ZNF341-AS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	ACSS2, ACTL10 +254 more	Copy number gain	See cases	GPathogenic
Select item 146117	GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1	AAR2, ACSS2 +214 more	Copy number loss	See cases	GPathogenic
Select item 1533536	NM_001282933.2(ZNF341):c.1853-17G>C	ZNF341, ZNF341-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1165792	NM_001282933.2(ZNF341):c.1853-17G>A	ZNF341, ZNF341-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2994790	NM_001282933.2(ZNF341):c.1853-6C>T	ZNF341, ZNF341-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1589300	NM_001282933.2(ZNF341):c.1853-5T>C	ZNF341-AS1, ZNF341	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2103961	NM_001282933.2(ZNF341):c.1857G>A (p.Glu619=)	ZNF341, ZNF341-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1661808	NM_001282933.2(ZNF341):c.1860G>A (p.Lys620=)	ZNF341, ZNF341-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2702138	NM_001282933.2(ZNF341):c.1877T>C (p.Val626Ala)	ZNF341, ZNF341-AS1 (V626A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3011938	NM_001282933.2(ZNF341):c.1881C>T (p.Cys627=)	ZNF341, ZNF341-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1417204	NM_001282933.2(ZNF341):c.1889C>T (p.Ala630Val)	ZNF341, ZNF341-AS1 (A540V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2076569	NM_001282933.2(ZNF341):c.1890G>T (p.Ala630=)	ZNF341, ZNF341-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2527706	NM_001282933.2(ZNF341):c.1896C>A (p.Asn632Lys)	ZNF341, ZNF341-AS1 (N625K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1423323	NM_001282933.2(ZNF341):c.1897C>T (p.Arg633Cys)	ZNF341, ZNF341-AS1 (R543C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1480000	NM_001282933.2(ZNF341):c.1903G>A (p.Asp635Asn)	ZNF341, ZNF341-AS1 (D635N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2705623	NM_001282933.2(ZNF341):c.1909C>T (p.Leu637=)	ZNF341, ZNF341-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2998067	NM_001282933.2(ZNF341):c.1914G>A (p.Lys638=)	ZNF341, ZNF341-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2092185	NM_001282933.2(ZNF341):c.1916G>A (p.Arg639Lys)	ZNF341, ZNF341-AS1 (R549K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2109712	NM_001282933.2(ZNF341):c.1921_1922del (p.Met641fs)	ZNF341, ZNF341-AS1 (M634fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1170037	NM_001282933.2(ZNF341):c.1929C>T (p.Ile643=)	ZNF341, ZNF341-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1169237	NM_001282933.2(ZNF341):c.1932C>T (p.His644=)	ZNF341, ZNF341-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1393421	NM_001282933.2(ZNF341):c.1934A>G (p.Glu645Gly)	ZNF341, ZNF341-AS1 (E638G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1616372	NM_001282933.2(ZNF341):c.1938C>T (p.Pro646=)	ZNF341, ZNF341-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2090261	NM_001282933.2(ZNF341):c.1943A>G (p.Lys648Arg)	ZNF341, ZNF341-AS1 (K648R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1592020	NM_001282933.2(ZNF341):c.1962C>T (p.Phe654=)	ZNF341, ZNF341-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2012590	NM_001282933.2(ZNF341):c.1963T>C (p.Ser655Pro)	ZNF341, ZNF341-AS1 (S648P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1955154	NM_001282933.2(ZNF341):c.1964C>T (p.Ser655Leu)	ZNF341, ZNF341-AS1 (S565L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2993479	NM_001282933.2(ZNF341):c.1964+1G>A	ZNF341, ZNF341-AS1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2111044	NM_001282933.2(ZNF341):c.1965-15G>T	ZNF341, ZNF341-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2071777	NM_001282933.2(ZNF341):c.1965-7G>A	ZNF341, ZNF341-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2152329	NM_001282933.2(ZNF341):c.1967C>T (p.Thr656Met)	ZNF341, ZNF341-AS1 (T566M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2182815	NM_001282933.2(ZNF341):c.1968G>A (p.Thr656=)	ZNF341, ZNF341-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1951522	NM_001282933.2(ZNF341):c.1979G>A (p.Cys660Tyr)	ZNF341, ZNF341-AS1 (C570Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2089077	