ClinVar for MedGen (Select 1646059) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1903913	NM_012144.4(DNAI1):c.1019G>A (p.Trp340Ter)	DNAI1 (W340* +1 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 1778831	NM_012144.4(DNAI1):c.1724C>T (p.Pro575Leu)	DNAI1 (P579L +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1691112	NM_145038.5(DRC1):c.156-1724_244-2550del	DRC1	Deletion (splice acceptor variant +1 more)	Kartagener syndrome	GLikely pathogenic
Select item 1503192	NM_012144.4(DNAI1):c.817-2A>G	DNAI1	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia +1 more	GLikely pathogenic
Select item 1393260	NM_012144.4(DNAI1):c.1001C>T (p.Ser334Phe)	DNAI1 (S334F +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1351271	NM_012144.4(DNAI1):c.1935T>G (p.Ile645Met)	DNAI1 (I649M +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1343810	NM_012144.4(DNAI1):c.1352TCT[1] (p.Phe452del)	DNAI1 (F452del +1 more)	Microsatellite (inframe_deletion)	Kartagener syndrome	GUncertain significance
Select item 1343809	NM_012144.4(DNAI1):c.1871del (p.Pro624fs)	DNAI1 (P624fs +1 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 1324283	NM_012144.4(DNAI1):c.1688G>A (p.Trp563Ter)	DNAI1 (W563* +1 more)	Single nucleotide variant (nonsense)	Kartagener syndrome	GLikely pathogenic
Select item 1210399	NM_012144.4(DNAI1):c.1311+2T>C	DNAI1	Single nucleotide variant (splice donor variant)	Kartagener syndrome	GLikely pathogenic
Select item 1199338	NM_012144.4(DNAI1):c.98C>T (p.Thr33Ile)	DNAI1 (T33I)	Single nucleotide variant (missense variant)	Kartagener syndrome	GUncertain significance
Select item 1184556	NM_012144.4(DNAI1):c.565_566del (p.Leu188_Thr189insTer)	DNAI1	Deletion (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 1177022	NM_012144.4(DNAI1):c.1489+130G>A	DNAI1	Single nucleotide variant (intron variant)	Kartagener syndrome +1 more	GBenign
Select item 1177009	NM_012144.4(DNAI1):c.902-125G>T	DNAI1	Single nucleotide variant (intron variant)	Kartagener syndrome +1 more	GBenign
Select item 1065572	NM_012144.4(DNAI1):c.1205G>A (p.Gly402Asp)	DNAI1 (G402D +1 more)	Single nucleotide variant (missense variant)	Kartagener syndrome +1 more	GUncertain significance
Select item 996146	NM_145045.5(ODAD3):c.1166_1169dup (p.Leu391fs)	ODAD3 (L331fs +2 more)	Duplication (frameshift variant)	Kartagener syndrome	GPathogenic
Select item 992990	NM_012144.4(DNAI1):c.1311+2T>A	DNAI1	Single nucleotide variant (splice donor variant)	Kartagener syndrome	GPathogenic
Select item 966354	NM_012144.4(DNAI1):c.994C>A (p.Arg332Ser)	DNAI1 (R332S +1 more)	Single nucleotide variant (missense variant)	Kartagener syndrome +1 more	GConflicting classifications of pathogenicity
Select item 953878	NM_012144.4(DNAI1):c.22G>C (p.Ala8Pro)	DNAI1 (A8P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 952542	NM_012144.4(DNAI1):c.1212T>G (p.Tyr404Ter)	DNAI1 (Y404* +1 more)	Single nucleotide variant (nonsense)	Kartagener syndrome +1 more	GPathogenic/Likely pathogenic
Select item 915247	NM_012144.4(DNAI1):c.1818+15C>A	DNAI1	Single nucleotide variant (intron variant)	Kartagener syndrome	GUncertain significance
Select item 915246	NM_012144.4(DNAI1):c.1772C>T (p.Ala591Val)	DNAI1 (A591V +1 more)	Single nucleotide variant (missense variant)	Kartagener syndrome +1 more	GUncertain significance
Select item 915245	NM_012144.4(DNAI1):c.1551G>A (p.Glu517=)	DNAI1	Single nucleotide variant (synonymous variant)	Kartagener syndrome +1 more	GConflicting classifications of pathogenicity
