ClinVar for Gene (Select 1183) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235813	NM_001830.4(CLCN4):c.980G>A (p.Trp327Ter)	CLCN4 (W233* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked 49	GPathogenic
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062505	GRCh37/hg19 Xp22.31-22.2(chrX:6759774-10831816)	WWC3, ANOS1 +13 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3037259	NM_001830.4(CLCN4):c.1606G>C (p.Val536Leu)	CLCN4 (V442L +1 more)	Single nucleotide variant (missense variant)	CLCN4-related disorder	GUncertain significance
Select item 3027306	NM_001830.4(CLCN4):c.757C>T (p.Arg253Trp)	CLCN4 (R159W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024323	NM_001830.4(CLCN4):c.1622A>T (p.Glu541Val)	CLCN4 (E447V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49	GLikely pathogenic
Select item 3024251	NM_001830.4(CLCN4):c.1631G>A (p.Gly544Glu)	CLCN4 (G450E +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49	GPathogenic
Select item 3006126	NM_001830.4(CLCN4):c.1248C>T (p.Tyr416=)	CLCN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999396	NM_001830.4(CLCN4):c.1810C>T (p.Arg604Trp)	CLCN4 (R604W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2998124	NM_001830.4(CLCN4):c.924C>T (p.Ile308=)	CLCN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996051	NM_001830.4(CLCN4):c.1475A>G (p.Tyr492Cys)	CLCN4 (Y398C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990052	NM_001830.4(CLCN4):c.1854T>C (p.Thr618=)	CLCN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986541	NM_001830.4(CLCN4):c.1576+18G>A	CLCN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956003	NM_001830.4(CLCN4):c.1632G>A (p.Gly544=)	CLCN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2915154	NM_001830.4(CLCN4):c.1135A>G (p.Ile379Val)	CLCN4 (I379V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2897104	NM_001830.4(CLCN4):c.1704A>G (p.Lys568=)	CLCN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896440	NM_001830.4(CLCN4):c.244+19G>A	CLCN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2894238	NM_001830.4(CLCN4):c.2107A>G (p.Thr703Ala)	CLCN4 (T609A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889409	NM_001830.4(CLCN4):c.1181C>G (p.Thr394Ser)	CLCN4 (T300S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2876373	NM_001830.4(CLCN4):c.600G>A (p.Gly200=)	CLCN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2862682	NM_001830.4(CLCN4):c.660C>T (p.Ser220=)	CLCN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2861773	NM_001830.4(CLCN4):c.337_338insTTAGCCATGAGC (p.Glu112_Gln113insLeuSerHisGlu)	CLCN4	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 2858072	NM_001830.4(CLCN4):c.795T>C (p.Ser265=)	CLCN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2856670	NM_001830.4(CLCN4):c.1315T>C (p.Tyr439His)	CLCN4 (Y439H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2851037	NM_001830.4(CLCN4):c.534C>T (p.Ala178=)	CLCN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2849855	NM_001830.4(CLCN4):c.1716C>A (p.Tyr572Ter)	CLCN4 (Y478* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2846447	NM_001830.4(CLCN4):c.1577-14C>T	CLCN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2843053	NM_001830.4(CLCN4):c.1444A>G (p.Met482Val)	CLCN4 (M482V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2841997	NM_001830.4(CLCN4):c.1303G>T (p.Gly435Cys)	CLCN4 (G435C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2837487	NM_001830.4(CLCN4):c.1843G>C (p.Asp615His)	CLCN4 (D521H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2835683	NM_001830.4(CLCN4):c.245-16G>C	CLCN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2830202	NM_001830.4(CLCN4):c.1911G>A (p.Val637=)	CLCN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2829580	NM_001830.4(CLCN4):c.555+15A>G	CLCN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2828812	NM_001830.4(CLCN4):c.1608G>A (p.Val536=)	CLCN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2811967	NM_001830.4(CLCN4):c.2193-12T>C	CLCN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2810287	NM_001830.4(CLCN4):c.2082G>A (p.Arg694=)	CLCN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807691	NM_001830.4(CLCN4):c.1969G>A (p.Ala657Thr)	CLCN4 (A563T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2792474	NM_001830.4(CLCN4):c.245-4C>A	CLCN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2787184	NM_001830.4(CLCN4):c.1446G>A (p.Met482Ile)	CLCN4 (M388I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2772768	NM_001830.4(CLCN4):c.72G>A (p.Val24=)	CLCN4	Single nucleotide variant (synonymous variant +1 more)	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 2772714	NM_001830.4(CLCN4):c.244+18C>A	CLCN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2763626	NM_001830.4(CLCN4):c.463A>G (p.Met155Val)	CLCN4 (M61V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2760815	NM_001830.4(CLCN4):c.1068G>A (p.Trp356Ter)	CLCN4 (W262* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2756862	NM_001830.4(CLCN4):c.1848C>T (p.Ser616=)	CLCN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2753509	NM_001830.4(CLCN4):c.2157A>C (p.Lys719Asn)	CLCN4 (K625N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2753492	NM_001830.4(CLCN4):c.843+11G>A	CLCN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2752285	NM_001830.4(CLCN4):c.1155C>T (p.Tyr385=)	CLCN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2750951	NM_001830.4(CLCN4):c.1192A>G (p.Ile398Val)	CLCN4 (I304V +1 more)	Single nucleotide variant (missense variant)	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 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 2743791	NM_001830.4(CLCN4):c.1338C>A (p.Ala446=)	CLCN4	Single nucleotide variant (synonymous 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 2741920	NM_001830.4(CLCN4):c.762+13A>C	CLCN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2739967	NM_001830.4(CLCN4):c.1975+8_1975+9del	CLCN4	Deletion (intron variant)	not provided	GLikely benign
Select item 2739936	NM_001830.4(CLCN4):c.1390-19_1390-18del	CLCN4	Deletion (intron variant)	not provided	GLikely benign
Select item 2729538	NM_001830.4(CLCN4):c.2186G>A (p.Arg729Gln)	CLCN4 (R635Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2716032	NM_001830.4(CLCN4):c.723T>C (p.Leu241=)	CLCN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2709764	NM_001830.4(CLCN4):c.755G>A (p.Arg252Lys)	CLCN4 (R158K +1 more)	Single nucleotide variant (missense variant)	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 2708685	NM_001830.4(CLCN4):c.603G>C (p.Lys201Asn)	CLCN4 (K107N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2707844	NM_001830.4(CLCN4):c.498G>T (p.Leu166Phe)	CLCN4 (L166F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2706568	NM_001830.4(CLCN4):c.890C>T (p.Ala297Val)	CLCN4 (A297V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2706352	NM_001830.4(CLCN4):c.1389+16G>A	CLCN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2705896	NM_001830.4(CLCN4):c.1174C>T (p.Gln392Ter)	CLCN4 (Q298* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2700864	NM_001830.4(CLCN4):c.813A>C (p.Pro271=)	CLCN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2695300	NM_001830.4(CLCN4):c.692C>G (p.Ala231Gly)	CLCN4 (A137G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2693006	NM_001830.4(CLCN4):c.1390-17C>T	CLCN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2685727	GRCh37/hg19 Xp22.33-21.2(chrX:168547-30774453)x2	ACE2, ACOT9 +120 more	Copy number gain	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
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 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 2659973	NM_001830.4(CLCN4):c.758G>A (p.Arg253Gln)	CLCN4 (R159Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2659972	NM_001830.4(CLCN4):c.741G>A (p.Lys247=)	CLCN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659971	NM_001830.4(CLCN4):c.433-7T>G	CLCN4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2632589	NM_001830.4(CLCN4):c.1492A>G (p.Ile498Val)	CLCN4 (I404V +1 more)	Single nucleotide variant (missense variant)	CLCN4-related disorder	GUncertain significance
Select item 2629663	NM_001830.4(CLCN4):c.935G>T (p.Gly312Val)	CLCN4 (G218V +1 more)	Single nucleotide variant (missense variant)	CLCN4-related disorder	GUncertain significance
Select item 2629204	NM_001830.4(CLCN4):c.775G>T (p.Ala259Ser)	CLCN4 (A165S +1 more)	Single nucleotide variant (missense variant)	CLCN4-related disorder	GUncertain significance
Select item 2607005	NM_001830.4(CLCN4):c.1042C>G (p.Leu348Val)	CLCN4 (L348V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585539	NM_001830.4(CLCN4):c.1436C>T (p.Ala479Val)	CLCN4 (A385V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49	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 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 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 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 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 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2506269	NM_001830.4(CLCN4):c.1318A>G (p.Thr440Ala)	CLCN4 (T346A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2505218	NM_001830.4(CLCN4):c.1709G>A (p.Gly570Asp)	CLCN4 (G476D +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 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 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 2499756	NM_001830.4(CLCN4):c.1605GGT[1] (p.Val537del)	CLCN4 (V443del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2499119	NM_001830.4(CLCN4):c.1039A>G (p.Thr347Ala)	CLCN4 (T253A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440132	NM_001830.4(CLCN4):c.1360G>A (p.Val454Ile)	CLCN4 (V360I +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49	GUncertain significance
Select item 2440131	NM_001830.4(CLCN4):c.1680G>C (p.Lys560Asn)	CLCN4 (K466N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 49	GUncertain significance

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