EIF2AK3[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2988642	NM_004836.7(EIF2AK3):c.2036+20A>G	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1667771	NM_004836.7(EIF2AK3):c.2036+12T>C	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1653275	NM_004836.7(EIF2AK3):c.2036+11T>G	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1613069	NM_004836.7(EIF2AK3):c.2036+11T>C	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878584	NM_004836.7(EIF2AK3):c.2036+7_2036+10del	EIF2AK3	Microsatellite (splice donor variant)	not provided	GLikely benign
Select item 1660859	NM_004836.7(EIF2AK3):c.2036+9C>T	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1561221	NM_004836.7(EIF2AK3):c.2034A>G (p.Glu678=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012680	NM_004836.7(EIF2AK3):c.2031T>C (p.Asp677=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2852264	NM_004836.7(EIF2AK3):c.2026A>T (p.Lys676Ter)	EIF2AK3 (K676* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2735861	NM_004836.7(EIF2AK3):c.2019T>C (p.Ile673=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1418293	NM_004836.7(EIF2AK3):c.2018T>C (p.Ile673Thr)	EIF2AK3 (I522T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 337410	NM_004836.7(EIF2AK3):c.2014G>A (p.Glu672Lys)	EIF2AK3 (E672K +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia +1 more	GBenign/Likely benign
Select item 3087866	NM_004836.7(EIF2AK3):c.2010G>A (p.Met670Ile)	EIF2AK3 (M519I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2734822	NM_004836.7(EIF2AK3):c.1999dup (p.Gln667fs)	EIF2AK3 (Q516fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1973386	NM_004836.7(EIF2AK3):c.1999C>G (p.Gln667Glu)	EIF2AK3 (Q667E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014569	NM_004836.7(EIF2AK3):c.1977C>T (p.Leu659=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2804491	NM_004836.7(EIF2AK3):c.1977C>G (p.Leu659=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2707183	NM_004836.7(EIF2AK3):c.1970C>T (p.Ala657Val)	EIF2AK3 (A506V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1987948	NM_004836.7(EIF2AK3):c.1962T>C (p.Tyr654=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1179141	NM_004836.7(EIF2AK3):c.1936_1958del (p.Leu646fs)	EIF2AK3 (L495fs +1 more)	Deletion (frameshift variant)	Wolcott-Rallison dysplasia	GPathogenic
Select item 2838367	NM_004836.7(EIF2AK3):c.1943_1946dup (p.Gly650fs)	EIF2AK3 (G499fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 897011	NM_004836.7(EIF2AK3):c.1947G>A (p.Pro649=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1460796	NM_004836.7(EIF2AK3):c.1946C>T (p.Pro649Leu)	EIF2AK3 (P498L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3016582	NM_004836.7(EIF2AK3):c.1944C>T (p.His648=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2675010	NM_004836.7(EIF2AK3):c.1912C>T (p.Arg638Ter)	EIF2AK3 (R487* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1595689	NM_004836.7(EIF2AK3):c.1912C>A (p.Arg638=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2792918	NM_004836.7(EIF2AK3):c.1905G>A (p.Lys635=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864963	NM_004836.7(EIF2AK3):c.1899G>C (p.Arg633=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1961336	NM_004836.7(EIF2AK3):c.1898G>A (p.Arg633Gln)	EIF2AK3 (R482Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2203113	NM_004836.7(EIF2AK3):c.1897C>T (p.Arg633Trp)	EIF2AK3 (R482W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1443323	NM_004836.7(EIF2AK3):c.1891T>G (p.Leu631Val)	EIF2AK3 (L480V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2074595	NM_004836.7(EIF2AK3):c.1890A>G (p.Glu630=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1429813	NM_004836.7(EIF2AK3):c.1888G>A (p.Glu630Lys)	EIF2AK3 (E479K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1603445	NM_004836.7(EIF2AK3):c.1887-4T>A	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2705508	NM_004836.7(EIF2AK3):c.1887-5T>G	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966686	NM_004836.7(EIF2AK3):c.1887-9_1887-6del	EIF2AK3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2963038	NM_004836.7(EIF2AK3):c.1887-11CT[2]	EIF2AK3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2959626	NM_004836.7(EIF2AK3):c.1887-7C>T	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1702401	NM_004836.7(EIF2AK3):c.1887-9C>G	EIF2AK3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2770014	NM_004836.7(EIF2AK3):c.1887-10T>A	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974629	NM_004836.7(EIF2AK3):c.1887-19A>C	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2747119	NM_004836.7(EIF2AK3):c.1887-19A>T	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1920457	NM_004836.7(EIF2AK3):c.1887-20A>T	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180226	NM_004836.7(EIF2AK3):c.1887-298dup	EIF2AK3	Duplication (intron variant)	not provided	GBenign
Select item 2805941	NM_004836.7(EIF2AK3):c.1886+20G>A	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2835529	NM_004836.7(EIF2AK3):c.1886+19A>C	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016532	NM_004836.7(EIF2AK3):c.1886+18C>T	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796845	NM_004836.7(EIF2AK3):c.1886+16T>G	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978142	NM_004836.7(EIF2AK3):c.1886+14C>T	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803528	NM_004836.7(EIF2AK3):c.1886+13A>G	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2743583	NM_004836.7(EIF2AK3):c.1886+11G>A	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2675019	NM_004836.7(EIF2AK3):c.1886+2T>C	EIF2AK3	Single nucleotide variant (splice donor variant)	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 2971851	NM_004836.7(EIF2AK3):c.1884T>C (p.Asn628=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1035692	NM_004836.7(EIF2AK3):c.1883A>G (p.Asn628Ser)	EIF2AK3 (N628S +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia +1 more	GUncertain significance
