ClinVar for Gene (Select 124245) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243615	NC_000016.9:g.(?_87636753)_(88808850_?)del	BANP, CA5A +13 more	Deletion	not provided	GUncertain significance
Select item 3243328	NC_000016.9:g.(?_87921735)_(89484776_?)del	ACSF3, ANKRD11 +21 more	Deletion	KBG syndrome	GPathogenic
Select item 3242307	GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3	ACSF3, ADAD2 +87 more	Copy number gain	not provided	GPathogenic
Select item 3192351	NM_144604.4(ZC3H18):c.571G>A (p.Asp191Asn)	ZC3H18 (D191N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192350	NM_144604.4(ZC3H18):c.2606C>T (p.Pro869Leu)	ZC3H18 (P893L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192349	NM_144604.4(ZC3H18):c.2572C>T (p.Arg858Trp)	ZC3H18 (R882W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192348	NM_144604.4(ZC3H18):c.2552C>G (p.Thr851Arg)	ZC3H18 (T851R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192347	NM_144604.4(ZC3H18):c.2392C>G (p.Gln798Glu)	ZC3H18 (Q798E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192346	NM_144604.4(ZC3H18):c.2369C>T (p.Ser790Phe)	ZC3H18 (S790F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192345	NM_144604.4(ZC3H18):c.2360G>T (p.Gly787Val)	ZC3H18 (G787V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192343	NM_144604.4(ZC3H18):c.2119G>A (p.Val707Met)	ZC3H18 (V731M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192342	NM_144604.4(ZC3H18):c.1909G>C (p.Val637Leu)	ZC3H18 (V637L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3192341	NM_144604.4(ZC3H18):c.1883C>T (p.Pro628Leu)	ZC3H18 (P628L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192340	NM_144604.4(ZC3H18):c.1874C>T (p.Pro625Leu)	ZC3H18 (P649L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192339	NM_144604.4(ZC3H18):c.1723C>G (p.Arg575Gly)	ZC3H18 (R599G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192338	NM_144604.4(ZC3H18):c.1622G>A (p.Arg541His)	ZC3H18 (R541H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192337	NM_144604.4(ZC3H18):c.1595C>T (p.Ser532Leu)	ZC3H18 (S532L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192336	NM_144604.4(ZC3H18):c.1451A>G (p.Lys484Arg)	ZC3H18 (K508R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192335	NM_144604.4(ZC3H18):c.1450A>C (p.Lys484Gln)	ZC3H18 (K484Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192334	NM_144604.4(ZC3H18):c.1414C>T (p.Arg472Trp)	ZC3H18 (R472W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192333	NM_144604.4(ZC3H18):c.1381G>A (p.Asp461Asn)	ZC3H18 (D461N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192332	NM_144604.4(ZC3H18):c.1364G>A (p.Arg455His)	ZC3H18 (R455H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192331	NM_144604.4(ZC3H18):c.1090C>T (p.Leu364Phe)	ZC3H18 (L364F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063445	GRCh37/hg19 16q24.2-24.3(chr16:88445361-88818583)x3	CTU2, CYBA +8 more	Copy number gain	not specified	GUncertain significance
Select item 3063444	GRCh37/hg19 16q24.2-24.3(chr16:88153961-89104917)x1	APRT, CBFA2T3 +14 more	Copy number loss	not specified	GUncertain significance
Select item 3024606	GRCh37/hg19 16q24.2-24.3(chr16:87866576-89424113)x1	ACSF3, ANKRD11 +22 more	Copy number loss	not provided	GPathogenic
Select item 2685589	GRCh37/hg19 16q24.2-24.3(chr16:88647290-88859285)x1	CTU2, CYBA +6 more	Copy number loss	not provided	GUncertain significance
Select item 2685587	GRCh37/hg19 16q24.2-24.3(chr16:88067200-89460290)x1	ACSF3, ANKRD11 +20 more	Copy number loss	not provided	GPathogenic
