C0024814[trait identifier] AND "OMIM"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2628	NM_022464.5(SIL1):c.1370T>C (p.Leu457Pro)	SIL1 (L457P)	Single nucleotide variant (missense variant)	Marinesco-Sjögren syndrome	GPathogenic
Select item 2627	NM_022464.5(SIL1):c.1312C>T (p.Gln438Ter)	SIL1 (Q438*)	Single nucleotide variant (nonsense)	Marinesco-Sjögren syndrome +1 more	GPathogenic
Select item 2626	NM_022464.5(SIL1):c.1029+1G>A	SIL1	Single nucleotide variant (splice donor variant)	Marinesco-Sjögren syndrome	GPathogenic
Select item 2629	NM_022464.5(SIL1):c.936dup (p.Leu313fs)	SIL1 (L313fs)	Duplication (frameshift variant)	Marinesco-Sjögren syndrome	GPathogenic
Select item 2631	NM_022464.5:c.454-6721_768-23561del	SIL1	Deletion	Marinesco-Sjögren syndrome	GPathogenic
Select item 2624	NM_022464.5(SIL1):c.645+2T>C	SIL1	Single nucleotide variant (splice donor variant)	Marinesco-Sjögren syndrome	GLikely pathogenic
Select item 2623	NM_022464.5(SIL1):c.645+1G>A	SIL1	Single nucleotide variant (splice donor variant)	Marinesco-Sjögren syndrome	GPathogenic
Select item 2630	NM_022464.5(SIL1):c.603_607del (p.Glu201fs)	SIL1 (E201fs)	Microsatellite (frameshift variant)	Marinesco-Sjögren syndrome	GPathogenic
Select item 2622	NM_022464.5(SIL1):c.506_509dup (p.Asp170fs)	SIL1 (D170fs)	Microsatellite (frameshift variant)	Marinesco-Sjögren syndrome	GPathogenic
Select item 2625	NM_022464.5(SIL1):c.331C>T (p.Arg111Ter)	SIL1 (R111*)	Single nucleotide variant (nonsense)	Marinesco-Sjögren syndrome	GPathogenic