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

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58044	GRCh38/hg38 4q31.21-31.3(chr4:140876253-152186578)x3	ABCE1, ANAPC10 +214 more	Copy number gain	See cases	GPathogenic
Select item 392376	NM_172250.3(MMAA):c.-71G>C	MMAA, LOC129993163	Single nucleotide variant (5 prime UTR variant)	Methylmalonic aciduria, cblA type +1 more	GConflicting classifications of pathogenicity
Select item 1326747	NM_172250.3(MMAA):c.-66+36G>C	LOC129993163, MMAA	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1240548	NM_172250.3(MMAA):c.-66+52C>T	LOC129993163, MMAA	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1226045	NM_172250.3(MMAA):c.-65-249A>C	MMAA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 138236	NM_172250.3(MMAA):c.-56A>G	MMAA	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign
Select item 383060	NM_172250.3(MMAA):c.-35A>T	MMAA	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 902093	NM_172250.3(MMAA):c.-14C>T	MMAA	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 262806	NM_172250.3(MMAA):c.138T>C (p.Ser46=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type +2 more	GBenign
Select item 523564	NM_172250.3(MMAA):c.304G>A (p.Ala102Thr)	MMAA (A102T)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type +4 more	GConflicting classifications of pathogenicity
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 3160	NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)	MMAA (R145*)	Single nucleotide variant (nonsense)	MMAA-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 1181373	NM_172250.3(MMAA):c.439+108A>G	MMAA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292631	NM_172250.3(MMAA):c.439+178A>G	MMAA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242330	NM_172250.3(MMAA):c.439+262C>T	MMAA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2203575	NM_172250.3(MMAA):c.440-2A>G	MMAA	Single nucleotide variant (splice acceptor variant)	not provided +1 more	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 440801	NM_172250.3(MMAA):c.455del (p.Pro152fs)	MMAA (P152fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 451256	NM_172250.3(MMAA):c.489del (p.Phe163fs)	MMAA (F163fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1234844	NM_172250.3(MMAA):c.563-71C>G	MMAA	Single nucleotide variant (intron variant)	not provided	GBenign
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 203815	NM_172250.3(MMAA):c.593_596del (p.Thr198fs)	MMAA (T198fs)	Deletion (frameshift variant)	Methylmalonic aciduria, cblA type +2 more	GPathogenic
Select item 347600	NM_172250.3(MMAA):c.597G>A (p.Glu199=)	MMAA	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 347601	NM_172250.3(MMAA):c.630A>G (p.Pro210=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type +2 more	GConflicting classifications of pathogenicity
Select item 3343442	NM_172250.3(MMAA):c.673A>G (p.Asn225Asp)	MMAA (N225D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 451146	NM_172250.3(MMAA):c.701C>T (p.Ala234Val)	MMAA (A234V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 511282	NM_172250.3(MMAA):c.729C>T (p.Thr243=)	MMAA	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 516273	NM_172250.3(MMAA):c.733+13T>C	MMAA	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 667501	NM_172250.3(MMAA):c.733+276T>G	MMAA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174037	NM_172250.3(MMAA):c.734-74G>A	MMAA	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblA type +1 more	GBenign
Select item 138237	NM_172250.3(MMAA):c.747G>A (p.Ser249=)	MMAA	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 466218	NM_172250.3(MMAA):c.800C>T (p.Ala267Val)	MMAA (A267V)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type +1 more	GUncertain significance
Select item 1267781	NM_172250.3(MMAA):c.819+168C>G	MMAA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220596	NM_172250.3(MMAA):c.819+252C>T	MMAA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667502	NM_172250.3(MMAA):c.820-169T>C	MMAA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187879	NM_172250.3(MMAA):c.820-139G>A	MMAA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221832	NM_172250.3(MMAA):c.820-101T>C	MMAA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250014	NM_172250.3(MMAA):c.970-216A>T	MMAA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 507876	NM_172250.3(MMAA):c.970-6C>T	MMAA	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblA type +1 more	GLikely benign
Select item 203816	NM_172250.3(MMAA):c.988C>T (p.Arg330Ter)	MMAA (R330*)	Single nucleotide variant (nonsense)	Methylmalonic acidemia +2 more	GPathogenic
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 576575	NM_172250.3(MMAA):c.1084C>T (p.Gln362Ter)	MMAA (Q362*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria, cblA type +1 more	GLikely pathogenic
Select item 96533	NM_172250.3(MMAA):c.1089G>C (p.Gln363His)	MMAA (Q363H)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type +2 more	GBenign
Select item 430558	NM_172250.3(MMAA):c.1104G>A (p.Trp368Ter)	MMAA (W368*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 347608	NM_172250.3(MMAA):c.1177G>A (p.Glu393Lys)	MMAA (E393K)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type +1 more	GUncertain significance
Select item 382371	NM_172250.3(MMAA):c.1236A>G (p.Lys412=)	MMAA	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria, cblA type +1 more	GBenign/Likely benign
Select item 347615	NM_172250.3(MMAA):c.*306T>A	MMAA	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 253973	GRCh37/hg19 4q31.21-31.22(chr4:146210804-146816268)x1	ZNF827, C4orf51 +2 more	Copy number loss	See cases	GUncertain significance
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	AADAT, ABCE1 +142 more	Copy number gain	See cases	GPathogenic

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Items: 51