"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 178740	NM_001369.3(DNAH5):c.13359A>G (p.Thr4453=)	DNAH5	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 163132	NM_001369.3(DNAH5):c.13348A>G (p.Ile4450Val)	DNAH5 (I4450V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 163133	NM_001369.3(DNAH5):c.12910-11C>T	DNAH5	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 178742	NM_001369.3(DNAH5):c.12468A>C (p.Gly4156=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 3 +3 more	GBenign
Select item 178743	NM_001369.3(DNAH5):c.12401C>T (p.Ala4134Val)	DNAH5 (A4134V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 167003	NM_001369.3(DNAH5):c.9721-12A>T	DNAH5	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 281131	NM_001369.3(DNAH5):c.8845C>G (p.Gln2949Glu)	DNAH5 (Q2949E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 178745	NM_001369.3(DNAH5):c.8586G>T (p.Leu2862Phe)	DNAH5 (L2862F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +3 more	GBenign
Select item 197516	NM_001369.3(DNAH5):c.7609+19C>T	DNAH5	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 163144	NM_001369.3(DNAH5):c.6444+11C>T	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 163145	NM_001369.3(DNAH5):c.6264C>T (p.Ala2088=)	DNAH5	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 178749	NM_001369.3(DNAH5):c.5172C>T (p.Ala1724=)	DNAH5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 163149	NM_001369.3(DNAH5):c.5115-5T>C	DNAH5	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 238977	NM_001369.3(DNAH5):c.4961G>A (p.Arg1654Gln)	DNAH5 (R1654Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +2 more	GConflicting classifications of pathogenicity
Select item 215494	NM_001369.3(DNAH5):c.3835-3del	DNAH5	Deletion (intron variant)	Primary ciliary dyskinesia 3 +3 more	GBenign/Likely benign
Select item 163154	NM_001369.3(DNAH5):c.3258T>C (p.Leu1086=)	DNAH5	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 178753	NM_001369.3(DNAH5):c.2296A>T (p.Ile766Leu)	DNAH5 (I766L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +3 more	GBenign
Select item 178755	NM_001369.3(DNAH5):c.2229T>C (p.Asp743=)	DNAH5	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 3 +3 more	GBenign
Select item 163157	NM_001369.3(DNAH5):c.1672A>G (p.Thr558Ala)	DNAH5 (T558A)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 163158	NM_001369.3(DNAH5):c.1503T>C (p.Ile501=)	DNAH5	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
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
Select item 163161	NM_001369.3(DNAH5):c.192+14C>G	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +3 more	GBenign
Select item 163159	NM_001369.3(DNAH5):c.71G>A (p.Gly24Glu)	DNAH5 (G24E)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 178760	NM_001369.3(DNAH5):c.36T>G (p.His12Gln)	DNAH5 (H12Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +3 more	GBenign

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Items: 24