ClinVar for MedGen (Select 394834) - 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 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 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 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 2921009	NM_001277115.2(DNAH11):c.9436G>C (p.Glu3146Gln)	DNAH11 (E3146Q +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7	GUncertain significance
Select item 2786785	NM_001277115.2(DNAH11):c.5005C>T (p.Gln1669Ter)	DNAH11 (Q1674* +1 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 7 +1 more	GPathogenic/Likely pathogenic
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 2682171	NM_001277115.2(DNAH11):c.5393A>C (p.Lys1798Thr)	DNAH11 (K1798T +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7	GUncertain significance
Select item 2664775	NM_001277115.2(DNAH11):c.7572G>T (p.Leu2524Phe)	DNAH11 (L2524F +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7	GUncertain significance
Select item 2585053	NM_001277115.2(DNAH11):c.12748A>T (p.Lys4250Ter)	DNAH11 (K4257* +1 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 7	GLikely pathogenic
Select item 2585052	NM_001277115.2(DNAH11):c.9483+2T>A	DNAH11	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia 7	GLikely pathogenic
Select item 2580176	NM_001277115.2(DNAH11):c.880C>T (p.Gln294Ter)	DNAH11 (Q294*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 7	GLikely pathogenic
Select item 2580175	NM_001277115.2(DNAH11):c.175del (p.Val59fs)	DNAH11 (V59fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 7	GLikely pathogenic
Select item 2575225	NM_001277115.1:c.5554_6181-2105delinsGGTA	DNAH11	Indel	Primary ciliary dyskinesia 7	GLikely pathogenic
Select item 2500287	NM_001277115.2(DNAH11):c.3040C>T (p.Gln1014Ter)	DNAH11, LOC126859961 (Q1014*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 7	GPathogenic
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 2499481	NM_001277115.2(DNAH11):c.3425+2T>A	DNAH11, LOC126859961	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia 7	GLikely pathogenic
Select item 2445215	NM_001277115.2(DNAH11):c.1848+1G>T	DNAH11	Single nucleotide variant (splice donor 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 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 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 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 2440907	NM_001277115.2(DNAH11):c.10332+30G>A	DNAH11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 7	GUncertain significance
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 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
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 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 2435935	NM_001277115.2(DNAH11):c.11839+1G>A	DNAH11	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia 7	GPathogenic
Select item 2431893	NM_001277115.2(DNAH11):c.3425+1_3425+4del	DNAH11, LOC126859961	Deletion (splice donor variant)	Primary ciliary dyskinesia 7	GLikely pathogenic
Select item 2431565	NM_001277115.2(DNAH11):c.3601G>T (p.Glu1201Ter)	DNAH11 (E1201*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 7	GLikely pathogenic
Select item 2428642	NM_001277115.2(DNAH11):c.1997C>A (p.Ala666Asp)	DNAH11 (A666D)	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 1805672	NM_001277115.2(DNAH11):c.12371T>C (p.Leu4124Ser)	DNAH11 (L4124S +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7 +1 more	GConflicting classifications of pathogenicity
Select item 1805664	NM_001277115.2(DNAH11):c.7999C>T (p.Gln2667Ter)	DNAH11 (Q2667* +1 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 7 +1 more	GPathogenic
Select item 1805022	NM_001277115.2(DNAH11):c.3910del (p.Arg1304fs)	DNAH11 (R1304fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 7 +1 more	GPathogenic
Select item 1804935	NM_001277115.2(DNAH11):c.12064G>C (p.Ala4022Pro)	DNAH11 (A4022P +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7	GLikely pathogenic
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 1803290	NM_001277115.2(DNAH11):c.13130C>T (p.Ser4377Phe)	DNAH11 (S4377F +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7	GLikely pathogenic
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 1803106	NM_001277115.2(DNAH11):c.12403C>A (p.Leu4135Ile)	DNAH11 (L4135I +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7	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 1741244	NM_001277115.2(DNAH11):c.4529A>T (p.Lys1510Met)	DNAH11 (K1515M +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7 +1 more	GUncertain significance
Select item 1707559	NM_001277115.2(DNAH11):c.6642del (p.Phe2214fs)	DNAH11 (F2214fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 7	GPathogenic
Select item 1707550	NM_001277115.2(DNAH11):c.3853-2202_4096-506del	DNAH11	Deletion (splice acceptor variant +1 more)	Primary ciliary dyskinesia 7	GPathogenic
Select item 1687221	NM_001277115.2(DNAH11):c.8099C>T (p.Thr2700Met)	DNAH11 (T2700M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7 +1 more	GConflicting classifications of pathogenicity
Select item 1685752	NM_001277115.2(DNAH11):c.2923G>T (p.Glu975Ter)	DNAH11 (E975*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 7 +1 more	GPathogenic
Select item 1679584	NM_001277115.2(DNAH11):c.11839+219T>G	DNAH11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 7	GUncertain significance
Select item 1676058	NM_001277115.2(DNAH11):c.3791_3792del (p.Arg1264fs)	DNAH11 (R1264fs)	Microsatellite (frameshift variant)	Primary ciliary dyskinesia +2 more	GPathogenic/Likely pathogenic
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 1574572	NM_018719.5(CDCA7L):c.*1334G>A	CDCA7L, DNAH11	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia 7 +1 more	GLikely benign
