ClinVar for Gene (Select 285676) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3195901	NM_001178089.3(ZNF454):c.806A>G (p.Glu269Gly)	ZNF454 (E269G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195900	NM_001178089.3(ZNF454):c.245G>C (p.Cys82Ser)	ZNF454 (C82S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3195899	NM_001178089.3(ZNF454):c.144C>A (p.Ser48Arg)	ZNF454 (S48R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102691	NM_000843.4(GRM6):c.2603C>G (p.Pro868Arg)	GRM6, ZNF454 (P868R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102688	NM_000843.4(GRM6):c.1703A>G (p.His568Arg)	GRM6, ZNF454 (H568R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102687	NM_000843.4(GRM6):c.1229C>T (p.Ala410Val)	GRM6, ZNF454 (A410V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102686	NM_000843.4(GRM6):c.1031T>C (p.Met344Thr)	GRM6, ZNF454 (M344T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065763	NM_000843.4(GRM6):c.2236_2237del (p.Met746fs)	GRM6, ZNF454 (M746fs)	Deletion (frameshift variant)	Congenital stationary night blindness 1B	GLikely pathogenic
Select item 3062850	GRCh37/hg19 5q35.3(chr5:177944162-180183615)x3	ADAMTS2, C5orf60 +27 more	Copy number gain	not specified	GUncertain significance
Select item 3062841	GRCh37/hg19 5q35.2-35.3(chr5:176385815-178410738)x1	B4GALT7, CLK4 +33 more	Copy number loss	not specified	GPathogenic
Select item 3062813	GRCh37/hg19 5q35.3(chr5:177944162-180198875)x3	ZNF354A, ZNF354B +27 more	Copy number gain	not specified	GPathogenic
Select item 2996439	NM_000843.4(GRM6):c.1354+17C>A	GRM6, ZNF454	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993796	NM_000843.4(GRM6):c.2292G>T (p.Thr764=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991039	NM_000843.4(GRM6):c.1037G>A (p.Arg346Gln)	GRM6, ZNF454 (R346Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988605	NM_000843.4(GRM6):c.2574C>T (p.Leu858=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984999	NM_000843.4(GRM6):c.1650G>T (p.Val550=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979199	NM_000843.4(GRM6):c.1407G>T (p.Arg469=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979192	NM_000843.4(GRM6):c.1185C>A (p.Tyr395Ter)	GRM6, ZNF454 (Y395*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2979166	NM_000843.4(GRM6):c.1488C>T (p.Thr496=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2911658	NM_000843.4(GRM6):c.1896C>T (p.Phe632=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2905224	NM_000843.4(GRM6):c.2580C>T (p.Ala860=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881181	NM_000843.4(GRM6):c.2437-19C>T	GRM6, ZNF454	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875276	NM_000843.4(GRM6):c.1194G>A (p.Glu398=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873006	NM_000843.4(GRM6):c.1500+1G>A	GRM6, ZNF454	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2860839	NM_000843.4(GRM6):c.2144G>A (p.Trp715Ter)	GRM6, ZNF454 (W715*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2853799	NM_000843.4(GRM6):c.2111T>C (p.Leu704Pro)	GRM6, ZNF454 (L704P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2848671	NM_000843.4(GRM6):c.1154-14dup	GRM6, ZNF454	Duplication (intron variant)	not provided	GLikely benign
Select item 2834695	NM_000843.4(GRM6):c.1173G>A (p.Arg391=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2827620	NM_000843.4(GRM6):c.2046C>G (p.Gly682=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2819939	NM_000843.4(GRM6):c.1287G>A (p.Leu429=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2803441	NM_000843.4(GRM6):c.1355-20A>T	GRM6, ZNF454	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2797894	NM_000843.4(GRM6):c.2064C>G (p.Pro688=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2743870	NM_000843.4(GRM6):c.1715G>C (p.Arg572Pro)	GRM6, ZNF454 (R572P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2723665	NM_000843.4(GRM6):c.1154-10C>A	GRM6, ZNF454	