ClinVar for Gene (Select 8701) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234932	NM_001277115.2(DNAH11):c.2956C>T (p.Gln986Ter)	DNAH11, LOC126859961 (Q986*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 7	GLikely pathogenic
Select item 3221497	NM_001277115.2(DNAH11):c.977A>T (p.Glu326Val)	DNAH11 (E326V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3221496	NM_001277115.2(DNAH11):c.9383A>G (p.Gln3128Arg)	DNAH11 (Q3128R +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3221495	NM_001277115.2(DNAH11):c.827C>A (p.Ala276Glu)	DNAH11 (A276E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3221494	NM_001277115.2(DNAH11):c.7946C>T (p.Pro2649Leu)	DNAH11 (P2649L +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3221493	NM_001277115.2(DNAH11):c.7422T>A (p.Asp2474Glu)	DNAH11 (D2474E +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3221492	NM_001277115.2(DNAH11):c.7255C>G (p.Leu2419Val)	DNAH11 (L2419V +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3221491	NM_001277115.2(DNAH11):c.7105A>G (p.Thr2369Ala)	DNAH11 (T2369A +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3221490	NM_001277115.2(DNAH11):c.637C>T (p.Pro213Ser)	DNAH11 (P213S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3221488	NM_001277115.2(DNAH11):c.4964A>T (p.Lys1655Ile)	DNAH11 (K1655I +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3221486	NM_001277115.2(DNAH11):c.4385C>T (p.Thr1462Ile)	DNAH11 (T1462I +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3221485	NM_001277115.2(DNAH11):c.2222A>G (p.Asp741Gly)	DNAH11 (D741G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3221484	NM_001277115.2(DNAH11):c.13373C>G (p.Pro4458Arg)	CDCA7L, DNAH11 (P4458R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3221483	NM_001277115.2(DNAH11):c.12566C>T (p.Ala4189Val)	DNAH11 (A4189V +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3221482	NM_001277115.2(DNAH11):c.12188T>G (p.Phe4063Cys)	DNAH11 (F4063C +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3221481	NM_001277115.2(DNAH11):c.11712G>A (p.Leu3904=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3221480	NM_001277115.2(DNAH11):c.11683G>C (p.Ala3895Pro)	DNAH11 (A3895P +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3221479	NM_001277115.2(DNAH11):c.11237A>C (p.Gln3746Pro)	DNAH11 (Q3746P +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3221478	NM_001277115.2(DNAH11):c.10110C>T (p.Asn3370=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3083528	NM_001277115.2(DNAH11):c.9484G>A (p.Val3162Met)	DNAH11 (V3162M +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083527	NM_001277115.2(DNAH11):c.9478C>G (p.Arg3160Gly)	DNAH11 (R3160G +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083525	NM_001277115.2(DNAH11):c.8722A>G (p.Thr2908Ala)	DNAH11 (T2908A +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083524	NM_001277115.2(DNAH11):c.8667A>T (p.Glu2889Asp)	DNAH11 (E2889D +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083523	NM_001277115.2(DNAH11):c.8639C>G (p.Thr2880Ser)	DNAH11 (T2880S +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3083522	NM_001277115.2(DNAH11):c.8326A>T (p.Ser2776Cys)	DNAH11 (S2783C +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083520	NM_001277115.2(DNAH11):c.7873A>T (p.Asn2625Tyr)	DNAH11 (N2632Y +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083519	NM_001277115.2(DNAH11):c.7454A>G (p.His2485Arg)	DNAH11 (H2485R +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083518	NM_001277115.2(DNAH11):c.7286A>G (p.Asp2429Gly)	DNAH11 (D2429G +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083517	NM_001277115.2(DNAH11):c.7075G>C (p.Asp2359His)	DNAH11 (D2359H +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083515	NM_001277115.2(DNAH11):c.6518T>C (p.Val2173Ala)	DNAH11 (V2173A +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083514	NM_001277115.2(DNAH11):c.4804G>A (p.Asp1602Asn)	DNAH11 (D1602N +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083513	NM_001277115.2(DNAH11):c.4121T>G (p.Val1374Gly)	DNAH11 (V1374G +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083512	NM_001277115.2(DNAH11):c.3524A>G (p.His1175Arg)	DNAH11 (H1175R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083510	NM_001277115.2(DNAH11):c.2782G>A (p.Asp928Asn)	DNAH11 (D928N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083509	NM_001277115.2(DNAH11):c.2528G>A (p.Gly843Asp)	DNAH11 (G843D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083508	NM_001277115.2(DNAH11):c.2293C>T (p.Leu765Phe)	DNAH11 (L765F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083507	NM_001277115.2(DNAH11):c.2292C>G (p.Asp764Glu)	DNAH11 (D764E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3083505	NM_001277115.2(DNAH11):c.1839C>G (p.His613Gln)	DNAH11 (H613Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083504	NM_001277115.2(DNAH11):c.13439T>C (p.Val4480Ala)	CDCA7L, DNAH11 (V4480A +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083503	NM_001277115.2(DNAH11):c.12421G>A (p.Glu4141Lys)	DNAH11 (E4148K +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083502	NM_001277115.2(DNAH11):c.12329C>T (p.Pro4110Leu)	DNAH11 (P4110L +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083500	NM_001277115.2(DNAH11):c.12164A>G (p.Asn4055Ser)	DNAH11 (N4055S +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083499	NM_001277115.2(DNAH11):c.11912T>A (p.Val3971Glu)	DNAH11 (V3971E +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083498	NM_001277115.2(DNAH11):c.11670C>A (p.Asp3890Glu)	DNAH11 (D3897E +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083497	NM_001277115.2(DNAH11):c.11654G>T (p.Arg3885Ile)	DNAH11 (R3892I +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083496	NM_001277115.2(DNAH11):c.11210A>G (p.Asn3737Ser)	DNAH11 (N3737S +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083494	NM_001277115.2(DNAH11):c.10849C>A (p.Leu3617Met)	DNAH11 (L3617M +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3083493	NM_001277115.2(DNAH11):c.1075A>G (p.Ile359Val)	DNAH11 (I359V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3068544	NM_001277115.2(DNAH11):c.5145dup (p.His1716fs)	DNAH11 (H1716fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 3068449	NM_001277115.2(DNAH11):c.6547-963G>A	DNAH11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 7	GPathogenic
Select item 3068207	NM_001277115.2(DNAH11):c.6130C>G (p.Arg2044Gly)	DNAH11 (R2044G +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7	GUncertain significance
Select item 3067899	NM_001277115.2(DNAH11):c.9554del (p.Pro3185fs)	DNAH11 (P3185fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 7	GLikely pathogenic
Select item 3065774	NM_001277115.2(DNAH11):c.136_157dup (p.Phe53fs)	DNAH11 (F53fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia 7	GLikely pathogenic
Select item 3065596	NM_001277115.2(DNAH11):c.11986A>T (p.Lys3996Ter)	DNAH11 (K3996* +1 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 7	GLikely pathogenic
Select item 3062983	GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1	ABCB5, CBX3 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062961	GRCh37/hg19 7p21.3-15.2(chr7:13107394-27514163)x1	ABCB5, AGMO +71 more	Copy number loss	not specified	GPathogenic
Select item 3062245	NM_001277115.2(DNAH11):c.11615G>A (p.Trp3872Ter)	DNAH11 (W3872* +1 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 7	GLikely pathogenic
Select item 3062132	NM_001277115.2(DNAH11):c.10773C>G (p.His3591Gln)	DNAH11 (H3591Q +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7	GUncertain significance
Select item 3061698	NM_001277115.2(DNAH11):c.9102+2960C>T	DNAH11	Single nucleotide variant (intron variant)	DNAH11-related disorder	GUncertain significance
Select item 3045552	NM_001277115.2(DNAH11):c.13284C>A (p.Leu4428=)	DNAH11	Single nucleotide variant (synonymous variant)	DNAH11-related disorder	GLikely benign
Select item 3043306	NM_001277115.2(DNAH11):c.10955dup (p.Asp3652fs)	DNAH11 (D3652fs)	Duplication (frameshift variant)	DNAH11-related disorder	GPathogenic
Select item 3040785	NM_001277115.2(DNAH11):c.549T>C (p.Phe183=)	DNAH11	Single nucleotide variant (synonymous variant)	DNAH11-related disorder	GLikely benign
Select item 3039109	NM_001277115.2(DNAH11):c.12424A>T (p.Ile4142Phe)	DNAH11 (I4142F +1 more)	Single nucleotide variant (missense variant)	DNAH11-related disorder	GUncertain significance
Select item 3033971	NM_001277115.2(DNAH11):c.4945-3758A>G	DNAH11	Single nucleotide variant (intron variant)	DNAH11-related disorder	GUncertain significance
Select item 3031642	NM_001277115.2(DNAH11):c.8510+466C>T	DNAH11	Single nucleotide variant (intron variant)	DNAH11-related disorder	GUncertain significance
