ClinVar for MedGen (Select 1802793) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2506998	NM_001258392.3(CLPB):c.449_455del (p.Val150fs)	CLPB (Q70fs +2 more)	Deletion (frameshift variant)	Neutropenia, severe congenital, 9, autosomal dominant	GPathogenic
Select item 1676586	NM_001258392.3(CLPB):c.1768C>T (p.Arg590Cys)	CLPB (R620C +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1676584	NM_001258392.3(CLPB):c.1591C>G (p.Arg531Gly)	CLPB (R561G +3 more)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 9, autosomal dominant	GPathogenic
Select item 1676583	NM_001258392.3(CLPB):c.1073C>A (p.Thr358Lys)	CLPB (T388K +3 more)	Single nucleotide variant (missense variant)	Neutropenia, severe congenital, 9, autosomal dominant	GPathogenic
Select item 644249	NM_001258392.3(CLPB):c.214G>A (p.Gly72Arg)	CLPB, LOC130006336 (G72R)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria, type VIIA +2 more	GUncertain significance
Select item 643064	NM_001258392.3(CLPB):c.1592G>A (p.Arg531Gln)	CLPB (R531Q +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 573047	NM_001258392.3(CLPB):c.748C>G (p.Arg250Gly)	CLPB (R280G +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB +2 more	GUncertain significance
Select item 571670	NM_001258392.3(CLPB):c.844A>G (p.Met282Val)	CLPB (M312V +3 more)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria, type VIIB +3 more	GUncertain significance
Select item 235218	NM_030813.6(CLPB):c.668G>A (p.Ser223Asn)	CLPB (S223N +1 more)	Single nucleotide variant (missense variant +1 more)	Neutropenia, severe congenital, 9, autosomal dominant +4 more	GBenign/Likely benign
Select item 187786	NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter)	LOC126861258, CLPB (R417* +3 more)	Single nucleotide variant (nonsense)	Neutropenia, severe congenital, 9, autosomal dominant +3 more	GPathogenic
Select item 187785	NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly)	CLPB, LOC126861258 (R408G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic