ClinVar for Gene (Select 79882) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3334058	NM_024824.5(ZC3H14):c.929A>G (p.His310Arg)	ZC3H14 (H310R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334057	NM_024824.5(ZC3H14):c.398C>A (p.Thr133Lys)	ZC3H14 (T99K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3334055	NM_024824.5(ZC3H14):c.467T>C (p.Met156Thr)	ZC3H14 (M122T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3334054	NM_024824.5(ZC3H14):c.1724A>G (p.Asp575Gly)	ZC3H14 (D395G +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3334053	NM_024824.5(ZC3H14):c.1433T>C (p.Val478Ala)	ZC3H14 (V453A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334052	NM_024824.5(ZC3H14):c.547G>A (p.Asp183Asn)	ZC3H14 (D149N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334051	NM_024824.5(ZC3H14):c.375A>T (p.Glu125Asp)	ZC3H14 (E125D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3275362	NM_183387.3(EML5):c.4751C>T (p.Thr1584Met)	EML5, ZC3H14 (T1581M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3275358	NM_183387.3(EML5):c.5887G>A (p.Asp1963Asn)	EML5, ZC3H14 (D1955N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3275356	NM_183387.3(EML5):c.5272G>C (p.Val1758Leu)	EML5, ZC3H14 (V1755L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3192326	NM_024824.5(ZC3H14):c.955G>A (p.Asp319Asn)	ZC3H14 (D164N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192325	NM_024824.5(ZC3H14):c.696G>T (p.Leu232Phe)	ZC3H14 (L198F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192324	NM_024824.5(ZC3H14):c.368G>A (p.Arg123Lys)	ZC3H14 (R123K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3192323	NM_024824.5(ZC3H14):c.2048G>A (p.Arg683His)	ZC3H14 (R253H +25 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192321	NM_024824.5(ZC3H14):c.1544G>C (p.Ser515Thr)	ZC3H14 (S335T +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3192320	NM_024824.5(ZC3H14):c.1096G>A (p.Val366Ile)	ZC3H14 (V211I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088726	NM_183387.3(EML5):c.5911A>G (p.Lys1971Glu)	EML5, ZC3H14 (K1963E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3088725	NM_183387.3(EML5):c.5807A>T (p.Lys1936Ile)	EML5, ZC3H14 (K1936I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3088724	NM_183387.3(EML5):c.5561G>T (p.Arg1854Leu)	EML5, ZC3H14 (R1854L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3088723	NM_183387.3(EML5):c.5495T>C (p.Phe1832Ser)	EML5, ZC3H14 (F1824S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3088722	NM_183387.3(EML5):c.5237C>T (p.Ala1746Val)	EML5, ZC3H14 (A1738V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3088721	NM_183387.3(EML5):c.5207T>C (p.Met1736Thr)	EML5, ZC3H14 (M1728T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3088720	NM_183387.3(EML5):c.5174C>T (p.Thr1725Ile)	EML5, ZC3H14 (T1722I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3088719	NM_183387.3(EML5):c.5019G>T (p.Lys1673Asn)	EML5, ZC3H14 (K1670N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3088718	NM_183387.3(EML5):c.4952G>A (p.Arg1651His)	EML5, ZC3H14 (R1643H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3088717	NM_183387.3(EML5):c.4846A>C (p.Met1616Leu)	EML5, ZC3H14 (M1608L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3088716	NM_183387.3(EML5):c.4817C>T (p.Ala1606Val)	EML5, ZC3H14 (A1598V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3088715	NM_183387.3(EML5):c.4723G>A (p.Ala1575Thr)	EML5, ZC3H14 (A1575T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3058481	NM_024824.5(ZC3H14):c.429C>T (p.Val143=)	ZC3H14	Single nucleotide variant (synonymous variant +2 more)	ZC3H14-related disorder	GLikely benign
Select item 3045198	NM_024824.5(ZC3H14):c.51G>A (p.Gly17=)	ZC3H14	Single nucleotide variant (synonymous variant +2 more)	ZC3H14-related disorder	GLikely benign
Select item 3041375	NM_024824.5(ZC3H14):c.714G>A (p.Gln238=)	ZC3H14	Single nucleotide variant (synonymous variant +1 more)	ZC3H14-related disorder	GLikely benign
Select item 3032774	NM_024824.5(ZC3H14):c.153G>C (p.Leu51=)	ZC3H14	Single nucleotide variant (synonymous variant +2 more)	ZC3H14-related disorder	GLikely benign
