"Ambry Genetics"[submitter] AND "ZNF142"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2374351	NM_032726.4(PLCD4):c.1561T>C (p.Ser521Pro)	PLCD4, ZNF142 (S521P)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2334900	NM_032726.4(PLCD4):c.1645C>T (p.Arg549Cys)	ZNF142, PLCD4 (R549C)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2383776	NM_032726.4(PLCD4):c.1646G>A (p.Arg549His)	ZNF142, PLCD4 (R549H)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2206234	NM_032726.4(PLCD4):c.1722G>A (p.Met574Ile)	PLCD4, ZNF142 (M574I)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2226382	NM_032726.4(PLCD4):c.1792G>A (p.Gly598Ser)	ZNF142, PLCD4 (G598S)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2205385	NM_032726.4(PLCD4):c.1925T>C (p.Val642Ala)	PLCD4, ZNF142 (V642A)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2298004	NM_032726.4(PLCD4):c.1988G>A (p.Arg663His)	ZNF142, PLCD4 (R663H)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2338933	NM_032726.4(PLCD4):c.2029A>G (p.Asn677Asp)	PLCD4, ZNF142 (N677D)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2346245	NM_032726.4(PLCD4):c.2119G>A (p.Asp707Asn)	PLCD4, ZNF142 (D707N)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2617298	NM_032726.4(PLCD4):c.2132G>A (p.Arg711Gln)	PLCD4, ZNF142 (R711Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2546906	NM_032726.4(PLCD4):c.2156C>T (p.Thr719Ile)	PLCD4, ZNF142 (T719I)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2609557	NM_032726.4(PLCD4):c.2174T>C (p.Met725Thr)	PLCD4, ZNF142 (M725T)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2207102	NM_032726.4(PLCD4):c.2189G>A (p.Arg730His)	ZNF142, PLCD4 (R730H)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2487790	NM_001379659.1(ZNF142):c.5638G>A (p.Ala1880Thr)	ZNF142 (A1517T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2606912	NM_001379659.1(ZNF142):c.5594T>C (p.Leu1865Pro)	ZNF142 (L1865P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273800	NM_001379659.1(ZNF142):c.5518G>A (p.Val1840Ile)	ZNF142 (V1477I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2300940	NM_001379659.1(ZNF142):c.5447C>T (p.Thr1816Ile)	ZNF142 (T1616I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622361	NM_001379659.1(ZNF142):c.5408G>T (p.Arg1803Leu)	ZNF142 (R1603L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509748	NM_001379659.1(ZNF142):c.5399G>A (p.Arg1800His)	ZNF142 (R1800H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342550	NM_001379659.1(ZNF142):c.5368G>A (p.Ala1790Thr)	ZNF142 (A1790T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459307	NM_001379659.1(ZNF142):c.5306A>G (p.Gln1769Arg)	ZNF142 (Q1569R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476534	NM_001379659.1(ZNF142):c.5291C>G (p.Ala1764Gly)	ZNF142 (A1401G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513446	NM_001379659.1(ZNF142):c.5288G>A (p.Arg1763Gln)	ZNF142 (R1763Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 807526	NM_001379659.1(ZNF142):c.5254C>T (p.Arg1752Cys)	ZNF142 (R1389C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2363240	NM_001379659.1(ZNF142):c.5218G>A (p.Glu1740Lys)	ZNF142 (E1377K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265686	NM_001379659.1(ZNF142):c.4949G>A (p.Arg1650His)	ZNF142 (R1650H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244418	NM_001379659.1(ZNF142):c.4943G>C (p.Gly1648Ala)	ZNF142 (G1285A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487789	NM_001379659.1(ZNF142):c.4904A>G (p.His1635Arg)	ZNF142 (H1272R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348881	NM_001379659.1(ZNF142):c.4900C>T (p.Arg1634Cys)	ZNF142 (R1434C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 983381	NM_001379659.1(ZNF142):c.4880C>T (p.Pro1627Leu)	ZNF142 (P1264L +2 more)	Single nucleotide variant (missense variant)	Global developmental delay +1 more	GUncertain significance