Select item 915204	NM_012144.4(DNAI1):c.385G>A (p.Ala129Thr)	DNAI1 (A129T)	Single nucleotide variant (missense variant)	Kartagener syndrome	GUncertain significance
Select item 914012	NM_012144.4(DNAI1):c.1407G>T (p.Lys469Asn)	DNAI1 (K469N +1 more)	Single nucleotide variant (missense variant)	Kartagener syndrome +1 more	GUncertain significance
Select item 913968	NM_012144.4(DNAI1):c.355C>T (p.Arg119Trp)	DNAI1 (R119W)	Single nucleotide variant (missense variant)	Kartagener syndrome	GUncertain significance
Select item 913967	NM_012144.4(DNAI1):c.262-8C>A	DNAI1	Single nucleotide variant (intron variant)	Kartagener syndrome	GUncertain significance
Select item 913966	NM_012144.4(DNAI1):c.203G>A (p.Arg68Gln)	DNAI1 (R68Q)	Single nucleotide variant (missense variant)	Kartagener syndrome	GUncertain significance
Select item 913965	NM_012144.4(DNAI1):c.181G>A (p.Glu61Lys)	DNAI1 (E61K)	Single nucleotide variant (missense variant)	Kartagener syndrome	GUncertain significance
Select item 913614	NM_012144.4(DNAI1):c.919G>A (p.Asp307Asn)	DNAI1 (D307N +1 more)	Single nucleotide variant (missense variant)	Kartagener syndrome	GUncertain significance
Select item 913580	NM_012144.4(DNAI1):c.-116T>C	DNAI1, LOC113839546	Single nucleotide variant (5 prime UTR variant)	Kartagener syndrome	GLikely benign
Select item 912556	NM_012144.4(DNAI1):c.*163C>G	DNAI1	Single nucleotide variant (3 prime UTR variant)	Kartagener syndrome	GUncertain significance
Select item 912555	NM_012144.4(DNAI1):c.2048C>T (p.Ala683Val)	DNAI1 (A687V +1 more)	Single nucleotide variant (missense variant)	Kartagener syndrome +1 more	GUncertain significance
Select item 912554	NM_012144.4(DNAI1):c.2029G>A (p.Gly677Ser)	DNAI1 (G677S +1 more)	Single nucleotide variant (missense variant)	Kartagener syndrome	GUncertain significance
Select item 912502	NM_012144.4(DNAI1):c.727A>G (p.Lys243Glu)	DNAI1 (K243E +1 more)	Single nucleotide variant (missense variant)	Kartagener syndrome +1 more	GUncertain significance
Select item 912501	NM_012144.4(DNAI1):c.676A>C (p.Asn226His)	DNAI1 (N226H +1 more)	Single nucleotide variant (missense variant)	Kartagener syndrome +2 more	GUncertain significance
Select item 912500	NM_012144.4(DNAI1):c.614C>G (p.Pro205Arg)	DNAI1 (P209R +1 more)	Single nucleotide variant (missense variant)	Kartagener syndrome	GUncertain significance
Select item 747450	NM_012144.4(DNAI1):c.501+10A>C	DNAI1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 697322	NM_012144.4(DNAI1):c.2064G>A (p.Leu688=)	DNAI1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 697106	NM_012144.4(DNAI1):c.1923C>T (p.His641=)	DNAI1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GBenign/Likely benign
Select item 695799	NM_012144.4(DNAI1):c.1878G>A (p.Ala626=)	DNAI1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GBenign/Likely benign
Select item 695316	NM_012144.4(DNAI1):c.551A>G (p.Lys184Arg)	DNAI1 (K184R +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 646518	NM_012144.4(DNAI1):c.1163G>A (p.Cys388Tyr)	DNAI1 (C392Y +1 more)	Single nucleotide variant (missense variant)	Kartagener syndrome +1 more	GConflicting classifications of pathogenicity
Select item 639604	NM_012144.4(DNAI1):c.1693G>A (p.Val565Met)	DNAI1 (V565M +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 583106	NM_012144.4(DNAI1):c.1612G>A (p.Ala538Thr)	DNAI1 (A538T +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 572996	NM_012144.4(DNAI1):c.358C>T (p.Arg120Trp)	DNAI1 (R120W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 570780	NM_012144.4(DNAI1):c.1454C>T (p.Thr485Met)	DNAI1 (T485M +1 more)	Single nucleotide variant (missense variant)	Kartagener syndrome +2 more	GConflicting classifications of pathogenicity
