"MMADHC-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1597077	NM_015702.3(MMADHC):c.741A>G (p.Glu247=)	MMADHC	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblD +1 more	GLikely benign
Select item 203837	NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly)	MMADHC (R216G)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 218723	NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser)	MMADHC (N206S)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 513941	NM_015702.3(MMADHC):c.609+8_609+100del	MMADHC	Deletion (intron variant)	Methylmalonic aciduria and homocystinuria type cblD +3 more	GConflicting classifications of pathogenicity
Select item 198221	NM_015702.3(MMADHC):c.600C>T (p.Leu200=)	MMADHC	Single nucleotide variant (synonymous 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)	MMADHC-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 386041	NM_015702.3(MMADHC):c.420C>T (p.Tyr140=)	MMADHC	Single nucleotide variant (synonymous variant)	MMADHC-related disorder +2 more	GBenign/Likely benign
Select item 991192	NM_015702.3(MMADHC):c.10-9C>G	MMADHC	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblD +1 more	GConflicting classifications of pathogenicity
Select item 3051528	NM_015702.3(MMADHC):c.-9C>T	LOC126806368, MMADHC	Single nucleotide variant (5 prime UTR variant)	MMADHC-related disorder	GLikely benign