"Counsyl"[submitter] AND "MMAA"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 551711	NM_172250.3(MMAA):c.1A>G (p.Met1Val)	MMAA (M1V)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 552349	NM_172250.3(MMAA):c.15_16del (p.Pro6fs)	MMAA (P6fs)	Deletion (frameshift variant)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 218969	NM_172250.3(MMAA):c.64C>T (p.Arg22Ter)	MMAA (R22*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria, cblA type +2 more	GPathogenic
Select item 440795	NM_172250.3(MMAA):c.72C>A (p.Tyr24Ter)	MMAA (Y24*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria of the cblA complementation type +1 more	GPathogenic
Select item 554217	NM_172250.3(MMAA):c.124C>T (p.Gln42Ter)	MMAA (Q42*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria, cblA type	GPathogenic/Likely pathogenic
Select item 347597	NM_172250.3(MMAA):c.124C>G (p.Gln42Glu)	MMAA (Q42E)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 347598	NM_172250.3(MMAA):c.128C>T (p.Pro43Leu)	MMAA (P43L)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 218970	NM_172250.3(MMAA):c.161G>A (p.Trp54Ter)	MMAA (W54*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria, cblA type	GPathogenic/Likely pathogenic
Select item 556914	NM_172250.3(MMAA):c.206del (p.Thr69fs)	MMAA (T69fs)	Deletion (frameshift variant)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 218971	NM_172250.3(MMAA):c.266T>C (p.Leu89Pro)	MMAA (L89P)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GPathogenic/Likely pathogenic
Select item 3158	NM_172250.3(MMAA):c.283C>T (p.Gln95Ter)	MMAA (Q95*)	Single nucleotide variant (nonsense)	Methylmalonic acidemia +1 more	GPathogenic
Select item 203814	NM_172250.3(MMAA):c.387C>A (p.Tyr129Ter)	MMAA (Y129*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria, cblA type +3 more	GPathogenic
Select item 550209	NM_172250.3(MMAA):c.411_414del (p.Asn137fs)	MMAA (N137fs)	Deletion (frameshift variant)	Methylmalonic aciduria, cblA type +1 more	GPathogenic/Likely pathogenic
Select item 558172	NM_172250.3(MMAA):c.439+1G>A	MMAA	Single nucleotide variant (splice donor variant)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 549964	NM_172250.3(MMAA):c.439+4_439+7del	MMAA	Deletion (splice donor variant)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 551182	NM_172250.3(MMAA):c.450dup (p.Pro151fs)	MMAA (P151fs)	Duplication (frameshift variant)	Methylmalonic aciduria, cblA type +2 more	GPathogenic
Select item 558450	NM_172250.3(MMAA):c.508_509insAGG (p.Arg170delinsLysGly)	MMAA	Insertion (inframe_indel)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 554640	NM_172250.3(MMAA):c.551dup (p.Cys184fs)	MMAA (C184fs)	Duplication (frameshift variant)	Methylmalonic aciduria, cblA type	GPathogenic
Select item 553872	NM_172250.3(MMAA):c.562+1G>T	MMAA	Single nucleotide variant (splice donor variant)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 466217	NM_172250.3(MMAA):c.586C>T (p.Arg196Ter)	MMAA (R196*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria, cblA type +2 more	GPathogenic
Select item 556203	NM_172250.3(MMAA):c.594dup (p.Glu199Ter)	MMAA (E199*)	Duplication (nonsense)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 218976	NM_172250.3(MMAA):c.650T>A (p.Leu217Ter)	MMAA (L217*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria, cblA type +1 more	GPathogenic/Likely pathogenic
Select item 218978	NM_172250.3(MMAA):c.733+1G>A	MMAA	Single nucleotide variant (splice donor variant)	Methylmalonic aciduria, cblA type	GPathogenic/Likely pathogenic
Select item 557501	NM_172250.3(MMAA):c.812_813dup (p.Leu272fs)	MMAA (L272fs)	Duplication (frameshift variant)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 552542	NM_172250.3(MMAA):c.833G>A (p.Gly278Asp)	MMAA (G278D)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type +1 more	GConflicting classifications of pathogenicity
Select item 554664	NM_172250.3(MMAA):c.952C>T (p.Gln318Ter)	MMAA (Q318*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria, cblA type	GLikely pathogenic
Select item 555331	NM_172250.3(MMAA):c.970-2A>T	MMAA	Single nucleotide variant (splice acceptor variant)	Methylmalonic aciduria, cblA type	GPathogenic
Select item 557259	NM_172250.3(MMAA):c.1060_1065del (p.Glu354_Leu355del)	MMAA	Deletion (inframe_deletion)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 556925	NM_172250.3(MMAA):c.1075C>G (p.Arg359Gly)	MMAA (R359G)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 466216	NM_172250.3(MMAA):c.1075C>T (p.Arg359Ter)	MMAA (R359*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria, cblA type +1 more	GPathogenic/Likely pathogenic
Select item 554165	NM_172250.3(MMAA):c.1114del (p.Gln372fs)	MMAA (Q372fs)	Deletion (frameshift variant)	Methylmalonic aciduria, cblA type	GPathogenic/Likely pathogenic

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Items: 31