Select item 3026487	NM_024824.5(ZC3H14):c.1746C>T (p.Asn582=)	ZC3H14	Single nucleotide variant (intron variant +2 more)	not provided	GLikely benign
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	IFI27L1, IGHA2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2644442	NM_183387.3(EML5):c.4812C>T (p.Ile1604=)	ZC3H14, EML5	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2644441	NM_024824.5(ZC3H14):c.2184A>G (p.Lys728=)	ZC3H14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2644440	NM_024824.5(ZC3H14):c.1968T>C (p.His656=)	ZC3H14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2644439	NM_024824.5(ZC3H14):c.1929T>C (p.Tyr643=)	ZC3H14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2644438	NM_024824.5(ZC3H14):c.1539T>C (p.Pro513=)	ZC3H14	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2644437	NM_024824.5(ZC3H14):c.1280-1664C>G	ZC3H14 (T115S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2644436	NM_024824.5(ZC3H14):c.1187C>T (p.Ala396Val)	ZC3H14 (A241V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2637763	NM_024824.5(ZC3H14):c.1571del (p.Gly524fs)	ZC3H14 (G344fs +5 more)	Deletion (frameshift variant +2 more)	not specified	GUncertain significance
Select item 2621960	NM_024824.5(ZC3H14):c.439T>C (p.Tyr147His)	ZC3H14 (Y113H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2613251	NM_183387.3(EML5):c.4993C>T (p.Arg1665Cys)	EML5, ZC3H14 (R1665C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2604346	NM_024824.5(ZC3H14):c.1234A>G (p.Ile412Val)	ZC3H14 (I257V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2604272	NM_024824.5(ZC3H14):c.1748C>T (p.Ala583Val)	ZC3H14 (A375V +15 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599800	NM_024824.5(ZC3H14):c.815C>T (p.Thr272Met)	ZC3H14 (T117M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591703	NM_183387.3(EML5):c.5588A>G (p.Lys1863Arg)	EML5, ZC3H14 (K1855R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2570894	GRCh37/hg19 14q31.3-32.13(chr14:88401076-94725706)x1	ASB2, ATXN3 +48 more	Copy number loss	not provided	GPathogenic
Select item 2561333	NM_183387.3(EML5):c.5624C>G (p.Thr1875Ser)	EML5, ZC3H14 (T1872S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2553584	NM_183387.3(EML5):c.4746C>G (p.Asn1582Lys)	EML5, ZC3H14 (N1574K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2549662	NM_183387.3(EML5):c.5449G>C (p.Gly1817Arg)	EML5, ZC3H14 (G1814R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2538661	NM_183387.3(EML5):c.4539A>C (p.Lys1513Asn)	EML5, ZC3H14 (K1505N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2531934	NM_024824.5(ZC3H14):c.2171G>A (p.Arg724Gln)	ZC3H14 (R569Q +25 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513107	NM_024824.5(ZC3H14):c.922T>A (p.Phe308Ile)	ZC3H14 (F274I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510641	NM_183387.3(EML5):c.4694T>A (p.Leu1565Gln)	EML5, ZC3H14 (L1557Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2494794	NM_024824.5(ZC3H14):c.839A>C (p.Asn280Thr)	ZC3H14 (N125T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489485	NM_024824.5(ZC3H14):c.1455G>C (p.Glu485Asp)	ZC3H14 (E305D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486717	NM_024824.5(ZC3H14):c.1273A>C (p.Asn425His)	ZC3H14 (N270H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2468387	NM_024824.5(ZC3H14):c.634A>G (p.Ile212Val)	ZC3H14 (I178V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2426470	NC_000014.8:g.(?_88391407)_(89343754_?)dup	EML5, GALC +6 more	Duplication	Leber congenital amaurosis 3	GUncertain significance
Select item 2408029	NM_183387.3(EML5):c.5570A>G (p.Tyr1857Cys)	EML5, ZC3H14 (Y1857C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2392276	NM_024824.5(ZC3H14):c.250A>G (p.Lys84Glu)	ZC3H14 (K84E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2389426	NM_183387.3(EML5):c.5597T>C (p.Met1866Thr)	EML5, ZC3H14 (M1858T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2366978	NM_183387.3(EML5):c.4706G>A (p.Arg1569Gln)	EML5, ZC3H14 (R1561Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2336752	NM_024824.5(ZC3H14):c.1894G>A (p.Glu632Lys)	ZC3H14 (E346K +15 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319103	NM_024824.5(ZC3H14):c.2176G>A (p.Ala726Thr)	ZC3H14 (A415T +25 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313186	