"Ambry Genetics"[submitter] AND "ODAD1"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 163

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 700372	NM_001364171.2(ODAD1):c.2117G>A (p.Arg706Gln)	ODAD1 (R669Q +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1682849	NM_001364171.2(ODAD1):c.2116C>T (p.Arg706Trp)	ODAD1 (R669W +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 723021	NM_001364171.2(ODAD1):c.2091G>A (p.Pro697=)	ODAD1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1799700	NM_001364171.2(ODAD1):c.2090C>T (p.Pro697Leu)	ODAD1 (P660L +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 696109	NM_001364171.2(ODAD1):c.2056G>A (p.Val686Ile)	ODAD1 (V686I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1023410	NM_001364171.2(ODAD1):c.2047A>G (p.Arg683Gly)	ODAD1 (R646G +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1800041	NM_001364171.2(ODAD1):c.2044A>G (p.Ser682Gly)	ODAD1 (S645G +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1682852	NM_001364171.2(ODAD1):c.2037C>T (p.Leu679=)	ODAD1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 582012	NM_001364171.2(ODAD1):c.2028C>A (p.Ser676Arg)	ODAD1 (S639R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 241876	NM_001364171.2(ODAD1):c.2027G>A (p.Ser676Asn)	ODAD1 (S639N +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 262497	NM_001364171.2(ODAD1):c.2024C>T (p.Ser675Leu)	ODAD1 (S638L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 262496	NM_001364171.2(ODAD1):c.2019T>C (p.Ser673=)	ODAD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1799717	NM_001364171.2(ODAD1):c.1975G>A (p.Gly659Arg)	ODAD1 (G622R +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 262495	NM_001364171.2(ODAD1):c.1974C>T (p.Gly658=)	ODAD1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 2449176	NM_001364171.2(ODAD1):c.1973G>A (p.Gly658Asp)	ODAD1 (G621D +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 952160	NM_001364171.2(ODAD1):c.1973del (p.Gly658fs)	ODAD1 (G621fs +1 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 454969	NM_001364171.2(ODAD1):c.1957G>A (p.Val653Met)	ODAD1 (V616M +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 525244	NM_001364171.2(ODAD1):c.1937A>T (p.Tyr646Phe)	ODAD1 (Y609F +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1682855	NM_001364171.2(ODAD1):c.1932C>G (p.Ser644Arg)	ODAD1 (S607R +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2273287	NM_001364171.2(ODAD1):c.1927G>T (p.Ala643Ser)	ODAD1 (A643S +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1799830	NM_001364171.2(ODAD1):c.1925G>A (p.Ser642Asn)	ODAD1 (S605N +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 525370	NM_001364171.2(ODAD1):c.1906G>A (p.Val636Met)	ODAD1 (V599M +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2052492	NM_001364171.2(ODAD1):c.1876G>A (p.Gly626Ser)	ODAD1 (G589S +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 698373	NM_001364171.2(ODAD1):c.1866C>T (p.His622=)	ODAD1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GBenign/Likely benign
Select item 2051366	NM_001364171.2(ODAD1):c.1844A>G (p.His615Arg)	ODAD1 (H578R +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 662204	NM_001364171.2(ODAD1):c.1822C>T (p.His608Tyr)	ODAD1 (H608Y +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 3229183	NM_001364171.2(ODAD1):c.1801G>A (p.Gly601Ser)	ODAD1 (G564S +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 855681	NM_001364171.2(ODAD1):c.1796T>C (p.Phe599Ser)	ODAD1 (F599S +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 241875	NM_001364171.2(ODAD1):c.1788C>T (p.His596=)	ODAD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1682858	NM_001364171.2(ODAD1):c.1786C>T (p.His596Tyr)	ODAD1 (H559Y +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1799634	NM_001364171.2(ODAD1):c.1783G>C (p.Gly595Arg)	ODAD1 (G558R +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1799652	NM_001364171.2(ODAD1):c.1738G>A (p.Gly580Arg)	ODAD1 (G543R +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 262494	NM_001364171.2(ODAD1):c.1737C>T (p.Pro579=)	ODAD1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 20 +3 more	GBenign