Select item 3004328	NM_004836.7(EIF2AK3):c.1881C>T (p.Pro627=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2797694	NM_004836.7(EIF2AK3):c.1875T>C (p.Arg625=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1492278	NM_004836.7(EIF2AK3):c.1873C>T (p.Arg625Cys)	EIF2AK3 (R625C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1368071	NM_004836.7(EIF2AK3):c.1873C>G (p.Arg625Gly)	EIF2AK3 (R625G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2748910	NM_004836.7(EIF2AK3):c.1842_1845dup (p.Asp616delinsArgTer)	EIF2AK3	Duplication (nonsense)	not provided	GPathogenic
Select item 1467999	NM_004836.7(EIF2AK3):c.1841T>C (p.Val614Ala)	EIF2AK3 (V614A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2707315	NM_004836.7(EIF2AK3):c.1835del (p.Asn612fs)	EIF2AK3 (N612fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2033149	NM_004836.7(EIF2AK3):c.1824del (p.Phe608fs)	EIF2AK3 (F457fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 128985	NM_004836.7(EIF2AK3):c.1791A>G (p.Gln597=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2808188	NM_004836.7(EIF2AK3):c.1779T>C (p.Phe593=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2856178	NM_004836.7(EIF2AK3):c.1776T>C (p.Asp592=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1666859	NM_004836.7(EIF2AK3):c.1773T>G (p.Thr591=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2113395	NM_004836.7(EIF2AK3):c.1770A>C (p.Leu590=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1652405	NM_004836.7(EIF2AK3):c.1770A>G (p.Leu590=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796615	NM_004836.7(EIF2AK3):c.1767T>C (p.Tyr589=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1028302	NM_004836.7(EIF2AK3):c.1764-2A>G	EIF2AK3	Single nucleotide variant (splice acceptor variant)	Wolcott-Rallison dysplasia	GLikely pathogenic
Select item 3021447	NM_004836.7(EIF2AK3):c.1764-7T>C	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2694377	NM_004836.7(EIF2AK3):c.1764-10_1764-8del	EIF2AK3	Deletion (intron variant)	not provided	GLikely benign
Select item 2982562	NM_004836.7(EIF2AK3):c.1764-10C>T	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2766384	NM_004836.7(EIF2AK3):c.1764-12C>A	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991105	NM_004836.7(EIF2AK3):c.1764-14A>G	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2031993	NM_004836.7(EIF2AK3):c.1764-17T>G	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1924887	NM_004836.7(EIF2AK3):c.1764-20A>C	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2727411	NM_004836.7(EIF2AK3):c.1763+20C>T	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2707468	NM_004836.7(EIF2AK3):c.1763+17A>G	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1532807	NM_004836.7(EIF2AK3):c.1763+12A>G	EIF2AK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 128984	NM_004836.7(EIF2AK3):c.1763+6A>T	EIF2AK3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2126497	NM_004836.7(EIF2AK3):c.1763+2dup	EIF2AK3	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 5875	NM_004836.7(EIF2AK3):c.1763G>A (p.Arg588Gln)	EIF2AK3 (R588Q +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia	GPathogenic
Select item 2578862	NM_004836.7(EIF2AK3):c.1762C>T (p.Arg588Ter)	EIF2AK3 (R437* +1 more)	Single nucleotide variant (nonsense)	Wolcott-Rallison dysplasia +1 more	GPathogenic
Select item 128983	NM_004836.7(EIF2AK3):c.1756A>T (p.Ile586Leu)	EIF2AK3 (I586L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1488740	NM_004836.7(EIF2AK3):c.1754A>C (p.Tyr585Ser)	EIF2AK3 (Y585S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 393382	NM_004836.7(EIF2AK3):c.1751G>A (p.Gly584Glu)	EIF2AK3 (G584E +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +3 more	GConflicting classifications of pathogenicity
Select item 2754232	NM_004836.7(EIF2AK3):c.1743A>G (p.Lys581=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2054337	NM_004836.7(EIF2AK3):c.1740A>T (p.Ile580=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 897012	NM_004836.7(EIF2AK3):c.1726A>C (p.Ser576Arg)	EIF2AK3 (S425R +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia	GUncertain significance
Select item 2101554	NM_004836.7(EIF2AK3):c.1720G>C (p.Asp574His)	EIF2AK3 (D423H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 337411	NM_004836.7(EIF2AK3):c.1719T>C (p.Asn573=)	EIF2AK3	Single nucleotide variant (synonymous variant)	Wolcott-Rallison dysplasia +1 more	GConflicting classifications of pathogenicity
Select item 1983203	NM_004836.7(EIF2AK3):c.1717A>C (p.Asn573His)	EIF2AK3 (N422H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2057399	NM_004836.7(EIF2AK3):c.1711G>A (p.Glu571Lys)	EIF2AK3 (E571K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2860793	NM_004836.7(EIF2AK3):c.1710T>G (p.Gly570=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1924560	NM_004836.7(EIF2AK3):c.1697A>G (p.Asp566Gly)	EIF2AK3 (D566G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 337412	NM_004836.7(EIF2AK3):c.1697A>T (p.Asp566Val)	EIF2AK3 (D566V +1 more)	Single nucleotide variant (missense variant)	Wolcott-Rallison dysplasia +4 more	GConflicting classifications of pathogenicity
Select item 2505984	NM_004836.7(EIF2AK3):c.1694_1695del (p.Lys564_Tyr565insTer)	EIF2AK3	Microsatellite (nonsense)	not provided	GPathogenic
Select item 1608800	NM_004836.7(EIF2AK3):c.1695T>C (p.Tyr565=)	EIF2AK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1941719	NM_004836.7(EIF2AK3):c.1681A>T (p.Thr561Ser)	EIF2AK3 (T561S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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