C1848578[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 441041	NM_018368.4(LMBRD1):c.1438A>G (p.Thr480Ala)	LMBRD1 (T480A +1 more)	Single nucleotide variant (missense variant)	Methylmalonic aciduria and homocystinuria type cblF	GUncertain significance
Select item 1323238	NM_018368.4(LMBRD1):c.1339-1G>T	LMBRD1	Single nucleotide variant (splice acceptor variant)	Methylmalonic aciduria and homocystinuria type cblF	GPathogenic/Likely pathogenic
Select item 1324667	NM_018368.4(LMBRD1):c.1338+2T>C	LMBRD1	Single nucleotide variant (splice donor variant)	Methylmalonic aciduria and homocystinuria type cblF +1 more	GConflicting classifications of pathogenicity
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 1070033	NM_018368.4(LMBRD1):c.967_970del (p.Leu323fs)	LMBRD1 (L250fs +1 more)	Microsatellite (frameshift variant)	Methylmalonic aciduria and homocystinuria type cblF	GPathogenic/Likely pathogenic
Select item 863432	NM_018368.4(LMBRD1):c.562C>T (p.His188Tyr)	LMBRD1 (H188Y +1 more)	Single nucleotide variant (missense variant)	Methylmalonic aciduria and homocystinuria type cblF +1 more	GUncertain significance
Select item 2433465	NM_018368.4(LMBRD1):c.78G>C (p.Leu26Phe)	LMBRD1 (L26F)	Single nucleotide variant (5 prime UTR variant +1 more)	Methylmalonic aciduria and homocystinuria type cblF	GUncertain significance

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