"PreventionGenetics, part of Exact Sciences"[submitter] AND "LMBRD1"[g - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 261024	NM_018368.4(LMBRD1):c.1509+22G>A	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF +1 more	GBenign/Likely benign
Select item 138124	NM_018368.4(LMBRD1):c.1407T>A (p.Asp469Glu)	LMBRD1 (D469E +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 743007	NM_018368.4(LMBRD1):c.918C>T (p.Ile306=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF +1 more	GLikely benign
Select item 261025	NM_018368.4(LMBRD1):c.763-50T>C	LMBRD1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 2630005	NM_018368.4(LMBRD1):c.762+1G>A	LMBRD1	Single nucleotide variant (splice donor variant)	Methylmalonic aciduria and homocystinuria type cblF +1 more	GLikely pathogenic
Select item 2194186	NM_018368.4(LMBRD1):c.473+10G>C	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF +1 more	GLikely benign
Select item 511809	NM_018368.4(LMBRD1):c.297C>T (p.Tyr99=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF +2 more	GLikely benign
Select item 737676	NM_018368.4(LMBRD1):c.247-4C>T	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF +1 more	GLikely benign
Select item 2741001	NM_018368.4(LMBRD1):c.135C>T (p.Val45=)	LMBRD1	Single nucleotide variant (5 prime UTR variant +1 more)	LMBRD1-related disorder +1 more	GLikely benign