Related gene-specific medical variations for Gene (Select 79882) - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2644442	NM_183387.3(EML5):c.4812C>T (p.Ile1604=)	EML5, ZC3H14	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 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 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 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 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 2389426	NM_183387.3(EML5):c.5597T>C (p.Met1866Thr)	EML5, ZC3H14 (M1858T +2 more)	Single nucleotide variant (3 prime UTR 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 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 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 709293	NM_183387.3(EML5):c.5360C>A (p.Ala1787Glu)	EML5, ZC3H14 (A1787E)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 623853	NM_024824.5(ZC3H14):c.294C>T (p.Asn98=)	ZC3H14	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 445396	NM_024824.5(ZC3H14):c.235+14_235+15insATT	ZC3H14	Insertion (intron variant)	not provided	GLikely benign
Select item 402826	NM_183387.3(EML5):c.5203-25dup	EML5, ZC3H14	Duplication (3 prime UTR variant +1 more)	not specified	GBenign

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Items: 31