Select item 2468354	NM_001364171.2(ODAD1):c.1727A>G (p.His576Arg)	ODAD1 (H539R +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 454967	NM_001364171.2(ODAD1):c.1702G>A (p.Val568Ile)	ODAD1 (V531I +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GBenign/Likely benign
Select item 2260657	NM_001364171.2(ODAD1):c.1690G>A (p.Gly564Ser)	ODAD1 (G527S +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 698640	NM_001364171.2(ODAD1):c.1689C>T (p.Ala563=)	ODAD1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1800191	NM_001364171.2(ODAD1):c.1674C>T (p.Ala558=)	ODAD1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 262493	NM_001364171.2(ODAD1):c.1672G>A (p.Ala558Thr)	ODAD1 (A521T +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 20 +3 more	GBenign/Likely benign
Select item 1800331	NM_001364171.2(ODAD1):c.1661G>C (p.Ser554Thr)	ODAD1 (S517T +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 262492	NM_001364171.2(ODAD1):c.1650C>T (p.Asp550=)	ODAD1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 695536	NM_001364171.2(ODAD1):c.1641G>A (p.Ala547=)	ODAD1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 406184	NM_001364171.2(ODAD1):c.1629CGC[5] (p.Ala547dup)	ODAD1	Microsatellite (inframe_insertion)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 1682861	NM_001364171.2(ODAD1):c.1640C>T (p.Ala547Val)	ODAD1 (A510V +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1800162	NM_001364171.2(ODAD1):c.1638C>T (p.Ala546=)	ODAD1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 241873	NM_001364171.2(ODAD1):c.1636G>A (p.Ala546Thr)	ODAD1 (A509T +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 20 +3 more	GBenign/Likely benign
Select item 696987	NM_001364171.2(ODAD1):c.1635C>T (p.Ala545=)	ODAD1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 241872	NM_001364171.2(ODAD1):c.1632C>T (p.Ala544=)	ODAD1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 20 +3 more	GBenign
Select item 2306362	NM_001364171.2(ODAD1):c.1628C>T (p.Ala543Val)	ODAD1 (A543V +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1799707	NM_001364171.2(ODAD1):c.1613G>A (p.Arg538His)	ODAD1 (R501H +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 696160	NM_001364171.2(ODAD1):c.1608G>A (p.Ala536=)	ODAD1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GBenign/Likely benign
Select item 1799616	NM_001364171.2(ODAD1):c.1606_1607delinsTT (p.Ala536Leu)	ODAD1 (A499L +1 more)	Indel (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 262491	NM_001364171.2(ODAD1):c.1606G>T (p.Ala536Ser)	ODAD1 (A499S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 2246111	NM_001364171.2(ODAD1):c.1554G>T (p.Glu518Asp)	ODAD1 (E518D +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 262489	NM_001364171.2(ODAD1):c.1514C>T (p.Pro505Leu)	ODAD1 (P468L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 262488	NM_001364171.2(ODAD1):c.1481C>T (p.Pro494Leu)	ODAD1 (P457L +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1800378	NM_001364171.2(ODAD1):c.1480C>T (p.Pro494Ser)	ODAD1 (P457S +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1800138	NM_001364171.2(ODAD1):c.1479C>G (p.Ala493=)	ODAD1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 951835	NM_001364171.2(ODAD1):c.1473G>T (p.Lys491Asn)	ODAD1 (K491N +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1800348	NM_001364171.2(ODAD1):c.1466C>T (p.Pro489Leu)	ODAD1 (P452L +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2281373	NM_001364171.2(ODAD1):c.1451G>A (p.Ser484Asn)	ODAD1 (S484N +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 241869	NM_001364171.2(ODAD1):c.1425C>T (p.Asp475=)	ODAD1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GBenign/Likely benign
Select item 454964	NM_001364171.2(ODAD1):c.1423G>A (p.Asp475Asn)	ODAD1 (D438N +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1800313	NM_001364171.2(ODAD1):c.1360C>A (p.Arg454=)	ODAD1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1682870	NM_001364171.2(ODAD1):c.1360C>T (p.Arg454Trp)	ODAD1 (R417W +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 938715	NM_001364171.2(ODAD1):c.1324C>T (p.Arg442Trp)	ODAD1 (R405W +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1800350	NM_001364171.2(ODAD1):c.1323C>T (p.Asp441=)	ODAD1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2314354	NM_001364171.2(ODAD1):c.1314C>A (p.Ser438Arg)	ODAD1 (S401R +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 854308	NM_001364171.2(ODAD1):c.1313G>A (p.Ser438Asn)	ODAD1 (S401N +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 2525680	NM_001364171.2(ODAD1):c.1275C>G (p.Asp425Glu)	ODAD1 (D388E +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 262484	NM_001364171.2(ODAD1):c.1275C>T (p.Asp425=)	ODAD1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 20 +3 more	GBenign/Likely benign
