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

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 307074	NM_052845.4(MMAB):c.*192T>C	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type +1 more	GBenign
Select item 307075	NM_052845.4(MMAB):c.732G>A (p.Ser244=)	MMAB	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type +1 more	GConflicting classifications of pathogenicity
Select item 96245	NM_052845.4(MMAB):c.716T>A (p.Met239Lys)	MMAB (M239K)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type +2 more	GBenign
Select item 513507	NM_052845.4(MMAB):c.666G>A (p.Thr222=)	MMAB	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type +1 more	GLikely benign
Select item 219007	NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys)	MMAB (Y219C)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type +2 more	GConflicting classifications of pathogenicity
Select item 1306747	NM_052845.4(MMAB):c.651T>G (p.Ser217Arg)	MMAB (S217R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 382959	NM_052845.4(MMAB):c.645-4C>T	MMAB	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 680641	NM_052845.4(MMAB):c.645-156T>C	MMAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680640	NM_052845.4(MMAB):c.645-247G>A	MMAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227608	NM_052845.4(MMAB):c.644+213G>A	MMAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680639	NM_052845.4(MMAB):c.644+212C>T	MMAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213036	NM_052845.4(MMAB):c.644+60GCAGCGGT[3]	MMAB	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1206857	NM_052845.4(MMAB):c.644+72C>T	MMAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 387984	NM_052845.4(MMAB):c.624C>T (p.Asn208=)	MMAB	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 515735	NM_052845.4(MMAB):c.615C>G (p.Thr205=)	MMAB	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1207772	NM_052845.4(MMAB):c.585-127C>T	MMAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265051	NM_052845.4(MMAB):c.585-174G>A	MMAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252744	NM_052845.4(MMAB):c.585-203T>C	MMAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249275	NM_052845.4(MMAB):c.585-204G>A	MMAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237056	NM_052845.4(MMAB):c.585-262G>A	MMAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680638	NM_052845.4(MMAB):c.584+254A>G	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type +1 more	GBenign
Select item 1251324	NM_052845.4(MMAB):c.584+251G>A	MMAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203439	NM_052845.4(MMAB):c.584+51A>G	MMAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 262248	NM_052845.4(MMAB):c.584+24A>G	MMAB	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 512304	NM_052845.4(MMAB):c.584+15G>A	MMAB	Single nucleotide variant (intron variant)	not specified +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 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 279853	NM_052845.4(MMAB):c.568C>G (p.Arg190Gly)	MMAB (R190G)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 508933	NM_052845.4(MMAB):c.561C>G (p.Ala187=)	MMAB	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic aciduria, cblB type +1 more	GLikely benign
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 1235738	NM_052845.4(MMAB):c.520-96C>T	MMAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 445309	NM_052845.4(MMAB):c.520-127G>A	MMAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243648	NM_052845.4(MMAB):c.520-128C>T	MMAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294409	NM_052845.4(MMAB):c.520-139G>A	MMAB	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 680637	NM_052845.4(MMAB):c.519+157C>T	MMAB	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1203126	NM_052845.4(MMAB):c.519+98C>T	MMAB	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 287810	NM_052845.4(MMAB):c.444G>A (p.Gly148=)	MMAB	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 383512	NM_052845.4(MMAB):c.421+14T>A	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type +1 more	GLikely benign
Select item 219005	NM_052845.4(MMAB):c.403G>A (p.Ala135Thr)	MMAB (A135T)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 378149	NM_052845.4(MMAB):c.394T>C (p.Cys132Arg)	MMAB (C132R)	Single nucleotide variant (missense variant +1 more)	Methylmalonic aciduria, cblB type +2 more	GConflicting classifications of pathogenicity
Select item 513804	NM_052845.4(MMAB):c.387G>A (p.Ala129=)	MMAB	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 432132	NM_052845.4(MMAB):c.377C>T (p.Ser126Leu)	MMAB (S126L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 445771	NM_052845.4(MMAB):c.349-17T>C	MMAB	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1266654	NM_052845.4(MMAB):c.349-207A>G	MMAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265323	NM_052845.4(MMAB):c.348+177C>T	MMAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676152	NM_052845.4(MMAB):c.348+147G>A	MMAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676151	NM_052845.4(MMAB):c.348+105T>C	MMAB	Single nucleotide variant (intron variant)	Methylmalonic aciduria, cblB type +1 more	GBenign
Select item 385039	NM_052845.4(MMAB):c.348+19C>T	MMAB	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 423265	NM_052845.4(MMAB):c.346A>G (p.Lys116Glu)	MMAB (K116E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1250147	NM_052845.4(MMAB):c.290+204C>T	MMAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177523	NM_052845.4(MMAB):c.290+63T>C	MMAB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 96243	NM_052845.4(MMAB):c.288T>C (p.Ile96=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Hyperimmunoglobulin D with periodic fever +5 more	GBenign/Likely benign
Select item 1249358	NM_052845.4(MMAB):c.197-146C>A	MMAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245137	NM_052845.4(MMAB):c.196+279A>C	MMAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 203817	NM_052845.4(MMAB):c.185C>T (p.Thr62Met)	MMAB, MVK (T62M)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 1234847	NM_052845.4(MMAB):c.135-38dup	MMAB	Duplication (intron variant)	not provided	GBenign
Select item 1281070	NM_052845.4(MMAB):c.135-241T>C	MMAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680635	NM_052845.4(MMAB):c.134+286T>C	MMAB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196212	NM_052845.4(MMAB):c.134+203A>G	MMAB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 763309	NM_052845.4(MMAB):c.99G>A (p.Gln33=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 262247	NM_052845.4(MMAB):c.57C>A (p.Arg19=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Mevalonic aciduria +5 more	GBenign
Select item 219003	NM_052845.4(MMAB):c.56_57delinsAA (p.Arg19Gln)	MMAB, MVK (R19Q)	Indel (missense variant +1 more)	not provided +1 more	GBenign
Select item 262246	NM_052845.4(MMAB):c.56G>A (p.Arg19His)	MMAB, MVK (R19H)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GBenign
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
Select item 307082	NM_052845.4(MMAB):c.-4G>C	MMAB, MVK	Single nucleotide variant (5 prime UTR variant +1 more)	Methylmalonic aciduria, cblB type +1 more	GConflicting classifications of pathogenicity
Select item 513728	NM_052845.4(MMAB):c.-7C>G	MMAB, MVK	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 307083	NM_052845.4(MMAB):c.-9G>T	MMAB, MVK	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 516274	NM_052845.3(MMAB):c.-30G>T	MMAB, MVK	Single nucleotide variant (genic upstream transcript variant)	not specified	GLikely benign
Select item 1326625	NC_000012.12:g.109573541T>C	MMAB, MVK	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1219415	NC_000012.12:g.109573563A>G	MMAB, MVK	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 307086	NM_000431.3(MVK):c.-178A>G	MMAB, MVK	Single nucleotide variant (genic upstream transcript variant)	Hyperimmunoglobulin D with periodic fever +4 more	GConflicting classifications of pathogenicity
Select item 129638	NM_000431.4(MVK):c.155G>A (p.Ser52Asn)	MMAB, MVK (S52N)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign

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Items: 74