ClinVar for Gene (Select 51324) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3571930	NM_016630.7(SPG21):c.47C>G (p.Thr16Arg)	SPG21 (T16R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3448446	NM_016630.7(SPG21):c.76G>C (p.Asp26His)	SPG21 (D26H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3448445	NM_016630.7(SPG21):c.182G>A (p.Arg61Gln)	SPG21 (R61Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3392161	GRCh37/hg19 15q22.31(chr15:64920533-66013473)x3	ANKDD1A, CILP +22 more	Copy number gain	not provided	GUncertain significance
Select item 3169001	NM_016630.7(SPG21):c.845C>T (p.Ala282Val)	SPG21 (A255V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169000	NM_016630.7(SPG21):c.630A>C (p.Glu210Asp)	SPG21 (E210D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068703	NM_016630.7(SPG21):c.50T>G (p.Val17Gly)	SPG21 (V17G)	Single nucleotide variant (missense variant)	Mast syndrome	GUncertain significance
Select item 3068663	NM_016630.7(SPG21):c.157A>G (p.Ser53Gly)	SPG21 (S53G)	Single nucleotide variant (missense variant)	Mast syndrome	GUncertain significance
Select item 3031834	NM_016630.7(SPG21):c.909C>T (p.Ile303=)	SPG21	Single nucleotide variant (synonymous variant)	SPG21-related disorder	GLikely benign
Select item 2841943	NM_016630.7(SPG21):c.64-19_64-15del	SPG21	Deletion (intron variant)	Mast syndrome	GLikely benign
Select item 2803129	NM_016630.7(SPG21):c.54C>T (p.Pro18=)	SPG21	Single nucleotide variant (synonymous variant)	Mast syndrome	GLikely benign
Select item 2796493	NM_016630.7(SPG21):c.145C>T (p.Leu49=)	SPG21	Single nucleotide variant (synonymous variant)	Mast syndrome	GLikely benign
Select item 2740840	NM_016630.7(SPG21):c.307-7T>C	SPG21	Single nucleotide variant (intron variant)	Mast syndrome	GLikely benign
Select item 2720153	NM_016630.7(SPG21):c.137_138del (p.Leu46fs)	SPG21 (L46fs)	Microsatellite (frameshift variant)	Mast syndrome	GPathogenic
Select item 2645449	NM_016630.7(SPG21):c.594A>G (p.Ser198=)	SPG21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2579722	NM_016630.7(SPG21):c.364A>G (p.Thr122Ala)	SPG21 (T122A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578742	NM_016630.7(SPG21):c.306+6T>A	SPG21	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2514575	NM_016630.7(SPG21):c.643C>T (p.Arg215Trp)	SPG21 (R188W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2500987	NM_016630.7(SPG21):c.118del (p.Arg40fs)	SPG21 (R40fs)	Deletion (frameshift variant)	Mast syndrome	GPathogenic
Select item 2488881	NM_016630.7(SPG21):c.11T>C (p.Ile4Thr)	SPG21 (I4T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2314281	NM_016630.7(SPG21):c.871G>A (p.Ala291Thr)	SPG21 (A291T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245977	NM_016630.7(SPG21):c.740G>A (p.Arg247Lys)	SPG21 (R220K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2197476	NM_016630.7(SPG21):c.357T>C (p.Ala119=)	SPG21	Single nucleotide variant (synonymous variant)	Mast syndrome	GLikely benign
Select item 2164522	NM_016630.7(SPG21):c.509C>T (p.Ser170Phe)	SPG21 (S143F +1 more)	Single nucleotide variant (missense variant)	Mast syndrome	GUncertain significance
Select item 2095779	NM_016630.7(SPG21):c.479T>C (p.Leu160Pro)	SPG21 (L160P +1 more)	Single nucleotide variant (missense variant)	Mast syndrome	GUncertain significance
Select item 2049852	NM_016630.7(SPG21):c.222C>T (p.Ile74=)	SPG21	Single nucleotide variant (synonymous variant)	Mast syndrome	GLikely benign
Select item 2049107	NM_016630.7(SPG21):c.844G>A (p.Ala282Thr)	SPG21 (A255T +1 more)	Single nucleotide variant (missense variant)	Mast syndrome	GUncertain significance