Select item 3029725	NM_001277115.2(DNAH11):c.222G>A (p.Glu74=)	DNAH11	Single nucleotide variant (synonymous variant)	DNAH11-related disorder	GLikely benign
Select item 3026645	NM_001277115.2(DNAH11):c.4095+1G>A	DNAH11 (A1366T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3024080	NM_001277115.2(DNAH11):c.12887T>A (p.Ile4296Asn)	DNAH11 (I4303N +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7	GUncertain significance
Select item 3024079	NM_001277115.2(DNAH11):c.12179T>G (p.Leu4060Arg)	DNAH11 (L4067R +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7	GUncertain significance
Select item 3024065	NM_001277115.2(DNAH11):c.4500+18A>G	DNAH11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3024064	NM_001277115.2(DNAH11):c.11241T>C (p.Ala3747=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3024056	NM_001277115.2(DNAH11):c.352-20T>C	DNAH11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3023865	NM_001277115.2(DNAH11):c.950C>G (p.Thr317Ser)	DNAH11 (T317S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3023858	NM_001277115.2(DNAH11):c.6834+11C>T	DNAH11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3023850	NM_001277115.2(DNAH11):c.11399A>G (p.Asp3800Gly)	DNAH11 (D3800G +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3023802	NM_001277115.2(DNAH11):c.10026+12C>T	DNAH11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3023773	NM_001277115.2(DNAH11):c.7755A>G (p.Leu2585=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GBenign
Select item 3023772	NM_001277115.2(DNAH11):c.7915-16T>G	DNAH11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3023621	NM_001277115.2(DNAH11):c.13362A>T (p.Ala4454=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 3023546	NM_001277115.2(DNAH11):c.9767T>C (p.Ile3256Thr)	DNAH11 (I3256T +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 3023077	NM_001277115.2(DNAH11):c.12159G>A (p.Leu4053=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3023054	NM_001277115.2(DNAH11):c.8814G>C (p.Leu2938=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3023018	NM_001277115.2(DNAH11):c.2139T>C (p.Asn713=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3022884	NM_001277115.2(DNAH11):c.220G>A (p.Glu74Lys)	DNAH11 (E74K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 3022799	NM_001277115.2(DNAH11):c.5325A>G (p.Lys1775=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GBenign
Select item 3022748	NM_001277115.2(DNAH11):c.12027C>T (p.Ser4009=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3022740	NM_001277115.2(DNAH11):c.5651A>G (p.His1884Arg)	DNAH11 (H1884R +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 3022739	NM_001277115.2(DNAH11):c.8886C>T (p.Asp2962=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3022722	NM_001277115.2(DNAH11):c.11203-6T>C	DNAH11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3022691	NM_001277115.2(DNAH11):c.10374G>A (p.Met3458Ile)	DNAH11 (M3465I +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3022462	NM_001277115.2(DNAH11):c.6468+6dup	DNAH11	Duplication (intron variant)	Primary ciliary dyskinesia	GBenign
Select item 3022461	NM_001277115.2(DNAH11):c.12852T>G (p.Val4284=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GBenign
Select item 3022406	NM_001277115.2(DNAH11):c.3996C>T (p.Val1332=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3022331	NM_001277115.2(DNAH11):c.3655C>T (p.Pro1219Ser)	DNAH11 (P1219S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3022312	NM_001277115.2(DNAH11):c.9755dup (p.Leu3252fs)	DNAH11 (L3252fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 3022105	NM_001277115.2(DNAH11):c.5601G>C (p.Val1867=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3022060	NM_001277115.2(DNAH11):c.10067A>G (p.Glu3356Gly)	DNAH11 (E3363G +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3021758	NM_001277115.2(DNAH11):c.10574T>C (p.Leu3525Ser)	DNAH11 (L3532S +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3021561	NM_001277115.2(DNAH11):c.8889C>T (p.Ser2963=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3021509	NM_001277115.2(DNAH11):c.7688A>G (p.Tyr2563Cys)	DNAH11 (Y2563C +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign

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