ClinVar for MedGen (Select 1720141) - ClinVar - NCBI

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

Links from MedGen

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367062	NM_003359.4(UGDH):c.1136A>T (p.Asp379Val)	UGDH (D282V +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 84	GUncertain significance
Select item 3233379	NM_003359.4(UGDH):c.927C>G (p.Tyr309Ter)	UGDH (Y212* +2 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 84	GUncertain significance
Select item 2690415	NM_003359.4(UGDH):c.304C>T (p.Arg102Trp)	UGDH (R102W +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 84	GUncertain significance
Select item 1699071	NM_003359.4(UGDH):c.311C>T (p.Ala104Val)	UGDH (A104V +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 84	GUncertain significance
Select item 810662	NM_003359.4(UGDH):c.41A>G (p.Tyr14Cys)	UGDH (Y14C)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 84 +2 more	GConflicting classifications of pathogenicity
Select item 810659	NM_003359.4(UGDH):c.131C>T (p.Ala44Val)	UGDH (A44V)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 84 +1 more	GLikely pathogenic
Select item 810658	NM_003359.4(UGDH):c.193C>T (p.Arg65Ter)	UGDH (R65*)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 84	GPathogenic
Select item 810657	NM_003359.4(UGDH):c.214T>G (p.Ser72Ala)	UGDH (S72A)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 84 +1 more	GPathogenic/Likely pathogenic
Select item 810656	NM_003359.4(UGDH):c.244G>A (p.Ala82Thr)	UGDH (A82T)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 84 +1 more	GPathogenic/Likely pathogenic
Select item 810646	NM_003359.4(UGDH):c.1100A>G (p.Tyr367Cys)	UGDH (Y367C +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 84 +1 more	GPathogenic/Likely pathogenic
Select item 810645	NM_003359.4(UGDH):c.1177C>T (p.Arg393Trp)	UGDH (R393W +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 84	GLikely pathogenic
Select item 592087	NM_003359.4(UGDH):c.950G>A (p.Arg317Gln)	UGDH (R317Q +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 84	GPathogenic/Likely pathogenic