leu36=)	CLCN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1679299	NM_001830.4(CLCN4):c.112G>T (p.Glu38Ter)	CLCN4 (E38*)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, X-linked 49	GPathogenic
Select item 1451039	NM_001830.4(CLCN4):c.121C>T (p.Arg41Trp)	CLCN4 (R41W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1020111	NM_001830.4(CLCN4):c.122G>A (p.Arg41Gln)	CLCN4 (R41Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 988758	NM_001830.4(CLCN4):c.130G>A (p.Asp44Asn)	CLCN4 (D44N)	Single nucleotide variant (intron variant +1 more)	Intellectual disability, X-linked 49	GUncertain significance
Select item 1579099	NM_001830.4(CLCN4):c.138C>T (p.His46=)	CLCN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 390250	NM_001830.4(CLCN4):c.144+6T>A	CLCN4	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1554617	NM_001830.4(CLCN4):c.144+7G>A	CLCN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1569531	NM_001830.4(CLCN4):c.144+11T>A	CLCN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2048604	NM_001830.4(CLCN4):c.144+14C>T	CLCN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2772740	NM_001830.4(CLCN4):c.144+15G>A	CLCN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232504	NM_001830.4(CLCN4):c.144+158A>G	CLCN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292602	NM_001830.4(CLCN4):c.145-172G>A	CLCN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189578	NM_001830.4(CLCN4):c.145-42G>A	CLCN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1654888	NM_001830.4(CLCN4):c.145-16del	CLCN4	Deletion (intron variant)	not provided	GLikely benign
Select item 1985227	NM_001830.4(CLCN4):c.145-11C>T	CLCN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 695408	NM_001830.4(CLCN4):c.145-4C>A	CLCN4	Single nucleotide variant (intron variant)	CLCN4-related disorder +1 more	GBenign/Likely benign
Select item 1005113	NM_001830.4(CLCN4):c.159C>A (p.Ser53Arg)	CLCN4 (S53R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1715184	NM_001830.4(CLCN4):c.163G>C (p.Glu55Gln)	CLCN4 (E55Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 741941	NM_001830.4(CLCN4):c.165G>A (p.Glu55=)	CLCN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1202035	NM_001830.4(CLCN4):c.177G>A (p.Glu59=)	CLCN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1001824	NM_001830.4(CLCN4):c.181A>C (p.Ile61Leu)	CLCN4 (I61L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1691393	NM_001830.4(CLCN4):c.185A>G (p.Lys62Arg)	CLCN4 (K62R)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 49	GUncertain significance
Select item 2572910	NM_001830.4(CLCN4):c.199G>T (p.Ala67Ser)	CLCN4 (A67S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1691406	NM_001830.4(CLCN4):c.206C>T (p.Ser69Leu)	CLCN4 (S69L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1120607	NM_001830.4(CLCN4):c.207G>A (p.Ser69=)	CLCN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2440130	NM_001830.4(CLCN4):c.209G>T (p.Gly70Val)	CLCN4 (G70V)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 49	GUncertain significance
Select item 1143818	NM_001830.4(CLCN4):c.210A>T (p.Gly70=)	CLCN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1668555	NM_001830.4(CLCN4):c.223C>T (p.Leu75=)	CLCN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2780692	NM_001830.4(CLCN4):c.228C>T (p.Leu76=)	CLCN4	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 697917	NM_001830.4(CLCN4):c.231C>T (p.Ile77=)	CLCN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 253114	NM_001830.4(CLCN4):c.232G>A (p.Gly78Ser)	CLCN4 (G78S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1608375	NM_001830.4(CLCN4):c.234C>T (p.Gly78=)	CLCN4	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2191707	NM_001830.4(CLCN4):c.243G>A (p.Ala81=)	CLCN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 415733	NM_001830.4(CLCN4):c.244+4C>G	CLCN4	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 210734	NM_001830.4(CLCN4):c.244+4C>T	CLCN4	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 647504	NM_001830.4(CLCN4):c.244+5G>A	CLCN4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2772714	NM_001830.4(CLCN4):c.244+18C>A	CLCN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1599821	NM_001830.4(CLCN4):c.244+18C>T	