Select item 1512584	NM_001277115.2(DNAH11):c.13175C>T (p.Thr4392Met)	DNAH11 (T4392M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +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 1480087	NM_001277115.2(DNAH11):c.5413A>G (p.Ile1805Val)	DNAH11 (I1805V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7 +1 more	GConflicting classifications of pathogenicity
Select item 1477720	NM_001277115.2(DNAH11):c.3000+3A>G	DNAH11, LOC126859961	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
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 1401536	NM_001277115.2(DNAH11):c.773T>C (p.Ile258Thr)	DNAH11 (I258T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7 +1 more	GConflicting classifications of pathogenicity
Select item 1393661	NM_001277115.2(DNAH11):c.11506G>A (p.Val3836Ile)	DNAH11 (V3836I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7 +1 more	GConflicting classifications of pathogenicity
Select item 1339540	NM_001277115.2(DNAH11):c.5247G>A (p.Trp1749Ter)	DNAH11 (W1749*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 7 +1 more	GPathogenic/Likely pathogenic
Select item 1330581	NM_001277115.2(DNAH11):c.495+18A>G	DNAH11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 1328178	NM_001277115.2(DNAH11):c.12933+1G>A	DNAH11	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia 7	GLikely pathogenic
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 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 1324266	NM_001277115.2(DNAH11):c.379_383del (p.Val127fs)	DNAH11 (V127fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 7	GLikely pathogenic
Select item 1299656	NM_001277115.2(DNAH11):c.10055C>T (p.Thr3352Met)	DNAH11 (T3352M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1255515	NM_001277115.2(DNAH11):c.11691-19A>G	DNAH11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +2 more	GBenign
Select item 1255514	NM_001277115.2(DNAH11):c.4945-34A>G	DNAH11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 7 +1 more	GBenign
Select item 1254481	NM_001277115.2(DNAH11):c.8317-16C>G	DNAH11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 1252515	NM_001277115.2(DNAH11):c.8797+23T>C	DNAH11	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1249889	NM_001277115.2(DNAH11):c.13162+23C>A	DNAH11	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 7 +1 more	GBenign
Select item 1172765	NM_001277115.2(DNAH11):c.11352C>A (p.Phe3784Leu)	DNAH11 (F3784L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7 +1 more	GConflicting classifications of pathogenicity
Select item 1172764	NM_001277115.2(DNAH11):c.6934T>C (p.Ser2312Pro)	DNAH11 (S2312P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7	GUncertain significance
Select item 1130408	NM_001277115.2(DNAH11):c.11042T>C (p.Val3681Ala)	DNAH11 (V3681A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7 +2 more	GConflicting classifications of pathogenicity
Select item 1055080	NM_001277115.2(DNAH11):c.2374A>C (p.Ile792Leu)	DNAH11 (I792L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1048773	NM_001277115.2(DNAH11):c.1987C>G (p.Pro663Ala)	DNAH11 (P663A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1048651	NM_001277115.2(DNAH11):c.9587_9595dup (p.Thr3196_Asn3198dup)	DNAH11	Duplication (inframe_insertion)	Primary ciliary dyskinesia 7	GLikely pathogenic
Select item 1048650	NM_001277115.2(DNAH11):c.1151T>A (p.Val384Asp)	DNAH11 (V384D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7	GUncertain significance
Select item 1045999	NM_001277115.2(DNAH11):c.1513C>T (p.His505Tyr)	DNAH11 (H505Y)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1033403	NM_001277115.2(DNAH11):c.3456G>A (p.Glu1152=)	DNAH11	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1031277	NM_001277115.2(DNAH11):c.8809G>A (p.Asp2937Asn)	DNAH11 (D2937N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1030336	NM_001277115.2(DNAH11):c.4828T>C (p.Cys1610Arg)	DNAH11 (C1610R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7	GUncertain significance
Select item 1030335	NM_001277115.2(DNAH11):c.3223C>T (p.Gln1075Ter)	DNAH11, LOC126859961 (Q1075*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 1030334	NM_001277115.2(DNAH11):c.12992C>T (p.Thr4331Met)	DNAH11 (T4331M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1030333	NM_001277115.2(DNAH11):c.11534G>T (p.Arg3845Leu)	DNAH11 (R3845L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7 +1 more	GConflicting classifications of pathogenicity
Select item 1030332	NM_001277115.2(DNAH11):c.10795C>G (p.Gln3599Glu)	DNAH11 (Q3599E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7 +1 more	GUncertain significance
Select item 1026837	NM_001277115.2(DNAH11):c.13112C>T (p.Pro4371Leu)	DNAH11 (P4371L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1012793	NM_001277115.2(DNAH11):c.5528A>C (p.His1843Pro)	DNAH11 (H1843P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1012320	NM_001277115.2(DNAH11):c.9454A>T (p.Lys3152Ter)	DNAH11 (K3152*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 7	GPathogenic
Select item 1012304	NM_001277115.2(DNAH11):c.8769_8785del (p.Val2924fs)	DNAH11 (V2924fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 7	GPathogenic
Select item 1012303	NM_001277115.2(DNAH11):c.7441-1G>C	DNAH11	Single nucleotide variant (splice acceptor 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 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 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 970151	NM_001277115.2(DNAH11):c.2750A>T (p.Glu917Val)	DNAH11 (E917V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7 +1 more	GLikely benign
Select item 959423	NM_001277115.2(DNAH11):c.6817G>A (p.Val2273Ile)	DNAH11 (V2273I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 7 +1 more	GConflicting classifications of pathogenicity

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