Related gene-specific medical variations for Gene (Select 51188) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3170294	NM_001370300.1(SS18L2):c.35G>C (p.Gly12Ala)	SEC22C, SS18L2 (G12A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2566404	NM_001370300.1(SS18L2):c.142G>A (p.Val48Met)	SEC22C, SS18L2 (V48M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400737	NM_001370300.1(SS18L2):c.109G>A (p.Glu37Lys)	SEC22C, SS18L2 (E37K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288598	NM_001370300.1(SS18L2):c.90G>T (p.Gln30His)	SEC22C, SS18L2 (Q30H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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