"GeneDx"[submitter] AND "LOC106501713"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 58056	GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3	LOC129929515, LOC129929516 +211 more	Copy number gain	See cases	GPathogenic
Select item 1206648	NM_000085.5(CLCNKB):c.100+195G>A	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287171	NM_000085.5(CLCNKB):c.101-181C>G	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183407	NM_000085.5(CLCNKB):c.101-121A>C	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209775	NM_000085.5(CLCNKB):c.101-50G>C	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	Bartter disease type 3 +2 more	GBenign
Select item 713438	NM_000085.5(CLCNKB):c.172G>T (p.Val58Leu)	CLCNKB, LOC106501713 (V58L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 975076	NM_000085.5(CLCNKB):c.226C>T (p.Arg76Ter)	CLCNKB, LOC106501713 (R76*)	Single nucleotide variant (nonsense)	Epilepsy, familial focal, with variable foci 1 +3 more	GPathogenic
Select item 3340165	NM_000085.5(CLCNKB):c.229G>C (p.Ala77Pro)	CLCNKB, LOC106501713 (A77P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1201010	NM_000085.5(CLCNKB):c.229+101dup	CLCNKB, LOC106501713	Duplication (intron variant)	not provided	GLikely benign
Select item 1178456	NM_000085.5(CLCNKB):c.229+99_229+100insC	LOC106501713, CLCNKB	Insertion (intron variant)	not provided	GBenign
Select item 1281750	NM_000085.5(CLCNKB):c.229+102T>G	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238992	NM_000085.5(CLCNKB):c.229+102del	CLCNKB, LOC106501713	Deletion (intron variant)	not provided	GBenign
Select item 1234101	NM_000085.5(CLCNKB):c.230-222G>A	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279049	NM_000085.5(CLCNKB):c.230-119G>A	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209776	NM_000085.5(CLCNKB):c.230-59G>A	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	Bartter disease type 3 +2 more	GBenign
Select item 447103	NM_000085.5(CLCNKB):c.262A>C (p.Ser88Arg)	CLCNKB, LOC106501713 (S88R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1345743	NM_000085.5(CLCNKB):c.280C>A (p.Leu94Ile)	CLCNKB, LOC106501713 (L94I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 780216	NM_000085.5(CLCNKB):c.310G>A (p.Val104Ile)	CLCNKB, LOC106501713 (V104I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 447104	NM_000085.5(CLCNKB):c.324A>G (p.Ser108=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1280604	NM_000085.5(CLCNKB):c.358+44_358+46del	CLCNKB, LOC106501713	Deletion (intron variant)	not provided	GBenign
Select item 1230357	NM_000085.5(CLCNKB):c.358+124A>G	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242162	NM_000085.5(CLCNKB):c.359-232G>A	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230343	NM_000085.5(CLCNKB):c.359-215G>A	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209691	NM_000085.5(CLCNKB):c.359-70A>G	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	Bartter disease type 4B +2 more	GBenign
Select item 381727	NM_000085.5(CLCNKB):c.359G>T (p.Gly120Val)	CLCNKB, LOC106501713 (G120V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 447105	NM_000085.5(CLCNKB):c.492G>C (p.Gly164=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1286454	NM_000085.5(CLCNKB):c.498+51C>T	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183733	NM_000085.5(CLCNKB):c.498+83C>G	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1265585	NM_000085.5(CLCNKB):c.498+117A>G	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247935	NM_000085.5(CLCNKB):c.577-27T>G	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3370033	NM_000085.5(CLCNKB):c.577-12C>A	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 381050	NM_000085.5(CLCNKB):c.577-5C>T	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 7592	NM_000085.5(CLCNKB):c.610G>A (p.Ala204Thr)	CLCNKB, LOC106501713 (A204T)	Single nucleotide variant (missense variant)	Bartter disease type 4B +2 more	GPathogenic/Likely pathogenic
Select item 2429674	NM_000085.5(CLCNKB):c.611C>T (p.Ala204Val)	LOC106501713, CLCNKB (A204V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 504916	NM_000085.5(CLCNKB):c.641C>G (p.Ala214Gly)	CLCNKB, LOC106501713 (A214G)	Single nucleotide variant (missense variant)	Bartter disease type 3 +3 more	GBenign
Select item 504915	NM_000085.5(CLCNKB):c.642A>C (p.Ala214=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1248078	NM_000085.5(CLCNKB):c.655+55C>T	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290690	NM_000085.5(CLCNKB):c.655+133G>A	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181383	NM_000085.5(CLCNKB):c.655+146C>A	LOC106501713, CLCNKB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214354	NM_000085.5(CLCNKB):c.655+152del	CLCNKB, LOC106501713	Deletion (intron variant)	not provided	GLikely benign
Select item 1259614	NM_000085.5(CLCNKB):c.656-261C>T	CLCNKB, LOC106501713	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 504913	NM_000085.5(CLCNKB):c.656-105G>A	CLCNKB, LOC106501713 (G15E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1180339	NM_000085.5(CLCNKB):c.656-14A>T	LOC106501713, CLCNKB	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3253068	NM_000085.5(CLCNKB):c.736G>C (p.Gly246Arg)	CLCNKB, LOC106501713 (G246R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1279349	NM_000085.5(CLCNKB):c.781+98C>G	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258167	NM_000085.5(CLCNKB):c.781+133C>T	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225428	NM_000085.5(CLCNKB):c.782-147G>A	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259834	NM_000085.5(CLCNKB):c.782-75G>C	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 447108	NM_000085.5(CLCNKB):c.860C>T (p.Ala287Val)	CLCNKB, LOC106501713 (A287V +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 1277184	NM_000085.5(CLCNKB):c.866+33_866+34insT	CLCNKB, LOC106501713	Insertion (intron variant)	not provided	GBenign
