"Fulgent Genetics, Fulgent Genetics"[submitter] AND "XPNPEP3"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 341667	NM_022098.4(XPNPEP3):c.111A>G (p.Pro37=)	XPNPEP3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 641596	NM_022098.4(XPNPEP3):c.119G>A (p.Arg40Lys)	XPNPEP3 (R40K)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 1522050	NM_022098.4(XPNPEP3):c.272G>A (p.Ser91Asn)	XPNPEP3 (S91N)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 700466	NM_022098.4(XPNPEP3):c.366G>A (p.Leu122=)	XPNPEP3	Single nucleotide variant (synonymous variant)	Nephronophthisis-like nephropathy 1	GLikely benign
Select item 1012366	NM_022098.4(XPNPEP3):c.645del (p.Ser216fs)	XPNPEP3 (S216fs)	Deletion (frameshift variant)	Nephronophthisis-like nephropathy 1	GLikely pathogenic
Select item 1596041	NM_022098.4(XPNPEP3):c.793-18C>T	XPNPEP3	Single nucleotide variant (intron variant)	Nephronophthisis-like nephropathy 1	GLikely benign
Select item 216735	NM_022098.4(XPNPEP3):c.891T>G (p.Ile297Met)	XPNPEP3 (I297M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 901648	NM_022098.4(XPNPEP3):c.969+6T>C	XPNPEP3	Single nucleotide variant (intron variant)	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 341669	NM_022098.4(XPNPEP3):c.970-9T>C	XPNPEP3	Single nucleotide variant (intron variant)	Nephronophthisis-like nephropathy 1	GBenign/Likely benign
Select item 702986	NM_022098.4(XPNPEP3):c.970-4C>T	XPNPEP3	Single nucleotide variant (intron variant)	Nephronophthisis-like nephropathy 1	GLikely benign
Select item 696213	NM_022098.4(XPNPEP3):c.1056-9C>T	XPNPEP3	Single nucleotide variant (intron variant)	Kidney disorder +1 more	GConflicting classifications of pathogenicity
Select item 199163	NM_022098.4(XPNPEP3):c.1244G>A (p.Arg415Gln)	XPNPEP3 (R415Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 341677	NM_022098.4(XPNPEP3):c.1313G>A (p.Arg438His)	XPNPEP3 (R438H)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1 +1 more	GUncertain significance
Select item 1555671	NM_022098.4(XPNPEP3):c.1357+19A>G	XPNPEP3	Single nucleotide variant (intron variant)	Nephronophthisis-like nephropathy 1	GBenign/Likely benign
Select item 580250	NM_022098.4(XPNPEP3):c.1516G>A (p.Ala506Thr)	XPNPEP3 (A506T)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1 +1 more	GUncertain significance