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

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 384203	NM_013391.3(DMGDH):c.2535A>G (p.Glu845=)	LOC126807431, DMGDH	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 3046286	NM_013391.3(DMGDH):c.2261T>C (p.Phe754Ser)	DMGDH (F754S)	Single nucleotide variant (missense variant)	DMGDH-related disorder	GBenign
Select item 380020	NM_013391.3(DMGDH):c.2250+9A>G	DMGDH	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 387454	NM_013391.3(DMGDH):c.1815-5C>T	DMGDH	Single nucleotide variant (intron variant)	DMGDH-related disorder +1 more	GLikely benign
Select item 3049191	NM_013391.3(DMGDH):c.1814+10C>T	DMGDH	Single nucleotide variant (intron variant)	DMGDH-related disorder	GLikely benign
Select item 3037136	NM_013391.3(DMGDH):c.1429A>C (p.Arg477=)	DMGDH	Single nucleotide variant (synonymous variant +1 more)	DMGDH-related disorder	GLikely benign
Select item 377777	NM_013391.3(DMGDH):c.898C>T (p.Leu300Phe)	DMGDH (L300F)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 3051362	NM_013391.3(DMGDH):c.557A>G (p.Tyr186Cys)	DMGDH (Y186C)	Single nucleotide variant (missense variant)	DMGDH-related disorder	GLikely benign
Select item 3034483	NM_013391.3(DMGDH):c.315G>A (p.Leu105=)	DMGDH	Single nucleotide variant (synonymous variant)	DMGDH-related disorder	GLikely benign
Select item 3058304	NM_013391.3(DMGDH):c.101+10G>T	DMGDH	Single nucleotide variant (intron variant)	DMGDH-related disorder	GLikely benign
Select item 3040607	NM_013391.3(DMGDH):c.69C>T (p.Pro23=)	DMGDH	Single nucleotide variant (synonymous variant +1 more)	DMGDH-related disorder	GLikely benign