ClinVar for Gene (Select 6674) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3354190	NM_003114.5(SPAG1):c.802G>A (p.Val268Ile)	SPAG1 (V268I)	Single nucleotide variant (missense variant)	SPAG1-related disorder	GUncertain significance
Select item 3321747	NM_003114.5(SPAG1):c.724G>C (p.Val242Leu)	SPAG1 (V242L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3321746	NM_003114.5(SPAG1):c.2420A>G (p.Tyr807Cys)	SPAG1 (Y807C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3321745	NM_003114.5(SPAG1):c.2620T>A (p.Leu874Ile)	SPAG1 (L874I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3321744	NM_003114.5(SPAG1):c.2674G>C (p.Gly892Arg)	SPAG1 (G892R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3321743	NM_003114.5(SPAG1):c.1014G>T (p.Arg338Ser)	SPAG1 (R338S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
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 3245531	NC_000008.10:g.(?_101194532)_(101196884_?)del	SPAG1	Deletion	Primary ciliary dyskinesia 28	GPathogenic
Select item 3245530	NC_000008.10:g.(?_101232487)_(101237587_?)dup	SPAG1	Duplication	Primary ciliary dyskinesia 28	GLikely pathogenic
Select item 3245529	NC_000008.10:g.(?_101251448)_(101253250_?)del	SPAG1	Deletion	Primary ciliary dyskinesia 28	GPathogenic
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 3168000	NM_003114.5(SPAG1):c.2771A>G (p.Tyr924Cys)	SPAG1 (Y924C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3167999	NM_003114.5(SPAG1):c.2459A>C (p.Lys820Thr)	SPAG1 (K820T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3167998	NM_003114.5(SPAG1):c.2152A>G (p.Ile718Val)	SPAG1 (I718V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3167997	NM_003114.5(SPAG1):c.1462A>T (p.Ile488Phe)	SPAG1 (I488F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3167996	NM_003114.5(SPAG1):c.1411G>T (p.Ala471Ser)	LOC130000832, SPAG1 (A471S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3065659	NM_003114.5(SPAG1):c.2561_2564del (p.Ile854fs)	SPAG1 (I854fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 28	GLikely pathogenic
Select item 3063043	GRCh37/hg19 8q22.2(chr8:100709537-101192245)x3	COX6C, FBXO43 +4 more	Copy number gain	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3042815	NM_003114.5(SPAG1):c.2112C>T (p.Leu704=)	SPAG1	Single nucleotide variant (synonymous variant)	SPAG1-related disorder	GLikely benign
Select item 3034335	NM_003114.5(SPAG1):c.1747A>G (p.Ile583Val)	SPAG1 (I583V)	Single nucleotide variant (missense variant)	SPAG1-related disorder	GLikely benign
Select item 3014293	NM_003114.5(SPAG1):c.740A>G (p.Asn247Ser)	SPAG1 (N247S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 28	GUncertain significance
Select item 2988466	NM_003114.5(SPAG1):c.1342C>T (p.Leu448=)	SPAG1, LOC130000832	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 2986016	NM_003114.5(SPAG1):c.2283G>C (p.Val761=)	SPAG1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 2982672	NM_003114.5(SPAG1):c.1749T>A (p.Ile583=)	SPAG1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 2981525	NM_003114.5(SPAG1):c.1565A>C (p.Lys522Thr)	SPAG1 (K522T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 28	GUncertain significance
Select item 2981213	NM_003114.5(SPAG1):c.2224G>T (p.Asp742Tyr)	SPAG1 (D742Y)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 28	GUncertain significance
Select item 2974540	NM_003114.5(SPAG1):c.2281-12T>C	SPAG1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 2970035	NM_003114.5(SPAG1):c.1097-4A>G	SPAG1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 2969981	NM_003114.5(SPAG1):c.1855+8dup	SPAG1	Duplication (intron variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 2966792	NM_003114.5(SPAG1):c.1096+17A>G	SPAG1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 2954763	NM_003114.5(SPAG1):c.1687_1688del (p.Arg563fs)	SPAG1 (R563fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 28	GPathogenic
Select item 2919654	NM_003114.5(SPAG1):c.1856-10dup	SPAG1	Duplication (intron variant)	Primary ciliary dyskinesia 28	GBenign
Select item 2917998	NM_003114.5(SPAG1):c.427-3dup	SPAG1	Duplication (intron variant)	Primary ciliary dyskinesia 28	GBenign
Select item 2917953	NM_003114.5(SPAG1):c.1041C>T (p.Ser347=)	SPAG1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 2917501	NM_003114.5(SPAG1):c.1244_1253del (p.Asp415fs)	LOC130000832, SPAG1 (D415fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 28	GPathogenic
Select item 2917180	NM_003114.5(SPAG1):c.939+15T>C	SPAG1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 2915487	NM_003114.5(SPAG1):c.2367del (p.Ser789fs)	SPAG1 (S789fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 28	GPathogenic
Select item 2912354	NM_003114.5(SPAG1):c.1350C>G (p.Ser450Arg)	LOC130000832, SPAG1 (S450R)	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 2909646	NM_003114.5(SPAG1):c.1332C>A (p.Asn444Lys)	LOC130000832, SPAG1 (N444K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 28	GUncertain significance
Select item 2909308	NM_003114.5(SPAG1):c.1097-8C>T	SPAG1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 28	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 2892851	NM_003114.5(SPAG1):c.489-7A>G	SPAG1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 2890855	NM_003114.5(SPAG1):c.2650-6T>A	SPAG1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 2888902	NM_003114.5(SPAG1):c.1299C>T (p.Thr433=)	LOC130000832, SPAG1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 2887567	NM_003114.5(SPAG1):c.2661A>C (p.Thr887=)	SPAG1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 2886503	NM_003114.5(SPAG1):c.2766G>A (p.Arg922=)	SPAG1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 2885438	NM_003114.5(SPAG1):c.939+8T>C	SPAG1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 28	GLikely benign
