C1837618[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 163131	NM_001369.3(DNAH5):c.13569C>A (p.Asp4523Glu)	DNAH5 (D4523E)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1027908	NM_001369.3(DNAH5):c.12907C>T (p.Gln4303Ter)	DNAH5 (Q4303*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3	GPathogenic
Select item 407240	NM_001369.3(DNAH5):c.12044A>C (p.Tyr4015Ser)	DNAH5 (Y4015S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 238957	NM_001369.3(DNAH5):c.11231C>A (p.Thr3744Asn)	DNAH5, LOC107457585 (T3744N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 238953	NM_001369.3(DNAH5):c.10384C>T (p.Gln3462Ter)	DNAH5 (Q3462*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 1033417	NM_001369.3(DNAH5):c.8668G>C (p.Asp2890His)	DNAH5 (D2890H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 351060	NM_001369.3(DNAH5):c.7684A>T (p.Ile2562Phe)	DNAH5 (I2562F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1029326	NM_001369.3(DNAH5):c.7511T>G (p.Leu2504Arg)	DNAH5 (L2504R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 1029325	NM_001369.3(DNAH5):c.7088A>G (p.Asn2363Ser)	DNAH5 (N2363S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 498559	NM_001369.3(DNAH5):c.6752C>T (p.Thr2251Met)	DNAH5 (T2251M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 372356	NM_001369.3(DNAH5):c.5503C>T (p.Gln1835Ter)	DNAH5 (Q1835*)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1027910	NM_001369.3(DNAH5):c.4054-12C>G	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 1027909	NM_001369.3(DNAH5):c.2581C>T (p.Leu861Phe)	DNAH5 (L861F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 561151	NM_001369.3(DNAH5):c.382G>A (p.Val128Met)	DNAH5 (V128M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +2 more	GConflicting classifications of pathogenicity