Select item 1209692	NM_000085.5(CLCNKB):c.866+35A>T	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	Bartter disease type 4B +2 more	GBenign
Select item 1209750	NM_000085.5(CLCNKB):c.866+47del	CLCNKB, LOC106501713	Deletion (intron variant)	not provided +2 more	GBenign
Select item 1209751	NM_000085.5(CLCNKB):c.867-32G>A	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	Bartter disease type 4B +2 more	GBenign
Select item 377683	NM_000085.5(CLCNKB):c.876T>C (p.Cys292=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	Bartter disease type 4B +3 more	GBenign
Select item 801448	NM_000085.5(CLCNKB):c.910C>T (p.Arg304Ter)	CLCNKB, LOC106501713 (R135* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1294544	NM_000085.5(CLCNKB):c.968+36G>A	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209752	NM_000085.5(CLCNKB):c.968+47T>C	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	Bartter disease type 3 +2 more	GBenign
Select item 1288632	NM_000085.5(CLCNKB):c.968+83C>G	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186038	NM_000085.5(CLCNKB):c.968+107_968+108insGCCATTATTTTTT	LOC106501713, CLCNKB	Insertion (intron variant)	not provided	GLikely benign
Select item 1248355	NM_000085.5(CLCNKB):c.968+148A>G	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228272	NM_000085.5(CLCNKB):c.969-292A>G	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278655	NM_000085.5(CLCNKB):c.969-219C>G	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295230	NM_000085.5(CLCNKB):c.969-195C>G	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249220	NM_000085.5(CLCNKB):c.969-180C>T	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182241	NM_000085.5(CLCNKB):c.969-58C>T	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 504914	NM_000085.5(CLCNKB):c.1053+13G>C	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1222788	NM_000085.5(CLCNKB):c.1054-7G>A	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2202706	NM_000085.5(CLCNKB):c.1172G>A (p.Trp391Ter)	CLCNKB, LOC106501713 (W222* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1275155	NM_000085.5(CLCNKB):c.1183C>T (p.Arg395Trp)	CLCNKB, LOC106501713 (R226W +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1318516	NM_000085.5(CLCNKB):c.1227+23G>A	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1264660	NM_000085.5(CLCNKB):c.1227+61dup	CLCNKB, LOC106501713	Duplication (intron variant)	not provided	GBenign
Select item 1260289	NM_000085.5(CLCNKB):c.1227+55T>G	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257486	NM_000085.5(CLCNKB):c.1227+61_1227+62insA	CLCNKB, LOC106501713	Insertion (intron variant)	not provided	GBenign
Select item 1258869	NM_000085.5(CLCNKB):c.1228-103C>T	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273122	NM_000085.5(CLCNKB):c.1228-38A>G	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 585698	NM_000085.5(CLCNKB):c.1254C>T (p.Thr418=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 585699	NM_000085.5(CLCNKB):c.1255A>G (p.Ile419Val)	CLCNKB, LOC106501713 (I419V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 447090	NM_000085.5(CLCNKB):c.1297+5G>T	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1281313	NM_000085.5(CLCNKB):c.1297+51A>G	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236800	NM_000085.5(CLCNKB):c.1297+57G>C	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226271	NM_000085.5(CLCNKB):c.1297+58C>A	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 585700	NM_000085.5(CLCNKB):c.1308C>T (p.Ile436=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2055600	NM_000085.5(CLCNKB):c.1313G>A (p.Arg438His)	CLCNKB, LOC106501713 (R269H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1268339	NM_000085.5(CLCNKB):c.1408+16G>C	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242156	NM_000085.5(CLCNKB):c.1408+24C>G	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245126	NM_000085.5(CLCNKB):c.1408+116C>T	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244945	NM_000085.5(CLCNKB):c.1408+180G>A	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1302827	NM_000085.5(CLCNKB):c.1408+188_1409-186dup	CLCNKB, LOC106501713	Duplication (intron variant)	not provided	GBenign
Select item 1232843	NM_000085.5(CLCNKB):c.1409-44C>G	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2229439	NM_000085.5(CLCNKB):c.1429G>A (p.Ala477Thr)	CLCNKB, LOC106501713 (A477T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 585702	NM_000085.5(CLCNKB):c.1441A>T (p.Thr481Ser)	CLCNKB, LOC106501713 (T481S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 585703	NM_000085.5(CLCNKB):c.1455G>A (p.Ala485=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 786453	NM_000085.5(CLCNKB):c.1527C>T (p.Asn509=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 791107	NM_000085.5(CLCNKB):c.1570G>A (p.Val524Ile)	CLCNKB, LOC106501713 (V524I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2574831	NM_000085.5(CLCNKB):c.1588C>T (p.Pro530Ser)	CLCNKB, LOC106501713 (P361S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1245314	NM_000085.5(CLCNKB):c.1622+25A>G	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided	GBenign

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