"Revvity Omics, Revvity"[submitter] AND "DNAH11"[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 454666	NM_001277115.2(DNAH11):c.1A>G (p.Met1Val)	DNAH11 (M1V)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 7 +1 more	GLikely pathogenic
Select item 1324266	NM_001277115.2(DNAH11):c.379_383del (p.Val127fs)	DNAH11 (V127fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 7	GLikely pathogenic
Select item 834885	NM_001277115.2(DNAH11):c.1232G>A (p.Gly411Glu)	DNAH11 (G411E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7 +1 more	GConflicting classifications of pathogenicity
Select item 1804578	NM_001277115.2(DNAH11):c.1996G>A (p.Ala666Thr)	DNAH11 (A666T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 359608	NM_001277115.2(DNAH11):c.2038G>A (p.Asp680Asn)	DNAH11 (D680N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 1324267	NM_001277115.2(DNAH11):c.3256-2A>C	DNAH11, LOC126859961	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia 7	GLikely pathogenic
Select item 238908	NM_001277115.2(DNAH11):c.3288G>A (p.Met1096Ile)	DNAH11, LOC126859961 (M1096I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7 +1 more	GConflicting classifications of pathogenicity
Select item 359621	NM_001277115.2(DNAH11):c.3470T>G (p.Leu1157Arg)	DNAH11 (L1157R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 410828	NM_001277115.2(DNAH11):c.4734G>C (p.Met1578Ile)	DNAH11 (M1578I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 410860	NM_001277115.2(DNAH11):c.4775G>T (p.Cys1592Phe)	DNAH11 (C1592F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7 +1 more	GUncertain significance
Select item 2435939	NM_001277115.2(DNAH11):c.4922C>G (p.Ser1641Ter)	DNAH11 (S1641* +1 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 7	GPathogenic
Select item 2689025	NM_001277115.2(DNAH11):c.5506C>T (p.Arg1836Ter)	DNAH11 (R1836* +1 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 7 +1 more	GPathogenic
Select item 2440909	NM_001277115.2(DNAH11):c.5690C>T (p.Thr1897Ile)	DNAH11 (T1897I +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 697682	NM_001277115.2(DNAH11):c.6018G>A (p.Pro2006=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 228333	NM_001277115.2(DNAH11):c.6244C>T (p.Arg2082Ter)	DNAH11 (R2082*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 410849	NM_001277115.2(DNAH11):c.6352G>A (p.Gly2118Ser)	DNAH11 (G2118S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 850638	NM_001277115.2(DNAH11):c.6463C>T (p.Leu2155Phe)	DNAH11 (L2155F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 974843	NM_001277115.2(DNAH11):c.6565C>T (p.Arg2189Ter)	DNAH11 (R2189*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 359645	NM_001277115.2(DNAH11):c.6664C>T (p.Arg2222Ter)	DNAH11 (R2222*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 7 +1 more	GConflicting classifications of pathogenicity
Select item 911559	NM_001277115.2(DNAH11):c.8275T>C (p.Phe2759Leu)	DNAH11 (F2759L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1324269	NM_001277115.2(DNAH11):c.8511-1G>C	DNAH11	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia 7	GLikely pathogenic
Select item 359658	NM_001277115.2(DNAH11):c.8533C>G (p.Arg2845Gly)	DNAH11 (R2845G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1509265	NM_001277115.2(DNAH11):c.8558T>C (p.Leu2853Ser)	DNAH11 (L2853S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 958010	NM_001277115.2(DNAH11):c.9022A>G (p.Ile3008Val)	DNAH11 (I3008V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 281471	NM_001277115.2(DNAH11):c.9499A>C (p.Thr3167Pro)	DNAH11 (T3167P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 2440906	NM_001277115.2(DNAH11):c.9781G>A (p.Glu3261Lys)	DNAH11 (E3261K +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7	GUncertain significance
Select item 2440902	NM_001277115.2(DNAH11):c.9791C>T (p.Pro3264Leu)	DNAH11 (P3264L +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7	GUncertain significance
Select item 2440912	NM_001277115.2(DNAH11):c.10009A>G (p.Ile3337Val)	DNAH11 (I3337V +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7 +1 more	GConflicting classifications of pathogenicity
Select item 2440907	NM_001277115.2(DNAH11):c.10332+30G>A	DNAH11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 7	GUncertain significance
Select item 2440910	NM_001277115.2(DNAH11):c.10783G>A (p.Glu3595Lys)	DNAH11 (E3595K +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7 +2 more	GConflicting classifications of pathogenicity
Select item 1420005	NM_001277115.2(DNAH11):c.11266C>T (p.Arg3756Cys)	DNAH11 (R3756C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7 +2 more	GConflicting classifications of pathogenicity
Select item 2440911	NM_001277115.2(DNAH11):c.11379G>T (p.Leu3793Phe)	DNAH11 (L3793F +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7 +1 more	GConflicting classifications of pathogenicity
Select item 1976937	NM_001277115.2(DNAH11):c.11663G>A (p.Arg3888His)	DNAH11 (R3888H +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7 +1 more	GUncertain significance
Select item 2435935	NM_001277115.2(DNAH11):c.11839+1G>A	DNAH11	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia 7	GPathogenic
Select item 977558	NM_001277115.2(DNAH11):c.11999C>A (p.Thr4000Asn)	DNAH11 (T4000N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7 +1 more	GUncertain significance
Select item 1764358	NM_001277115.2(DNAH11):c.12670A>G (p.Thr4224Ala)	DNAH11 (T4231A +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7 +1 more	GConflicting classifications of pathogenicity
Select item 227319	NM_001277115.2(DNAH11):c.12899G>A (p.Arg4300His)	DNAH11 (R4300H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 163128	NM_001277115.2(DNAH11):c.12969G>C (p.Gln4323His)	DNAH11 (Q4323H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GConflicting classifications of pathogenicity
Select item 2440905	NM_001277115.2(DNAH11):c.13054A>T (p.Asn4352Tyr)	DNAH11, LOC126859962 (N4352Y +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7 +1 more	GConflicting classifications of pathogenicity

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Items: 39