Select item 2646981	NM_144604.4(ZC3H18):c.2049G>A (p.Thr683=)	ZC3H18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646980	NM_144604.4(ZC3H18):c.1824G>A (p.Pro608=)	ZC3H18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2646979	NM_144604.4(ZC3H18):c.1245C>T (p.Arg415=)	ZC3H18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623745	NM_144604.4(ZC3H18):c.494A>T (p.Glu165Val)	ZC3H18 (E165V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607575	NM_144604.4(ZC3H18):c.76G>A (p.Asp26Asn)	ZC3H18 (D26N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606340	NM_144604.4(ZC3H18):c.2518A>T (p.Arg840Trp)	ZC3H18 (R840W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600626	NM_144604.4(ZC3H18):c.1610G>A (p.Arg537Gln)	ZC3H18 (R537Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596330	NM_144604.4(ZC3H18):c.2579G>A (p.Arg860Gln)	ZC3H18 (R884Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589594	NM_144604.4(ZC3H18):c.1604C>T (p.Pro535Leu)	ZC3H18 (P559L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557990	NM_144604.4(ZC3H18):c.2035C>T (p.Pro679Ser)	ZC3H18 (P679S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555645	NM_144604.4(ZC3H18):c.887C>T (p.Pro296Leu)	ZC3H18 (P296L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547905	NM_144604.4(ZC3H18):c.1064T>C (p.Ile355Thr)	ZC3H18 (I379T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543187	NM_144604.4(ZC3H18):c.2239C>A (p.Pro747Thr)	ZC3H18 (P771T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528759	NM_144604.4(ZC3H18):c.462T>G (p.Asp154Glu)	ZC3H18 (D154E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515094	NM_144604.4(ZC3H18):c.2618G>A (p.Arg873Gln)	ZC3H18 (R897Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512327	NM_144604.4(ZC3H18):c.105T>G (p.Asp35Glu)	ZC3H18 (D35E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2510087	NM_144604.4(ZC3H18):c.1811C>T (p.Ser604Leu)	ZC3H18 (S628L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2503469	Single allele	ACSF3, ANKRD11 +116 more	Deletion	KBG syndrome	GPathogenic
Select item 2503468	Single allele	LOC130059772, LOC130059773 +138 more	Deletion	KBG syndrome	GPathogenic
Select item 2503467	Single allele	LOC121587566, LOC121587567 +218 more	Deletion	KBG syndrome	GPathogenic
Select item 2483519	NM_144604.4(ZC3H18):c.1316A>C (p.Glu439Ala)	ZC3H18 (E439A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482585	NM_144604.4(ZC3H18):c.1957A>G (p.Thr653Ala)	ZC3H18 (T653A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481836	NM_144604.4(ZC3H18):c.2407G>A (p.Gly803Arg)	ZC3H18 (G803R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479763	NM_144604.4(ZC3H18):c.874C>G (p.Pro292Ala)	ZC3H18 (P316A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479342	NM_144604.4(ZC3H18):c.2274A>T (p.Lys758Asn)	ZC3H18 (K782N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478016	NM_144604.4(ZC3H18):c.1598T>C (p.Val533Ala)	ZC3H18 (V533A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465215	NM_144604.4(ZC3H18):c.1676C>T (p.Ser559Leu)	ZC3H18 (S583L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463779	NM_144604.4(ZC3H18):c.2309G>A (p.Arg770Gln)	ZC3H18 (R770Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455128	NM_144604.4(ZC3H18):c.70T>C (p.Ser24Pro)	ZC3H18 (S24P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454251	NM_144604.4(ZC3H18):c.1985C>T (p.Pro662Leu)	ZC3H18 (P686L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422362	NC_000016.9:g.(?_87636753)_(90109753_?)dup	CTU2, CYBA +45 more	Duplication	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative +2 more	GUncertain significance
Select item 2405030	NM_144604.4(ZC3H18):c.1477C>T (p.Arg493Cys)	ZC3H18 (R517C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397957	NM_144604.4(ZC3H18):c.1925C>T (p.Pro642Leu)	ZC3H18 (P642L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2391687	NM_144604.4(ZC3H18):c.2167G>A (p.Ala723Thr)	ZC3H18 (A723T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383185	NM_144604.4(ZC3H18):c.2743G>A (p.Ala915Thr)	ZC3H18 (A939T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374934	NM_144604.4(ZC3H18):c.269G>A (p.Arg90Gln)	ZC3H18 (R90Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374113	NM_144604.4(ZC3H18):c.103G>A (p.Asp35Asn)	ZC3H18 (D35N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362892	NM_144604.4(ZC3H18):c.2258G>T (p.Arg753Met)	ZC3H18 (R777M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359780	