ClinVar for MedGen (Select 462008) - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254979	NM_030653.4(DDX11):c.409A>G (p.Arg137Gly)	DDX11 (R111G +1 more)	Single nucleotide variant (missense variant +3 more)	Warsaw breakage syndrome	GUncertain significance
Select item 3068717	NM_030653.4(DDX11):c.2182C>T (p.Arg728Cys)	DDX11 (R406C +5 more)	Single nucleotide variant (missense variant +2 more)	Warsaw breakage syndrome	GUncertain significance
Select item 2637847	NM_030653.4(DDX11):c.792+1G>A	DDX11	Single nucleotide variant (splice donor variant)	Warsaw breakage syndrome	GLikely pathogenic
Select item 2444347	NM_030653.4(DDX11):c.1630G>C (p.Ala544Pro)	DDX11 (A222P +5 more)	Single nucleotide variant (missense variant)	Warsaw breakage syndrome	GUncertain significance
Select item 2440725	NM_030653.4(DDX11):c.2087G>A (p.Cys696Tyr)	DDX11 (C374Y +5 more)	Single nucleotide variant (missense variant +1 more)	Warsaw breakage syndrome	GUncertain significance
Select item 2440724	NM_030653.4(DDX11):c.1234G>A (p.Gly412Ser)	DDX11 (G125S +5 more)	Single nucleotide variant (missense variant)	Warsaw breakage syndrome	GUncertain significance
Select item 1805319	NM_030653.4(DDX11):c.877C>T (p.His293Tyr)	DDX11 (H117Y +4 more)	Single nucleotide variant (missense variant)	Warsaw breakage syndrome	GUncertain significance
Select item 1805318	NM_030653.4(DDX11):c.1180G>A (p.Glu394Lys)	DDX11 (E107K +5 more)	Single nucleotide variant (missense variant)	Warsaw breakage syndrome	GUncertain significance
Select item 1711986	NM_030653.4(DDX11):c.2372G>A (p.Arg791Gln)	DDX11 (R741Q +2 more)	Single nucleotide variant (missense variant)	Warsaw breakage syndrome +2 more	GUncertain significance
Select item 1699047	NM_030653.4(DDX11):c.1862dup (p.Thr622fs)	DDX11 (T596fs +1 more)	Duplication (frameshift variant)	Warsaw breakage syndrome	GPathogenic
Select item 1339171	NM_030653.4(DDX11):c.1466A>T (p.Asn489Ile)	DDX11 (N463I +1 more)	Single nucleotide variant (missense variant)	Warsaw breakage syndrome	GUncertain significance
Select item 1339170	NM_030653.4(DDX11):c.2096T>C (p.Val699Ala)	DDX11 (V673A +1 more)	Single nucleotide variant (missense variant +1 more)	Warsaw breakage syndrome	GUncertain significance
Select item 1310138	NM_030653.4(DDX11):c.2692-1G>A	DDX11	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1255472	NM_030653.4(DDX11):c.2536+13G>A	DDX11	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1255471	NM_030653.4(DDX11):c.2271+18G>A	DDX11	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1255470	NM_030653.4(DDX11):c.2053-15C>T	DDX11	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1255469	NM_030653.4(DDX11):c.1983C>T (p.Leu661=)	DDX11	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1255468	NM_030653.4(DDX11):c.880+16A>G	DDX11	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1255467	NM_030653.4(DDX11):c.855T>C (p.Cys285=)	DDX11	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1255466	NM_030653.4(DDX11):c.684+8A>G	DDX11	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1255465	NM_030653.4(DDX11):c.638+15G>A	DDX11	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1032230	NM_030653.4(DDX11):c.2373-2A>G	DDX11	Single nucleotide variant (splice acceptor variant)	Warsaw breakage syndrome	GPathogenic
Select item 1031443	NM_030653.4(DDX11):c.1482+2T>C	DDX11	Single nucleotide variant (splice donor variant)	Warsaw breakage syndrome	GPathogenic
Select item 1028896	NM_030653.4(DDX11):c.2537-1G>A	DDX11	Single nucleotide variant (splice acceptor variant)	Warsaw breakage syndrome	GLikely pathogenic
Select item 992470	NM_030653.4(DDX11):c.1403dup (p.Ser469fs)	DDX11 (S443fs +1 more)	Duplication (frameshift variant)	Warsaw breakage syndrome +1 more	GPathogenic/Likely pathogenic
Select item 992360	NM_030653.4(DDX11):c.1672C>T (p.Arg558Ter)	DDX11 (R532* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 915422	NM_030653.4(DDX11):c.2017G>T (p.Glu673Ter)	DDX11 (E647* +1 more)	Single nucleotide variant (nonsense)	Warsaw breakage syndrome	GPathogenic
Select item 806856	NM_030653.4(DDX11):c.2230C>T (p.Gln744Ter)	DDX11 (Q694* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 802831	NM_030653.4(DDX11):c.2572G>A (p.Val858Ile)	DDX11 (V858I +3 more)	Single nucleotide variant (missense variant)	Warsaw breakage syndrome +1 more	GBenign
Select item 802830	NM_030653.4(DDX11):c.1819G>C (p.Ala607Pro)	DDX11 (A607P +1 more)	Single nucleotide variant (missense variant)	Warsaw breakage syndrome +1 more	GBenign/Likely benign
Select item 802829	NM_030653.4(DDX11):c.1699C>G (p.Gln567Glu)	DDX11 (Q541E +1 more)	Single nucleotide variant (missense variant)	Warsaw breakage syndrome +1 more	GBenign
Select item 768536	NM_030653.4(DDX11):c.639-10A>T	DDX11	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 638411	NM_030653.4(DDX11):c.2457+1G>T	DDX11	Single nucleotide variant (splice donor variant)	Warsaw breakage syndrome	GPathogenic
Select item 624563	NM_030653.4(DDX11):c.2576T>G (p.Val859Gly)	DDX11 (V859G +3 more)	Single nucleotide variant (missense variant)	Warsaw breakage syndrome	GUncertain significance
Select item 585158	NM_030653.4(DDX11):c.1888del (p.Arg630fs)	DDX11 (R604fs +1 more)	Deletion (frameshift variant)	Warsaw breakage syndrome	Gnot provided
Select item 585157	NM_030653.4(DDX11):c.2635C>T (p.Arg879Ter)	DDX11 (P877L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 421308	NM_030653.4(DDX11):c.1133G>C (p.Arg378Pro)	DDX11 (R378P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 252749	NM_030653.4(DDX11):c.1763-1G>C	DDX11	Single nucleotide variant (splice acceptor variant)	Warsaw breakage syndrome +1 more	GPathogenic
Select item 39995	NM_030653.4(DDX11):c.788G>A (p.Arg263Gln)	DDX11 (R263Q +1 more)	Single nucleotide variant (missense variant)	Warsaw breakage syndrome	GPathogenic
Select item 8370	NM_030653.4(DDX11):c.2689_2691del (p.Lys897del)	DDX11 (K897del +3 more)	Deletion (inframe_deletion)	Warsaw breakage syndrome	GPathogenic
Select item 8369	NM_030653.4(DDX11):c.2271+2T>C	DDX11	Single nucleotide variant (splice donor variant)	Warsaw breakage syndrome	GPathogenic

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Links from MedGen

Items: 41