Select item 2309230	NM_001379659.1(ZNF142):c.4879C>T (p.Pro1627Ser)	ZNF142 (P1264S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482665	NM_001379659.1(ZNF142):c.4828G>A (p.Val1610Met)	ZNF142 (V1410M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240741	NM_001379659.1(ZNF142):c.4792C>T (p.His1598Tyr)	ZNF142 (H1235Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277511	NM_001379659.1(ZNF142):c.4775G>A (p.Arg1592Gln)	ZNF142 (R1392Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1030151	NM_001379659.1(ZNF142):c.4717C>T (p.Arg1573Trp)	ZNF142 (R1210W +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with impaired speech and hyperkinetic movements +1 more	GUncertain significance
Select item 1683280	NM_001379659.1(ZNF142):c.4691C>G (p.Pro1564Arg)	ZNF142 (P1201R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2211892	NM_001379659.1(ZNF142):c.4631G>A (p.Arg1544Gln)	ZNF142 (R1181Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2328630	NM_001379659.1(ZNF142):c.4622C>T (p.Ala1541Val)	ZNF142 (A1541V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209859	NM_001379659.1(ZNF142):c.4598G>T (p.Cys1533Phe)	ZNF142 (C1170F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212904	NM_001379659.1(ZNF142):c.4594C>T (p.Arg1532Cys)	ZNF142 (R1169C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321210	NM_001379659.1(ZNF142):c.4571C>T (p.Thr1524Ile)	ZNF142 (T1161I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310159	NM_001379659.1(ZNF142):c.4453G>C (p.Ala1485Pro)	ZNF142 (A1285P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240544	NM_001379659.1(ZNF142):c.4387G>A (p.Asp1463Asn)	ZNF142 (D1463N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396141	NM_001379659.1(ZNF142):c.4379C>T (p.Pro1460Leu)	ZNF142 (P1260L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600669	NM_001379659.1(ZNF142):c.4354G>A (p.Asp1452Asn)	ZNF142 (D1089N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508997	NM_001379659.1(ZNF142):c.4217A>G (p.Asp1406Gly)	ZNF142 (D1043G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362648	NM_001379659.1(ZNF142):c.4151G>A (p.Arg1384His)	ZNF142 (R1184H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210899	NM_001379659.1(ZNF142):c.4094G>A (p.Arg1365His)	ZNF142 (R1165H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508047	NM_001379659.1(ZNF142):c.4091C>A (p.Ala1364Asp)	ZNF142 (A1001D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344885	NM_001379659.1(ZNF142):c.4066C>T (p.Arg1356Trp)	ZNF142 (R1356W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2564399	NM_001379659.1(ZNF142):c.4046C>T (p.Ala1349Val)	ZNF142 (A1349V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334394	NM_001379659.1(ZNF142):c.3995C>G (p.Ser1332Cys)	ZNF142 (S1132C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231947	NM_001379659.1(ZNF142):c.3904del (p.Ala1302fs)	ZNF142 (A1102fs +2 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2553828	NM_001379659.1(ZNF142):c.3860G>A (p.Ser1287Asn)	ZNF142 (S1087N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2372787	NM_001379659.1(ZNF142):c.3809C>T (p.Pro1270Leu)	ZNF142 (P907L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522894	NM_001379659.1(ZNF142):c.3758G>A (p.Arg1253His)	ZNF142 (R1253H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350840	NM_001379659.1(ZNF142):c.3757C>T (p.Arg1253Cys)	ZNF142 (R890C +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2335529	NM_001379659.1(ZNF142):c.3750G>C (p.Arg1250Ser)	ZNF142 (R1250S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494226	NM_001379659.1(ZNF142):c.3668A>G (p.Gln1223Arg)	ZNF142 (Q1223R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547282	NM_001379659.1(ZNF142):c.3662T>G (p.Phe1221Cys)	ZNF142 (F858C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297975	NM_001379659.1(ZNF142):c.3614C>T (p.Pro1205Leu)	ZNF142 (P842L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265977	NM_001379659.1(ZNF142):c.3586C>T (p.Pro1196Ser)	ZNF142 (P996S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231946	NM_001379659.1(ZNF142):c.3311C>G (p.Ser1104Ter)	ZNF142 (S741* +2 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2355770	NM_001379659.1(ZNF142):c.3208G>A (p.Glu1070Lys)	ZNF142 (E1070K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621333	NM_001379659.1(ZNF142):c.3188G>A (p.Arg1063Gln)	ZNF142 (R1063Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1030147	NM_001379659.1(ZNF142):c.3139C>T (p.Arg1047Trp)	ZNF142 (R847W +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with impaired speech and hyperkinetic movements +2 more	GUncertain significance
