DNAH11[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	ABCB5, ACTB +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	ABCB5, ACTB +823 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	ABCB5, ACTB +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	KMT2C, KMT2E +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC126859939, LOC126859940 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	LOC129389762, LOC129389763 +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	LOC110120786, LOC110120961 +769 more	Copy number gain	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	LOC129998109, LOC129998110 +560 more	Copy number gain	See cases	GPathogenic
Select item 154641	GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1	ABCB5, AGMO +331 more	Copy number loss	See cases	GPathogenic
Select item 148859	GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1	ITGB8, ITGB8-AS1 +248 more	Copy number loss	See cases	GPathogenic
Select item 59679	GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3	LOC129998117, LOC129998118 +287 more	Copy number gain	See cases	GPathogenic
Select item 147684	GRCh38/hg38 7p21.1-15.3(chr7:19145712-22193713)x1	ABCB5, CDCA7L +76 more	Copy number loss	See cases	GPathogenic
Select item 144929	GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1	ABCB5, CBX3 +281 more	Copy number loss	See cases	GPathogenic
Select item 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	LOC129998154, LOC129998155 +387 more	Copy number loss	See cases	GPathogenic
Select item 1260798	NC_000007.14:g.21542898C>T	DNAH11	Single nucleotide variant	not provided	GBenign
Select item 2855244	NM_001277115.2(DNAH11):c.-159_346delinsGGCGCCCCG (p.Met1fs)	DNAH11 (M1fs)	Indel (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 1264662	NM_001277115.2(DNAH11):c.-136T>G	DNAH11	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1183790	NM_001277115.2(DNAH11):c.-119C>T	DNAH11	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 359593	NM_001277115.2(DNAH11):c.-27C>A	DNAH11	Single nucleotide variant (5 prime UTR variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 257842	NM_001277115.2(DNAH11):c.-14C>T	DNAH11	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2817469	NM_001277115.2(DNAH11):c.1A>C (p.Met1Leu)	DNAH11 (M1L)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 1792177	NM_001277115.2(DNAH11):c.11_22dup (p.Ala7_Arg8insGlnValAlaAla)	DNAH11	Duplication (inframe_insertion +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 454666	NM_001277115.2(DNAH11):c.1A>G (p.Met1Val)	DNAH11 (M1V)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GLikely pathogenic
Select item 444714	NM_001277115.2(DNAH11):c.2T>G (p.Met1Arg)	DNAH11 (M1R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 2887564	NM_001277115.2(DNAH11):c.8C>A (p.Ala3Asp)	DNAH11 (A3D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2831053	NM_001277115.2(DNAH11):c.10del (p.Gln4fs)	DNAH11 (Q4fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 2189667	NM_001277115.2(DNAH11):c.8C>T (p.Ala3Val)	DNAH11 (A3V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2915576	NM_001277115.2(DNAH11):c.9C>G (p.Ala3=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 410836	NM_001277115.2(DNAH11):c.19G>A (p.Ala7Thr)	DNAH11 (A7T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 2114113	NM_001277115.2(DNAH11):c.21C>T (p.Ala7=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GBenign
Select item 2975578	NM_001277115.2(DNAH11):c.23G>T (p.Arg8Leu)	DNAH11 (R8L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 2758558	NM_001277115.2(DNAH11):c.24G>C (p.Arg8=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3503086	NM_001277115.2(DNAH11):c.25G>A (p.Glu9Lys)	DNAH11 (E9K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2903087	NM_001277115.2(DNAH11):c.25G>T (p.Glu9Ter)	DNAH11 (E9*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 3355200	NM_001277115.2(DNAH11):c.31C>T (p.Arg11Ter)	DNAH11 (R11*)	Single nucleotide variant (nonsense)	DNAH11-related disorder	GLikely pathogenic
