"GeneDx"[submitter] AND "SPAG1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 1297846	NM_003114.5(SPAG1):c.596-32G>A	SPAG1	Single nucleotide variant (intron variant)	not provided	GBenign
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 416524	NM_003114.5(SPAG1):c.669A>G (p.Gly223=)	SPAG1	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia +2 more	GBenign
Select item 1228342	NM_003114.5(SPAG1):c.702-319G>A	SPAG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 474667	NM_003114.5(SPAG1):c.877C>T (p.Arg293Trp)	SPAG1 (R293W)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 445743	NM_003114.5(SPAG1):c.897_901del (p.Lys301fs)	SPAG1 (K301fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 28 +1 more	GPathogenic/Likely pathogenic
Select item 262804	NM_003114.5(SPAG1):c.939+13T>C	SPAG1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1268157	NM_003114.5(SPAG1):c.939+330T>C	SPAG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221837	NM_003114.5(SPAG1):c.940-185C>T	SPAG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280227	NM_003114.5(SPAG1):c.940-165T>G	SPAG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283730	NM_003114.5(SPAG1):c.940-114dup	SPAG1	Duplication (intron variant)	not provided	GBenign
Select item 262805	NM_003114.5(SPAG1):c.991G>A (p.Glu331Lys)	SPAG1 (E331K)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 221008	NM_003114.5(SPAG1):c.1059_1060insGAC (p.Lys353_Ser354insAsp)	SPAG1	Insertion (inframe_insertion)	not specified +3 more	GBenign
Select item 1221836	NM_003114.5(SPAG1):c.1096+35G>A	SPAG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706744	NM_003114.5(SPAG1):c.1096+75C>T	SPAG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1289843	NM_003114.5(SPAG1):c.1096+272A>G	SPAG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262690	NM_003114.5(SPAG1):c.1097-192del	LOC130000831, SPAG1	Deletion (intron variant)	not provided	GBenign
Select item 1191107	NM_003114.5(SPAG1):c.1097-101A>G	LOC130000831, SPAG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260093	NM_003114.5(SPAG1):c.1097-76CCGCGGCCT[3]	LOC130000831, SPAG1	Microsatellite (intron variant)	not provided	GBenign
Select item 1254058	NM_003114.5(SPAG1):c.1097-76CCGCGGCCT[4]	LOC130000831, SPAG1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1239597	NM_003114.5(SPAG1):c.1097-60_1097-52del	LOC130000831, SPAG1	Microsatellite (intron variant)	not provided	GBenign
Select item 262800	NM_003114.5(SPAG1):c.1097-20C>T	LOC130000831, SPAG1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 2179139	NM_003114.5(SPAG1):c.1097-11C>G	SPAG1	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic
Select item 1458124	NM_003114.5(SPAG1):c.1285_1294dup (p.Ala432fs)	SPAG1, LOC130000832 (A432fs)	Microsatellite (frameshift variant)	Primary ciliary dyskinesia 28 +1 more	GConflicting classifications of pathogenicity
Select item 262801	NM_003114.5(SPAG1):c.1338C>G (p.Ala446=)	LOC130000832, SPAG1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 242012	NM_003114.5(SPAG1):c.1414A>G (p.Ile472Val)	LOC130000832, SPAG1 (I472V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +2 more	GBenign/Likely benign
Select item 1277222	NM_003114.5(SPAG1):c.1435+52C>A	LOC130000832, SPAG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248505	NM_003114.5(SPAG1):c.1435+182C>G	SPAG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235940	NM_003114.5(SPAG1):c.1436-153G>A	SPAG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205519	NM_003114.5(SPAG1):c.1436-37T>A	SPAG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179388	NM_003114.5(SPAG1):c.1536-108G>A	SPAG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 416531	NM_003114.5(SPAG1):c.1536-9C>G	SPAG1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1242999	NM_003114.5(SPAG1):c.1688+42T>C	SPAG1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 28 +1 more	GBenign
Select item 1208655	NM_003114.5(SPAG1):c.1688+118G>A	SPAG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190054	NM_003114.5(SPAG1):c.1688+128T>A	SPAG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288707	NM_003114.5(SPAG1):c.1689-289T>G	SPAG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290010	NM_003114.5(SPAG1):c.1855+177C>T	SPAG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200631	NM_003114.5(SPAG1):c.1856-118C>T	SPAG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1707214	NM_003114.5(SPAG1):c.1856-51A>T	SPAG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1285948	NM_003114.5(SPAG1):c.1856-37A>G	SPAG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1010513	NM_003114.5(SPAG1):c.1960A>G (p.Asn654Asp)	SPAG1 (N654D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 28 +1 more	GUncertain significance
Select item 1288233	NM_003114.5(SPAG1):c.1988+63_1988+64del	SPAG1	Deletion (intron variant)	not provided	GBenign
Select item 1707297	NM_003114.5(SPAG1):c.1988+170C>T	SPAG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260394	NM_003114.5(SPAG1):c.1988+177G>A	SPAG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188229	NM_003114.5(SPAG1):c.1988+209C>T	SPAG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200152	NM_003114.5(SPAG1):c.1989-72C>G	SPAG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 88683	NM_003114.5(SPAG1):c.2014C>T (p.Gln672Ter)	SPAG1 (Q672*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 28 +2 more	GPathogenic/Likely pathogenic
Select item 1188647	NM_003114.5(SPAG1):c.2089C>T (p.Arg697Ter)	SPAG1 (R697*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 28 +1 more	GPathogenic
Select item 1192042	NM_003114.5(SPAG1):c.2116-102C>A	SPAG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706737	NM_003114.5(SPAG1):c.2116-44C>T	SPAG1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231158	NM_003114.5(SPAG1):c.2281-169C>T	SPAG1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2498026	NM_003114.5(SPAG1):c.2585T>C (p.Ile862Thr)	SPAG1 (I862T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 262803	NM_003114.5(SPAG1):c.2715G>A (p.Ser905=)	SPAG1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1707168	NM_003114.5(SPAG1):c.*124C>G	SPAG1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1269852	NM_003114.5(SPAG1):c.*219T>C	SPAG1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 70