Related gene-specific medical variations for Gene (Select 100862728) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3186793	NM_007000.4(UPK1A):c.271T>C (p.Ser91Pro)	UPK1A, UPK1A-AS1 (S91P)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3186792	NM_007000.4(UPK1A):c.190G>T (p.Ala64Ser)	UPK1A, UPK1A-AS1 (A64S)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3186791	NM_007000.4(UPK1A):c.117A>G (p.Ile39Met)	UPK1A, UPK1A-AS1 (I39M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2531878	NM_007000.4(UPK1A):c.284C>T (p.Thr95Met)	UPK1A, UPK1A-AS1 (T95M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368635	NM_007000.4(UPK1A):c.98C>G (p.Ser33Cys)	UPK1A, UPK1A-AS1 (S33C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2300004	NM_007000.4(UPK1A):c.196A>G (p.Ile66Val)	UPK1A, UPK1A-AS1 (I66V)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2270688	NM_007000.4(UPK1A):c.221T>C (p.Phe74Ser)	UPK1A, UPK1A-AS1 (E38G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213130	NM_007000.4(UPK1A):c.263G>A (p.Arg88His)	UPK1A, UPK1A-AS1 (R88H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance