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

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Search results

Items: 94

	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 1315771	NM_004070.4(CLCNKA):c.-8+273G>A	CLCNKA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179730	NM_004070.4(CLCNKA):c.-7-28G>A	CLCNKA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220926	NM_004070.4(CLCNKA):c.23G>A (p.Arg8His)	CLCNKA (R8H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1287202	NM_004070.4(CLCNKA):c.100+122C>T	CLCNKA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318226	NM_004070.4(CLCNKA):c.100+240T>C	CLCNKA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291597	NM_004070.4(CLCNKA):c.100+246T>C	CLCNKA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316530	NM_004070.4(CLCNKA):c.100+336G>T	CLCNKA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283626	NM_004070.4(CLCNKA):c.101-267A>G	CLCNKA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250545	NM_004070.4(CLCNKA):c.101-172C>G	CLCNKA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291352	NM_004070.4(CLCNKA):c.101-133C>T	CLCNKA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706874	NM_004070.4(CLCNKA):c.101-113C>T	CLCNKA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222414	NM_004070.4(CLCNKA):c.101-33A>G	CLCNKA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318021	NM_004070.4(CLCNKA):c.229+210T>G	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222551	NM_004070.4(CLCNKA):c.229+269G>C	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242273	NM_004070.4(CLCNKA):c.230-303T>C	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224982	NM_004070.4(CLCNKA):c.230-121C>G	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269175	NM_004070.4(CLCNKA):c.230-52C>T	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244917	NM_004070.4(CLCNKA):c.230-15C>T	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 585697	NM_004070.4(CLCNKA):c.247A>G (p.Arg83Gly)	CLCNKA, LOC106501712 (R83G)	Single nucleotide variant (missense variant +1 more)	Bartter disease type 4B +2 more	GBenign
Select item 782361	NM_004070.4(CLCNKA):c.310G>A (p.Val104Ile)	CLCNKA, LOC106501712 (V104I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 1283622	NM_004070.4(CLCNKA):c.358+100C>G	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239746	NM_004070.4(CLCNKA):c.359-117C>A	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245125	NM_004070.4(CLCNKA):c.359-111G>A	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318350	NM_004070.4(CLCNKA):c.359-56C>T	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278622	NM_004070.4(CLCNKA):c.499-94G>A	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229966	NM_004070.4(CLCNKA):c.655+130T>C	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181965	NM_004070.4(CLCNKA):c.655+145C>A	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286301	NM_004070.4(CLCNKA):c.655+212A>G	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316527	NM_004070.4(CLCNKA):c.655+241C>T	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1269822	NM_004070.4(CLCNKA):c.655+256C>T	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277991	NM_004070.4(CLCNKA):c.656-58C>A	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 718388	NM_004070.4(CLCNKA):c.777G>A (p.Glu259=)	CLCNKA, LOC106501712	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1179578	NM_004070.4(CLCNKA):c.782-36G>C	LOC106501712, CLCNKA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1270481	NM_004070.4(CLCNKA):c.782-35C>G	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267006	NM_004070.4(CLCNKA):c.944A>T (p.Tyr315Phe)	CLCNKA, LOC106501712 (Y272F +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1263729	NM_004070.4(CLCNKA):c.968+29dup	CLCNKA, LOC106501712	Duplication (intron variant)	not provided	GBenign
Select item 1244137	NM_004070.4(CLCNKA):c.969-298C>T	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283329	NM_004070.4(CLCNKA):c.969-292G>A	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316529	NM_004070.4(CLCNKA):c.1000C>G (p.Leu334Val)	CLCNKA, LOC106501712 (L291V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 447079	NM_004070.4(CLCNKA):c.1005C>T (p.Leu335=)	CLCNKA, LOC106501712	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1177999	NM_004070.4(CLCNKA):c.1053+85A>G	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236877	NM_004070.4(CLCNKA):c.1054-96G>A	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317547	NM_004070.4(CLCNKA):c.1054-8C>T	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222417	NM_004070.4(CLCNKA):c.1054-7G>A	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260558	NM_004070.4(CLCNKA):c.1071T>A (p.His357Gln)	CLCNKA, LOC106501712 (H314Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1225783	NM_004070.4(CLCNKA):c.1227+62G>C	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276976	NM_004070.4(CLCNKA):c.1227+83G>A	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245743	NM_004070.4(CLCNKA):c.1228-39C>T	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238556	NM_004070.4(CLCNKA):c.1335C>G (p.Ala445=)	CLCNKA, LOC106501712	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1177821	NM_004070.4(CLCNKA):c.1339G>A (p.Ala447Thr)	CLCNKA, LOC106501712 (A404T +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1250857	NM_004070.4(CLCNKA):c.1360A>G (p.Thr454Ala)	CLCNKA, LOC106501712 (T411A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1229262	NM_004070.4(CLCNKA):c.1369G>A (p.Val457Ile)	CLCNKA, LOC106501712 (V414I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1238439	NM_004070.4(CLCNKA):c.1371T>C (p.Val457=)	CLCNKA, LOC106501712	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1209770	NM_004070.4(CLCNKA):c.1408+13C>T	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	Bartter disease type 4B +1 more	GBenign
Select item 1317048	NM_004070.4(CLCNKA):c.1408+113C>T	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251523	NM_004070.4(CLCNKA):c.1408+132G>A	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279274	NM_004070.4(CLCNKA):c.1409-87C>T	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276931	NM_004070.4(CLCNKA):c.1409-86G>A	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276004	NM_004070.4(CLCNKA):c.1409-41C>G	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267099	NM_004070.4(CLCNKA):c.1488G>A (p.Val496=)	LOC106501712, CLCNKA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1241807	NM_004070.4(CLCNKA):c.1600C>T (p.Arg534Trp)	CLCNKA, LOC106501712 (R491W +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1317286	NM_004070.4(CLCNKA):c.1622+168T>C	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260040	NM_004070.4(CLCNKA):c.1622+279A>G	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267127	NM_004070.4(CLCNKA):c.1622+281A>G	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226112	NM_004070.4(CLCNKA):c.1623-120C>A	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226514	NM_004070.4(CLCNKA):c.1623-71T>C	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209771	NM_004070.4(CLCNKA):c.1623-57T>C	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	Bartter disease type 4B +1 more	GBenign
Select item 1278743	NM_004070.4(CLCNKA):c.1756+28C>T	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259237	NM_004070.4(CLCNKA):c.1757-178T>C	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209772	NM_004070.4(CLCNKA):c.1757-13C>G	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	Bartter disease type 4B +1 more	GBenign
Select item 1283360	NM_004070.4(CLCNKA):c.1845+34G>A	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 585696	NM_004070.4(CLCNKA):c.1846-6T>C	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	Bartter disease type 4B +1 more	GBenign
Select item 1209773	NM_004070.4(CLCNKA):c.1929+30C>A	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	Bartter disease type 4B +1 more	GBenign
Select item 1209774	NM_004070.4(CLCNKA):c.1929+31A>G	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	Bartter disease type 4B +1 more	GBenign
Select item 1288811	NM_004070.4(CLCNKA):c.1929+85C>T	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227645	NM_004070.4(CLCNKA):c.1929+102A>G	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241892	NM_004070.4(CLCNKA):c.1929+155C>T	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174369	NM_004070.4(CLCNKA):c.1929+233G>A	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267296	NM_004070.4(CLCNKA):c.1930-197T>G	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 787743	NM_004070.4(CLCNKA):c.1982G>A (p.Arg661Gln)	CLCNKA, LOC106501712 (R660Q +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1261162	NM_004070.4(CLCNKA):c.2016+76A>G	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244666	NM_004070.4(CLCNKA):c.2017-155C>T	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273706	NM_004070.4(CLCNKA):c.2017-52del	CLCNKA, LOC106501712	Deletion (intron variant)	not provided	GBenign
Select item 1326474	NM_004070.4(CLCNKA):c.2017-34C>T	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1274788	NM_004070.4(CLCNKA):c.2017-16C>T	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249544	NM_004070.4(CLCNKA):c.2048C>T (p.Pro683Leu)	CLCNKA, LOC106501712 (P640L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 447087	NM_004070.4(CLCNKA):c.2055T>C (p.Ala685=)	CLCNKA, LOC106501712	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1251836	NM_004070.4(CLCNKA):c.*37A>C	CLCNKA, LOC106501712	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1183003	NM_004070.4(CLCNKA):c.*126A>G	CLCNKA, LOC106501712	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

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Items: 94