SPAG1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 148247	GRCh38/hg38 8q22.2-22.3(chr8:99580206-101547228)x1	LOC130000846, LOC130000847 +96 more	Copy number loss	See cases	GLikely pathogenic
Select item 57124	GRCh38/hg38 8q22.2-22.3(chr8:100023254-101190270)x3	ANKRD46, FBXO43 +77 more	Copy number gain	See cases	GPathogenic
Select item 88681	NC_000008.11:g.100151617_100163589del	LOC130000829, LOC130000830 +2 more	Deletion	Primary ciliary dyskinesia 28 +1 more	GPathogenic
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 28 +1 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 416527	NM_003114.5(SPAG1):c.301-8A>G	VPS13B, SPAG1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 28 +1 more	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 +1 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 +1 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)	Inborn genetic diseases +1 more	GUncertain significance
Select item 153234	GRCh38/hg38 8q22.2-23.1(chr8:100179408-106524667)x1	ANKRD46, ATP6V1C1 +234 more	Copy number loss	See cases	GPathogenic
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)	Primary ciliary dyskinesia 28	GBenign
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 28 +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)	Primary ciliary dyskinesia 28	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

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