C2678473[trait identifier] AND "Laboratory for Molecular Medicine, Mas - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 93682	NM_001277115.2(DNAH11):c.100_101delinsTT (p.Glu34Leu)	DNAH11 (E34L)	Indel (missense variant)	not specified +2 more	GBenign
Select item 93683	NM_001277115.2(DNAH11):c.101A>T (p.Glu34Val)	DNAH11 (E34V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 163093	NM_001277115.2(DNAH11):c.470G>A (p.Gly157Glu)	DNAH11 (G157E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GConflicting classifications of pathogenicity
Select item 93693	NM_001277115.2(DNAH11):c.705C>T (p.Asn235=)	DNAH11	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 226583	NM_001277115.2(DNAH11):c.1426-9T>C	DNAH11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +3 more	GConflicting classifications of pathogenicity
Select item 163096	NM_001277115.2(DNAH11):c.1916A>G (p.Gln639Arg)	DNAH11 (Q639R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
Select item 163097	NM_001277115.2(DNAH11):c.1956C>T (p.Phe652=)	DNAH11	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 163098	NM_001277115.2(DNAH11):c.1961C>G (p.Ser654Cys)	DNAH11 (S654C)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 93684	NM_001277115.2(DNAH11):c.2454A>G (p.Ala818=)	DNAH11	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 178725	NM_001277115.2(DNAH11):c.3068T>C (p.Val1023Ala)	DNAH11, LOC126859961 (V1023A)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 163100	NM_001277115.2(DNAH11):c.3112A>G (p.Thr1038Ala)	DNAH11, LOC126859961 (T1038A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 163102	NM_001277115.2(DNAH11):c.3630G>A (p.Gln1210=)	DNAH11	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 228332	NM_001277115.2(DNAH11):c.4333C>T (p.Arg1445Ter)	DNAH11 (R1445*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +2 more	GPathogenic
Select item 93689	NM_001277115.2(DNAH11):c.4430T>C (p.Val1477Ala)	DNAH11 (V1477A)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 220718	NM_001277115.2(DNAH11):c.4501-7A>T	DNAH11	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 163104	NM_001277115.2(DNAH11):c.4879C>T (p.Arg1627Cys)	DNAH11 (R1627C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 93691	NM_001277115.2(DNAH11):c.5490G>A (p.Leu1830=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 7 +3 more	GBenign/Likely benign
Select item 228333	NM_001277115.2(DNAH11):c.6244C>T (p.Arg2082Ter)	DNAH11 (R2082*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +3 more	GPathogenic
Select item 163107	NM_001277115.2(DNAH11):c.6274-13T>G	DNAH11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 226588	NM_001277115.2(DNAH11):c.6683+13C>G	DNAH11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +3 more	GConflicting classifications of pathogenicity
Select item 178727	NM_001277115.2(DNAH11):c.6970C>G (p.Leu2324Val)	DNAH11 (L2324V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7 +3 more	GBenign/Likely benign
Select item 93694	NM_001277115.2(DNAH11):c.7290C>T (p.Phe2430=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 7 +3 more	GBenign
Select item 208573	NM_001277115.2(DNAH11):c.7508_7509insTTG (p.Gly2503_Lys2504insTer)	DNAH11	Insertion (nonsense +1 more)	Primary ciliary dyskinesia 7	GPathogenic
Select item 163110	NM_001277115.2(DNAH11):c.7626G>A (p.Thr2542=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 163112	NM_001277115.2(DNAH11):c.7776C>T (p.His2592=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 163113	NM_001277115.2(DNAH11):c.7901A>G (p.Asn2634Ser)	DNAH11 (N2634S)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 208572	NM_001277115.2(DNAH11):c.8746C>T (p.Gln2916Ter)	DNAH11 (Q2916*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 7 +1 more	GPathogenic
Select item 163114	NM_001277115.2(DNAH11):c.8798-5G>A	DNAH11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +3 more	GConflicting classifications of pathogenicity
Select item 163116	NM_001277115.2(DNAH11):c.8990G>A (p.Arg2997Gln)	DNAH11 (R2997Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GConflicting classifications of pathogenicity
Select item 163117	NM_001277115.2(DNAH11):c.9097A>G (p.Ile3033Val)	DNAH11 (I3033V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GConflicting classifications of pathogenicity
Select item 178729	NM_001277115.2(DNAH11):c.9102+8G>A	DNAH11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 7 +3 more	GConflicting classifications of pathogenicity
Select item 178730	NM_001277115.2(DNAH11):c.9337-9T>C	DNAH11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 7 +3 more	GBenign/Likely benign
Select item 226590	NM_001277115.2(DNAH11):c.9435G>A (p.Thr3145=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +3 more	GConflicting classifications of pathogenicity
Select item 163118	NM_001277115.2(DNAH11):c.9935A>T (p.Asp3312Val)	DNAH11 (D3312V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GConflicting classifications of pathogenicity
Select item 178732	NM_001277115.2(DNAH11):c.10399G>A (p.Ala3467Thr)	DNAH11 (A3467T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7 +3 more	GBenign
Select item 163120	NM_001277115.2(DNAH11):c.10441G>A (p.Glu3481Lys)	DNAH11 (E3481K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 198347	NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His)	DNAH11 (R3491H)	Single nucleotide variant (missense variant)	not provided +11 more	GConflicting classifications of pathogenicity
Select item 178733	NM_001277115.2(DNAH11):c.10739G>A (p.Arg3580His)	DNAH11 (R3580H)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 163121	NM_001277115.2(DNAH11):c.11122G>T (p.Val3708Leu)	DNAH11 (V3708L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 226579	NM_001277115.2(DNAH11):c.11233G>A (p.Glu3745Lys)	DNAH11 (E3745K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7 +3 more	GConflicting classifications of pathogenicity
Select item 163126	NM_001277115.2(DNAH11):c.11298T>C (p.His3766=)	DNAH11	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 227317	NM_001277115.2(DNAH11):c.12175G>A (p.Ala4059Thr)	DNAH11 (A4059T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 6475	NM_001277115.2(DNAH11):c.12363C>G (p.Tyr4121Ter)	DNAH11 (Y4121*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 178735	NM_001277115.2(DNAH11):c.12493A>G (p.Met4165Val)	DNAH11 (M4165V)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 178737	NM_001277115.2(DNAH11):c.12509C>T (p.Thr4170Ile)	DNAH11 (T4170I)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 227319	NM_001277115.2(DNAH11):c.12899G>A (p.Arg4300His)	DNAH11 (R4300H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 163128	NM_001277115.2(DNAH11):c.12969G>C (p.Gln4323His)	DNAH11 (Q4323H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GConflicting classifications of pathogenicity
Select item 178739	NM_001277115.2(DNAH11):c.13128C>A (p.Leu4376=)	DNAH11	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 163129	NM_001277115.2(DNAH11):c.13263G>C (p.Pro4421=)	DNAH11	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 226581	NM_001277115.2(DNAH11):c.13495G>A (p.Glu4499Lys)	CDCA7L, DNAH11 (E4499K)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 7 +3 more	GBenign/Likely benign
Select item 226582	NM_001277115.2(DNAH11):c.13547C>T (p.Ala4516Val)	CDCA7L, DNAH11 (A4516V)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign

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Items: 51