"Baylor Genetics"[submitter] AND "MMAB"[gene] - 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)	Methylmalonic aciduria, cblB type +2 more	GPathogenic
Select item 3239721	NM_052845.4(MMAB):c.599dup (p.Gln201fs)	MMAB (Q201fs)	Duplication (frameshift variant +1 more)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 3241953	NM_052845.4(MMAB):c.584+2T>A	MMAB	Single nucleotide variant (splice donor variant)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 218322	NM_052845.4(MMAB):c.584G>A (p.Arg195His)	MMAB (R195H)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia +1 more	GConflicting classifications of pathogenicity
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 2676612	NM_052845.4(MMAB):c.574_577del (p.Ala192fs)	MMAB (A192fs)	Deletion (frameshift variant +1 more)	Methylmalonic aciduria, cblB type	GPathogenic/Likely pathogenic
Select item 554009	NM_052845.4(MMAB):c.577G>A (p.Glu193Lys)	MMAB (E193K)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GPathogenic/Likely pathogenic
Select item 219006	NM_052845.4(MMAB):c.572G>A (p.Arg191Gln)	MMAB (R191Q)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type +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)	Methylmalonic aciduria, cblB type +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	GPathogenic/Likely pathogenic
Select item 3095	NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)	MMAB (R186W)	Single nucleotide variant (missense variant +1 more)	Methylmalonic acidemia +3 more	GPathogenic/Likely pathogenic
Select item 2676613	NM_052845.4(MMAB):c.541_554dup (p.Cys185fs)	MMAB (C185fs)	Duplication (frameshift variant +1 more)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 218328	NM_052845.4(MMAB):c.548A>T (p.His183Leu)	MMAB (H183L)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2676617	NM_052845.4(MMAB):c.539C>A (p.Ser180Ter)	MMAB (S180*)	Single nucleotide variant (nonsense +1 more)	Methylmalonic aciduria, cblB type	GLikely 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 2676615	NM_052845.4(MMAB):c.502dup (p.Thr168fs)	MMAB (T168fs)	Duplication (frameshift variant +1 more)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 551214	NM_052845.4(MMAB):c.454G>T (p.Glu152Ter)	MMAB (E152*)	Single nucleotide variant (nonsense +1 more)	Methylmalonic aciduria, cblB type +1 more	GPathogenic/Likely pathogenic
Select item 553274	NM_052845.4(MMAB):c.398C>T (p.Ser133Phe)	MMAB (S133F)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GConflicting classifications of pathogenicity
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 acidemia +1 more	GPathogenic
Select item 218325	NM_052845.4(MMAB):c.349-1G>C	MMAB	Single nucleotide variant (splice acceptor variant)	Methylmalonic aciduria, cblB type	GPathogenic/Likely pathogenic
Select item 219004	NM_052845.4(MMAB):c.291-1G>A	MMAB	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic
Select item 966752	NM_052845.4(MMAB):c.290+1G>A	MMAB	Single nucleotide variant (splice donor variant)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 218326	NM_052845.4(MMAB):c.290G>A (p.Gly97Glu)	MMAB (G97E)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type	GPathogenic/Likely pathogenic
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 aciduria, cblB type +1 more	GPathogenic
Select item 3239722	NM_052845.4(MMAB):c.197-2A>G	MMAB	Single nucleotide variant (splice acceptor variant)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 2676614	NM_052845.4(MMAB):c.112C>T (p.Gln38Ter)	MMAB, MVK (Q38*)	Single nucleotide variant (nonsense +1 more)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 2676618	NM_052845.4(MMAB):c.63C>A (p.Cys21Ter)	MMAB, MVK (C21*)	Single nucleotide variant (nonsense +1 more)	Methylmalonic aciduria, cblB type	GLikely pathogenic
Select item 2676616	NM_052845.4(MMAB):c.32del (p.Gly11fs)	MMAB, MVK (G11fs)	Deletion (frameshift variant +1 more)	Methylmalonic aciduria, cblB type	GLikely pathogenic
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