20373[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 58573	GRCh38/hg38 15q22.31(chr15:64448836-65975439)x3	ANKDD1A, CILP +97 more	Copy number gain	See cases	GPathogenic
Select item 151181	GRCh38/hg38 15q22.31(chr15:64671902-65034346)x1	ANKDD1A, LOC125078103 +34 more	Copy number loss	See cases	GUncertain significance
Select item 150666	GRCh38/hg38 15q22.31(chr15:64946408-65006295)x1	ANKDD1A, LOC130057306 +3 more	Copy number loss	See cases	GLikely benign
Select item 316714	NM_016630.7(SPG21):c.*593=	SPG21	Single nucleotide variant (no sequence alteration)	not provided +1 more	GLikely benign
Select item 884249	NM_016630.7(SPG21):c.*489C>T	SPG21	Single nucleotide variant (3 prime UTR variant)	Mast syndrome	GLikely benign
Select item 316715	NM_016630.7(SPG21):c.*257=	SPG21	Single nucleotide variant (no sequence alteration)	Mast syndrome +1 more	GBenign
Select item 886279	NM_016630.7(SPG21):c.*165C>T	SPG21	Single nucleotide variant (3 prime UTR variant)	Mast syndrome	GUncertain significance
Select item 886280	NM_016630.7(SPG21):c.*75=	SPG21	Variation (no sequence alteration)	Mast syndrome	GBenign
Select item 316716	NM_016630.7(SPG21):c.*63C>T	SPG21	Single nucleotide variant (3 prime UTR variant)	Mast syndrome	GUncertain significance
Select item 316717	NM_016630.7(SPG21):c.*47T>C	SPG21	Single nucleotide variant (3 prime UTR variant)	Mast syndrome	GUncertain significance
Select item 886281	NM_016630.7(SPG21):c.*33G>A	SPG21	Single nucleotide variant (3 prime UTR variant)	Mast syndrome	GUncertain significance
Select item 316718	NM_016630.7(SPG21):c.*19T>A	SPG21	Single nucleotide variant (3 prime UTR variant)	Mast syndrome	GUncertain significance
Select item 886282	NM_016630.7(SPG21):c.*11G>A	SPG21	Single nucleotide variant (3 prime UTR 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 705517	NM_016630.7(SPG21):c.873C>T (p.Ala291=)	SPG21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 573515	NM_016630.7(SPG21):c.862A>G (p.Met288Val)	SPG21 (M288V +1 more)	Single nucleotide variant (missense variant)	Mast syndrome +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 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 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 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 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 641199	NM_016630.7(SPG21):c.811-4A>T	SPG21	Single nucleotide variant (intron variant)	Mast syndrome	GUncertain significance
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 1596443	NM_016630.7(SPG21):c.810+12C>T	SPG21	Single nucleotide variant (intron 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 1411087	NM_016630.7(SPG21):c.810+3A>G	SPG21	Single nucleotide variant (intron variant)	Mast syndrome +1 more	GUncertain significance
Select item 696703	NM_016630.7(SPG21):c.771A>C (p.Pro257=)	SPG21	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
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 654554	NM_016630.7(SPG21):c.740G>C (p.Arg247Thr)	SPG21 (R220T +1 more)	Single nucleotide variant (missense variant)	Mast syndrome	GUncertain significance
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 1956378	NM_016630.7(SPG21):c.702T>C (p.Ala234=)	SPG21	Single nucleotide variant (synonymous variant)	Mast syndrome	GLikely benign
Select item 700654	NM_016630.7(SPG21):c.687G>A (p.Ala229=)	SPG21	Single nucleotide variant (synonymous variant)	Mast syndrome	GLikely benign
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 316719	NM_016630.7(SPG21):c.670-13G>T	SPG21	Single nucleotide variant (intron variant)	Mast syndrome +1 more	GConflicting classifications of pathogenicity
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 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 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 661183	NM_016630.7(SPG21):c.625G>A (p.Val209Met)	SPG21 (V182M +1 more)	Single nucleotide variant (missense variant)	Mast syndrome	GUncertain significance
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 2490	NM_016630.7(SPG21):c.601dup (p.Thr201fs)	SPG21 (T201fs +1 more)	Duplication (frameshift variant)	Hereditary spastic paraplegia +1 more	GPathogenic
