"Illumina Laboratory Services, Illumina"[submitter] AND "UPK3A"[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 341967	NM_006953.4(UPK3A):c.-26C>G	LOC130067680, UPK3A	Single nucleotide variant (5 prime UTR variant)	Renal hypodysplasia/aplasia 1	GUncertain significance
Select item 341968	NM_006953.4(UPK3A):c.-25G>C	LOC130067680, UPK3A	Single nucleotide variant (5 prime UTR variant)	Renal hypodysplasia/aplasia 1	GBenign
Select item 341969	NM_006953.4(UPK3A):c.90C>T (p.Phe30=)	UPK3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 224348	NM_006953.4(UPK3A):c.202G>A (p.Asp68Asn)	UPK3A (D68N)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 1	GUncertain significance
Select item 341970	NM_006953.4(UPK3A):c.209-11C>T	UPK3A	Single nucleotide variant (intron variant)	Renal hypodysplasia/aplasia 1	GUncertain significance
Select item 341971	NM_006953.4(UPK3A):c.259T>G (p.Ser87Ala)	UPK3A (S87A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 341972	NM_006953.4(UPK3A):c.260C>A (p.Ser87Ter)	UPK3A (S87*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GBenign/Likely benign
Select item 903368	NM_006953.4(UPK3A):c.272A>T (p.Gln91Leu)	UPK3A (Q91L)	Single nucleotide variant (missense variant +1 more)	Renal hypodysplasia/aplasia 1	GBenign
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 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 899758	NM_006953.4(UPK3A):c.359G>A (p.Gly120Glu)	UPK3A (G120E)	Single nucleotide variant (missense variant +1 more)	Renal hypodysplasia/aplasia 1	GUncertain significance
Select item 899759	NM_006953.4(UPK3A):c.361G>T (p.Asp121Tyr)	UPK3A (D121Y)	Single nucleotide variant (missense variant +1 more)	Renal hypodysplasia/aplasia 1	GUncertain significance
Select item 341974	NM_006953.4(UPK3A):c.402C>T (p.Val134=)	UPK3A	Single nucleotide variant (synonymous variant +1 more)	Renal hypodysplasia/aplasia 1	GBenign
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 899760	NM_006953.4(UPK3A):c.417C>T (p.Asn139=)	UPK3A	Single nucleotide variant (synonymous variant +1 more)	Renal hypodysplasia/aplasia 1	GLikely benign
Select item 341976	NM_006953.4(UPK3A):c.418G>A (p.Gly140Arg)	UPK3A (G140R)	Single nucleotide variant (missense variant +1 more)	Renal hypodysplasia/aplasia 1	GUncertain significance
Select item 900912	NM_006953.4(UPK3A):c.450C>A (p.Gly150=)	UPK3A	Single nucleotide variant (synonymous variant +1 more)	Renal hypodysplasia/aplasia 1	GUncertain significance
Select item 341977	NM_006953.4(UPK3A):c.460G>C (p.Ala154Pro)	UPK3A (A154P)	Single nucleotide variant (missense variant +1 more)	Renal hypodysplasia/aplasia 1	GBenign
Select item 341978	NM_006953.4(UPK3A):c.465C>T (p.Pro155=)	UPK3A	Single nucleotide variant (synonymous variant +1 more)	Renal hypodysplasia/aplasia 1	GBenign
Select item 341979	NM_006953.4(UPK3A):c.470C>T (p.Ser157Leu)	UPK3A (S157L)	Single nucleotide variant (missense variant +1 more)	Renal hypodysplasia/aplasia 1	GUncertain significance
Select item 900913	NM_006953.4(UPK3A):c.480G>A (p.Thr160=)	UPK3A	Single nucleotide variant (synonymous variant +1 more)	Renal hypodysplasia/aplasia 1	GUncertain significance
Select item 341980	NM_006953.4(UPK3A):c.545G>A (p.Trp182Ter)	UPK3A (W182*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GBenign/Likely benign
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 341982	NM_006953.4(UPK3A):c.560G>A (p.Arg187His)	UPK3A (R187H)	Single nucleotide variant (missense variant +1 more)	Renal hypodysplasia/aplasia 1 +1 more	GUncertain significance
Select item 731820	NM_006953.4(UPK3A):c.571+1G>A	UPK3A	Single nucleotide variant (splice donor variant +1 more)	Renal hypodysplasia/aplasia 1 +1 more	GBenign/Likely benign
Select item 341983	NM_006953.4(UPK3A):c.588G>A (p.Thr196=)	UPK3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely 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 341984	NM_006953.4(UPK3A):c.704+8C>A	UPK3A	Single nucleotide variant (intron variant)	Renal hypodysplasia/aplasia 1	GUncertain significance
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 903431	NM_006953.4(UPK3A):c.732G>A (p.Thr244=)	UPK3A	Single nucleotide variant (synonymous variant)	Renal hypodysplasia/aplasia 1	GUncertain significance
Select item 341986	NM_006953.4(UPK3A):c.802T>C (p.Ser268Pro)	UPK3A (S268P +1 more)	Single nucleotide variant (missense variant)	Renal hypodysplasia/aplasia 1	GUncertain significance
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 341987	NM_006953.4(UPK3A):c.858A>G (p.Gln286=)	UPK3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 341988	NM_006953.4(UPK3A):c.*26C>T	UPK3A	Single nucleotide variant (3 prime UTR variant)	Renal hypodysplasia/aplasia 1	GLikely benign
Select item 341989	NM_006953.4(UPK3A):c.*42C>T	UPK3A	Single nucleotide variant (3 prime UTR variant)	Renal hypodysplasia/aplasia 1	GUncertain significance
Select item 899813	NM_006953.4(UPK3A):c.*73C>T	UPK3A	Single nucleotide variant (3 prime UTR variant)	Renal hypodysplasia/aplasia 1	GLikely benign
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
Select item 1803808	GRCh37/hg19 22q13.2-13.33(chr22:43436847-51188164)x3	MIOX, MPPED1 +76 more	Copy number gain	not provided	GPathogenic

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Items: 39