"OMIM"[submitter] AND "DNAH5"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 566788	NM_001369.3(DNAH5):c.12910-1G>C	DNAH5	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia	GPathogenic
Select item 65636	NM_001369.3(DNAH5):c.10815del (p.Pro3606fs)	DNAH5 (P3606fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia +2 more	GPathogenic
Select item 6478	NM_001369.3(DNAH5):c.10555G>C (p.Gly3519Arg)	DNAH5 (G3519R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 228251	NM_001369.3(DNAH5):c.6249G>A (p.Met2083Ile)	DNAH5 (M2083I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GPathogenic/Likely pathogenic
Select item 407241	NM_001369.3(DNAH5):c.5563dup (p.Ile1855fs)	DNAH5 (I1855fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia 3 +1 more	GPathogenic
Select item 6481	NM_001369.3(DNAH5):c.5130dup (p.Arg1711fs)	DNAH5 (R1711fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 39652	NM_001369.3(DNAH5):c.3139G>A (p.Gly1047Arg)	DNAH5 (G1047R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GPathogenic
Select item 39649	NM_001369.3(DNAH5):c.2261dup (p.Met754fs)	DNAH5 (M754fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 6480	NM_001369.3(DNAH5):c.1828C>T (p.Gln610Ter)	DNAH5 (Q610*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 39651	NM_001369.3(DNAH5):c.1121T>C (p.Ile374Thr)	DNAH5 (I374T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +2 more	GConflicting classifications of pathogenicity