"Ambry Genetics"[submitter] AND "EFTUD2"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2370453	NM_004247.4(EFTUD2):c.2906A>G (p.Asn969Ser)	EFTUD2 (N934S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 521038	NM_004247.4(EFTUD2):c.2595dup (p.Ser866fs)	EFTUD2 (S831fs +2 more)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 521130	NM_004247.4(EFTUD2):c.2562-1G>A	EFTUD2	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GPathogenic
Select item 754235	NM_004247.4(EFTUD2):c.2555G>A (p.Arg852Lys)	EFTUD2 (R817K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 985469	NM_004247.4(EFTUD2):c.2504_2505dup (p.Val836fs)	EFTUD2 (V801fs +2 more)	Microsatellite (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 522000	NM_004247.4(EFTUD2):c.2352dup (p.Arg785fs)	EFTUD2 (R750fs +2 more)	Duplication (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 986268	NM_004247.4(EFTUD2):c.2306G>A (p.Gly769Asp)	EFTUD2 (G734D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1964205	NM_004247.4(EFTUD2):c.2299G>A (p.Val767Ile)	EFTUD2 (V757I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1380201	NM_004247.4(EFTUD2):c.2042A>G (p.Lys681Arg)	EFTUD2 (K681R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2280717	NM_004247.4(EFTUD2):c.1954G>T (p.Asp652Tyr)	EFTUD2 (D617Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294882	NM_004247.4(EFTUD2):c.1726A>G (p.Ile576Val)	EFTUD2 (I566V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1699394	NM_004247.4(EFTUD2):c.1585C>T (p.Arg529Cys)	EFTUD2 (R494C +2 more)	Single nucleotide variant (missense variant)	Mandibulofacial dysostosis-microcephaly syndrome +1 more	GUncertain significance
Select item 521747	NM_004247.4(EFTUD2):c.1570A>G (p.Ile524Val)	EFTUD2 (I524V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 985839	NM_004247.4(EFTUD2):c.1554del (p.Asp518fs)	EFTUD2 (D483fs +2 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2230030	NM_004247.4(EFTUD2):c.1484G>A (p.Arg495Gln)	EFTUD2 (R495Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521187	NM_004247.4(EFTUD2):c.1465_1466del (p.Gln489fs)	EFTUD2 (Q454fs +2 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 1707057	NM_004247.4(EFTUD2):c.1412A>T (p.Asp471Val)	EFTUD2 (D436V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2403275	NM_004247.4(EFTUD2):c.1181G>A (p.Arg394Gln)	EFTUD2 (R394Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 985398	NM_004247.4(EFTUD2):c.1061G>A (p.Arg354Gln)	EFTUD2 (R319Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 426481	NM_004247.4(EFTUD2):c.1058+1G>A	EFTUD2	Single nucleotide variant (splice donor variant)	Mandibulofacial dysostosis-microcephaly syndrome +2 more	GPathogenic
Select item 1314584	NM_004247.4(EFTUD2):c.1045T>G (p.Phe349Val)	EFTUD2 (F314V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2557420	NM_004247.4(EFTUD2):c.944G>A (p.Ser315Asn)	EFTUD2 (S305N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 426124	NM_004247.4(EFTUD2):c.702+1G>T	EFTUD2	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2589936	NM_004247.4(EFTUD2):c.545A>G (p.Lys182Arg)	EFTUD2 (K182R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463713	NM_004247.4(EFTUD2):c.335C>T (p.Thr112Met)	EFTUD2 (T77M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1189532	NM_004247.4(EFTUD2):c.290T>C (p.Val97Ala)	EFTUD2 (V62A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2542508	NM_004247.4(EFTUD2):c.228G>C (p.Glu76Asp)	EFTUD2 (E41D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2618624	NM_004247.4(EFTUD2):c.140A>G (p.Asp47Gly)	EFTUD2 (D12G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985834	NM_004247.4(EFTUD2):c.105+2T>G	EFTUD2	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GLikely pathogenic

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Items: 29