"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "MASP2"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2638215	NM_006610.4(MASP2):c.1947G>T (p.Val649=)	MASP2, TARDBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025596	NM_006610.4(MASP2):c.1773G>A (p.Pro591=)	MASP2, TARDBP	Single nucleotide variant (synonymous variant)	MASP2-related condition +1 more	GLikely benign
Select item 291802	NM_006610.4(MASP2):c.467G>A (p.Cys156Tyr)	MASP2 (C156Y)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 874902	NM_006610.4(MASP2):c.352C>T (p.Arg118Cys)	MASP2 (R118C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 291809	NM_006610.4(MASP2):c.234+13C>T	MASP2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 291811	NM_006610.4(MASP2):c.231C>T (p.Val77=)	MASP2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2638216	NM_006610.4(MASP2):c.39G>A (p.Ser13=)	MASP2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

ClinVar