SPAG1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1241493	NM_003114.5(SPAG1):c.-2-321A>C	SPAG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196738	NM_003114.5(SPAG1):c.-2-119C>T	SPAG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248919	NM_003114.5(SPAG1):c.-2-81G>A	SPAG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 474645	NC_000008.11:g.(?_100162261)_(100162440_?)del	SPAG1	Deletion	Primary ciliary dyskinesia 28	GPathogenic
Select item 417543	NC_000008.11:g.(?_100162279)_(100162420_?)del	SPAG1	Deletion	Primary ciliary dyskinesia 28	GPathogenic
Select item 88680	NM_003114.5(SPAG1):c.2T>G (p.Met1Arg)	SPAG1 (M1R)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 28	GPathogenic
Select item 2106212	NM_003114.5(SPAG1):c.16T>C (p.Tyr6His)	SPAG1 (Y6H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 28	GUncertain significance
Select item 1765028	NM_003114.5(SPAG1):c.88A>G (p.Ile30Val)	SPAG1 (I30V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 28 +1 more	GUncertain significance
Select item 861165	NM_003114.5(SPAG1):c.89T>C (p.Ile30Thr)	SPAG1 (I30T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 28	GUncertain significance
Select item 2617314	NM_003114.5(SPAG1):c.103G>A (p.Asp35Asn)	SPAG1 (D35N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 658911	NM_003114.5(SPAG1):c.105T>G (p.Asp35Glu)	SPAG1 (D35E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 28	GUncertain significance
Select item 2163612	NM_003114.5(SPAG1):c.126T>G (p.Ile42Met)	SPAG1 (I42M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 28	GUncertain significance
Select item 474652	NM_003114.5(SPAG1):c.132C>T (p.Cys44=)	SPAG1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 28 +1 more	GLikely benign
Select item 1426706	NM_003114.5(SPAG1):c.133G>A (p.Val45Met)	SPAG1 (V45M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 28 +1 more	GUncertain significance
Select item 410992	NM_003114.5(SPAG1):c.140+1G>A	SPAG1	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia 28	GLikely pathogenic
Select item 1181021	NM_003114.5(SPAG1):c.140+295C>T	SPAG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239077	NM_003114.5(SPAG1):c.141-285C>A	SPAG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259217	NM_003114.5(SPAG1):c.141-276C>T	SPAG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212647	NM_003114.5(SPAG1):c.141-207C>T	SPAG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300843	NM_003114.5(SPAG1):c.141-48G>T	SPAG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1593275	NM_003114.5(SPAG1):c.141-16T>C	SPAG1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 474653	NM_003114.5(SPAG1):c.141A>T (p.Arg47Ser)	SPAG1 (R47S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 28 +1 more	GUncertain significance
Select item 663863	NM_003114.5(SPAG1):c.146G>A (p.Gly49Asp)	SPAG1 (G49D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 28	GUncertain significance
Select item 242014	NM_003114.5(SPAG1):c.205G>A (p.Ala69Thr)	SPAG1 (A69T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 977585	NM_003114.5(SPAG1):c.208C>G (p.Pro70Ala)	SPAG1 (P70A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 2102695	NM_003114.5(SPAG1):c.237dup (p.Pro80fs)	SPAG1 (P80fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia 28	GPathogenic
Select item 959785	NM_003114.5(SPAG1):c.239C>T (p.Pro80Leu)	SPAG1 (P80L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 28	GUncertain significance
Select item 2879849	NM_003114.5(SPAG1):c.258T>C (p.Ser86=)	SPAG1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 1797287	NM_003114.5(SPAG1):c.288T>C (p.Asp96=)	SPAG1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1348064	NM_003114.5(SPAG1):c.290G>A (p.Gly97Asp)	SPAG1 (G97D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 28 +1 more	GConflicting classifications of pathogenicity
Select item 1797800	NM_003114.5(SPAG1):c.292G>T (p.Asp98Tyr)	SPAG1 (D98Y)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1926088	NM_003114.5(SPAG1):c.295A>G (p.Ile99Val)	SPAG1 (I99V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 28	GUncertain significance
Select item 1297845	NM_003114.5(SPAG1):c.300+204A>G	SPAG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211812	NM_003114.5(SPAG1):c.300+303dup	SPAG1	Duplication (intron variant)	not provided	GLikely benign