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 2857556	NM_003114.5(SPAG1):c.1314C>T (p.Gly438=)	LOC130000832, SPAG1 +1 more	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +1 more	GLikely benign
Select item 2847826	NM_003114.5(SPAG1):c.1989-11C>T	SPAG1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 2843150	NM_003114.5(SPAG1):c.1212G>A (p.Pro404=)	LOC130000832, SPAG1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 2838935	NM_003114.5(SPAG1):c.1535+19G>C	SPAG1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 28	GLikely benign
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 2835426	NM_003114.5(SPAG1):c.2133A>C (p.Leu711Phe)	SPAG1 (L711F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 28	GUncertain significance
Select item 2832645	NM_003114.5(SPAG1):c.1942G>A (p.Glu648Lys)	SPAG1 (E648K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 28	GBenign
Select item 2827030	NM_003114.5(SPAG1):c.1419G>T (p.Ala473=)	LOC130000832, SPAG1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 2826392	NM_003114.5(SPAG1):c.1257A>C (p.Pro419=)	LOC130000832, SPAG1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 2821959	NM_003114.5(SPAG1):c.1689-10T>C	SPAG1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 2815135	NM_003114.5(SPAG1):c.1435+2T>C	LOC130000832, SPAG1	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia 28	GLikely pathogenic
Select item 2813473	NM_003114.5(SPAG1):c.2079C>G (p.Ala693=)	SPAG1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 2810101	NM_003114.5(SPAG1):c.2116-8A>G	SPAG1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 2806982	NM_003114.5(SPAG1):c.801G>T (p.Lys267Asn)	SPAG1 (K267N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 28	GUncertain significance
Select item 2797202	NM_003114.5(SPAG1):c.1374C>T (p.Ser458=)	LOC130000832, SPAG1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 2795426	NM_003114.5(SPAG1):c.1386C>G (p.Ala462=)	LOC130000832, SPAG1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 2795412	NM_003114.5(SPAG1):c.940-19T>C	SPAG1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 28	GLikely benign
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 2788572	NM_003114.5(SPAG1):c.1115G>A (p.Gly372Glu)	SPAG1 (G372E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 28	GUncertain significance
Select item 2781892	NM_003114.5(SPAG1):c.1353G>A (p.Gln451=)	LOC130000832, SPAG1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 28	GLikely benign
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 2777933	NM_003114.5(SPAG1):c.2070C>T (p.Asn690=)	SPAG1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 2772446	NM_003114.5(SPAG1):c.921T>C (p.Pro307=)	SPAG1	Single nucleotide variant (synonymous 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 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 2739015	NM_003114.5(SPAG1):c.1311C>A (p.Gly437=)	LOC130000832, SPAG1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 2738270	NM_003114.5(SPAG1):c.1155C>T (p.Ile385=)	SPAG1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 28	GLikely benign
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 2729249	NM_003114.5(SPAG1):c.1692A>G (p.Leu564=)	SPAG1	Single nucleotide variant (synonymous 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 2727442	NM_003114.5(SPAG1):c.2478A>T (p.Ala826=)	SPAG1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 2722888	NM_003114.5(SPAG1):c.1476T>C (p.Asn492=)	SPAG1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 2722439	NM_003114.5(SPAG1):c.1131C>T (p.Ala377=)	SPAG1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 2719831	NM_003114.5(SPAG1):c.1364T>G (p.Leu455Arg)	LOC130000832, SPAG1 (L455R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 28	GUncertain significance
Select item 2718523	NM_003114.5(SPAG1):c.1435+14G>T	LOC130000832, SPAG1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 2717764	NM_003114.5(SPAG1):c.1435+17C>T	SPAG1, LOC130000832	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 2717584	NM_003114.5(SPAG1):c.1988+19T>A	SPAG1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 28	GLikely benign
Select item 2713265	NM_003114.5(SPAG1):c.595+15AAT[2]	SPAG1	Microsatellite (intron variant)	Primary ciliary dyskinesia 28	GLikely benign
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 2685318	GRCh37/hg19 8q22.2-22.3(chr8:100446969-102315070)x1	ANKRD46, COX6C +10 more	Copy number loss	not provided	GUncertain significance
Select item 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
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 2614225	NM_003114.5(SPAG1):c.1870A>G (p.Lys624Glu)	SPAG1 (K624E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2601198	NM_003114.5(SPAG1):c.1898G>A (p.Cys633Tyr)	SPAG1 (C633Y)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2585624	NM_003114.5(SPAG1):c.2634dup (p.Ala879fs)	SPAG1 (A879fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia 28	GUncertain significance
Select item 2561544	NM_003114.5(SPAG1):c.1863A>C (p.Lys621Asn)	SPAG1 (K621N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2551243	NM_003114.5(SPAG1):c.2314G>T (p.Ala772Ser)	SPAG1 (A772S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2542030	NM_003114.5(SPAG1):c.851C>T (p.Thr284Ile)	SPAG1 (T284I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
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 2498026	NM_003114.5(SPAG1):c.2585T>C (p.Ile862Thr)	SPAG1 (I862T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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