C1837618[trait identifier] AND "Johns Hopkins Genomics, Johns Hopkins - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 350995	NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter)	DNAH5 (N4487*)	Duplication (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1185037	NM_001369.3(DNAH5):c.12708_12709inv (p.Val4237Ile)	DNAH5 (V4237I)	Inversion (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 552084	NM_001369.3(DNAH5):c.11140A>G (p.Ile3714Val)	DNAH5 (I3714V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +3 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 654358	NM_001369.3(DNAH5):c.10789G>T (p.Ala3597Ser)	DNAH5 (A3597S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 2690902	NM_001369.3(DNAH5):c.10196T>C (p.Val3399Ala)	DNAH5 (V3399A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 698819	NM_001369.3(DNAH5):c.9751G>T (p.Ala3251Ser)	DNAH5 (A3251S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 596467	NM_001369.3(DNAH5):c.9203A>G (p.Glu3068Gly)	DNAH5 (E3068G)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 643375	NM_001369.3(DNAH5):c.9124C>T (p.Arg3042Ter)	DNAH5 (R3042*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3 +1 more	GPathogenic
Select item 414348	NM_001369.3(DNAH5):c.8137C>T (p.Arg2713Cys)	DNAH5 (R2713C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +2 more	GConflicting classifications of pathogenicity
Select item 179699	NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro)	DNAH5 (R2501P)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1331710	NM_001369.3(DNAH5):c.7132G>A (p.Glu2378Lys)	DNAH5 (E2378K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 977589	NM_001369.3(DNAH5):c.6657C>A (p.Tyr2219Ter)	DNAH5 (Y2219*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3 +1 more	GLikely 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 1331709	NM_001369.3(DNAH5):c.4924G>A (p.Gly1642Arg)	DNAH5, LOC126807318 (G1642R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1331717	NM_001369.3(DNAH5):c.4442C>T (p.Pro1481Leu)	DNAH5 (P1481L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 351193	NM_001369.3(DNAH5):c.3179A>T (p.Lys1060Met)	DNAH5 (K1060M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +2 more	GConflicting classifications of pathogenicity
Select item 1185018	NM_001369.3(DNAH5):c.2052+1G>T	DNAH5	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia +1 more	GLikely pathogenic
Select item 582954	NM_001369.3(DNAH5):c.1958C>T (p.Thr653Met)	DNAH5 (T653M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 903684	NM_001369.3(DNAH5):c.1882T>G (p.Leu628Val)	DNAH5 (L628V)	Single nucleotide variant (missense variant)	DNAH5-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1185039	NM_001369.3(DNAH5):c.1114A>G (p.Thr372Ala)	DNAH5 (T372A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity

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Items: 21