NM_001282933.2(ZNF341):c.1988A>G (p.Glu663Gly)	ZNF341, ZNF341-AS1 (E656G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1379284	NM_001282933.2(ZNF341):c.1994A>G (p.Asn665Ser)	ZNF341, ZNF341-AS1 (N575S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1350455	NM_001282933.2(ZNF341):c.1997G>A (p.Arg666Gln)	ZNF341, ZNF341-AS1 (R666Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2194428	NM_001282933.2(ZNF341):c.2000C>T (p.Pro667Leu)	ZNF341-AS1, ZNF341 (P577L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2965818	NM_001282933.2(ZNF341):c.2001G>A (p.Pro667=)	ZNF341, ZNF341-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2125299	NM_001282933.2(ZNF341):c.2007G>A (p.Lys669=)	ZNF341, ZNF341-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2005806	NM_001282933.2(ZNF341):c.2007G>C (p.Lys669Asn)	ZNF341, ZNF341-AS1 (K579N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3195286	NM_001282933.2(ZNF341):c.2014G>A (p.Ala672Thr)	ZNF341, ZNF341-AS1 (A582T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1577534	NM_001282933.2(ZNF341):c.2028C>T (p.Ser676=)	ZNF341, ZNF341-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3000444	NM_001282933.2(ZNF341):c.2035+12T>C	ZNF341, ZNF341-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2049839	NM_001282933.2(ZNF341):c.2035+15G>C	ZNF341, ZNF341-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2628236	NM_001282933.2(ZNF341):c.2036-62G>A	ZNF341, ZNF341-AS1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1091306	NM_001282933.2(ZNF341):c.2036-14C>T	ZNF341, ZNF341-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1934556	NM_001282933.2(ZNF341):c.2036-13C>T	ZNF341, ZNF341-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1168952	NM_001282933.2(ZNF341):c.2036-9G>A	ZNF341, ZNF341-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1372159	NM_001282933.2(ZNF341):c.2053T>A (p.Cys685Ser)	ZNF341, ZNF341-AS1 (C678S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1935820	NM_001282933.2(ZNF341):c.2055C>T (p.Cys685=)	ZNF341, ZNF341-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1365837	NM_001282933.2(ZNF341):c.2067C>T (p.Ser689=)	ZNF341, ZNF341-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2161342	NM_001282933.2(ZNF341):c.2069A>G (p.Lys690Arg)	ZNF341, ZNF341-AS1 (K600R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1466891	NM_001282933.2(ZNF341):c.2080C>T (p.Arg694Cys)	ZNF341, ZNF341-AS1 (R604C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2980003	NM_001282933.2(ZNF341):c.2081G>A (p.Arg694His)	ZNF341, ZNF341-AS1 (R694H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1621468	NM_001282933.2(ZNF341):c.2082C>T (p.Arg694=)	ZNF341, ZNF341-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1540348	NM_001282933.2(ZNF341):c.2084G>A (p.Arg695His)	ZNF341, ZNF341-AS1 (R605H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1143626	NM_001282933.2(ZNF341):c.2088C>T (p.Ala696=)	ZNF341, ZNF341-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1946673	NM_001282933.2(ZNF341):c.2089C>T (p.His697Tyr)	ZNF341, ZNF341-AS1 (H697Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1356581	NM_001282933.2(ZNF341):c.2095G>A (p.Ala699Thr)	ZNF341, ZNF341-AS1 (A609T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1426006	NM_001282933.2(ZNF341):c.2096C>T (p.Ala699Val)	ZNF341, ZNF341-AS1 (A609V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1989003	NM_001282933.2(ZNF341):c.2097C>T (p.Ala699=)	ZNF341, ZNF341-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2216427	NM_001282933.2(ZNF341):c.2107C>T (p.Arg703Cys)	ZNF341, ZNF341-AS1 (R613C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1512436	NM_001282933.2(ZNF341):c.2108G>A (p.Arg703His)	ZNF341, ZNF341-AS1 (R613H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1562970	NM_001282933.2(ZNF341):c.2109C>T (p.Arg703=)	ZNF341, ZNF341-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1365444	NM_001282933.2(ZNF341):c.2110G>A (p.Ala704Thr)	ZNF341, ZNF341-AS1 (A704T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1151474	NM_001282933.2(ZNF341):c.2111C>T (p.Ala704Val)	ZNF341, ZNF341-AS1 (A614V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1984733	NM_001282933.2(ZNF341):c.2112C>T (p.Ala704=)	ZNF341, ZNF341-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1012482	NM_001282933.2(ZNF341):c.2117C>T (p.Thr706Met)	ZNF341, ZNF341-AS1 (T616M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1565481	NM_001282933.2(ZNF341):c.2118G>A (p.Thr706=)	ZNF341, ZNF341-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1484871	NM_001282933.2(ZNF341):c.2121C>T (p.Gly707=)	ZNF341, ZNF341-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2794092	NM_001282933.2(ZNF341):c.2130G>A (p.Lys710=)	ZNF341, ZNF341-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1369234	NM_001282933.2(ZNF341):c.2135G>A (p.Arg712His)	ZNF341, ZNF341-AS1 (R622H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3002007	NM_001282933.2(ZNF341):c.2145C>G (p.Gly715=)	ZNF341, ZNF341-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1167969	NM_001282933.2(ZNF341):c.2148C>T (p.Cys716=)	ZNF341, ZNF341-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2190089	NM_001282933.2(ZNF341):c.2149G>A (p.Ala717Thr)	ZNF341, ZNF341-AS1 (A627T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3335548	NM_001282933.2(ZNF341):c.2150C>T (p.Ala717Val)	ZNF341, ZNF341-AS1 (A710V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1959509	NM_001282933.2(ZNF341):c.2157C>T (p.Gly719=)	ZNF341, ZNF341-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1167811	NM_001282933.2(ZNF341):c.2163C>A (p.Ser721=)	ZNF341, ZNF341-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 207894	NM_001282933.2(ZNF341):c.2164C>T (p.Arg722Cys)	ZNF341, ZNF341-AS1 (R715C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1903311	NM_001282933.2(ZNF341):c.2165G>T (p.Arg722Leu)	ZNF341, ZNF341-AS1 (R715L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1586942	NM_001282933.2(ZNF341):c.2165G>A (p.Arg722His)	ZNF341, ZNF341-AS1 (R632H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1599824	NM_001282933.2(ZNF341):c.2166C>T (p.Arg722=)	ZNF341, ZNF341-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1907037	NM_001282933.2(ZNF341):c.2167C>T (p.His723Tyr)	ZNF341, ZNF341-AS1 (H716Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1522739	NM_001282933.2(ZNF341):c.2186A>G (p.His729Arg)	ZNF341, ZNF341-AS1 (H722R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1386356	NM_001282933.2(ZNF341):c.2189G>A (p.Arg730His)	ZNF341, ZNF341-AS1 (R723H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1355410	NM_001282933.2(ZNF341):c.2192G>A (p.Cys731Tyr)	ZNF341, ZNF341-AS1 (C641Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1394280	NM_001282933.2(ZNF341):c.2195G>A (p.Arg732His)	ZNF341, ZNF341-AS1 (R725H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2297143	NM_001282933.2(ZNF341):c.2197C>A (p.Leu733Ile)	ZNF341, ZNF341-AS1 (L643I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285311	NM_001282933.2(ZNF341):c.2197C>T (p.Leu733Phe)	ZNF341, ZNF341-AS1 (L726F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1425269	NM_001282933.2(ZNF341):c.2198T>C (p.Leu733Pro)	ZNF341, ZNF341-AS1 (L643P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1528288	NM_001282933.2(ZNF341):c.2199C>T (p.Leu733=)	ZNF341-AS1, ZNF341	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1508146	NM_001282933.2(ZNF341):c.2200G>A (p.Gly734Ser)	ZNF341, ZNF341-AS1 (G644S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3004343	NM_001282933.2(ZNF341):c.2202C>T (p.Gly734=)	ZNF341, ZNF341-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1525332	NM_001282933.2(ZNF341):c.2230del (p.Arg744fs)	ZNF341, ZNF341-AS1 (R737fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1386537	NM_001282933.2(ZNF341):c.2230C>T (p.Arg744Trp)	ZNF341, ZNF341-AS1 (R654W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1909980	NM_001282933.2(ZNF341):c.2233C>T (p.Arg745Trp)	ZNF341, ZNF341-AS1 (R655W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2160306	NM_001282933.2(ZNF341):c.2237C>A (p.Pro746His)	ZNF341, ZNF341-AS1 (P746H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2776102	NM_001282933.2(ZNF341):c.2241C>G (p.Pro747=)	ZNF341, ZNF341-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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