"GeneDx"[submitter] AND "UPK3A"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57636	GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1	A4GALT, ACR +521 more	Copy number loss	See cases	GPathogenic
Select item 1249600	NM_006953.4(UPK3A):c.208+298G>C	UPK3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237634	NM_006953.4(UPK3A):c.209-78A>G	UPK3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 391586	NM_006953.4(UPK3A):c.488+2T>C	UPK3A	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance
Select item 341981	NM_006953.4(UPK3A):c.549A>G (p.Ser183=)	UPK3A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
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 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 341987	NM_006953.4(UPK3A):c.858A>G (p.Gln286=)	UPK3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253559	GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	ADM2, A4GALT +128 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic