"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "MSN"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2660761	NM_002444.3(MSN):c.13-5C>A	MSN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 738604	NM_002444.3(MSN):c.96+7C>T	MSN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1571363	NM_002444.3(MSN):c.429G>A (p.Lys143=)	MSN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 372154	NM_002444.3(MSN):c.511C>T (p.Arg171Trp)	MSN (R171W)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to moesin deficiency +1 more	GPathogenic
Select item 2167660	NM_002444.3(MSN):c.768C>A (p.Val256=)	MSN	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2660762	NM_002444.3(MSN):c.922C>G (p.Gln308Glu)	MSN (Q308E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	AWAT2, BCLAF3 +568 more	Copy number gain	not provided	GUncertain significance

ClinVar