"UPK3A-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2636161	NM_006953.4(UPK3A):c.148G>C (p.Asp50His)	UPK3A (D50H)	Single nucleotide variant (missense variant)	UPK3A-related condition	GUncertain significance
Select item 341973	NM_006953.4(UPK3A):c.332G>A (p.Ser111Asn)	UPK3A (S111N)	Single nucleotide variant (missense variant +1 more)	UPK3A-related condition +1 more	GUncertain significance
Select item 2631860	NM_006953.4(UPK3A):c.356T>G (p.Ile119Ser)	UPK3A (I119S)	Single nucleotide variant (intron variant +1 more)	UPK3A-related condition	GUncertain significance
Select item 721168	NM_006953.4(UPK3A):c.356T>C (p.Ile119Thr)	UPK3A (I119T)	Single nucleotide variant (missense variant +1 more)	UPK3A-related condition +2 more	GBenign/Likely benign
Select item 341975	NM_006953.4(UPK3A):c.404G>A (p.Arg135Lys)	UPK3A (R135K)	Single nucleotide variant (missense variant +1 more)	UPK3A-related condition +1 more	GConflicting classifications of pathogenicity
Select item 3035875	NM_006953.4(UPK3A):c.447G>C (p.Gln149His)	UPK3A (Q149H)	Single nucleotide variant (missense variant +1 more)	UPK3A-related condition	GLikely benign
Select item 3030096	NM_006953.4(UPK3A):c.585G>A (p.Ser195=)	UPK3A	Single nucleotide variant (synonymous variant)	UPK3A-related condition	GLikely benign
Select item 378846	NM_006953.4(UPK3A):c.628G>A (p.Val210Ile)	UPK3A (V210I +1 more)	Single nucleotide variant (missense variant)	UPK3A-related condition +2 more	GBenign/Likely benign
Select item 902580	NM_006953.4(UPK3A):c.704+8C>G	UPK3A	Single nucleotide variant (intron variant)	UPK3A-related condition +1 more	GBenign/Likely benign
Select item 341985	NM_006953.4(UPK3A):c.731C>T (p.Thr244Met)	UPK3A (T244M +1 more)	Single nucleotide variant (missense variant)	UPK3A-related condition +1 more	GUncertain significance
Select item 432666	NM_006953.4(UPK3A):c.773C>T (p.Ser258Leu)	UPK3A (S258L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3033811	NM_006953.4(UPK3A):c.786G>A (p.Ser262=)	UPK3A	Single nucleotide variant (synonymous variant)	UPK3A-related condition	GLikely benign
Select item 873	NM_006953.4(UPK3A):c.818C>T (p.Pro273Leu)	UPK3A (P273L +1 more)	Single nucleotide variant (missense variant)	UPK3A-related condition +2 more	GUncertain significance
Select item 874	NM_006953.4(UPK3A):c.*107T>C	UPK3A	Single nucleotide variant (3 prime UTR variant)	UPK3A-related condition +1 more	GConflicting classifications of pathogenicity