LOC130055542[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	ABHD12B, ARF6 +394 more	Copy number gain	See cases	GLikely pathogenic
Select item 2917278	NM_018139.3(DNAAF2):c.1344G>A (p.Pro448=)	DNAAF2, LOC130055542	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2046422	NM_018139.3(DNAAF2):c.1331C>T (p.Ala444Val)	DNAAF2, LOC130055542 (A444V)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 416620	NM_018139.3(DNAAF2):c.1329C>T (p.His443=)	DNAAF2, LOC130055542	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 3272518	NM_018139.3(DNAAF2):c.1320G>C (p.Leu440Phe)	DNAAF2, LOC130055542 (L440F)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 313279	NM_018139.3(DNAAF2):c.1315G>C (p.Asp439His)	DNAAF2, LOC130055542 (D439H)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1769747	NM_018139.3(DNAAF2):c.1314G>A (p.Gln438=)	DNAAF2, LOC130055542	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1437834	NM_018139.3(DNAAF2):c.1312C>T (p.Gln438Ter)	DNAAF2, LOC130055542 (Q438*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2109489	NM_018139.3(DNAAF2):c.1309G>T (p.Glu437Ter)	DNAAF2, LOC130055542 (E437*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 1456514	NM_018139.3(DNAAF2):c.1300A>T (p.Lys434Ter)	DNAAF2, LOC130055542 (K434*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 261010	NM_018139.3(DNAAF2):c.1299C>T (p.Pro433=)	DNAAF2, LOC130055542	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3083325	NM_018139.3(DNAAF2):c.1292G>A (p.Arg431His)	DNAAF2, LOC130055542 (R431H)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2154179	NM_018139.3(DNAAF2):c.1280C>A (p.Ala427Asp)	DNAAF2, LOC130055542 (A427D)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 700493	NM_018139.3(DNAAF2):c.1273G>A (p.Ala425Thr)	DNAAF2, LOC130055542 (A425T)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 261009	NM_018139.3(DNAAF2):c.1269G>C (p.Pro423=)	DNAAF2, LOC130055542	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 3342120	NM_018139.3(DNAAF2):c.1257G>A (p.Glu419=)	DNAAF2, LOC130055542	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2051599	NM_018139.3(DNAAF2):c.1253C>T (p.Pro418Leu)	DNAAF2, LOC130055542 (P418L)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 840737	NM_018139.3(DNAAF2):c.1253C>G (p.Pro418Arg)	DNAAF2, LOC130055542 (P418R)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 525406	NM_018139.3(DNAAF2):c.1252C>G (p.Pro418Ala)	DNAAF2, LOC130055542 (P418A)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2385319	NM_018139.3(DNAAF2):c.1243C>G (p.Leu415Val)	DNAAF2, LOC130055542 (L415V)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2144456	NM_018139.3(DNAAF2):c.1239C>T (p.Thr413=)	DNAAF2, LOC130055542	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1404260	NM_018139.3(DNAAF2):c.1234G>T (p.Val412Phe)	DNAAF2, LOC130055542 (V412F)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1623395	NM_018139.3(DNAAF2):c.1230C>T (p.Ser410=)	DNAAF2, LOC130055542	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 454898	NM_018139.3(DNAAF2):c.1228T>C (p.Ser410Pro)	DNAAF2, LOC130055542 (S410P)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 525526	NM_018139.3(DNAAF2):c.1227C>G (p.Gly409=)	DNAAF2, LOC130055542	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2962012	NM_018139.3(DNAAF2):c.1218G>A (p.Gly406=)	DNAAF2, LOC130055542	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 313280	NM_018139.3(DNAAF2):c.1215T>G (p.Ala405=)	DNAAF2, LOC130055542	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 10	GUncertain significance
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 2581148	NM_018139.3(DNAAF2):c.1208G>A (p.Cys403Tyr)	DNAAF2, LOC130055542 (C403Y)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	Gnot provided
Select item 650880	NM_018139.3(DNAAF2):c.1203dup (p.Thr402fs)	DNAAF2, LOC130055542 (T402fs)	Duplication (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2261714	NM_018139.3(DNAAF2):c.1201G>A (p.Asp401Asn)	DNAAF2, LOC130055542 (D401N)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2138955	NM_018139.3(DNAAF2):c.1198C>T (p.His400Tyr)	DNAAF2, LOC130055542 (H400Y)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 579631	NM_018139.3(DNAAF2):c.1197C>T (p.Gly399=)	DNAAF2, LOC130055542	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2010585	NM_018139.3(DNAAF2):c.1194A>C (p.Gly398=)	DNAAF2, LOC130055542	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1744938	NM_018139.3(DNAAF2):c.1191C>G (p.Asp397Glu)	DNAAF2, LOC130055542 (D397E)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 95891	NM_018139.3(DNAAF2):c.1185G>C (p.Ala395=)	DNAAF2, LOC130055542	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 10 +3 more	GBenign