Select item 2695904	NM_001277115.2(DNAH11):c.31C>G (p.Arg11Gly)	DNAH11 (R11G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2729379	NM_001277115.2(DNAH11):c.32G>C (p.Arg11Pro)	DNAH11 (R11P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 1016210	NM_001277115.2(DNAH11):c.32G>A (p.Arg11Gln)	DNAH11 (R11Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 3685668	NM_001277115.2(DNAH11):c.34G>C (p.Asp12His)	DNAH11 (D12H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3626979	NM_001277115.2(DNAH11):c.36C>T (p.Asp12=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GBenign
Select item 2894586	NM_001277115.2(DNAH11):c.36C>G (p.Asp12Glu)	DNAH11 (D12E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 2732475	NM_001277115.2(DNAH11):c.39C>T (p.Phe13=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2160855	NM_001277115.2(DNAH11):c.44A>T (p.Glu15Val)	DNAH11 (E15V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2137489	NM_001277115.2(DNAH11):c.47C>T (p.Ala16Val)	DNAH11 (A16V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign/Likely benign
Select item 3010747	NM_001277115.2(DNAH11):c.50C>T (p.Pro17Leu)	DNAH11 (P17L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 1537146	NM_001277115.2(DNAH11):c.51G>A (p.Pro17=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2722473	NM_001277115.2(DNAH11):c.53C>T (p.Thr18Ile)	DNAH11 (T18I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 178721	NM_001277115.2(DNAH11):c.54C>T (p.Thr18=)	DNAH11	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1748556	NM_001277115.2(DNAH11):c.55C>T (p.Leu19Phe)	DNAH11 (L19F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1896237	NM_001277115.2(DNAH11):c.58C>T (p.Arg20Cys)	DNAH11 (R20C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7 +1 more	GConflicting classifications of pathogenicity
Select item 218583	NM_001277115.2(DNAH11):c.58C>A (p.Arg20Ser)	DNAH11 (R20S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3702867	NM_001277115.2(DNAH11):c.61C>T (p.Leu21=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2727933	NM_001277115.2(DNAH11):c.63A>C (p.Leu21=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 580981	NM_001277115.2(DNAH11):c.65C>T (p.Thr22Ile)	DNAH11 (T22I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 505254	NM_001277115.2(DNAH11):c.68C>T (p.Ser23Leu)	DNAH11 (S23L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2957811	NM_001277115.2(DNAH11):c.73G>C (p.Ala25Pro)	DNAH11 (A25P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2917020	NM_001277115.2(DNAH11):c.73G>A (p.Ala25Thr)	DNAH11 (A25T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 2041712	NM_001277115.2(DNAH11):c.78C>G (p.Gly26=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2150816	NM_001277115.2(DNAH11):c.79C>G (p.Leu27Val)	DNAH11 (L27V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 3620744	NM_001277115.2(DNAH11):c.80T>G (p.Leu27Arg)	DNAH11 (L27R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 2883427	NM_001277115.2(DNAH11):c.84G>A (p.Glu28=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2875880	NM_001277115.2(DNAH11):c.87A>G (p.Ala29=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GBenign
Select item 2085005	NM_001277115.2(DNAH11):c.88G>A (p.Val30Met)	DNAH11 (V30M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 743816	NM_001277115.2(DNAH11):c.93C>T (p.Gly31=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2997821	NM_001277115.2(DNAH11):c.97G>T (p.Val33Leu)	DNAH11 (V33L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 835833	NM_001277115.2(DNAH11):c.97G>A (p.Val33Met)	DNAH11 (V33M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2909289	NM_001277115.2(DNAH11):c.99_100del (p.Glu34fs)	DNAH11 (E34fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 2766013	NM_001277115.2(DNAH11):c.99G>A (p.Val33=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 93682	NM_001277115.2(DNAH11):c.100_101delinsTT (p.Glu34Leu)	DNAH11 (E34L)	Indel (missense variant)	Primary ciliary dyskinesia 7 +2 more	GBenign
