ClinVar for Gene (Select 55536) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3141034	NM_018719.5(CDCA7L):c.980A>G (p.Asp327Gly)	CDCA7L (D281G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141033	NM_018719.5(CDCA7L):c.946C>T (p.Arg316Cys)	CDCA7L (R270C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141032	NM_018719.5(CDCA7L):c.775G>A (p.Ala259Thr)	CDCA7L (A213T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141030	NM_018719.5(CDCA7L):c.610C>T (p.Arg204Trp)	CDCA7L (R204W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141029	NM_018719.5(CDCA7L):c.428G>A (p.Arg143Gln)	CDCA7L (R143Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141028	NM_018719.5(CDCA7L):c.1081A>G (p.Ile361Val)	CDCA7L (I315V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141027	NM_018719.5(CDCA7L):c.100C>T (p.Pro34Ser)	CDCA7L (P34S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	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 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 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 3010788	NM_001277115.2(DNAH11):c.13506T>G (p.Thr4502=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
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 2969697	NM_018719.5(CDCA7L):c.*1327dup	CDCA7L, DNAH11	Duplication (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GBenign
Select item 2956281	NM_001277115.2(DNAH11):c.13545A>G (p.Glu4515=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2955220	NM_018719.5(CDCA7L):c.1333_1334del	CDCA7L, DNAH11	Deletion (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 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 2917274	NM_018719.5(CDCA7L):c.*1328CA[1]	CDCA7L, DNAH11	Microsatellite (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2910777	NM_001277115.2(DNAH11):c.13457G>A (p.Arg4486Lys)	CDCA7L, DNAH11 (R4493K +1 more)	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 2896590	NM_001277115.2(DNAH11):c.13524T>C (p.Ala4508=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2896572	NM_018719.5(CDCA7L):c.*1330C>T	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2893769	NM_001277115.2(DNAH11):c.13480_13489dup (p.Lys4497fs)	CDCA7L, DNAH11 (K4497fs)	Duplication (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 2890820	NM_001277115.2(DNAH11):c.13313G>A (p.Trp4438Ter)	CDCA7L, DNAH11 (W4438* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2888264	NM_018719.5(CDCA7L):c.*1320G>A	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 2858135	NM_001277115.2(DNAH11):c.13539T>G (p.Leu4513=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
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 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 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 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 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 2820600	NM_001277115.2(DNAH11):c.13461C>A (p.Gly4487=)	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 2810834	NM_001277115.2(DNAH11):c.13521G>A (p.Leu4507=)	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)	DNAH11, CDCA7L (Y4476fs)	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 2790076	NM_001277115.2(DNAH11):c.13542A>G (p.Leu4514=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	DNAH11-related disorder +1 more	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 2781394	NM_001277115.2(DNAH11):c.13476dup (p.Thr4493fs)	CDCA7L, DNAH11 (T4493fs)	Duplication (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2767924	NM_018719.5(CDCA7L):c.*1335G>A	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 2759129	NM_001277115.2(DNAH11):c.13467C>T (p.Ser4489=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
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 2746067	NM_018719.5(CDCA7L):c.*1334G>C	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
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 2739591	NM_018719.5(CDCA7L):c.*1334G>T	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2733656	NM_001277115.2(DNAH11):c.13416_13449dup (p.Lys4484delinsGlnThrAspLeuArgValProCysValTer)	CDCA7L, DNAH11	Duplication (3 prime UTR variant +2 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2726681	NM_001277115.2(DNAH11):c.13530G>A (p.Val4510=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2726490	NM_018719.5(CDCA7L):c.*1321G>A	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 (Q4481* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2720779	NM_001277115.2(DNAH11):c.13429_13449dup (p.Thr4483_Lys4484insGluCysProValTyrArgThr)	CDCA7L, DNAH11	Duplication (3 prime UTR variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2719000	NM_001277115.2(DNAH11):c.13316A>G (p.Asp4439Gly)	CDCA7L, DNAH11 (D4446G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
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 2703683	NM_018719.5(CDCA7L):c.*1322C>A	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
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 2696899	NM_018719.5(CDCA7L):c.*1328C>G	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
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 2662022	NM_001277115.2(DNAH11):c.13321C>G (p.Gln4441Glu)	CDCA7L, DNAH11 (Q4441E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2636097	NM_001277115.2(DNAH11):c.13499A>G (p.Glu4500Gly)	CDCA7L, DNAH11 (E4500G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	DNAH11-related disorder	GUncertain significance
Select item 2560068	NM_018719.5(CDCA7L):c.629G>C (p.Ser210Thr)	CDCA7L (S164T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555325	NM_018719.5(CDCA7L):c.656T>C (p.Met219Thr)	CDCA7L (M185T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554252	NM_018719.5(CDCA7L):c.352G>A (p.Glu118Lys)	CDCA7L (E118K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553888	NM_018719.5(CDCA7L):c.539T>C (p.Leu180Pro)	CDCA7L (L146P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552151	NM_018719.5(CDCA7L):c.1159C>T (p.Arg387Cys)	CDCA7L (R353C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525995	NM_018719.5(CDCA7L):c.902G>A (p.Arg301Gln)	CDCA7L (R255Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517736	NM_018719.5(CDCA7L):c.512G>A (p.Arg171His)	CDCA7L (R137H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2517326	NM_018719.5(CDCA7L):c.880G>C (p.Ala294Pro)	CDCA7L (A260P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2500231	NM_001277115.2(DNAH11):c.13523_13524insCTGGAGTGGCTCTGCTTCTAG (p.Ala4508_Gly4509insTrpSerGlySerAlaSerSer)	CDCA7L, DNAH11	Insertion (3 prime UTR variant +2 more)	Primary ciliary dyskinesia 7	GLikely pathogenic
Select item 2496510	NM_001277115.2(DNAH11):c.13537C>A (p.Leu4513Ile)	CDCA7L, DNAH11 (L4520I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2484045	NM_018719.5(CDCA7L):c.322A>T (p.Ser108Cys)	CDCA7L (S74C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424085	NC_000007.13:g.(?_20994491)_(23030730_?)del	CDCA7L, DNAH11 +7 more	Deletion	Hypomyelination and Congenital Cataract +1 more	GPathogenic
Select item 2378703	NM_018719.5(CDCA7L):c.185C>G (p.Ser62Cys)	CDCA7L (S62C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322019	NM_018719.5(CDCA7L):c.1022G>A (p.Arg341Gln)	CDCA7L (R307Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300374	NM_018719.5(CDCA7L):c.469C>T (p.Pro157Ser)	CDCA7L (P123S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2289254	NM_018719.5(CDCA7L):c.932G>A (p.Arg311Gln)	CDCA7L (R265Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2279245	NM_018719.5(CDCA7L):c.1351G>T (p.Val451Leu)	CDCA7L (V405L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277349	NM_018719.5(CDCA7L):c.263C>T (p.Thr88Met)	CDCA7L (T54M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229418	NM_018719.5(CDCA7L):c.1225A>G (p.Ile409Val)	CDCA7L (I363V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211170	NM_018719.5(CDCA7L):c.364G>C (p.Asp122His)	CDCA7L (D76H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206127	NM_018719.5(CDCA7L):c.457C>G (p.Leu153Val)	CDCA7L (L119V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2200363	NM_001277115.2(DNAH11):c.13485G>A (p.Arg4495=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
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 2041084	NM_001277115.2(DNAH11):c.13319C>T (p.Thr4440Ile)	CDCA7L, DNAH11 (T4440I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2024972	NM_001277115.2(DNAH11):c.13475_13504dup (p.Lys4501_Thr4502insArgThrPheArgLeuLysSerGluGluLys)	CDCA7L, DNAH11	Duplication (3 prime UTR variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2001902	NM_001277115.2(DNAH11):c.13325C>G (p.Ala4442Gly)	CDCA7L, DNAH11 (A4442G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1984351	NM_018719.5(CDCA7L):c.*1335G>T	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1971166	NM_001277115.2(DNAH11):c.13420C>G (p.Gln4474Glu)	CDCA7L, DNAH11 (Q4474E +1 more)	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 +2 more)	Primary ciliary dyskinesia	GPathogenic
Select item 1808774	GRCh37/hg19 7p15.3(chr7:21713059-22067069)x3	CDCA7L, DNAH11	Copy number gain	not provided	GUncertain significance
Select item 1803252	NM_001277115.2(DNAH11):c.13472_13490dup (p.Lys4497fs)	CDCA7L, DNAH11 (K4497fs)	Duplication (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 7	GLikely pathogenic
Select item 1770446	NM_001277115.2(DNAH11):c.13455G>A (p.Leu4485=)	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GLikely benign
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 1770208	NM_001277115.2(DNAH11):c.13342G>A (p.Ala4448Thr)	CDCA7L, DNAH11 (A4448T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1770190	NM_001277115.2(DNAH11):c.13331C>G (p.Thr4444Ser)	CDCA7L, DNAH11 (T4451S +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic

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