"Genome-Nilou Lab"[submitter] AND "DNAH11"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 93681	NM_001277115.2(DNAH11):c.100G>T (p.Glu34Ter)	DNAH11 (E34*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +3 more	GBenign
Select item 93683	NM_001277115.2(DNAH11):c.101A>T (p.Glu34Val)	DNAH11 (E34V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7 +3 more	GBenign
Select item 93693	NM_001277115.2(DNAH11):c.705C>T (p.Asn235=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 163096	NM_001277115.2(DNAH11):c.1916A>G (p.Gln639Arg)	DNAH11 (Q639R)	Single nucleotide variant (missense variant)	not specified +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)	Primary ciliary dyskinesia +3 more	GBenign
Select item 178725	NM_001277115.2(DNAH11):c.3068T>C (p.Val1023Ala)	DNAH11, LOC126859961 (V1023A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +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)	not specified +3 more	GBenign
Select item 163102	NM_001277115.2(DNAH11):c.3630G>A (p.Gln1210=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 1255514	NM_001277115.2(DNAH11):c.4945-34A>G	DNAH11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 7 +1 more	GBenign
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 257920	NM_001277115.2(DNAH11):c.6469-17A>G	DNAH11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 7 +3 more	GBenign
Select item 93694	NM_001277115.2(DNAH11):c.7290C>T (p.Phe2430=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 163110	NM_001277115.2(DNAH11):c.7626G>A (p.Thr2542=)	DNAH11	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 163112	NM_001277115.2(DNAH11):c.7776C>T (p.His2592=)	DNAH11	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 163113	NM_001277115.2(DNAH11):c.7901A>G (p.Asn2634Ser)	DNAH11 (N2634S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 1252515	NM_001277115.2(DNAH11):c.8797+23T>C	DNAH11	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 257939	NM_001277115.2(DNAH11):c.9102+20G>A	DNAH11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 178732	NM_001277115.2(DNAH11):c.10399G>A (p.Ala3467Thr)	DNAH11 (A3467T)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 163121	NM_001277115.2(DNAH11):c.11122G>T (p.Val3708Leu)	DNAH11 (V3708L)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
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 198650	NM_001277115.2(DNAH11):c.11691-20dup	DNAH11	Duplication (intron variant)	Primary ciliary dyskinesia 7 +1 more	GConflicting classifications of pathogenicity
Select item 1255515	NM_001277115.2(DNAH11):c.11691-19A>G	DNAH11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 7 +2 more	GBenign
Select item 178735	NM_001277115.2(DNAH11):c.12493A>G (p.Met4165Val)	DNAH11 (M4165V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7 +3 more	GBenign
Select item 178737	NM_001277115.2(DNAH11):c.12509C>T (p.Thr4170Ile)	DNAH11 (T4170I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
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 1249889	NM_001277115.2(DNAH11):c.13162+23C>A	DNAH11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 7 +1 more	GBenign

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Items: 28