Select item 705110	NM_016630.7(SPG21):c.597A>G (p.Arg199=)	SPG21	Single nucleotide variant (synonymous variant)	Mast syndrome	GLikely benign
Select item 2645449	NM_016630.7(SPG21):c.594A>G (p.Ser198=)	SPG21	Single nucleotide variant (synonymous variant)	not provided	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 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 316720	NM_016630.7(SPG21):c.538G>A (p.Ala180Thr)	SPG21 (A180T +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 188225	NM_016630.7(SPG21):c.526A>G (p.Met176Val)	SPG21 (M176V +1 more)	Single nucleotide variant (missense variant)	Mast syndrome	GUncertain significance
Select item 756759	NM_016630.7(SPG21):c.525T>C (p.Pro175=)	SPG21	Single nucleotide variant (synonymous variant)	Mast syndrome	GLikely benign
Select item 409263	NM_016630.7(SPG21):c.516G>A (p.Pro172=)	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 1326870	NM_016630.7(SPG21):c.487del (p.Lys162_Ile163insTer)	SPG21	Deletion (nonsense)	Mast syndrome	GPathogenic
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 699356	NM_016630.7(SPG21):c.471A>G (p.Ala157=)	SPG21	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 844145	NM_016630.7(SPG21):c.453-3C>T	SPG21	Single nucleotide variant (intron variant)	Mast syndrome	GUncertain significance
Select item 1225589	NM_016630.7(SPG21):c.452+219dup	SPG21	Duplication (intron variant)	not provided	GBenign
Select item 930348	NM_016630.7(SPG21):c.452+2dup	SPG21	Duplication (splice donor variant)	Mast syndrome	GUncertain significance
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 648202	NM_016630.7(SPG21):c.404A>G (p.Asn135Ser)	SPG21 (N135S +1 more)	Single nucleotide variant (missense variant)	Mast syndrome	GUncertain significance
Select item 1596104	NM_016630.7(SPG21):c.390C>T (p.Ser130=)	SPG21	Single nucleotide variant (synonymous variant)	Mast syndrome	GLikely benign
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 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 316721	NM_016630.7(SPG21):c.360A>G (p.Glu120=)	SPG21	Single nucleotide variant (synonymous variant)	Mast syndrome	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 989200	NM_016630.7(SPG21):c.345_346del (p.Gln116fs)	SPG21 (Q116fs +1 more)	Deletion (frameshift variant)	Mast syndrome	GPathogenic
Select item 127082	NM_016630.7(SPG21):c.322G>C (p.Ala108Pro)	SPG21 (A108P +1 more)	Single nucleotide variant (missense variant)	Mast syndrome	GPathogenic
Select item 887277	NM_016630.7(SPG21):c.321C>T (p.Gly107=)	SPG21	Single nucleotide variant (synonymous variant)	Mast syndrome	GConflicting classifications of pathogenicity
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 2740840	NM_016630.7(SPG21):c.307-7T>C	SPG21	Single nucleotide variant (intron variant)	Mast syndrome	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 1291804	NM_016630.7(SPG21):c.307-115C>T	SPG21	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2578742	NM_016630.7(SPG21):c.306+6T>A	SPG21	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1344115	NM_016630.7(SPG21):c.304A>G (p.Lys102Glu)	SPG21 (K102E)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia +1 more	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 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 1805260	NM_016630.7(SPG21):c.226-1G>A	SPG21	Single nucleotide variant (intron variant +1 more)	Mast syndrome	GLikely pathogenic
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 241114	NM_016630.7(SPG21):c.223G>A (p.Ala75Thr)	SPG21 (A75T)	Single nucleotide variant (missense variant)	Mast syndrome +1 more	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 1406982	NM_016630.7(SPG21):c.204A>G (p.Gly68=)	SPG21	Single nucleotide variant (synonymous variant)	Mast syndrome	GLikely benign
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 887278	NM_016630.7(SPG21):c.190T>C (p.Leu64=)	SPG21	Single nucleotide variant (synonymous variant)	Mast syndrome	GUncertain significance
Select item 887279	NM_016630.7(SPG21):c.177T>C (p.Phe59=)	SPG21	Single nucleotide variant (synonymous variant)	Mast syndrome	GConflicting classifications of pathogenicity

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