28303[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 60235	GRCh38/hg38 19p13.2(chr19:11138895-11549951)x3	ANGPTL8, CCDC159 +52 more	Copy number gain	See cases	GUncertain significance
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 1264875	NC_000019.10:g.11420604=	ODAD3	Single nucleotide variant	not provided	GBenign
Select item 1215607	NM_145045.5(ODAD3):c.*101G>C	ODAD3	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 3203996	NM_145045.5(ODAD3):c.1769G>A (p.Arg590His)	ODAD3 (R530H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2063459	NM_145045.5(ODAD3):c.1759AAG[1] (p.Lys588del)	ODAD3 (K528del +2 more)	Microsatellite (inframe_deletion)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 2859102	NM_145045.5(ODAD3):c.1713C>T (p.Thr571=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 241943	NM_145045.5(ODAD3):c.1705G>T (p.Val569Leu)	ODAD3 (V569L +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30	GBenign
Select item 1682754	NM_145045.5(ODAD3):c.1689GGA[2] (p.Glu565del)	ODAD3 (E505del +2 more)	Microsatellite (inframe_deletion)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 3203995	NM_145045.5(ODAD3):c.1693G>A (p.Glu565Lys)	ODAD3 (E505K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203994	NM_145045.5(ODAD3):c.1690G>A (p.Glu564Lys)	ODAD3 (E510K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 738040	NM_145045.5(ODAD3):c.1676-4T>G	ODAD3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1682755	NM_145045.5(ODAD3):c.1676-10C>A	ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2047329	NM_145045.5(ODAD3):c.1676-17C>G	ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2197435	NM_145045.5(ODAD3):c.1675+18dup	ODAD3	Duplication (intron variant)	Primary ciliary dyskinesia 30	GBenign
Select item 2798341	NM_145045.5(ODAD3):c.1675+12T>A	ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2911230	NM_145045.5(ODAD3):c.1675+11G>A	ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2077749	NM_145045.5(ODAD3):c.1670T>G (p.Phe557Cys)	ODAD3 (F503C +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30 +1 more	GUncertain significance
Select item 1682756	NM_145045.5(ODAD3):c.1664A>G (p.Asp555Gly)	ODAD3 (D495G +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 2806882	NM_145045.5(ODAD3):c.1653C>T (p.Ala551=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2202454	NM_145045.5(ODAD3):c.1647C>T (p.Pro549=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 653643	NM_145045.5(ODAD3):c.1645C>A (p.Pro549Thr)	ODAD3 (P489T +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 3302166	NM_145045.5(ODAD3):c.1625A>G (p.Tyr542Cys)	ODAD3 (Y482C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 566365	NM_145045.5(ODAD3):c.1606G>A (p.Glu536Lys)	ODAD3 (E536K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2818289	NM_145045.5(ODAD3):c.1605A>G (p.Leu535=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2717219	NM_145045.5(ODAD3):c.1602C>T (p.Ser534=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 1682757	NM_145045.5(ODAD3):c.1590+10A>G	ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2085036	NM_145045.5(ODAD3):c.1590+9C>T	ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2914969	NM_145045.5(ODAD3):c.1590+8G>A	ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 1682758	NM_145045.5(ODAD3):c.1579G>T (p.Ala527Ser)	ODAD3 (A467S +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 725650	NM_145045.5(ODAD3):c.1578C>T (p.Ile526=)	ODAD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1682759	NM_145045.5(ODAD3):c.1568T>C (p.Leu523Pro)	ODAD3 (L463P +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 2097099	NM_145045.5(ODAD3):c.1559A>C (p.Gln520Pro)	ODAD3 (Q466P +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 2198199	NM_145045.5(ODAD3):c.1557G>A (p.Val519=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2027278	NM_145045.5(ODAD3):c.1554C>T (p.Asp518=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 956802	NM_145045.5(ODAD3):c.1552G>A (p.Asp518Asn)	ODAD3 (D458N +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 1682760	NM_145045.5(ODAD3):c.1524G>A (p.Leu508=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2846777	NM_145045.5(ODAD3):c.1519C>T (p.Leu507=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 846529	NM_145045.5(ODAD3):c.1507G>T (p.Val503Leu)	ODAD3 (V449L +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30 +1 more	GUncertain significance
Select item 414140	NM_145045.5(ODAD3):c.1501G>A (p.Gly501Ser)	ODAD3 (G501S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2728235	NM_145045.5(ODAD3):c.1500G>A (p.Leu500=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 544215	NM_145045.5(ODAD3):c.1490C>G (p.Pro497Arg)	ODAD3 (P497R +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 660391	NM_145045.5(ODAD3):c.1463T>C (p.Leu488Pro)	ODAD3 (L428P +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 3203993	NM_145045.5(ODAD3):c.1459G>C (p.Glu487Gln)	ODAD3 (E433Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2013393	NM_145045.5(ODAD3):c.1452G>A (p.Ala484=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 1979337	NM_145045.5(ODAD3):c.1441G>C (p.Gly481Arg)	ODAD3 (G427R +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30 +1 more	GUncertain significance