NM_144604.4(ZC3H18):c.1014A>C (p.Glu338Asp)	ZC3H18 (E338D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353030	NM_144604.4(ZC3H18):c.2240C>T (p.Pro747Leu)	ZC3H18 (P771L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351597	NM_144604.4(ZC3H18):c.164C>T (p.Ala55Val)	ZC3H18 (A55V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345400	NM_144604.4(ZC3H18):c.89G>C (p.Arg30Thr)	ZC3H18 (R30T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335000	NM_144604.4(ZC3H18):c.2213C>A (p.Pro738His)	ZC3H18 (P762H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325135	NM_144604.4(ZC3H18):c.1688C>G (p.Ser563Cys)	ZC3H18 (S587C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322483	NM_144604.4(ZC3H18):c.1349A>C (p.Lys450Thr)	ZC3H18 (K450T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310824	NM_144604.4(ZC3H18):c.301G>A (p.Gly101Arg)	ZC3H18 (G101R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302081	NM_144604.4(ZC3H18):c.173C>T (p.Pro58Leu)	ZC3H18 (P58L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2296677	NM_144604.4(ZC3H18):c.1823C>T (p.Pro608Leu)	ZC3H18 (P608L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294385	NM_144604.4(ZC3H18):c.331G>A (p.Asp111Asn)	ZC3H18 (D111N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292031	NM_144604.4(ZC3H18):c.2450A>G (p.Lys817Arg)	ZC3H18 (K817R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285472	NM_144604.4(ZC3H18):c.1081G>A (p.Asp361Asn)	ZC3H18 (D385N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282895	NM_144604.4(ZC3H18):c.2627G>A (p.Gly876Asp)	ZC3H18 (G876D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271566	NM_144604.4(ZC3H18):c.205G>A (p.Glu69Lys)	ZC3H18 (E69K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255111	NM_144604.4(ZC3H18):c.1501G>A (p.Glu501Lys)	ZC3H18 (E525K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252849	NM_144604.4(ZC3H18):c.2545C>T (p.Pro849Ser)	ZC3H18 (P873S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238640	NM_144604.4(ZC3H18):c.2511C>A (p.Asp837Glu)	ZC3H18 (D837E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236567	NM_144604.4(ZC3H18):c.214C>G (p.Arg72Gly)	ZC3H18 (R72G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227258	NM_144604.4(ZC3H18):c.826G>A (p.Ala276Thr)	ZC3H18 (A300T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227144	NM_144604.4(ZC3H18):c.43G>A (p.Glu15Lys)	ZC3H18 (E15K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218468	NM_144604.4(ZC3H18):c.1924C>G (p.Pro642Ala)	ZC3H18 (P666A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207065	NM_144604.4(ZC3H18):c.2387C>T (p.Thr796Ile)	ZC3H18 (T820I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808404	GRCh37/hg19 16q24.2-24.3(chr16:88697181-88809407)x1	CTU2, CYBA +6 more	Copy number loss	not provided	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	IL17C, ZFHX3 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	SYCE1L, TAF1C +368 more	Copy number gain	not provided	GPathogenic
Select item 1341552	NC_000016.9:g.88365786_89584412del1218627	ACSF3, ANKRD11 +21 more	Deletion	KBG syndrome	GPathogenic
Select item 1341097	GRCh37/hg19 16q24.2-24.3(chr16:88000389-90155062)x3	ACSF3, ANKRD11 +42 more	Copy number gain	not provided	GUncertain significance
Select item 1328115	GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3	BCO1, ACSF3 +102 more	Copy number gain	not provided	GPathogenic
Select item 979487	GRCh37/hg19 16q24.2-24.3(chr16:88222732-90155062)x3	SLC22A31, SNAI3 +41 more	Copy number gain	not provided	GUncertain significance
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 782142	NM_144604.4(ZC3H18):c.102C>T (p.Ser34=)	ZC3H18	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 713960	NM_144604.4(ZC3H18):c.196C>T (p.His66Tyr)	ZC3H18 (H66Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 688519	GRCh37/hg19 16q24.2-24.3(chr16:87848902-88809407)x3	BANP, CA5A +11 more	Copy number gain	not provided	GUncertain significance

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