"Illumina Laboratory Services, Illumina"[submitter] AND "SPG21"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 316714	NM_016630.7(SPG21):c.*593=	SPG21	Single nucleotide variant (no sequence alteration)	Mast syndrome	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	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 215896	NM_016630.7(SPG21):c.846G>A (p.Ala282=)	SPG21	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 220662	NM_016630.7(SPG21):c.843C>T (p.Tyr281=)	SPG21	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 316719	NM_016630.7(SPG21):c.670-13G>T	SPG21	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 316720	NM_016630.7(SPG21):c.538G>A (p.Ala180Thr)	SPG21 (A180T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 316721	NM_016630.7(SPG21):c.360A>G (p.Glu120=)	SPG21	Single nucleotide variant (synonymous variant)	Mast syndrome	GUncertain significance
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 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
Select item 316722	NM_016630.7(SPG21):c.114C>A (p.Gly38=)	SPG21	Single nucleotide variant (synonymous variant)	Mast syndrome	GUncertain significance
Select item 316723	NM_016630.7(SPG21):c.104A>G (p.Tyr35Cys)	SPG21 (Y35C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 316724	NM_016630.7(SPG21):c.82G>C (p.Asp28His)	SPG21 (D28H)	Single nucleotide variant (missense variant)	Mast syndrome	GUncertain significance
Select item 316725	NM_016630.7(SPG21):c.60A>G (p.Lys20=)	SPG21	Single nucleotide variant (synonymous variant)	Mast syndrome	GUncertain significance
Select item 888530	NM_016630.7(SPG21):c.1A>G (p.Met1Val)	SPG21 (M1V)	Single nucleotide variant (missense variant +1 more)	Mast syndrome	GUncertain significance
Select item 316726	NM_016630.7(SPG21):c.-8A>C	SPG21	Single nucleotide variant (5 prime UTR variant)	Mast syndrome	GUncertain significance
Select item 888531	NM_016630.7(SPG21):c.-110C>T	SPG21	Single nucleotide variant (5 prime UTR variant)	Mast syndrome	GUncertain significance
Select item 316727	NM_016630.7(SPG21):c.-117C>G	SPG21	Single nucleotide variant (5 prime UTR variant)	Mast syndrome	GUncertain significance
Select item 316728	NM_016630.7(SPG21):c.-174A>G	SPG21	Single nucleotide variant (5 prime UTR variant)	Mast syndrome	GUncertain significance
Select item 316729	NM_016630.7(SPG21):c.-213C>T	SPG21	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 316731	NM_016630.7(SPG21):c.-241G>A	SPG21	Single nucleotide variant (5 prime UTR variant)	Mast syndrome	GUncertain significance
Select item 316730	NM_016630.7(SPG21):c.-241G>C	SPG21	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 316732	NM_016630.7(SPG21):c.-260A>C	SPG21	Single nucleotide variant (5 prime UTR variant)	Mast syndrome	GUncertain significance

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Items: 31