"GeneDx"[submitter] AND "CHMP4B"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 1240673	NM_176812.5(CHMP4B):c.-75C>G	CHMP4B, LOC112694706	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1287238	NM_176812.5(CHMP4B):c.190+226C>G	CHMP4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180415	NM_176812.5(CHMP4B):c.191-295C>T	CHMP4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2662226	NM_176812.5(CHMP4B):c.219G>T (p.Lys73Asn)	CHMP4B (K73N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311838	NM_176812.5(CHMP4B):c.221G>T (p.Arg74Met)	CHMP4B (R74M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304620	NM_176812.5(CHMP4B):c.460G>A (p.Gly154Arg)	CHMP4B (G154R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1214730	NM_176812.5(CHMP4B):c.484-139G>T	CHMP4B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 534366	NM_176812.5(CHMP4B):c.558C>T (p.Pro186=)	CHMP4B	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1226643	NM_176812.5(CHMP4B):c.610+44A>G	CHMP4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272193	NM_176812.5(CHMP4B):c.610+51C>G	CHMP4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249701	NM_176812.5(CHMP4B):c.610+52T>C	CHMP4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1686775	NM_176812.5(CHMP4B):c.610+81G>A	CHMP4B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265978	NM_176812.5(CHMP4B):c.610+159T>C	CHMP4B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 262916	NM_176812.5(CHMP4B):c.*1T>C	CHMP4B	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign