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

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152517	GRCh38/hg38 2q22.3-23.2(chr2:145471053-149582570)x1	ACVR2A, EPC2 +54 more	Copy number loss	See cases	GPathogenic
Select item 331373	NM_015702.3(MMADHC):c.*126A>G	MMADHC	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 331374	NM_015702.3(MMADHC):c.*89T>C	MMADHC	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 511595	NM_015702.3(MMADHC):c.819T>C (p.His273=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD +1 more	GLikely benign
Select item 618213	NM_015702.3(MMADHC):c.742C>T (p.Arg248Cys)	MMADHC (R248C)	Single nucleotide variant (missense variant)	Methylmalonic aciduria and homocystinuria type cblD +1 more	GUncertain significance
Select item 1293889	NM_015702.3(MMADHC):c.696+83G>A	MMADHC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2507317	NM_015702.3(MMADHC):c.683C>G (p.Ser228Ter)	MMADHC (S228*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria and homocystinuria type cblD +1 more	GPathogenic/Likely pathogenic
Select item 960731	NM_015702.3(MMADHC):c.646C>T (p.Arg216Ter)	MMADHC (R216*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria and homocystinuria type cblD +2 more	GPathogenic/Likely pathogenic
Select item 203837	NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly)	MMADHC (R216G)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 218723	NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser)	MMADHC (N206S)	Single nucleotide variant (missense variant)	Methylmalonic aciduria and homocystinuria type cblD +3 more	GBenign/Likely benign
Select item 1193031	NM_015702.3(MMADHC):c.610-95T>C	MMADHC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204268	NM_015702.3(MMADHC):c.610-192T>G	MMADHC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682623	NM_015702.3(MMADHC):c.609+322_609+333del	MMADHC	Deletion (intron variant)	not provided	GBenign
Select item 1217555	NM_015702.3(MMADHC):c.609+167T>G	MMADHC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 513941	NM_015702.3(MMADHC):c.609+8_609+100del	MMADHC	Deletion (intron variant)	Methylmalonic aciduria and homocystinuria type cblD +2 more	GConflicting classifications of pathogenicity
Select item 285847	NM_015702.3(MMADHC):c.578T>C (p.Val193Ala)	MMADHC (V193A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 260678	NM_015702.3(MMADHC):c.479-22G>C	MMADHC	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1243857	NM_015702.3(MMADHC):c.479-114C>A	MMADHC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215094	NM_015702.3(MMADHC):c.479-232del	MMADHC	Deletion (intron variant)	not provided	GLikely benign
Select item 1260792	NM_015702.3(MMADHC):c.478+266_478+267del	MMADHC	Microsatellite (intron variant)	not provided	GBenign
Select item 682622	NM_015702.3(MMADHC):c.478+261A>T	MMADHC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296482	NM_015702.3(MMADHC):c.478+134G>A	MMADHC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200118	NM_015702.3(MMADHC):c.478+27A>T	MMADHC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 331378	NM_015702.3(MMADHC):c.478+6T>G	MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD +2 more	GBenign
Select item 377064	NM_015702.3(MMADHC):c.473G>A (p.Arg158Gln)	MMADHC (R158Q)	Single nucleotide variant (missense variant)	Disorders of Intracellular Cobalamin Metabolism +3 more	GBenign/Likely benign
Select item 265247	NM_015702.3(MMADHC):c.472C>T (p.Arg158Ter)	MMADHC (R158*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 203836	NM_015702.3(MMADHC):c.453G>A (p.Gln151=)	MMADHC	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 331379	NM_015702.3(MMADHC):c.428G>T (p.Ser143Ile)	MMADHC (S143I)	Single nucleotide variant (missense variant)	Methylmalonic aciduria and homocystinuria type cblD +3 more	GBenign
Select item 386041	NM_015702.3(MMADHC):c.420C>T (p.Tyr140=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD +1 more	GBenign/Likely benign
Select item 331380	NM_015702.3(MMADHC):c.412G>A (p.Glu138Lys)	MMADHC (E138K)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 1239809	NM_015702.3(MMADHC):c.373-72G>C	MMADHC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282191	NM_015702.3(MMADHC):c.372+243A>C	MMADHC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267502	NM_015702.3(MMADHC):c.372+54_372+55dup	MMADHC	Duplication (intron variant)	not provided	GBenign
Select item 1189563	NM_015702.3(MMADHC):c.155-38A>G	MMADHC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193676	NM_015702.3(MMADHC):c.154+187G>A	MMADHC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293646	NM_015702.3(MMADHC):c.154+173_154+174insAAAAAG	MMADHC	Insertion (intron variant)	not provided	GBenign
Select item 331383	NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn)	MMADHC (K29N)	Single nucleotide variant (missense variant)	Disorders of Intracellular Cobalamin Metabolism +3 more	GBenign/Likely benign
Select item 650141	NM_015702.3(MMADHC):c.41A>G (p.Tyr14Cys)	MMADHC (Y14C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1223889	NM_015702.3(MMADHC):c.10-30C>T	MMADHC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193578	NM_015702.3(MMADHC):c.10-179T>A	MMADHC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1174429	NM_015702.3(MMADHC):c.9+255del	MMADHC	Deletion (intron variant)	not provided	GBenign
Select item 382393	NM_015702.3(MMADHC):c.9+17T>A	LOC126806368, MMADHC	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 384901	NM_015702.3(MMADHC):c.9+14C>T	LOC126806368, MMADHC	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 378151	NM_015702.3(MMADHC):c.-8C>T	LOC126806368, MMADHC	Single nucleotide variant (5 prime UTR variant)	Methylmalonic aciduria and homocystinuria type cblD +2 more	GConflicting classifications of pathogenicity
Select item 331385	NM_015702.3(MMADHC):c.-16A>G	LOC126806368, MMADHC	Single nucleotide variant (5 prime UTR variant)	Disorders of Intracellular Cobalamin Metabolism +2 more	GConflicting classifications of pathogenicity
Select item 331386	NM_015702.3(MMADHC):c.-49T>C	LOC126806368, MMADHC	Single nucleotide variant (5 prime UTR variant)	not specified +3 more	GBenign
Select item 1242154	NM_015702.3(MMADHC):c.-52-26G>C	LOC126806368, MMADHC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1320636	NM_015702.3(MMADHC):c.-52-79C>A	LOC126806368, MMADHC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247490	NM_015702.3(MMADHC):c.-52-150G>A	LOC126806368, MMADHC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216481	NM_015702.3(MMADHC):c.-53+256C>G	LOC126806368, MMADHC +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 381837	NM_015702.3(MMADHC):c.-53+18C>T	LOC126806368, MMADHC +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 385796	NM_015702.3(MMADHC):c.-55C>G	LOC126806368, MMADHC +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 331388	NM_015702.3(MMADHC):c.-60G>A	LOC126806368, MMADHC +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Disorders of Intracellular Cobalamin Metabolism +2 more	GConflicting classifications of pathogenicity
Select item 331390	NM_015702.3(MMADHC):c.-145A>G	LOC126806368, MMADHC +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Methylmalonic aciduria and homocystinuria type cblD +2 more	GBenign/Likely benign
Select item 253848	GRCh37/hg19 2q23.1-23.3(chr2:149811293-151128706)x3	MMADHC, LYPD6 +1 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 55