C1837618[trait identifier] AND "Genetics and Molecular Pathology, SA P - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 238960	NM_001369.3(DNAH5):c.12523G>A (p.Val4175Met)	DNAH5 (V4175M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +2 more	GConflicting classifications of pathogenicity
Select item 1803176	NM_001369.3(DNAH5):c.11456-7C>T	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 65636	NM_001369.3(DNAH5):c.10815del (p.Pro3606fs)	DNAH5 (P3606fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia +2 more	GPathogenic
Select item 188365	NM_001369.3(DNAH5):c.8757G>C (p.Glu2919Asp)	DNAH5 (E2919D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GConflicting classifications of pathogenicity
Select item 1759906	NM_001369.3(DNAH5):c.7631C>T (p.Thr2544Met)	DNAH5 (T2544M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 1803168	NM_001369.3(DNAH5):c.6049C>G (p.Arg2017Gly)	DNAH5 (R2017G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 488401	NM_001369.3(DNAH5):c.6000C>A (p.Tyr2000Ter)	DNAH5 (Y2000*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3 +1 more	GPathogenic/Likely pathogenic
Select item 1698887	NM_001369.3(DNAH5):c.4199C>T (p.Pro1400Leu)	DNAH5 (P1400L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 163152	NM_001369.3(DNAH5):c.3514C>A (p.Gln1172Lys)	DNAH5 (Q1172K)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 351192	NM_001369.3(DNAH5):c.3315C>A (p.Asn1105Lys)	DNAH5 (N1105K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GUncertain significance
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