"GeneDx"[submitter] AND "SPG21"[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58573	GRCh38/hg38 15q22.31(chr15:64448836-65975439)x3	ANKDD1A, CILP +97 more	Copy number gain	See cases	GPathogenic
Select item 573515	NM_016630.7(SPG21):c.862A>G (p.Met288Val)	SPG21 (M288V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 215896	NM_016630.7(SPG21):c.846G>A (p.Ala282=)	SPG21	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 220662	NM_016630.7(SPG21):c.843C>T (p.Tyr281=)	SPG21	Single nucleotide variant (synonymous variant)	Mast syndrome +3 more	GBenign/Likely benign
Select item 1200442	NM_016630.7(SPG21):c.811-319G>A	SPG21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212151	NM_016630.7(SPG21):c.810+60A>C	SPG21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 372515	NM_016630.7(SPG21):c.736C>T (p.Arg246Ter)	SPG21 (R246* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1248515	NM_016630.7(SPG21):c.669+338=	SPG21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244977	NM_016630.7(SPG21):c.669+91=	SPG21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282206	NM_016630.7(SPG21):c.562-232=	SPG21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204721	NM_016630.7(SPG21):c.562-325_562-324del	SPG21	Deletion (intron variant)	not provided	GLikely benign
Select item 1276364	NM_016630.7(SPG21):c.562-325C>A	SPG21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247401	NM_016630.7(SPG21):c.562-326=	SPG21	Deletion (intron variant)	not provided	GBenign
Select item 1280034	NM_016630.7(SPG21):c.562-330A>C	SPG21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238449	NM_016630.7(SPG21):c.561+163=	SPG21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225589	NM_016630.7(SPG21):c.452+219dup	SPG21	Duplication (intron variant)	not provided	GBenign
Select item 837857	NM_016630.7(SPG21):c.452+2T>C	SPG21	Single nucleotide variant (splice donor variant)	Mast syndrome +2 more	GLikely pathogenic
Select item 415528	NM_016630.7(SPG21):c.318T>C (p.Phe106=)	SPG21	Single nucleotide variant (synonymous variant)	Mast syndrome +2 more	GBenign/Likely benign
Select item 1196868	NM_016630.7(SPG21):c.307-109G>A	SPG21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291804	NM_016630.7(SPG21):c.307-115C>T	SPG21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1306992	NM_016630.7(SPG21):c.233A>G (p.Tyr78Cys)	SPG21 (Y78C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1234188	NM_016630.7(SPG21):c.226-86G>C	SPG21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1328744	NM_016630.7(SPG21):c.226-110C>T	SPG21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 667515	NM_016630.7(SPG21):c.225+310G>T	SPG21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218073	NM_016630.7(SPG21):c.225+302G>A	SPG21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222665	NM_016630.7(SPG21):c.225+95TGTT[9]	SPG21	Microsatellite (intron variant)	not provided	GBenign
Select item 1208781	NM_016630.7(SPG21):c.225+95TGTT[10]	SPG21	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1295556	NM_016630.7(SPG21):c.225+95TGTT[7]	SPG21	Microsatellite (intron variant)	not provided	GBenign
Select item 1222872	NM_016630.7(SPG21):c.225+43T>G	SPG21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1030573	NM_016630.7(SPG21):c.141A>G (p.Ile47Met)	SPG21 (I47M)	Single nucleotide variant (missense variant)	Mast syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2442442	NM_016630.7(SPG21):c.115C>A (p.Pro39Thr)	SPG21 (P39T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 670117	NM_016630.7(SPG21):c.64-36A>G	SPG21	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1189964	NM_016630.7(SPG21):c.64-83T>C	SPG21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195112	NM_016630.7(SPG21):c.64-97C>T	SPG21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200175	NM_016630.7(SPG21):c.64-179T>C	SPG21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271649	NM_016630.7(SPG21):c.64-181C>T	SPG21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670116	NM_016630.7(SPG21):c.64-232C>T	SPG21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290807	NM_016630.7(SPG21):c.64-282dup	SPG21	Duplication (intron variant)	not provided	GBenign
Select item 1204587	NM_016630.7(SPG21):c.64-282_64-281dup	SPG21	Duplication (intron variant)	not provided	GLikely benign
Select item 1220430	NM_016630.7(SPG21):c.64-265del	SPG21	Deletion (intron variant)	not provided	GLikely benign
Select item 1274813	NM_016630.7(SPG21):c.63+300C>T	SPG21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295741	NM_016630.7(SPG21):c.63+216TTAT[6]	SPG21	Microsatellite (intron variant)	not provided	GBenign
Select item 1190196	NM_016630.7(SPG21):c.63+216TTAT[7]	SPG21	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1206555	NM_016630.7(SPG21):c.63+234A>T	SPG21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295916	NM_016630.7(SPG21):c.63+47T>G	SPG21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680411	NM_016630.7(SPG21):c.63+18A>G	SPG21	Single nucleotide variant (intron variant)	Mast syndrome +1 more	GLikely benign
Select item 1203335	NM_016630.7(SPG21):c.-24-87T>C	SPG21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193734	NM_016630.7(SPG21):c.-24-139G>T	SPG21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195624	NM_016630.7(SPG21):c.-24-208dup	SPG21	Duplication (intron variant)	not provided	GLikely benign
Select item 1526331	NM_016630.7(SPG21):c.-25+379T>C	SPG21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 316729	NM_016630.7(SPG21):c.-213C>T	SPG21	Single nucleotide variant (5 prime UTR variant)	Mast syndrome +1 more	GBenign
Select item 253982	GRCh37/hg19 15q22.31(chr15:64673133-65273595)x3	RBPMS2, ZNF609 +7 more	Copy number gain	See cases	GUncertain significance
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic

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Items: 53