C1855102[trait identifier] AND "Baumgartner lab, University Children's - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 203820	NM_052845.4(MMAB):c.700C>T (p.Gln234Ter)	MMAB (Q234*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 1174002	NM_052845.4(MMAB):c.656_659del (p.Tyr219fs)	MMAB (Y219fs)	Deletion (frameshift variant +1 more)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 1174001	NM_052845.4(MMAB):c.650G>T (p.Ser217Ile)	MMAB (S217I)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 284356	NM_052845.4(MMAB):c.625G>A (p.Val209Met)	MMAB (V209M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1174000	NM_052845.4(MMAB):c.581_582dup (p.Arg195fs)	MMAB (R195fs)	Microsatellite (frameshift variant +1 more)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 374543	NM_052845.4(MMAB):c.582A>T (p.Arg194Ser)	MMAB (R194S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 203822	NM_052845.4(MMAB):c.563_577dup (p.Val188_Ala192dup)	MMAB	Duplication (inframe_insertion +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 554009	NM_052845.4(MMAB):c.577G>A (p.Glu193Lys)	MMAB (E193K)	Single nucleotide variant (non-coding transcript variant +1 more)	Methylmalonic aciduria, cblB type	GConflicting classifications of pathogenicity
Select item 219006	NM_052845.4(MMAB):c.572G>A (p.Arg191Gln)	MMAB (R191Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 218324	NM_052845.4(MMAB):c.571C>T (p.Arg191Trp)	MMAB (R191W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 203819	NM_052845.4(MMAB):c.569G>A (p.Arg190His)	MMAB (R190H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 96244	NM_052845.4(MMAB):c.568C>T (p.Arg190Cys)	MMAB (R190C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 551432	NM_052845.4(MMAB):c.562G>A (p.Val188Met)	MMAB (V188M)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GConflicting classifications of pathogenicity
Select item 1173999	NM_052845.4(MMAB):c.560_561insGGCACGGGC (p.Ala187_Val188insAlaArgAla)	MMAB	Insertion (inframe_insertion +1 more)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 1173998	NM_052845.4(MMAB):c.558_559delinsC (p.Ala187fs)	MMAB (A187fs)	Indel (frameshift variant +1 more)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 552212	NM_052845.4(MMAB):c.557G>A (p.Arg186Gln)	MMAB (R186Q)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type +1 more	GConflicting classifications of pathogenicity
Select item 3095	NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)	MMAB (R186W)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 445684	NM_052845.4(MMAB):c.521C>T (p.Ser174Leu)	MMAB (S174L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 645198	NM_052845.4(MMAB):c.519+1G>A	MMAB	Single nucleotide variant (splice donor variant)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 1173997	NM_052845.4(MMAB):c.487C>T (p.Gln163Ter)	MMAB (Q163*)	Single nucleotide variant (nonsense +1 more)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 1173996	NM_052845.4(MMAB):c.462G>T (p.Glu154Asp)	MMAB (E154D)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 1173995	NM_052845.4(MMAB):c.422-1G>C	MMAB	Single nucleotide variant (splice acceptor variant)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 1173994	NM_052845.4(MMAB):c.380C>A (p.Ala127Asp)	MMAB (A127D)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 1173993	NM_052845.4(MMAB):c.367del (p.Asp123fs)	MMAB (D123fs)	Deletion (frameshift variant +1 more)	Methylmalonic aciduria, cblB type +1 more	GPathogenic
Select item 1173992	NM_052845.4(MMAB):c.348+2_348+3del	MMAB	Deletion (splice donor variant)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 1173991	NM_052845.4(MMAB):c.291-1G>T	MMAB	Single nucleotide variant (splice acceptor variant)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 219004	NM_052845.4(MMAB):c.291-1G>A	MMAB	Single nucleotide variant (splice acceptor variant)	Methylmalonic acidemia +2 more	GPathogenic
Select item 1068489	NM_052845.4(MMAB):c.220G>T (p.Glu74Ter)	MMAB (E74*)	Single nucleotide variant (nonsense +1 more)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 219008	NM_052845.4(MMAB):c.197-1G>T	MMAB	Single nucleotide variant (splice acceptor variant)	Methylmalonic acidemia +1 more	GPathogenic
Select item 1173990	NM_052845.4(MMAB):c.135-1G>A	MMAB	Single nucleotide variant (splice acceptor variant)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 1173989	NM_052845.4(MMAB):c.87T>A (p.Tyr29Ter)	MMAB, MVK (Y29*)	Single nucleotide variant (nonsense +1 more)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 1173988	NM_052845.4(MMAB):c.23del (p.Ser8fs)	MMAB, MVK (S8fs)	Deletion (frameshift variant +1 more)	Methylmalonic aciduria, cblB type	GPathogenic
Select item 550793	NM_052845.4(MMAB):c.12C>A (p.Cys4Ter)	MMAB, MVK (C4*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic

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Items: 33