"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "CHMP2B"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 346804	NM_014043.4(CHMP2B):c.34+8C>T	CHMP2B	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 704275	NM_014043.4(CHMP2B):c.35-7C>T	CHMP2B	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 2096563	NM_014043.4(CHMP2B):c.175A>G (p.Lys59Glu)	CHMP2B (K18E +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1307577	NM_014043.4(CHMP2B):c.187A>G (p.Lys63Glu)	CHMP2B (K22E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 872081	NM_014043.4(CHMP2B):c.206G>A (p.Arg69Gln)	CHMP2B (R28Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1298926	NM_014043.4(CHMP2B):c.467A>G (p.Glu156Gly)	CHMP2B (E115G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1366006	NM_014043.4(CHMP2B):c.614G>A (p.Arg205Gln)	CHMP2B (R205Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

ClinVar