Select item 1514475	NM_018139.3(DNAAF2):c.1183G>A (p.Ala395Thr)	DNAAF2, LOC130055542 (A395T)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3020121	NM_018139.3(DNAAF2):c.1176G>A (p.Arg392=)	DNAAF2, LOC130055542	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2881010	NM_018139.3(DNAAF2):c.1166dup (p.Pro390fs)	DNAAF2, LOC130055542 (P390fs)	Duplication (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 1373304	NM_018139.3(DNAAF2):c.1166G>A (p.Gly389Glu)	DNAAF2, LOC130055542 (G389E)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 411172	NM_018139.3(DNAAF2):c.1156_1159dup (p.Glu387fs)	DNAAF2, LOC130055542 (E387fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 1736174	NM_018139.3(DNAAF2):c.1159G>T (p.Glu387Ter)	DNAAF2, LOC130055542 (E387*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 884212	NM_018139.3(DNAAF2):c.1147G>A (p.Ala383Thr)	DNAAF2, LOC130055542 (A383T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 10	GUncertain significance
Select item 1731617	NM_018139.3(DNAAF2):c.1142C>T (p.Ala381Val)	DNAAF2, LOC130055542 (A381V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 880923	NM_018139.3(DNAAF2):c.1136C>G (p.Ala379Gly)	DNAAF2, LOC130055542 (A379G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 10	GUncertain significance
Select item 1518062	NM_018139.3(DNAAF2):c.1131C>T (p.Gly377=)	DNAAF2, LOC130055542	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1043839	NM_018139.3(DNAAF2):c.1130G>T (p.Gly377Val)	DNAAF2, LOC130055542 (G377V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 411170	NM_018139.3(DNAAF2):c.1129G>C (p.Gly377Arg)	DNAAF2, LOC130055542 (G377R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 642500	NM_018139.3(DNAAF2):c.1128C>G (p.Asp376Glu)	DNAAF2, LOC130055542 (D376E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1624975	NM_018139.3(DNAAF2):c.1122A>G (p.Gly374=)	DNAAF2, LOC130055542	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 313281	NM_018139.3(DNAAF2):c.1120G>C (p.Gly374Arg)	DNAAF2, LOC130055542 (G374R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 2428675	NM_018139.3(DNAAF2):c.1119C>T (p.Ser373=)	DNAAF2, LOC130055542	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 700951	NM_018139.3(DNAAF2):c.1116G>C (p.Arg372=)	DNAAF2, LOC130055542	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 289271	NM_018139.3(DNAAF2):c.1115G>A (p.Arg372Gln)	DNAAF2, LOC130055542 (R372Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 880924	NM_018139.3(DNAAF2):c.1114C>G (p.Arg372Gly)	DNAAF2, LOC130055542 (R372G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 10	GUncertain significance
Select item 1795648	NM_018139.3(DNAAF2):c.1113C>T (p.Asp371=)	DNAAF2, LOC130055542	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 261008	NM_018139.3(DNAAF2):c.1110G>A (p.Ala370=)	LOC130055542, DNAAF2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3023783	NM_018139.3(DNAAF2):c.1069_1102dup (p.Glu368fs)	DNAAF2, LOC130055542 (E368fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 1390631	NM_018139.3(DNAAF2):c.1102G>A (p.Glu368Lys)	DNAAF2, LOC130055542 (E368K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 454897	NM_018139.3(DNAAF2):c.1083CGC[6] (p.Ala364_Ala365dup)	DNAAF2, LOC130055542	Microsatellite (inframe_insertion)	Primary ciliary dyskinesia	GUncertain significance
Select item 3366178	NM_018139.3(DNAAF2):c.1083CGC[2] (p.Ala364_Ala365del)	DNAAF2, LOC130055542	Microsatellite	not provided	GUncertain significance
Select item 572785	NM_018139.3(DNAAF2):c.1083CGC[3] (p.Ala365del)	DNAAF2, LOC130055542 (A365del)	Microsatellite (inframe_deletion)	Primary ciliary dyskinesia	GUncertain significance
Select item 569313	NM_018139.3(DNAAF2):c.1076TCGCCG[3] (p.359VA[3])	DNAAF2, LOC130055542	Microsatellite (inframe_insertion)	Primary ciliary dyskinesia 10 +1 more	GUncertain significance
Select item 2442010	NM_018139.3(DNAAF2):c.1054_1087del (p.Ala352fs)	DNAAF2, LOC130055542 (A352fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 10	GPathogenic
Select item 517620	NM_018139.3(DNAAF2):c.1077C>G (p.Val359=)	DNAAF2, LOC130055542	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GBenign

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Items: 67