Select item 2183675	NM_145045.5(ODAD3):c.1440C>T (p.Asp480=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 949281	NM_145045.5(ODAD3):c.1435-5C>A	ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 2733869	NM_145045.5(ODAD3):c.1435-15C>A	ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2732219	NM_145045.5(ODAD3):c.1435-16T>C	ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2876868	NM_145045.5(ODAD3):c.1435-19G>C	ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2149264	NM_145045.5(ODAD3):c.1435-20C>T	ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 1224181	NM_145045.5(ODAD3):c.1434+115del	ODAD3	Deletion (intron variant)	not provided	GBenign
Select item 2079023	NM_145045.5(ODAD3):c.1429A>G (p.Thr477Ala)	ODAD3 (T417A +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 1997952	NM_145045.5(ODAD3):c.1402C>T (p.His468Tyr)	ODAD3 (H468Y +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 699092	NM_145045.5(ODAD3):c.1401G>A (p.Glu467=)	ODAD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2697887	NM_145045.5(ODAD3):c.1389G>A (p.Lys463=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 1682761	NM_145045.5(ODAD3):c.1380A>G (p.Gln460=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 644900	NM_145045.5(ODAD3):c.1361G>A (p.Arg454His)	ODAD3 (R394H +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 3203992	NM_145045.5(ODAD3):c.1346A>G (p.Lys449Arg)	ODAD3 (K389R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1682762	NM_145045.5(ODAD3):c.1345A>G (p.Lys449Glu)	ODAD3 (K389E +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 1086041	NM_145045.5(ODAD3):c.1344C>T (p.Ala448=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30 +1 more	GLikely benign
Select item 1682763	NM_145045.5(ODAD3):c.1342G>A (p.Ala448Thr)	ODAD3 (A388T +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 414139	NM_145045.5(ODAD3):c.1329G>A (p.Arg443=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2043313	NM_145045.5(ODAD3):c.1317G>A (p.Lys439=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 406818	NM_145045.5(ODAD3):c.1316A>G (p.Lys439Arg)	ODAD3 (K439R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2849781	NM_145045.5(ODAD3):c.1314C>T (p.Leu438=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2892450	NM_145045.5(ODAD3):c.1295C>G (p.Ala432Gly)	ODAD3 (A432G +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 1682764	NM_145045.5(ODAD3):c.1294G>A (p.Ala432Thr)	ODAD3 (A372T +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30 +1 more	GUncertain significance
Select item 2899322	NM_145045.5(ODAD3):c.1287A>G (p.Lys429=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 1682765	NM_145045.5(ODAD3):c.1277+12G>C	LOC130063574, ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 1682766	NM_145045.5(ODAD3):c.1277+6G>T	LOC130063574, ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 477979	NM_145045.5(ODAD3):c.1275G>A (p.Val425=)	LOC130063574, ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 156366	NM_145045.5(ODAD3):c.1256C>A (p.Ser419Ter)	ODAD3 (S419* +2 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 30	GPathogenic
Select item 1682767	NM_145045.5(ODAD3):c.1254C>T (p.Tyr418=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2175194	NM_145045.5(ODAD3):c.1246C>T (p.Leu416Phe)	ODAD3 (L362F +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 2868667	NM_145045.5(ODAD3):c.1239G>A (p.Leu413=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 1911613	NM_145045.5(ODAD3):c.1239G>C (p.Leu413=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 1040236	NM_145045.5(ODAD3):c.1213_1215del (p.Glu405del)	ODAD3 (E351del +2 more)	Deletion (inframe_deletion)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 2754088	NM_145045.5(ODAD3):c.1213G>A (p.Glu405Lys)	ODAD3 (E351K +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 544216	NM_145045.5(ODAD3):c.1204C>T (p.Leu402=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 414141	NM_145045.5(ODAD3):c.1203G>A (p.Arg401=)	ODAD3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3203990	NM_145045.5(ODAD3):c.1196T>G (p.Leu399Trp)	ODAD3 (L399W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620256	NM_145045.5(ODAD3):c.1195T>A (p.Leu399Met)	ODAD3 (L339M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2107459	NM_145045.5(ODAD3):c.1195T>C (p.Leu399=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 723812	NM_145045.5(ODAD3):c.1191G>A (p.Gln397=)	ODAD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 704147	NM_145045.5(ODAD3):c.1185C>T (p.Asn395=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2117896	NM_145045.5(ODAD3):c.1180G>A (p.Glu394Lys)	ODAD3 (E394K +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 1897210	NM_145045.5(ODAD3):c.1178G>A (p.Ser393Asn)	ODAD3 (S333N +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 1099133	NM_145045.5(ODAD3):c.1170G>T (p.Thr390=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 996146	NM_145045.5(ODAD3):c.1166_1169dup (p.Leu391fs)	ODAD3 (L331fs +2 more)	Duplication (frameshift variant)	Kartagener syndrome	GPathogenic
Select item 2903951	NM_145045.5(ODAD3):c.1164G>A (p.Leu388=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2905971	NM_145045.5(ODAD3):c.1137G>A (p.Leu379=)	ODAD3	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 30	GLikely benign
Select item 2165559	NM_145045.5(ODAD3):c.1130G>A (p.Arg377Gln)	ODAD3 (R317Q +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 30	GUncertain significance
Select item 3203989	NM_145045.5(ODAD3):c.1127G>T (p.Arg376Leu)	ODAD3 (R316L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 647642	NM_145045.5(ODAD3):c.1117-1G>C	ODAD3	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia 30	GLikely pathogenic
Select item 2731247	NM_145045.5(ODAD3):c.1117-5C>T	ODAD3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 30	GLikely benign

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