Select item 1129994	NM_001364171.2(ODAD1):c.1272C>T (p.Cys424=)	ODAD1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 2625962	NM_001364171.2(ODAD1):c.1260C>G (p.Thr420=)	ODAD1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2142849	NM_001364171.2(ODAD1):c.1237G>T (p.Ala413Ser)	ODAD1 (A413S +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3203973	NM_001364171.2(ODAD1):c.1229A>T (p.Lys410Met)	ODAD1 (K373M +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 241868	NM_001364171.2(ODAD1):c.1214G>A (p.Arg405Gln)	ODAD1 (R368Q +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 20 +2 more	GBenign
Select item 525427	NM_001364171.2(ODAD1):c.1198C>T (p.Arg400Cys)	ODAD1 (R363C +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 20 +1 more	GConflicting classifications of pathogenicity
Select item 2167015	NM_001364171.2(ODAD1):c.1195G>T (p.Ala399Ser)	ODAD1 (A399S +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 525383	NM_001364171.2(ODAD1):c.1192G>A (p.Glu398Lys)	ODAD1 (E361K +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 581376	NM_001364171.2(ODAD1):c.1186C>T (p.Arg396Cys)	ODAD1 (R359C +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 262483	NM_001364171.2(ODAD1):c.1176G>A (p.Ser392=)	ODAD1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 655876	NM_001364171.2(ODAD1):c.1175C>T (p.Ser392Leu)	ODAD1 (S392L +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GConflicting classifications of pathogenicity
Select item 454963	NM_001364171.2(ODAD1):c.1166A>G (p.Lys389Arg)	ODAD1 (K352R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1682873	NM_001364171.2(ODAD1):c.1157G>A (p.Arg386His)	ODAD1 (R349H +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1682874	NM_001364171.2(ODAD1):c.1148T>C (p.Leu383Ser)	ODAD1 (L346S +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3203972	NM_001364171.2(ODAD1):c.1132C>G (p.Gln378Glu)	ODAD1 (Q378E +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2290975	NM_001364171.2(ODAD1):c.1118A>G (p.His373Arg)	ODAD1 (H373R +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 262510	NM_001364171.2(ODAD1):c.1097G>A (p.Arg366His)	ODAD1 (R329H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1799806	NM_001364171.2(ODAD1):c.1092C>T (p.Ser364=)	ODAD1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2265644	NM_001364171.2(ODAD1):c.1088T>G (p.Val363Gly)	ODAD1 (V326G +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 582383	NM_001364171.2(ODAD1):c.1079A>T (p.Glu360Val)	ODAD1 (E323V +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 262509	NM_001364171.2(ODAD1):c.1071G>A (p.Glu357=)	ODAD1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 20 +3 more	GBenign
Select item 1800036	NM_001364171.2(ODAD1):c.1061A>C (p.Glu354Ala)	ODAD1 (E317A +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1097269	NM_001364171.2(ODAD1):c.1026C>T (p.Asn342=)	ODAD1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1799663	NM_001364171.2(ODAD1):c.996G>A (p.Glu332=)	ODAD1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1799573	NM_001364171.2(ODAD1):c.990C>T (p.Ile330=)	ODAD1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2626425	NM_001364171.2(ODAD1):c.943A>T (p.Met315Leu)	ODAD1 (M278L +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2143303	NM_001364171.2(ODAD1):c.943A>G (p.Met315Val)	ODAD1 (M278V +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2731231	NM_001364171.2(ODAD1):c.936C>T (p.Ser312=)	ODAD1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 262507	NM_001364171.2(ODAD1):c.918C>T (p.Asp306=)	ODAD1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign

<< First< Prev

Page of 2