CLCN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2896440	NM_001830.4(CLCN4):c.244+19G>A	CLCN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179449	NM_001830.4(CLCN4):c.245-289A>G	CLCN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1548627	NM_001830.4(CLCN4):c.245-19C>G	CLCN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2019488	NM_001830.4(CLCN4):c.245-17C>G	CLCN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1575292	NM_001830.4(CLCN4):c.245-17C>T	CLCN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2835683	NM_001830.4(CLCN4):c.245-16G>C	CLCN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2742047	NM_001830.4(CLCN4):c.245-16G>A	CLCN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1091340	NM_001830.4(CLCN4):c.245-6T>C	CLCN4	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2792474	NM_001830.4(CLCN4):c.245-4C>A	CLCN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1646198	NM_001830.4(CLCN4):c.258G>A (p.Gly86=)	CLCN4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 696265	NM_001830.4(CLCN4):c.264C>T (p.Ile88=)	CLCN4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign/Likely benign
Select item 420269	NM_001830.4(CLCN4):c.265G>A (p.Asp89Asn)	CLCN4 (D89N)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 703185	NM_001830.4(CLCN4):c.270C>T (p.Leu90=)	CLCN4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1704151	NM_001830.4(CLCN4):c.271G>A (p.Ala91Thr)	CLCN4 (A91T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1167209	NM_001830.4(CLCN4):c.273C>T (p.Ala91=)	CLCN4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign/Likely benign
Select item 633573	NM_001830.4(CLCN4):c.274G>A (p.Val92Met)	CLCN4 (V92M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2813004	NM_001830.4(CLCN4):c.280T>C (p.Trp94Arg)	CLCN4 (W94R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2750923	NM_001830.4(CLCN4):c.287C>T (p.Thr96Met)	CLCN4 (T2M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2749556	NM_001830.4(CLCN4):c.288G>T (p.Thr96=)	CLCN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 415737	NM_001830.4(CLCN4):c.288G>A (p.Thr96=)	CLCN4	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2579087	NM_001830.4(CLCN4):c.299A>C (p.Glu100Ala)	CLCN4 (E100A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 953692	NM_001830.4(CLCN4):c.304G>T (p.Val102Phe)	CLCN4 (V102F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 759319	NM_001830.4(CLCN4):c.306C>G (p.Val102=)	CLCN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 409642	NM_001830.4(CLCN4):c.314C>G (p.Ser105Cys)	CLCN4 (S105C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2861773	NM_001830.4(CLCN4):c.337_338insTTAGCCATGAGC (p.Glu112_Gln113insLeuSerHisGlu)	CLCN4	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 2709111	NM_001830.4(CLCN4):c.339G>A (p.Gln113=)	CLCN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 948087	NM_001830.4(CLCN4):c.340T>C (p.Cys114Arg)	CLCN4 (C114R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1170225	NM_001830.4(CLCN4):c.357C>T (p.Asn119=)	CLCN4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 696913	NM_001830.4(CLCN4):c.363C>G (p.Thr121=)	CLCN4	Single nucleotide variant (synonymous variant)	CLCN4-related disorder +1 more	GLikely benign
Select item 1211874	NM_001830.4(CLCN4):c.365C>A (p.Thr122Asn)	CLCN4 (T122N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 976142	NM_001830.4(CLCN4):c.373del (p.Asp125fs)	CLCN4 (D125fs +1 more)	Deletion (frameshift variant)	Intellectual disability, X-linked 49	GLikely pathogenic
Select item 2102510	NM_001830.4(CLCN4):c.385T>C (p.Cys129Arg)	CLCN4 (C129R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504926	NM_001830.4(CLCN4):c.407C>T (p.Ser136Leu)	CLCN4 (S136L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1532298	NM_001830.4(CLCN4):c.408G>A (p.Ser136=)	CLCN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1207946	NM_001830.4(CLCN4):c.409G>A (p.Glu137Lys)	CLCN4 (E137K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 847903	NM_001830.4(CLCN4):c.419T>C (p.Val140Ala)	CLCN4 (V140A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1719141	NM_001830.4(CLCN4):c.426G>T (p.Gln142His)	CLCN4 (Q142H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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