Select item 93681	NM_001277115.2(DNAH11):c.100G>T (p.Glu34Ter)	DNAH11 (E34*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 7 +3 more	GBenign
Select item 93683	NM_001277115.2(DNAH11):c.101A>T (p.Glu34Val)	DNAH11 (E34V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7 +3 more	GBenign
Select item 2907704	NM_001277115.2(DNAH11):c.102G>A (p.Glu34=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GBenign
Select item 1943235	NM_001277115.2(DNAH11):c.116_133dup (p.Glu44_Ala45insGluGluAsnGluGluGlu)	DNAH11	Duplication (inframe_insertion +1 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1008083	NM_001277115.2(DNAH11):c.104T>G (p.Leu35Arg)	DNAH11 (L35R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 3007018	NM_001277115.2(DNAH11):c.105C>T (p.Leu35=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2892614	NM_001277115.2(DNAH11):c.105C>A (p.Leu35=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2040497	NM_001277115.2(DNAH11):c.106GAG[6] (p.Glu40_Asn41insGlu)	DNAH11	Microsatellite (inframe_insertion +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 581899	NM_001277115.2(DNAH11):c.106G>C (p.Glu36Gln)	DNAH11 (E36Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 454643	NM_001277115.2(DNAH11):c.106GAG[4] (p.Glu40del)	DNAH11 (E40del)	Microsatellite (inframe_deletion)	Primary ciliary dyskinesia	GBenign
Select item 1470729	NM_001277115.2(DNAH11):c.107A>G (p.Glu36Gly)	DNAH11 (E36G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 3665475	NM_001277115.2(DNAH11):c.121_132dup (p.Glu44_Ala45insAsnGluGluGlu)	DNAH11	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 640326	NM_001277115.2(DNAH11):c.121_129dup (p.Asn41_Glu43dup)	DNAH11	Duplication (inframe_insertion)	Primary ciliary dyskinesia	GUncertain significance
Select item 3776904	NM_001277115.2(DNAH11):c.122_147del (p.Asn41fs)	DNAH11 (N41fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 7	GLikely pathogenic
Select item 850095	NM_001277115.2(DNAH11):c.125AGG[2] (p.Glu44del)	DNAH11 (E44del)	Microsatellite (inframe_deletion)	Primary ciliary dyskinesia	GUncertain significance
Select item 238895	NM_001277115.2(DNAH11):c.126G>A (p.Glu42=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 3687647	NM_001277115.2(DNAH11):c.127G>T (p.Glu43Ter)	DNAH11 (E43*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 1962914	NM_001277115.2(DNAH11):c.127G>A (p.Glu43Lys)	DNAH11 (E43K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1052580	NM_001277115.2(DNAH11):c.127G>C (p.Glu43Gln)	DNAH11 (E43Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2160535	NM_001277115.2(DNAH11):c.129G>A (p.Glu43=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GBenign
Select item 2853570	NM_001277115.2(DNAH11):c.130G>T (p.Glu44Ter)	DNAH11 (E44*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 2084327	NM_001277115.2(DNAH11):c.131A>C (p.Glu44Ala)	DNAH11 (E44A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 935603	NM_001277115.2(DNAH11):c.133G>A (p.Ala45Thr)	DNAH11 (A45T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
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 3346297	NM_001277115.2(DNAH11):c.136_137delinsTT (p.Ala46Leu)	DNAH11 (A46L)	Indel (missense variant)	DNAH11-related disorder	GUncertain significance
Select item 1447662	NM_001277115.2(DNAH11):c.136G>C (p.Ala46Pro)	DNAH11 (A46P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2088622	NM_001277115.2(DNAH11):c.137C>T (p.Ala46Val)	DNAH11 (A46V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 2739460	NM_001277115.2(DNAH11):c.138G>A (p.Ala46=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GBenign
Select item 3668735	NM_001277115.2(DNAH11):c.141C>T (p.Ala47=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2963018	NM_001277115.2(DNAH11):c.148G>A (p.Ala50Thr)	DNAH11 (A50T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign
Select item 2568403	NM_001277115.2(DNAH11):c.152G>C (p.Arg51Pro)	DNAH11 (R51P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity

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