Related gene-specific medical variations for Gene (Select 7358) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1319156	NM_003359.4(UGDH):c.734G>C (p.Gly245Ala)	UGDH (G148A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 810661	NM_003359.4(UGDH):c.70G>A (p.Ala24Thr)	UGDH (A24T)	Single nucleotide variant (missense variant +1 more)	Epileptic encephalopathy	GLikely pathogenic
Select item 810660	NM_003359.4(UGDH):c.125T>C (p.Ile42Thr)	UGDH (I42T)	Single nucleotide variant (missense variant +1 more)	Epileptic encephalopathy	GLikely pathogenic
Select item 810655	NM_003359.4(UGDH):c.374T>C (p.Ile125Thr)	UGDH (I125T +1 more)	Single nucleotide variant (missense variant +1 more)	Epileptic encephalopathy	GLikely pathogenic
Select item 810654	NM_003359.4(UGDH):c.463C>T (p.Gln155Ter)	UGDH (Q155* +1 more)	Single nucleotide variant (nonsense +1 more)	Epileptic encephalopathy	GLikely pathogenic
Select item 810653	NM_003359.4(UGDH):c.523C>G (p.Pro175Ala)	UGDH (P175A +2 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 810652	NM_003359.4(UGDH):c.651G>C (p.Glu217Asp)	UGDH (E217D +2 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 810651	NM_003359.4(UGDH):c.764T>C (p.Ile255Thr)	UGDH (I158T +2 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 810650	NM_003359.4(UGDH):c.811G>C (p.Gly271Arg)	UGDH (G271R +2 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 810649	NM_003359.4(UGDH):c.907G>A (p.Val303Ile)	UGDH (V206I +2 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 810648	NM_003359.4(UGDH):c.916A>G (p.Met306Val)	UGDH (M306V +2 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 810647	NM_003359.4(UGDH):c.1068T>G (p.Tyr356Ter)	UGDH (Y259* +2 more)	Single nucleotide variant (nonsense)	Epileptic encephalopathy	GLikely pathogenic
Select item 810644	NM_003359.4(UGDH):c.1228G>T (p.Ala410Ser)	UGDH (A313S +2 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 810643	NM_003359.4(UGDH):c.1324C>T (p.Arg442Trp)	UGDH (R375W +2 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 810642	NM_003359.4(UGDH):c.1328G>A (p.Arg443His)	UGDH (R346H +2 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 810641	NM_003359.4(UGDH):c.1346A>G (p.His449Arg)	UGDH (H382R +2 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic