"Revvity Omics, Revvity"[submitter] AND "DNAH5"[gene] - ClinVar

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Items: 40

	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 953233	NM_001369.3(DNAH5):c.12107G>A (p.Trp4036Ter)	DNAH5 (W4036*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 970492	NM_001369.3(DNAH5):c.11326G>A (p.Val3776Ile)	DNAH5, LOC107457585 (V3776I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 1324273	NM_001369.3(DNAH5):c.11163del (p.Gly3722fs)	DNAH5 (G3722fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 929445	NM_001369.3(DNAH5):c.11028+5G>A	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 3 +1 more	GUncertain significance
Select item 2440916	NM_001369.3(DNAH5):c.11005A>C (p.Ile3669Leu)	DNAH5 (I3669L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 65636	NM_001369.3(DNAH5):c.10815del (p.Pro3606fs)	DNAH5 (P3606fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 454726	NM_001369.3(DNAH5):c.10712CTA[1] (p.Thr3572del)	DNAH5 (T3572del)	Microsatellite (inframe_deletion)	Primary ciliary dyskinesia 3 +1 more	GUncertain significance
Select item 2439863	NM_001369.3(DNAH5):c.10555+1G>T	DNAH5	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 525422	NM_001369.3(DNAH5):c.10458G>A (p.Met3486Ile)	DNAH5 (M3486I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GUncertain significance
Select item 265361	NM_001369.3(DNAH5):c.10441C>T (p.Arg3481Ter)	DNAH5 (R3481*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 407230	NM_001369.3(DNAH5):c.10367C>T (p.Ala3456Val)	DNAH5 (A3456V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 351048	NM_001369.3(DNAH5):c.10036A>G (p.Thr3346Ala)	DNAH5 (T3346A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 258074	NM_001369.3(DNAH5):c.9941G>A (p.Arg3314His)	DNAH5 (R3314H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +2 more	GConflicting classifications of pathogenicity
Select item 858840	NM_001369.3(DNAH5):c.9907C>A (p.Pro3303Thr)	DNAH5 (P3303T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 258067	NM_001369.3(DNAH5):c.9244C>A (p.Leu3082Ile)	DNAH5 (L3082I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +2 more	GConflicting classifications of pathogenicity
Select item 2440914	NM_001369.3(DNAH5):c.8906C>G (p.Ala2969Gly)	DNAH5 (A2969G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 407233	NM_001369.3(DNAH5):c.8024_8025dup (p.Val2676Ter)	DNAH5 (V2676*)	Duplication (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 197517	NM_001369.3(DNAH5):c.7531C>T (p.Arg2511Trp)	DNAH5 (R2511W)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +3 more	GConflicting classifications of pathogenicity
Select item 454795	NM_001369.3(DNAH5):c.6763C>T (p.Arg2255Ter)	DNAH5 (R2255*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +2 more	GPathogenic/Likely pathogenic
Select item 648455	NM_001369.3(DNAH5):c.5665_5666del (p.Leu1889fs)	DNAH5 (L1889fs)	Microsatellite (frameshift variant)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 1324272	NM_001369.3(DNAH5):c.5563del (p.Ile1855fs)	DNAH5 (I1855fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 372356	NM_001369.3(DNAH5):c.5503C>T (p.Gln1835Ter)	DNAH5 (Q1835*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3 +2 more	GConflicting classifications of pathogenicity
Select item 238981	NM_001369.3(DNAH5):c.5413C>T (p.Arg1805Cys)	DNAH5 (R1805C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 220475	NM_001369.3(DNAH5):c.5281C>T (p.Arg1761Ter)	DNAH5 (R1761*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3 +1 more	GPathogenic
Select item 1324270	NM_001369.3(DNAH5):c.4597-1G>A	DNAH5	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 2690592	NM_001369.3(DNAH5):c.3774del (p.Ala1259fs)	DNAH5 (A1259fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
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 2440915	NM_001369.3(DNAH5):c.3202G>T (p.Ala1068Ser)	DNAH5 (A1068S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GUncertain significance
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 2440913	NM_001369.3(DNAH5):c.2780C>T (p.Ser927Leu)	DNAH5 (S927L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 2439879	NM_001369.3(DNAH5):c.2518_2519del (p.Cys841fs)	DNAH5 (C841fs)	Microsatellite (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 2440917	NM_001369.3(DNAH5):c.2432-3A>G	DNAH5	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 3	GUncertain significance
Select item 523616	NM_001369.3(DNAH5):c.2283_2284del (p.Arg761fs)	DNAH5 (R761fs)	Microsatellite (frameshift variant)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 576268	NM_001369.3(DNAH5):c.2200C>G (p.Leu734Val)	DNAH5 (L734V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 2191456	NM_001369.3(DNAH5):c.1586G>A (p.Arg529Gln)	DNAH5 (R529Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 3 +1 more	GConflicting classifications of pathogenicity
Select item 1075247	NM_001369.3(DNAH5):c.1351_1355del (p.Gln451fs)	DNAH5 (Q451fs)	Microsatellite (frameshift variant)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 2439865	NM_001369.3(DNAH5):c.1344_1348del (p.Gln451fs)	DNAH5 (Q451fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GLikely pathogenic
Select item 2435945	NM_001369.3(DNAH5):c.931_934del (p.Ala311fs)	DNAH5 (A311fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 3	GPathogenic
Select item 1459482	NM_001369.3(DNAH5):c.877dup (p.Arg293fs)	DNAH5 (R293fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic

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Items: 40