"Baylor Genetics"[submitter] AND "LMBRD1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 580738	NM_018368.4(LMBRD1):c.1214C>G (p.Thr405Ser)	LMBRD1 (T405S +1 more)	Single nucleotide variant (missense variant)	Methylmalonic aciduria and homocystinuria type cblF +1 more	GUncertain significance
Select item 225048	NM_018368.4(LMBRD1):c.1056del (p.Asn353fs)	LMBRD1 (N280fs +1 more)	Deletion (frameshift variant)	Cobalamin C disease +3 more	GPathogenic
Select item 1032798	NM_018368.4(LMBRD1):c.907C>A (p.Pro303Thr)	LMBRD1 (P230T +1 more)	Single nucleotide variant (missense variant)	Methylmalonic aciduria and homocystinuria type cblF	GUncertain significance
Select item 517	NM_018368.4(LMBRD1):c.515_516del (p.Thr172fs)	LMBRD1 (T172fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2441641	NM_018368.4(LMBRD1):c.323T>C (p.Ile108Thr)	LMBRD1 (I108T +1 more)	Single nucleotide variant (missense variant)	Methylmalonic aciduria and homocystinuria type cblF	GUncertain significance
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic

ClinVar