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2713745	NM_000843.4(GRM6):c.1431G>A (p.Ala477=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656130	NM_000843.4(GRM6):c.1188G>A (p.Glu396=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617172	NM_000843.4(GRM6):c.1487C>G (p.Thr496Ser)	GRM6, ZNF454 (T496S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608461	NM_001178089.3(ZNF454):c.1162G>C (p.Glu388Gln)	ZNF454 (E388Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557938	NM_000843.4(GRM6):c.1757C>T (p.Ala586Val)	GRM6, ZNF454 (A586V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541884	NM_000843.4(GRM6):c.1789A>G (p.Ile597Val)	GRM6, ZNF454 (I597V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540177	NM_000843.4(GRM6):c.1018G>C (p.Asp340His)	GRM6, ZNF454 (D340H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2530051	NM_001178089.3(ZNF454):c.1091C>G (p.Ala364Gly)	ZNF454 (A364G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493265	NM_000843.4(GRM6):c.2221G>T (p.Val741Leu)	GRM6, ZNF454 (V741L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489769	NM_001178089.3(ZNF454):c.73C>G (p.Gln25Glu)	ZNF454 (Q25E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2444850	NM_000843.4(GRM6):c.1478G>A (p.Trp493Ter)	GRM6, LOC100130798 +1 more (W493*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2425922	NC_000005.9:g.(?_175158654)_(179263593_?)dup	ADAMTS2, ARL10 +63 more	Duplication	not provided	GUncertain significance
Select item 2425705	NC_000005.9:g.(?_177031160)_(178414004_?)dup	B4GALT7, CLK4 +13 more	Duplication	Ehlers-Danlos syndrome progeroid type	GUncertain significance
Select item 2418442	NM_000843.4(GRM6):c.1317G>A (p.Arg439=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2418174	NM_000843.4(GRM6):c.1912A>T (p.Thr638Ser)	GRM6, ZNF454 (T638S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2397515	NM_001178089.3(ZNF454):c.182A>G (p.Asp61Gly)	ZNF454 (D61G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385068	NM_001178089.3(ZNF454):c.854T>C (p.Ile285Thr)	ZNF454 (I285T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362961	NM_001178089.3(ZNF454):c.204A>T (p.Lys68Asn)	ZNF454 (K68N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325942	NM_001178089.3(ZNF454):c.1109C>G (p.Ser370Cys)	ZNF454 (S370C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303889	NM_001178089.3(ZNF454):c.1492T>G (p.Cys498Gly)	ZNF454 (C498G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299158	NM_001178089.3(ZNF454):c.782A>G (p.Tyr261Cys)	ZNF454 (Y261C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291765	NM_000843.4(GRM6):c.1756G>A (p.Ala586Thr)	GRM6, ZNF454 (A586T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288630	NM_000843.4(GRM6):c.1384G>A (p.Glu462Lys)	GRM6, ZNF454 (E462K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287218	NM_001178089.3(ZNF454):c.1498A>G (p.Lys500Glu)	ZNF454 (K500E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280030	NM_001178089.3(ZNF454):c.316G>C (p.Asp106His)	ZNF454 (D106H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255315	NM_001178089.3(ZNF454):c.301C>T (p.Pro101Ser)	ZNF454 (P101S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253828	NM_001178089.3(ZNF454):c.965A>G (p.His322Arg)	ZNF454 (H322R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235955	NM_001178089.3(ZNF454):c.1161T>A (p.Asn387Lys)	ZNF454 (N387K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232271	NM_001178089.3(ZNF454):c.403A>T (p.Ile135Phe)	ZNF454 (I135F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2198321	NM_000843.4(GRM6):c.1857G>A (p.Ser619=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2193432	NM_000843.4(GRM6):c.1153+10G>T	GRM6, ZNF454	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2171607	NM_000843.4(GRM6):c.1890C>T (p.Gly630=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2163881	NM_000843.4(GRM6):c.2304C>T (p.Tyr768=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2155842	NM_000843.4(GRM6):c.1397C>T (p.Ala466Val)	GRM6, ZNF454 (A466V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2148694	NM_000843.4(GRM6):c.1075G>A (p.Glu359Lys)	GRM6, ZNF454 (E359K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2144849	NM_000843.4(GRM6):c.2328C>T (p.Pro776=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2142962	NM_000843.4(GRM6):c.1936G>T (p.Gly646Trp)	GRM6, ZNF454 +1 more (G646W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2136357	NM_000843.4(GRM6):c.2267G>A (p.Gly756Asp)	GRM6, ZNF454 (G756D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2134685	NM_000843.4(GRM6):c.1440C>T (p.Gly480=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2132874	NM_000843.4(GRM6):c.1708G>A (p.Gly570Ser)	GRM6, ZNF454 (G570S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2131833	NM_000843.4(GRM6):c.2437-10C>G	GRM6, ZNF454	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2126341	NM_000843.4(GRM6):c.2140G>T (p.Ala714Ser)	GRM6, ZNF454 (A714S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2114602	NM_000843.4(GRM6):c.2276T>G (p.Leu759Arg)	GRM6, ZNF454 (L759R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2110436	NM_000843.4(GRM6):c.2204C>T (p.Pro735Leu)	GRM6, ZNF454 (P735L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2110212	NM_000843.4(GRM6):c.1869C>G (p.Leu623=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2104097	NM_000843.4(GRM6):c.2295C>T (p.Cys765=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2097887	NM_000843.4(GRM6):c.2368T>C (p.Tyr790His)	GRM6, ZNF454 (Y790H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2092430	NM_000843.4(GRM6):c.2213_2221del (p.Ala738_Gly740del)	GRM6, ZNF454	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2090311	NM_000843.4(GRM6):c.2259C>A (p.Gly753=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2089061	NM_000843.4(GRM6):c.1044G>A (p.Leu348=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2083365	NM_000843.4(GRM6):c.1123C>T (p.Gln375Ter)	GRM6, ZNF454 (Q375*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2082449	NM_000843.4(GRM6):c.1080C>T (p.Phe360=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2080526	NM_000843.4(GRM6):c.1407G>A (p.Arg469=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2079098	NM_000843.4(GRM6):c.1354+14T>G	GRM6, ZNF454	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2065005	NM_000843.4(GRM6):c.1054C>A (p.Arg352Ser)	GRM6, ZNF454 (R352S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2063780	NM_000843.4(GRM6):c.2066C>G (p.Pro689Arg)	GRM6, ZNF454 (P689R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2062463	NM_000843.4(GRM6):c.1723C>T (p.Pro575Ser)	GRM6, ZNF454 (P575S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2052626	NM_000843.4(GRM6):c.1857G>C (p.Ser619=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2049867	NM_000843.4(GRM6):c.1691C>T (p.Pro564Leu)	GRM6, ZNF454 (P564L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2048110	NM_000843.4(GRM6):c.1576G>T (p.Glu526Ter)	GRM6, ZNF454 (E526*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2042120	NM_000843.4(GRM6):c.2223G>A (p.Val741=)	GRM6, ZNF454	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2040198	NM_000843.4(GRM6):c.1352A>G (p.Asn451Ser)	ZNF454, GRM6 (N451S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2032299	NM_000843.4(GRM6):c.1236_1243dup (p.Leu415fs)	GRM6, ZNF454 (L415fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2023133	NM_000843.4(GRM6):c.1327C>T (p.Gln443Ter)	GRM6, ZNF454 (Q443*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2019857	NM_000843.4(GRM6):c.2437-16C>T	GRM6, ZNF454	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2017346	NM_000843.4(GRM6):c.1465_1466insAAGTGGGC (p.Ala489fs)	GRM6, ZNF454 (A489fs)	Insertion (frameshift variant)	not provided	GPathogenic

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