Select item 551835	NM_012144.4(DNAI1):c.520G>A (p.Glu174Lys)	DNAI1 (E174K +1 more)	Single nucleotide variant (missense variant)	Kartagener syndrome +2 more	GConflicting classifications of pathogenicity
Select item 551000	NM_012144.4(DNAI1):c.1987C>T (p.Arg663Cys)	DNAI1 (R663C +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 525536	NM_012144.4(DNAI1):c.1523T>C (p.Ile508Thr)	DNAI1 (I508T +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 525451	NM_012144.4(DNAI1):c.1003G>T (p.Val335Phe)	DNAI1 (V335F +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 488403	NM_001369.3(DNAH5):c.4530del (p.Asn1511fs)	DNAH5 (N1511fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 488402	NM_017950.4(CCDC40):c.1989+1G>A	CCDC40	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia	GPathogenic
Select item 488401	NM_001369.3(DNAH5):c.6000C>A (p.Tyr2000Ter)	DNAH5 (Y2000*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 454837	NM_012144.4(DNAI1):c.476G>A (p.Ser159Asn)	DNAI1 (S159N +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 454836	NM_012144.4(DNAI1):c.389-1G>C	DNAI1 (G134R)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 454832	NM_012144.4(DNAI1):c.1736A>G (p.Tyr579Cys)	DNAI1 (Y579C +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 454827	NM_012144.4(DNAI1):c.1265_1267del (p.Phe422del)	DNAI1 (F422del +1 more)	Deletion (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 454824	NM_012144.4(DNAI1):c.1145G>A (p.Ser382Asn)	DNAI1 (S382N +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 411844	NM_012144.4(DNAI1):c.1188del (p.Tyr397fs)	DNAI1 (Y397fs +1 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 411843	NM_012144.4(DNAI1):c.1401+3G>A	DNAI1	Single nucleotide variant (intron variant)	Kartagener syndrome +1 more	GUncertain significance
Select item 411842	NM_012144.4(DNAI1):c.1822C>A (p.His608Asn)	DNAI1 (H608N +1 more)	Single nucleotide variant (missense variant)	Kartagener syndrome +2 more	GUncertain significance
Select item 366694	NM_012144.4(DNAI1):c.1913A>G (p.Asn638Ser)	DNAI1 (N638S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 366693	NM_012144.4(DNAI1):c.1719-11C>T	DNAI1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 366692	NM_012144.4(DNAI1):c.1489+8C>A	DNAI1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 366691	NM_012144.4(DNAI1):c.1291C>G (p.His431Asp)	DNAI1 (H431D +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 366690	NM_012144.4(DNAI1):c.1195G>A (p.Val399Met)	DNAI1 (V399M +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 366689	NM_012144.4(DNAI1):c.1020-14A>T	DNAI1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 366688	NM_012144.4(DNAI1):c.649C>G (p.Pro217Ala)	DNAI1 (P217A +1 more)	Single nucleotide variant (missense variant)	Kartagener syndrome	GUncertain significance
Select item 366687	NM_012144.4(DNAI1):c.638C>T (p.Thr213Met)	DNAI1 (T213M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 366686	NM_012144.4(DNAI1):c.389-15C>T	DNAI1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 366685	NM_012144.4(DNAI1):c.359G>A (p.Arg120Gln)	DNAI1 (R120Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 366684	NM_012144.4(DNAI1):c.169T>C (p.Leu57=)	DNAI1	Single nucleotide variant (synonymous variant)	DNAI1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 366682	NM_012144.4(DNAI1):c.-83G>C	DNAI1, LOC113839546	Single nucleotide variant (5 prime UTR variant)	Kartagener syndrome	GUncertain significance
