"Ambry Genetics"[submitter] AND "UGDH"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2478392	NM_003359.4(UGDH):c.1439C>G (p.Pro480Arg)	UGDH (P413R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186038	NM_003359.4(UGDH):c.1423C>A (p.Pro475Thr)	UGDH (P378T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285619	NM_003359.4(UGDH):c.1423C>T (p.Pro475Ser)	UGDH (P475S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2622305	NM_003359.4(UGDH):c.1421C>T (p.Ala474Val)	UGDH (A474V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235431	NM_003359.4(UGDH):c.1396G>A (p.Val466Met)	UGDH (V466M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265840	NM_003359.4(UGDH):c.1292A>G (p.Lys431Arg)	UGDH (K334R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330806	NM_003359.4(UGDH):c.1270del (p.Asp424fs)	UGDH (D424fs +2 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2607981	NM_003359.4(UGDH):c.569G>T (p.Arg190Ile)	UGDH (R123I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186039	NM_003359.4(UGDH):c.344G>A (p.Arg115His)	UGDH (R115H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance