"GeneDx"[submitter] AND "CLCN4"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 180

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58587	GRCh38/hg38 Xp22.31-22.2(chrX:6837101-13719231)x3	AMELX, ANOS1 +152 more	Copy number gain	See cases	GPathogenic
Select item 58589	GRCh38/hg38 Xp22.31-22.2(chrX:9038047-16646589)x2	ACE2, ACE2-DT +168 more	Copy number gain	See cases	GPathogenic
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)	Intellectual disability, X-linked 49 +1 more	GConflicting classifications of pathogenicity
Select item 1686771	NM_001830.4(CLCN4):c.21G>A (p.Met7Ile)	CLCN4 (M7I)	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 390250	NM_001830.4(CLCN4):c.144+6T>A	CLCN4	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 695408	NM_001830.4(CLCN4):c.145-4C>A	CLCN4	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 3343915	NM_001830.4(CLCN4):c.160A>C (p.Lys54Gln)	CLCN4 (K54Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 415733	NM_001830.4(CLCN4):c.244+4C>G	CLCN4	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1179449	NM_001830.4(CLCN4):c.245-289A>G	CLCN4	Single nucleotide variant (intron variant)	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	GPathogenic/Likely pathogenic
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 415737	NM_001830.4(CLCN4):c.288G>A (p.Thr96=)	CLCN4	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 3252453	NM_001830.4(CLCN4):c.299A>G (p.Glu100Gly)	CLCN4 (E100G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 696913	NM_001830.4(CLCN4):c.363C>G (p.Thr121=)	CLCN4	Single nucleotide variant (synonymous variant)	not provided	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 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 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 1178255	NM_001830.4(CLCN4):c.432+29G>A	CLCN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230035	NM_001830.4(CLCN4):c.432+40G>A	CLCN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230865	NM_001830.4(CLCN4):c.432+119C>T	CLCN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261681	NM_001830.4(CLCN4):c.432+217AT[7]	CLCN4	Microsatellite (intron variant)	not provided	GBenign
Select item 1314497	NM_001830.4(CLCN4):c.443C>T (p.Ala148Val)	CLCN4 (A148V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810083	NM_001830.4(CLCN4):c.469A>G (p.Ile157Val)	CLCN4 (I157V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 982984	NM_001830.4(CLCN4):c.469A>C (p.Ile157Leu)	CLCN4 (I157L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49 +1 more	GUncertain significance
Select item 1312543	NM_001830.4(CLCN4):c.515G>A (p.Arg172His)	CLCN4 (R172H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1260255	NM_001830.4(CLCN4):c.555+97A>C	CLCN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271453	NM_001830.4(CLCN4):c.556-259G>A	CLCN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241156	NM_001830.4(CLCN4):c.556-12C>T	CLCN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2571684	NM_001830.4(CLCN4):c.563C>T (p.Thr188Ile)	CLCN4 (T188I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663536	NM_001830.4(CLCN4):c.577T>G (p.Phe193Val)	CLCN4 (F193V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 951888	NM_001830.4(CLCN4):c.584_585delinsCA (p.Ile195Thr)	CLCN4 (I195T +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2580766	NM_001830.4(CLCN4):c.611T>C (p.Leu204Pro)	CLCN4 (L110P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1210833	NM_001830.4(CLCN4):c.613C>A (p.Leu205Ile)	CLCN4 (L111I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1307789	NM_001830.4(CLCN4):c.629C>T (p.Thr210Met)	CLCN4 (T116M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 696806	NM_001830.4(CLCN4):c.651C>T (p.Ser217=)	CLCN4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1219913	NM_001830.4(CLCN4):c.652G>A (p.Gly218Ser)	CLCN4 (G124S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 210735	NM_001830.4(CLCN4):c.705C>G (p.Gly235=)	CLCN4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1304468	NM_001830.4(CLCN4):c.712T>A (p.Phe238Ile)	CLCN4 (F144I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 421537	NM_001830.4(CLCN4):c.712T>C (p.Phe238Leu)	CLCN4 (F238L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1321497	NM_001830.4(CLCN4):c.763-13_763-10del	CLCN4	Deletion (intron variant)	not provided	GUncertain significance
Select item 1060499	NM_001830.4(CLCN4):c.779C>T (p.Ala260Val)	CLCN4 (A166V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 432066	NM_001830.4(CLCN4):c.804T>G (p.Phe268Leu)	CLCN4 (F268L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 429943	NM_001830.4(CLCN4):c.806G>A (p.Gly269Asp)	CLCN4 (G269D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 547063	NM_001830.4(CLCN4):c.822C>T (p.Gly274=)	CLCN4	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1691413	NM_001830.4(CLCN4):c.823G>C (p.Val275Leu)	CLCN4 (V181L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 209117	NM_001830.4(CLCN4):c.823G>A (p.Val275Met)	CLCN4 (V275M +1 more)	Single nucleotide variant (missense variant)	CLCN4-related disorder +1 more	GPathogenic
Select item 1487951	NM_001830.4(CLCN4):c.836T>C (p.Leu279Pro)	CLCN4 (L185P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1258700	NM_001830.4(CLCN4):c.843+129dup	CLCN4	Duplication (intron variant)	not provided	GBenign
Select item 1267659	NM_001830.4(CLCN4):c.843+128_843+129insGTTT	CLCN4	Insertion (intron variant)	not provided	GBenign
Select item 1269310	NM_001830.4(CLCN4):c.843+131TTTTGT[6]	CLCN4	Microsatellite (intron variant)	not provided	GBenign
Select item 1251492	NM_001830.4(CLCN4):c.843+131TTTTGT[5]	CLCN4	Microsatellite (intron variant)	not provided	GBenign
Select item 1227626	NM_001830.4(CLCN4):c.843+134_843+135insTGTTTTT	CLCN4	Microsatellite (intron variant)	not provided	GBenign
Select item 1212431	NM_001830.4(CLCN4):c.843+134dup	CLCN4	Duplication (intron variant)	not provided	GLikely benign
Select item 1262494	NM_001830.4(CLCN4):c.844-163C>T	CLCN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 767160	NM_001830.4(CLCN4):c.844-8C>G	CLCN4	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1327675	NM_001830.4(CLCN4):c.926A>G (p.Asn309Ser)	CLCN4 (N215S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 700937	NM_001830.4(CLCN4):c.948C>T (p.Leu316=)	CLCN4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 452966	NM_001830.4(CLCN4):c.949G>T (p.Val317Phe)	CLCN4 (V317F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 422822	NM_001830.4(CLCN4):c.949G>A (p.Val317Ile)	CLCN4 (V317I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1598824	NM_001830.4(CLCN4):c.975G>A (p.Thr325=)	CLCN4	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3370772	NM_001830.4(CLCN4):c.987G>T (p.Met329Ile)	CLCN4 (M235I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372908	NM_001830.4(CLCN4):c.999C>G (p.Phe333Leu)	CLCN4 (F239L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1201131	NM_001830.4(CLCN4):c.1024G>A (p.Gly342Arg)	CLCN4 (G248R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1429369	NM_001830.4(CLCN4):c.1031T>G (p.Leu344Trp)	CLCN4 (L344W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662318	NM_001830.4(CLCN4):c.1040C>A (p.Thr347Asn)	CLCN4 (T253N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 698219	NM_001830.4(CLCN4):c.1062C>T (p.Ile354=)	CLCN4	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2504361	NM_001830.4(CLCN4):c.1088C>T (p.Thr363Ile)	CLCN4 (T269I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369376	NM_001830.4(CLCN4):c.1096G>A (p.Gly366Arg)	CLCN4 (G272R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 415734	NM_001830.4(CLCN4):c.1107G>A (p.Pro369=)	CLCN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 426979	NM_001830.4(CLCN4):c.1121T>C (p.Ile374Thr)	CLCN4 (I374T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343840	NM_001830.4(CLCN4):c.1130C>T (p.Thr377Ile)	CLCN4 (T283I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708867	NM_001830.4(CLCN4):c.1138A>G (p.Thr380Ala)	CLCN4 (T286A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499830	NM_001830.4(CLCN4):c.1151C>T (p.Ala384Val)	CLCN4 (A290V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700392	NM_001830.4(CLCN4):c.1185C>A (p.Ser395Arg)	CLCN4 (S301R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365297	NM_001830.4(CLCN4):c.1273C>T (p.Pro425Ser)	CLCN4 (P331S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 850971	NM_001830.4(CLCN4):c.1298C>T (p.Pro433Leu)	CLCN4 (P339L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253378	NM_001830.4(CLCN4):c.1312G>A (p.Val438Ile)	CLCN4 (V344I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 838049	NM_001830.4(CLCN4):c.1319C>T (p.Thr440Met)	CLCN4 (T346M +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 696075	NM_001830.4(CLCN4):c.1363G>A (p.Val455Ile)	CLCN4 (V361I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3368279	NM_001830.4(CLCN4):c.1389G>C (p.Lys463Asn)	CLCN4 (K369N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1275177	NM_001830.4(CLCN4):c.1389+80G>A	CLCN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251619	NM_001830.4(CLCN4):c.1389+151A>G	CLCN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271516	NM_001830.4(CLCN4):c.1390-208C>T	CLCN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228773	NM_001830.4(CLCN4):c.1390-58C>T	CLCN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 508860	NM_001830.4(CLCN4):c.1390-6_1390-4del	CLCN4	Microsatellite (intron variant)	not provided +1 more	GLikely benign
Select item 504310	NM_001830.4(CLCN4):c.1390-5T>G	CLCN4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 415738	NM_001830.4(CLCN4):c.1390-4C>T	CLCN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1059961	NM_001830.4(CLCN4):c.1394C>T (p.Pro465Leu)	CLCN4 (P371L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575579	NM_001830.4(CLCN4):c.1397C>T (p.Ser466Leu)	CLCN4 (S372L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1414524	NM_001830.4(CLCN4):c.1430C>T (p.Ala477Val)	CLCN4 (A383V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 2