Select item 1120362	NM_003114.5(SPAG1):c.301-10C>T	SPAG1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 1798819	NM_003114.5(SPAG1):c.301-2A>G	SPAG1	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 474661	NM_003114.5(SPAG1):c.311C>A (p.Ser104Ter)	SPAG1 (S104*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 28	GPathogenic
Select item 1929731	NM_003114.5(SPAG1):c.324dup (p.Glu109fs)	SPAG1 (E109fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia 28	GPathogenic
Select item 410980	NM_003114.5(SPAG1):c.319A>T (p.Lys107Ter)	SPAG1 (K107*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 28	GPathogenic
Select item 1476551	NM_003114.5(SPAG1):c.324AGA[2] (p.Glu110del)	SPAG1 (E110del)	Microsatellite (inframe_deletion)	Primary ciliary dyskinesia 28	GUncertain significance
Select item 411002	NM_003114.5(SPAG1):c.325_326del (p.Glu109fs)	SPAG1 (E109fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 28	GPathogenic
Select item 1461466	NM_003114.5(SPAG1):c.395G>A (p.Arg132His)	SPAG1 (R132H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 697238	NM_003114.5(SPAG1):c.398G>A (p.Gly133Asp)	SPAG1 (G133D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GLikely benign
Select item 2317457	NM_003114.5(SPAG1):c.401C>T (p.Ser134Leu)	SPAG1 (S134L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 977561	NM_003114.5(SPAG1):c.401C>G (p.Ser134Ter)	SPAG1 (S134*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 541535	NM_003114.5(SPAG1):c.413T>C (p.Leu138Pro)	SPAG1 (L138P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GConflicting classifications of pathogenicity
Select item 541530	NM_003114.5(SPAG1):c.419T>C (p.Val140Ala)	SPAG1 (V140A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 28	GUncertain significance
Select item 582407	NM_003114.5(SPAG1):c.422G>A (p.Gly141Asp)	SPAG1 (G141D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 28 +1 more	GUncertain significance
Select item 662557	NM_003114.5(SPAG1):c.427-1065_630del	SPAG1	Deletion (splice acceptor variant +1 more)	Primary ciliary dyskinesia 28	GPathogenic
Select item 1279521	NM_003114.5(SPAG1):c.427-297A>G	SPAG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262429	NM_003114.5(SPAG1):c.427-16G>T	SPAG1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2145808	NM_003114.5(SPAG1):c.427-15A>G	SPAG1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 1599869	NM_003114.5(SPAG1):c.427-11del	SPAG1	Deletion (intron variant)	Primary ciliary dyskinesia 28	GBenign
Select item 2695235	NM_003114.5(SPAG1):c.427-11T>C	SPAG1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 2771390	NM_003114.5(SPAG1):c.427-8T>A	SPAG1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 2917998	NM_003114.5(SPAG1):c.427-3dup	SPAG1	Duplication (intron variant)	Primary ciliary dyskinesia 28	GBenign
Select item 474662	NM_003114.5(SPAG1):c.427-3T>C	SPAG1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 28	GUncertain significance
Select item 416526	NM_003114.5(SPAG1):c.474C>T (p.Tyr158=)	SPAG1	Single nucleotide variant (synonymous variant)	SPAG1-related disorder +1 more	GBenign/Likely benign
Select item 1742889	NM_003114.5(SPAG1):c.475G>A (p.Ala159Thr)	SPAG1 (A159T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 474663	NM_003114.5(SPAG1):c.476C>T (p.Ala159Val)	SPAG1 (A159V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 28	GUncertain significance
Select item 2053303	NM_003114.5(SPAG1):c.477G>A (p.Ala159=)	SPAG1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 1474986	NM_003114.5(SPAG1):c.488+1G>A	SPAG1	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia 28	GLikely pathogenic
Select item 2064179	NM_003114.5(SPAG1):c.488+9del	SPAG1	Deletion (intron variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 2728417	NM_003114.5(SPAG1):c.488+13dup	SPAG1	Duplication (intron variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 1485091	NM_003114.5(SPAG1):c.488+19T>C	SPAG1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 1178274	NM_003114.5(SPAG1):c.489-106_489-102del	SPAG1	Deletion (intron variant)	not provided	GBenign
Select item 1271697	NM_003114.5(SPAG1):c.489-96_489-90del	SPAG1	Deletion (intron variant)	not provided	GBenign
Select item 2892851	NM_003114.5(SPAG1):c.489-7A>G	SPAG1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 700614	NM_003114.5(SPAG1):c.489-7A>T	SPAG1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 3229285	NM_003114.5(SPAG1):c.495C>T (p.Asp165=)	SPAG1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 934117	NM_003114.5(SPAG1):c.496G>A (p.Val166Met)	SPAG1 (V166M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 2778324	NM_003114.5(SPAG1):c.513A>C (p.Leu171Phe)	SPAG1 (L171F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 28	GUncertain significance
Select item 2254547	NM_003114.5(SPAG1):c.518T>C (p.Ile173Thr)	SPAG1 (I173T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1621375	NM_003114.5(SPAG1):c.519T>C (p.Ile173=)	SPAG1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 572754	NM_003114.5(SPAG1):c.520G>A (p.Asp174Asn)	SPAG1 (D174N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 28	GUncertain significance
Select item 2750118	NM_003114.5(SPAG1):c.542C>T (p.Thr181Met)	SPAG1 (T181M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 28	GUncertain significance
Select item 2911609	NM_003114.5(SPAG1):c.543G>A (p.Thr181=)	SPAG1	Single nucleotide variant (synonymous variant)	SPAG1-related disorder +1 more	GLikely benign
Select item 1000678	NM_003114.5(SPAG1):c.547A>G (p.Ile183Val)	SPAG1 (I183V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 28	GUncertain significance
Select item 1462644	NM_003114.5(SPAG1):c.548T>C (p.Ile183Thr)	SPAG1 (I183T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 28	GUncertain significance
Select item 1070816	NM_003114.5(SPAG1):c.557del (p.Ser186fs)	SPAG1 (S186fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 28	GPathogenic
Select item 541533	NM_003114.5(SPAG1):c.560A>C (p.His187Pro)	SPAG1 (H187P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 2791927	NM_003114.5(SPAG1):c.595+1G>A	SPAG1	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia 28	GPathogenic
Select item 2713265	NM_003114.5(SPAG1):c.595+15AAT[2]	SPAG1	Microsatellite (intron variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 1297846	NM_003114.5(SPAG1):c.596-32G>A	SPAG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 416529	NM_003114.5(SPAG1):c.596G>C (p.Gly199Ala)	SPAG1 (G199A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GBenign
Select item 934361	NM_003114.5(SPAG1):c.600_603del (p.Thr201fs)	SPAG1 (T201fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 28	GPathogenic
Select item 3321742	NM_003114.5(SPAG1):c.631C>T (p.Arg211Cys)	SPAG1 (R211C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2495484	NM_003114.5(SPAG1):c.632G>A (p.Arg211His)	SPAG1 (R211H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 242016	NM_003114.5(SPAG1):c.639G>A (p.Lys213=)	SPAG1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2905131	NM_003114.5(SPAG1):c.645A>G (p.Lys215=)	SPAG1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 474664	NM_003114.5(SPAG1):c.648A>C (p.Gly216=)	SPAG1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 2504235	NM_003114.5(SPAG1):c.655G>C (p.Ala219Pro)	SPAG1 (A219P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 845083	NM_003114.5(SPAG1):c.662A>G (p.Asn221Ser)	SPAG1 (N221S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 416524	NM_003114.5(SPAG1):c.669A>G (p.Gly223=)	SPAG1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +2 more	GBenign
Select item 2734663	NM_003114.5(SPAG1):c.672T>C (p.Asp224=)	SPAG1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 88682	NM_003114.5(SPAG1):c.679G>T (p.Glu227Ter)	SPAG1 (E227*)	Single nucleotide variant (nonsense)	Autosomal dominant nocturnal frontal lobe epilepsy 5	GPathogenic
Select item 2837391	NM_003114.5(SPAG1):c.701+10T>A	SPAG1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 1635550	NM_003114.5(SPAG1):c.701+18G>A	SPAG1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 28	GBenign
Select item 1228342	NM_003114.5(SPAG1):c.702-319G>A	SPAG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 666216	NC_000008.11:g.(?_100187100)_(100187270_?)del	SPAG1	Deletion	Primary ciliary dyskinesia 28	GPathogenic

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