Select item 366681	NM_012144.4(DNAI1):c.-145C>T	DNAI1, LOC113839546	Single nucleotide variant (5 prime UTR variant)	Kartagener syndrome	GUncertain significance
Select item 366678	NM_012144.4(DNAI1):c.-180G>A	DNAI1, LOC113839546	Single nucleotide variant (5 prime UTR variant)	Kartagener syndrome	GUncertain significance
Select item 260206	NM_012144.4(DNAI1):c.660C>T (p.Asn220=)	DNAI1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 260200	NM_012144.4(DNAI1):c.1401+17G>A	DNAI1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 260194	NM_012144.4(DNAI1):c.1019+42C>T	DNAI1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 240859	NM_012144.4(DNAI1):c.978A>C (p.Gln326His)	DNAI1 (Q326H +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
Select item 240857	NM_012144.4(DNAI1):c.520GAA[2] (p.Glu176del)	DNAI1 (E176del +1 more)	Microsatellite (inframe_deletion)	DNAI1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 240855	NM_012144.4(DNAI1):c.1929C>A (p.Ile643=)	DNAI1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 240854	NM_012144.4(DNAI1):c.1644G>A (p.Trp548Ter)	DNAI1 (W548* +1 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 240853	NM_012144.4(DNAI1):c.1307G>A (p.Trp436Ter)	DNAI1 (W436* +1 more)	Single nucleotide variant (nonsense)	Kartagener syndrome +1 more	GPathogenic/Likely pathogenic
Select item 226609	NM_012144.4(DNAI1):c.639G>A (p.Thr213=)	DNAI1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 220955	NM_012144.4(DNAI1):c.862C>T (p.Arg288Trp)	DNAI1 (R288W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 216677	NM_012144.4(DNAI1):c.1948C>T (p.Arg650Cys)	DNAI1 (R650C +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 209005	NM_015512.5(DNAH1):c.3460A>C (p.Lys1154Gln)	DNAH1 (K1154Q)	Single nucleotide variant (missense variant)	Spermatogenic failure 18 +1 more	GLikely pathogenic
Select item 209000	NM_003114.5(SPAG1):c.902_906del (p.Lys301fs)	SPAG1 (K301fs)	Deletion (frameshift variant)	Kartagener syndrome	Gnot provided
Select item 208996	NM_012472.6(DNAAF11):c.630del (p.Trp210fs)	DNAAF11 (W128fs +2 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 208994	NM_001010892.3(RSPH4A):c.166dup (p.Arg56fs)	LOC129997052, RSPH4A (R56fs)	Duplication (frameshift variant)	Kartagener syndrome	Gnot provided
Select item 208993	NM_018139.3(DNAAF2):c.31del (p.Glu11fs)	DNAAF2 (E11fs)	Deletion (frameshift variant)	Kartagener syndrome	Gnot provided
Select item 208992	NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter)	DNAH5 (Q1450*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 208847	NM_018139.3(DNAAF2):c.1199_1214dup (p.Gly406fs)	DNAAF2, LOC130055542 (G406fs)	Duplication (frameshift variant +1 more)	Primary ciliary dyskinesia 10	GPathogenic
Select item 197793	NM_012144.4(DNAI1):c.370C>T (p.Arg124Cys)	DNAI1 (R124C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 194774	NM_017950.4(CCDC40):c.2824_2825insCTGT (p.Arg942fs)	CCDC40 (R942fs)	Insertion (frameshift variant)	not provided +2 more	GPathogenic
Select item 194245	NM_012144.4(DNAI1):c.1222G>A (p.Val408Met)	DNAI1 (V408M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 163166	NM_012144.4(DNAI1):c.1825A>T (p.Ile609Leu)	DNAI1 (I609L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 163165	NM_012144.4(DNAI1):c.1460T>G (p.Val487Gly)	DNAI1 (V487G +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 163164	NM_012144.4(DNAI1):c.1003G>A (p.Val335Ile)	DNAI1 (V335I +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign

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