Select item 2371279	NM_001379659.1(ZNF142):c.3136C>T (p.Arg1046Cys)	ZNF142 (R846C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492008	NM_001379659.1(ZNF142):c.2963C>A (p.Pro988His)	ZNF142 (P988H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215995	NM_001379659.1(ZNF142):c.2840C>T (p.Thr947Ile)	ZNF142 (T747I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1335441	NM_001379659.1(ZNF142):c.2554T>G (p.Leu852Val)	ZNF142 (L489V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2483591	NM_001379659.1(ZNF142):c.2471C>T (p.Pro824Leu)	ZNF142 (P461L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334190	NM_001379659.1(ZNF142):c.2450C>T (p.Ala817Val)	ZNF142 (A817V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399076	NM_001379659.1(ZNF142):c.2378G>A (p.Arg793His)	ZNF142 (R593H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598669	NM_001379659.1(ZNF142):c.2158G>C (p.Ala720Pro)	ZNF142 (A357P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283830	NM_001379659.1(ZNF142):c.2116C>T (p.Arg706Trp)	ZNF142 (R706W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454659	NM_001379659.1(ZNF142):c.2066A>G (p.Gln689Arg)	ZNF142 (Q489R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510041	NM_001379659.1(ZNF142):c.2064C>G (p.Asn688Lys)	ZNF142 (N688K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366918	NM_001379659.1(ZNF142):c.2017C>T (p.Arg673Cys)	ZNF142 (R673C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535645	NM_001379659.1(ZNF142):c.1949C>T (p.Thr650Ile)	ZNF142 (T650I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328176	NM_001379659.1(ZNF142):c.1942A>C (p.Met648Leu)	ZNF142 (M285L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331278	NM_001379659.1(ZNF142):c.1921G>A (p.Val641Met)	ZNF142 (V441M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234303	NM_001379659.1(ZNF142):c.1853G>A (p.Arg618Gln)	ZNF142 (R618Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476747	NM_001379659.1(ZNF142):c.1794A>C (p.Glu598Asp)	ZNF142 (E398D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371989	NM_001379659.1(ZNF142):c.1717C>T (p.Arg573Cys)	ZNF142 (R210C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354710	NM_001379659.1(ZNF142):c.1558C>T (p.His520Tyr)	ZNF142 (H157Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601054	NM_001379659.1(ZNF142):c.1555C>T (p.Arg519Cys)	ZNF142 (R319C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491088	NM_001379659.1(ZNF142):c.1501A>G (p.Lys501Glu)	ZNF142 (K138E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610699	NM_001379659.1(ZNF142):c.1498C>T (p.Arg500Cys)	ZNF142 (R137C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609389	NM_001379659.1(ZNF142):c.1484A>G (p.Tyr495Cys)	ZNF142 (Y132C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321558	NM_001379659.1(ZNF142):c.1447C>T (p.Pro483Ser)	ZNF142 (P120S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394540	NM_001379659.1(ZNF142):c.1438G>A (p.Ala480Thr)	ZNF142 (A480T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274306	NM_001379659.1(ZNF142):c.1310A>G (p.His437Arg)	ZNF142 (H74R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538453	NM_001379659.1(ZNF142):c.1123C>T (p.Arg375Trp)	ZNF142 (R175W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274169	NM_001379659.1(ZNF142):c.1040G>A (p.Arg347Gln)	ZNF142 (R347Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2319292	NM_001379659.1(ZNF142):c.926G>C (p.Gly309Ala)	ZNF142 (G109A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2488227	NM_001379659.1(ZNF142):c.227T>C (p.Ile76Thr)	ZNF142 (I76T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2379753	NM_001379659.1(ZNF142):c.220G>A (p.Glu74Lys)	ZNF142 (E74K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2380820	NM_001379659.1(ZNF142):c.212G>A (p.Gly71Glu)	ZNF142 (G71E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2256208	NM_001379659.1(ZNF142):c.208C>T (p.Pro70Ser)	ZNF142 (P70S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2492869	NM_001379659.1(ZNF142):c.170G>C (p.Gly57Ala)	ZNF142 (G57A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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