Select item 1956378	NM_016630.7(SPG21):c.702T>C (p.Ala234=)	SPG21	Single nucleotide variant (synonymous variant)	Mast syndrome	GLikely benign
Select item 1925006	NM_016630.7(SPG21):c.810+4A>C	SPG21	Single nucleotide variant (intron variant)	Mast syndrome	GUncertain significance
Select item 1924119	NM_016630.7(SPG21):c.99G>T (p.Ser33=)	SPG21	Single nucleotide variant (synonymous variant)	Mast syndrome	GLikely benign
Select item 1805260	NM_016630.7(SPG21):c.226-1G>A	SPG21	Single nucleotide variant (intron variant +1 more)	Mast syndrome	GLikely pathogenic
Select item 1596443	NM_016630.7(SPG21):c.810+12C>T	SPG21	Single nucleotide variant (intron variant)	Mast syndrome	GLikely benign
Select item 1596104	NM_016630.7(SPG21):c.390C>T (p.Ser130=)	SPG21	Single nucleotide variant (synonymous variant)	Mast syndrome	GLikely benign
Select item 1526465	GRCh37/hg19 15q22.31(chr15:64978681-65679053)	ANKDD1A, CILP +16 more	Copy number gain	not specified	GUncertain significance
Select item 1526331	NM_016630.7(SPG21):c.-25+379T>C	SPG21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1506275	NM_016630.7(SPG21):c.102C>G (p.Leu34=)	SPG21	Single nucleotide variant (synonymous variant)	Mast syndrome	GUncertain significance
Select item 1471542	NC_000015.9:g.(?_65255951)_(65370540_?)del	KBTBD13, MTFMT +3 more	Deletion	Nemaline myopathy 6	GUncertain significance
Select item 1416990	NM_016630.7(SPG21):c.367C>T (p.His123Tyr)	SPG21 (H96Y +1 more)	Single nucleotide variant (missense variant)	Mast syndrome	GUncertain significance
Select item 1411087	NM_016630.7(SPG21):c.810+3A>G	SPG21	Single nucleotide variant (intron variant)	Mast syndrome +1 more	GUncertain significance
Select item 1406982	NM_016630.7(SPG21):c.204A>G (p.Gly68=)	SPG21	Single nucleotide variant (synonymous variant)	Mast syndrome	GLikely benign
Select item 1397004	NM_016630.7(SPG21):c.569G>A (p.Ser190Asn)	SPG21 (S190N +1 more)	Single nucleotide variant (missense variant)	Mast syndrome	GUncertain significance
Select item 1344122	NM_016630.7(SPG21):c.820C>A (p.Leu274Met)	SPG21 (L247M +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344121	NM_016630.7(SPG21):c.819G>T (p.Leu273Phe)	SPG21 (L246F +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344120	NM_016630.7(SPG21):c.814C>A (p.His272Asn)	SPG21 (H245N +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344119	NM_016630.7(SPG21):c.676G>C (p.Asp226His)	SPG21 (D199H +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344118	NM_016630.7(SPG21):c.64A>G (p.Ile22Val)	SPG21 (I22V)	Single nucleotide variant (missense variant)	Mast syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1344117	NM_016630.7(SPG21):c.613C>T (p.Gln205Ter)	SPG21 (Q178* +1 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia	GLikely pathogenic
Select item 1344115	NM_016630.7(SPG21):c.304A>G (p.Lys102Glu)	SPG21 (K102E)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1344114	NM_016630.7(SPG21):c.-25+7del	SPG21	Deletion (intron variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344113	NM_016630.7(SPG21):c.243T>C (p.Tyr81=)	SPG21	Single nucleotide variant (synonymous variant +1 more)	Mast syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1344112	NM_016630.7(SPG21):c.199A>T (p.Thr67Ser)	SPG21 (T67S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344111	NM_016630.7(SPG21):c.172G>A (p.Val58Ile)	SPG21 (V58I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1344110	NM_016630.7(SPG21):c.153T>C (p.Pro51=)	SPG21	Single nucleotide variant (synonymous variant)	Mast syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1328744	NM_016630.7(SPG21):c.226-110C>T	SPG21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1326870	NM_016630.7(SPG21):c.487del (p.Lys162_Ile163insTer)	SPG21	Deletion (nonsense)	Mast syndrome	GPathogenic
Select item 1325118	NM_016630.7(SPG21):c.153del (p.Val52fs)	SPG21 (V52fs)	Deletion (frameshift variant)	Mast syndrome	GLikely pathogenic
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 1295916	NM_016630.7(SPG21):c.63+47T>G	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 1295556	NM_016630.7(SPG21):c.225+95TGTT[7]	SPG21	Microsatellite (intron variant)	not provided	GBenign
Select item 1291804	NM_016630.7(SPG21):c.307-115C>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 1285233	NM_016630.7(SPG21):c.118C>T (p.Arg40Ter)	SPG21 (R40*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1282206	NM_016630.7(SPG21):c.562-232=	SPG21	Single nucleotide variant (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 1276364	NM_016630.7(SPG21):c.562-325C>A	SPG21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274813	NM_016630.7(SPG21):c.63+300C>T	SPG21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271649	NM_016630.7(SPG21):c.64-181C>T	SPG21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248515	NM_016630.7(SPG21):c.669+338=	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 1244977	NM_016630.7(SPG21):c.669+91=	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 1234188	NM_016630.7(SPG21):c.226-86G>C	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 1222872	NM_016630.7(SPG21):c.225+43T>G	SPG21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222665	NM_016630.7(SPG21):c.225+95TGTT[9]	SPG21	Microsatellite (intron variant)	not provided	GBenign
Select item 1220430	NM_016630.7(SPG21):c.64-265del	SPG21	Deletion (intron variant)	not provided	GLikely benign
Select item 1218073	NM_016630.7(SPG21):c.225+302G>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 1208781	NM_016630.7(SPG21):c.225+95TGTT[10]	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 1204721	NM_016630.7(SPG21):c.562-325_562-324del	SPG21	Deletion (intron variant)	not provided	GLikely benign
Select item 1204587	NM_016630.7(SPG21):c.64-282_64-281dup	SPG21	Duplication (intron variant)	not provided	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 1200442	NM_016630.7(SPG21):c.811-319G>A	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 1196868	NM_016630.7(SPG21):c.307-109G>A	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 1195112	NM_016630.7(SPG21):c.64-97C>T	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 1190196	NM_016630.7(SPG21):c.63+216TTAT[7]	SPG21	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1189964	NM_016630.7(SPG21):c.64-83T>C	SPG21	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1126521	NM_016630.7(SPG21):c.84C>T (p.Asp28=)	SPG21	Single nucleotide variant (synonymous variant)	Mast syndrome	GLikely benign
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 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 989200	NM_016630.7(SPG21):c.345_346del (p.Gln116fs)	SPG21 (Q116fs +1 more)	Deletion (frameshift variant)	Mast syndrome	GPathogenic
Select item 980527	GRCh37/hg19 15q22.31(chr15:65221723-65365642)x1	MTFMT, SPG21 +3 more	Copy number loss	not provided	GUncertain significance
Select item 959485	NM_016630.7(SPG21):c.467C>G (p.Pro156Arg)	SPG21 (P129R +1 more)	Single nucleotide variant (missense variant)	Mast syndrome	GUncertain significance
Select item 930348	NM_016630.7(SPG21):c.452+2dup	SPG21	Duplication (splice donor variant)	Mast syndrome	GUncertain significance

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