NM_183387.3(EML5):c.5468T>C (p.Ile1823Thr)	EML5, ZC3H14 (I1820T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2305023	NM_183387.3(EML5):c.4555G>A (p.Gly1519Ser)	EML5, ZC3H14 (G1519S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2302868	NM_183387.3(EML5):c.4844C>T (p.Ala1615Val)	EML5, ZC3H14 (A1612V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2302353	NM_024824.5(ZC3H14):c.1378G>T (p.Val460Phe)	ZC3H14 (V280F +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283403	NM_024824.5(ZC3H14):c.1963A>G (p.Thr655Ala)	ZC3H14 (T490A +15 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276759	NM_024824.5(ZC3H14):c.2116C>A (p.Gln706Lys)	ZC3H14 (Q550K +25 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275958	NM_024824.5(ZC3H14):c.1307G>A (p.Arg436Gln)	ZC3H14 (R138Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2260993	NM_183387.3(EML5):c.5417A>G (p.Glu1806Gly)	EML5, ZC3H14 (E1806G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2226399	NM_024824.5(ZC3H14):c.1610A>T (p.Glu537Val)	ZC3H14 (E357V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2213157	NM_024824.5(ZC3H14):c.2033G>A (p.Ser678Asn)	ZC3H14 (S248N +25 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210100	NM_024824.5(ZC3H14):c.1987G>A (p.Val663Ile)	ZC3H14 (V507I +15 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807775	GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	ADSS1, AHNAK2 +185 more	Copy number gain	not provided	GPathogenic
Select item 1807735	GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3	OTUB2, PAPOLA +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 1807575	GRCh37/hg19 14q31.3-32.11(chr14:85366999-90760040)x3	FOXN3, GALC +13 more	Copy number gain	not provided	GUncertain significance
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1684249	NM_024824.5(ZC3H14):c.1354+15A>G	ZC3H14	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1675546	NM_024824.5(ZC3H14):c.1280-1960T>A	ZC3H14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1527834	GRCh37/hg19 14q31.3(chr14:88910135-89320435)	EML5, PTPN21 +2 more	Copy number loss	not specified	GUncertain significance
Select item 1527831	GRCh37/hg19 14q31.3-32.13(chr14:88345625-94773741)	ASB2, ATXN3 +50 more	Copy number loss	not specified	GPathogenic
Select item 1527830	GRCh37/hg19 14q31.2-31.3(chr14:84325247-89218538)	EML5, FLRT2 +6 more	Copy number loss	not specified	GUncertain significance
Select item 1340413	GRCh37/hg19 14q31.3(chr14:88988441-89305352)x1	EML5, PTPN21 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1337189	NM_024824.5(ZC3H14):c.842C>T (p.Ser281Leu)	ZC3H14 (S126L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1337008	NM_024824.5(ZC3H14):c.1071G>A (p.Lys357=)	ZC3H14	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1336691	NM_024824.5(ZC3H14):c.79+14dup	ZC3H14	Duplication (intron variant)	not specified	GUncertain significance
Select item 1031410	NM_024824.5(ZC3H14):c.311G>A (p.Arg104Gln)	ZC3H14 (R104Q +1 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 56	GUncertain significance
Select item 1031409	NM_024824.5(ZC3H14):c.1133A>G (p.Lys378Arg)	ZC3H14 (K223R +2 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 56 +1 more	GUncertain significance
Select item 1030880	NM_024824.5(ZC3H14):c.1232C>T (p.Pro411Leu)	ZC3H14 (P377L +2 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 56	GUncertain significance
Select item 1029539	NM_024824.5(ZC3H14):c.1280-1856A>G	ZC3H14 (N51S)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 56	GUncertain significance
Select item 981893	NM_024824.5(ZC3H14):c.1279+9T>C	ZC3H14	Single nucleotide variant (intron variant)	Intellectual disability	GUncertain significance
Select item 915328	NM_024824.5(ZC3H14):c.1424C>T (p.Ser475Phe)	ZC3H14 (S450F +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 56	GLikely benign
Select item 813277	GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1	SERPINA10, SERPINA11 +74 more	Copy number loss	Deletion syndrome	GPathogenic
Select item 768673	NM_024824.5(ZC3H14):c.2118A>G (p.Gln706=)	ZC3H14	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign

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