CDCA7L[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	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 154641	GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1	LOC129998072, LOC129998073 +331 more	Copy number loss	See cases	GPathogenic
Select item 148859	GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1	ABCB5, AGMO +248 more	Copy number loss	See cases	GPathogenic
Select item 59679	GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3	ABCB5, AGR2 +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	LOC111365192, LOC111413014 +281 more	Copy number loss	See cases	GPathogenic
Select item 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	ABCB5, ADCYAP1R1 +387 more	Copy number loss	See cases	GPathogenic
Select item 1251756	NM_001277115.2(DNAH11):c.13304-63_13304-60del	CDCA7L, DNAH11	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2767924	NM_001277115.2(DNAH11):c.13304-20C>T	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1984351	NM_001277115.2(DNAH11):c.13304-20C>A	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2955220	NM_001277115.2(DNAH11):c.13304-18_13304-17del	CDCA7L, DNAH11	Deletion (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2746067	NM_001277115.2(DNAH11):c.13304-19C>G	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2739591	NM_001277115.2(DNAH11):c.13304-19C>A	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1574572	NM_001277115.2(DNAH11):c.13304-19C>T	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia +2 more	GLikely benign
Select item 1584775	NM_018719.5(CDCA7L):c.*1333C>T	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 2917274	NM_001277115.2(DNAH11):c.13304-13_13304-12del	CDCA7L, DNAH11	Microsatellite (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2896572	NM_001277115.2(DNAH11):c.13304-15G>A	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2969697	NM_001277115.2(DNAH11):c.13304-8dup	CDCA7L, DNAH11	Duplication (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GBenign
Select item 2696899	NM_001277115.2(DNAH11):c.13304-13G>C	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2703683	NM_001277115.2(DNAH11):c.13304-7G>T	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2726490	NM_001277115.2(DNAH11):c.13304-6C>T	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2888264	NM_001277115.2(DNAH11):c.13304-5C>T	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 257872	NM_001277115.2(DNAH11):c.13305C>T (p.Gly4435=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 853422	NM_001277115.2(DNAH11):c.13306G>A (p.Ala4436Thr)	CDCA7L, DNAH11 (A4436T)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2890852	NM_001277115.2(DNAH11):c.13308C>A (p.Ala4436=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 359697	NM_001277115.2(DNAH11):c.13309C>T (p.Arg4437Cys)	CDCA7L, DNAH11 (R4437C)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 977532	NM_001277115.2(DNAH11):c.13310G>A (p.Arg4437His)	CDCA7L, DNAH11 (R4437H)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 2890820	NM_001277115.2(DNAH11):c.13313G>A (p.Trp4438Ter)	CDCA7L, DNAH11 (W4438*)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2719000	NM_001277115.2(DNAH11):c.13316A>G (p.Asp4439Gly)	CDCA7L, DNAH11 (D4439G)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1944204	NM_001277115.2(DNAH11):c.13320_13350dup (p.Lys4451delinsProSerArgAsnHisCysTer)	CDCA7L, DNAH11	Duplication (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 936022	NM_001277115.2(DNAH11):c.13320_13416dup (p.Lys4473delinsProSerArgAsnHisCysTer)	CDCA7L, DNAH11	Duplication (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2041084	NM_001277115.2(DNAH11):c.13319C>T (p.Thr4440Ile)	CDCA7L, DNAH11 (T4440I)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2992675	NM_001277115.2(DNAH11):c.13320C>T (p.Thr4440=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2880956	NM_001277115.2(DNAH11):c.13322_13335dup (p.Val4446fs)	CDCA7L, DNAH11 (V4446fs)	Duplication (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2662022	NM_001277115.2(DNAH11):c.13321C>G (p.Gln4441Glu)	CDCA7L, DNAH11 (Q4441E)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 454658	NM_001277115.2(DNAH11):c.13321C>T (p.Gln4441Ter)	CDCA7L, DNAH11 (Q4441*)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2694385	NM_001277115.2(DNAH11):c.13323A>G (p.Gln4441=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2001902	NM_001277115.2(DNAH11):c.13325C>G (p.Ala4442Gly)	CDCA7L, DNAH11 (A4442G)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1046755	NM_001277115.2(DNAH11):c.13328G>A (p.Gly4443Glu)	CDCA7L, DNAH11 (G4443E)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2903702	NM_001277115.2(DNAH11):c.13329A>T (p.Gly4443=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1770190	NM_001277115.2(DNAH11):c.13331C>G (p.Thr4444Ser)	CDCA7L, DNAH11 (T4444S)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1770208	NM_001277115.2(DNAH11):c.13342G>A (p.Ala4448Thr)	CDCA7L, DNAH11 (A4448T)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1678874	NM_001277115.2(DNAH11):c.13346_13367del (p.Arg4449fs)	CDCA7L, DNAH11 (R4449fs)	Deletion (3 prime UTR variant +1 more)	Primary ciliary dyskinesia +1 more	GLikely pathogenic
Select item 454659	NM_001277115.2(DNAH11):c.13345C>T (p.Arg4449Cys)	CDCA7L, DNAH11 (R4449C)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 525403	NM_001277115.2(DNAH11):c.13346G>A (p.Arg4449His)	CDCA7L, DNAH11 (R4449H)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 454660	NM_001277115.2(DNAH11):c.13351_13353del (p.Lys4451del)	CDCA7L, DNAH11 (K4451del)	Deletion (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
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 1451503	NM_001277115.2(DNAH11):c.13364_13415dup (p.Lys4473fs)	CDCA7L, DNAH11 (K4473fs)	Duplication (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 3221484	NM_001277115.2(DNAH11):c.13373C>G (p.Pro4458Arg)	CDCA7L, DNAH11 (P4458R)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 916128	NM_001277115.2(DNAH11):c.13373C>T (p.Pro4458Leu)	DNAH11, CDCA7L (P4458L)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 1169715	NM_001277115.2(DNAH11):c.13374G>A (p.Pro4458=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GBenign/Likely benign
Select item 525549	NM_001277115.2(DNAH11):c.13374G>C (p.Pro4458=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 525472	NM_001277115.2(DNAH11):c.13377C>T (p.Val4459=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 2919234	NM_001277115.2(DNAH11):c.13380_13383dup (p.Ala4462fs)	CDCA7L, DNAH11 (A4462fs)	Duplication (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2802655	NM_001277115.2(DNAH11):c.13383T>C (p.Phe4461=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1387283	NM_001277115.2(DNAH11):c.13389A>G (p.Lys4463=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2816939	NM_001277115.2(DNAH11):c.13395C>G (p.Thr4465=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2806095	NM_001277115.2(DNAH11):c.13396_13426dup (p.Tyr4476fs)	CDCA7L, DNAH11 (Y4476fs)	Duplication (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 1467325	NM_001277115.2(DNAH11):c.13396C>T (p.Pro4466Ser)	CDCA7L, DNAH11 (P4466S)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2853678	NM_001277115.2(DNAH11):c.13398C>A (p.Pro4466=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 359698	NM_001277115.2(DNAH11):c.13398C>T (p.Pro4466=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 359699	NM_001277115.2(DNAH11):c.13399G>A (p.Val4467Met)	CDCA7L, DNAH11 (V4467M)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 2697453	NM_001277115.2(DNAH11):c.13406_13409del (p.Arg4469fs)	CDCA7L, DNAH11 (R4469fs)	Microsatellite (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2758563	NM_001277115.2(DNAH11):c.13409_13424del (p.Gln4470fs)	CDCA7L, DNAH11 (Q4470fs)	Deletion (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 565515	NM_001277115.2(DNAH11):c.13407_13415dup (p.Thr4472_Lys4473insGlnGluThr)	CDCA7L, DNAH11	Duplication (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 238898	NM_001277115.2(DNAH11):c.13406G>A (p.Arg4469Lys)	DNAH11, CDCA7L (R4469K)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2833363	NM_001277115.2(DNAH11):c.13410A>G (p.Gln4470=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2784625	NM_001277115.2(DNAH11):c.13411_13423del (p.Glu4471fs)	CDCA7L, DNAH11 (E4471fs)	Deletion (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 945626	NM_001277115.2(DNAH11):c.13421_13453del (p.Gln4474_Lys4484del)	CDCA7L, DNAH11	Deletion (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 2838485	NM_001277115.2(DNAH11):c.13416_13428del (p.Lys4473fs)	CDCA7L, DNAH11 (K4473fs)	Deletion (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2733656	NM_001277115.2(DNAH11):c.13416_13449dup (p.Lys4484delinsGlnThrAspLeuArgValProCysValTer)	CDCA7L, DNAH11	Duplication (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2840690	NM_001277115.2(DNAH11):c.13416del (p.Lys4473fs)	CDCA7L, DNAH11 (K4473fs)	Deletion (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 1012795	NM_001277115.2(DNAH11):c.13418_13421dup (p.Tyr4476fs)	CDCA7L, DNAH11 (Y4476fs)	Duplication (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3381021	NM_001277115.2(DNAH11):c.13418_13421del (p.Lys4473fs)	CDCA7L, DNAH11 (K4473fs)	Deletion (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 2740723	NM_001277115.2(DNAH11):c.13416C>T (p.Thr4472=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2724033	NM_001277115.2(DNAH11):c.13420C>T (p.Gln4474Ter)	CDCA7L, DNAH11 (Q4474*)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 1971166	NM_001277115.2(DNAH11):c.13420C>G (p.Gln4474Glu)	CDCA7L, DNAH11 (Q4474E)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1388713	NM_001277115.2(DNAH11):c.13420C>A (p.Gln4474Lys)	CDCA7L, DNAH11 (Q4474K)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 525312	NM_001277115.2(DNAH11):c.13424_13456del (p.Thr4475_Leu4485del)	CDCA7L, DNAH11	Deletion (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2045856	NM_001277115.2(DNAH11):c.13425C>T (p.Thr4475=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2720779	NM_001277115.2(DNAH11):c.13429_13449dup (p.Thr4483_Lys4484insGluCysProValTyrArgThr)	CDCA7L, DNAH11	Duplication (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1770385	NM_001277115.2(DNAH11):c.13428C>T (p.Tyr4476=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 658258	NM_001277115.2(DNAH11):c.13429G>A (p.Glu4477Lys)	DNAH11, CDCA7L (E4477K)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 525306	NM_001277115.2(DNAH11):c.13429G>T (p.Glu4477Ter)	CDCA7L, DNAH11 (E4477*)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2715832	NM_001277115.2(DNAH11):c.13431G>A (p.Glu4477=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2759706	NM_001277115.2(DNAH11):c.13439_13449dup (p.Lys4484fs)	CDCA7L, DNAH11 (K4484fs)	Duplication (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 3083504	NM_001277115.2(DNAH11):c.13439T>C (p.Val4480Ala)	CDCA7L, DNAH11 (V4480A)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 955033	NM_001277115.2(DNAH11):c.13444A>G (p.Arg4482Gly)	CDCA7L, DNAH11 (R4482G)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 977565	NM_001277115.2(DNAH11):c.13445G>C (p.Arg4482Thr)	CDCA7L, DNAH11 (R4482T)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 568202	NM_001277115.2(DNAH11):c.13445G>A (p.Arg4482Lys)	CDCA7L, DNAH11 (R4482K)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2848096	NM_001277115.2(DNAH11):c.13446A>G (p.Arg4482=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2920353	NM_001277115.2(DNAH11):c.13449C>A (p.Thr4483=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1403283	NM_001277115.2(DNAH11):c.13451_13452dup (p.Leu4485fs)	DNAH11, CDCA7L (L4485fs)	Duplication (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GPathogenic

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