NAP1L5[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 145649	GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1	ABCG2, ABRAXAS1 +244 more	Copy number loss	See cases	GPathogenic
Select item 152923	GRCh38/hg38 4q21.23-22.2(chr4:85449365-93973194)x1	ABCG2, AFF1 +126 more	Copy number loss	See cases	GPathogenic
Select item 14009	GRCh38/hg38 4q22.1(chr4:88504598-90127832)x3	CCSER1, FAM13A +43 more	Copy number gain	Autosomal dominant Parkinson disease 4	GPathogenic
Select item 2285887	NM_153757.4(NAP1L5):c.504A>T (p.Lys168Asn)	HERC3, NAP1L5 (K168N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298430	NM_153757.4(NAP1L5):c.443A>C (p.Glu148Ala)	HERC3, NAP1L5 (E148A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289353	NM_153757.4(NAP1L5):c.442G>A (p.Glu148Lys)	HERC3, NAP1L5 (E148K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 773709	NM_153757.4(NAP1L5):c.427G>A (p.Glu143Lys)	HERC3, NAP1L5 (E143K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2459486	NM_153757.4(NAP1L5):c.425A>G (p.Glu142Gly)	HERC3, NAP1L5 (E142G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250314	NM_153757.4(NAP1L5):c.407G>A (p.Gly136Glu)	HERC3, NAP1L5 (G136E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175072	NM_153757.4(NAP1L5):c.406G>A (p.Gly136Arg)	HERC3, NAP1L5 (G136R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175062	NM_153757.4(NAP1L5):c.297T>G (p.Asp99Glu)	HERC3, NAP1L5 (D99E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255154	NM_153757.4(NAP1L5):c.200A>G (p.Asn67Ser)	HERC3, NAP1L5 (N67S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363603	NM_153757.4(NAP1L5):c.194C>A (p.Pro65Gln)	HERC3, NAP1L5 (P65Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175046	NM_153757.4(NAP1L5):c.193C>T (p.Pro65Ser)	HERC3, NAP1L5 (P65S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602748	NM_153757.4(NAP1L5):c.140C>A (p.Ala47Glu)	HERC3, NAP1L5 (A47E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367168	NM_153757.4(NAP1L5):c.101G>A (p.Gly34Asp)	HERC3, NAP1L5 (G34D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175092	NM_153757.4(NAP1L5):c.99G>T (p.Gln33His)	HERC3, NAP1L5 (Q33H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175088	NM_153757.4(NAP1L5):c.85G>C (p.Glu29Gln)	HERC3, NAP1L5 (E29Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352372	NM_153757.4(NAP1L5):c.61G>A (p.Ala21Thr)	HERC3, NAP1L5 (A21T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527089	NM_153757.4(NAP1L5):c.53C>T (p.Ala18Val)	HERC3, NAP1L5 (A18V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548789	NM_153757.4(NAP1L5):c.34C>A (p.Pro12Thr)	HERC3, NAP1L5 (P12T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548788	NM_153757.4(NAP1L5):c.33G>T (p.Glu11Asp)	HERC3, NAP1L5 (E11D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304720	NM_153757.4(NAP1L5):c.29C>T (p.Ala10Val)	HERC3, NAP1L5 (A10V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3175057	NM_153757.4(NAP1L5):c.25C>A (p.Pro9Thr)	HERC3, NAP1L5 (P9T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340024	NM_153757.4(NAP1L5):c.10T>A (p.Ser4Thr)	HERC3, NAP1L5 (S4T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062764	GRCh37/hg19 4q21.21-22.3(chr4:81558759-95965995)x1	ABCG2, ABRAXAS1 +59 more	Copy number loss	not specified	GPathogenic
Select item 3062760	GRCh37/hg19 4q21.23-22.3(chr4:85139670-96295033)x3	ABCG2, AFF1 +40 more	Copy number gain	not specified	GLikely pathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	AADAT, AASDH +537 more	Copy number gain	not provided	GPathogenic
Select item 1527108	GRCh37/hg19 4q21.23-22.1(chr4:85839771-93071150)	ABCG2, AFF1 +31 more	Copy number loss	not specified	GPathogenic
Select item 1527103	GRCh37/hg19 4q21.21-22.1(chr4:81054789-90667421)	ABCG2, ABRAXAS1 +53 more	Copy number loss	not specified	GPathogenic
Select item 1527100	GRCh37/hg19 4q21.21-22.2(chr4:79780152-94873225)	ABCG2, ABRAXAS1 +63 more	Copy number loss	not specified	GPathogenic
Select item 1527097	GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156)	ABCG2, ABRAXAS1 +91 more	Copy number gain	not specified	GPathogenic
Select item 1341211	GRCh37/hg19 4q21.21-22.1(chr4:80467886-93362064)x1	ABCG2, ABRAXAS1 +58 more	Copy number loss	not provided	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 976807	Single allele	DMP1, ABCG2 +22 more	Deletion	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 638111	GRCh37/hg19 4q21.21-22.1(chr4:80482400-92572499)x1	GPRIN3, HELQ +57 more	Copy number loss	See cases	GPathogenic
Select item 562937	GRCh37/hg19 4q21.21-22.3(chr4:81314915-96636651)x1	ABCG2, ABRAXAS1 +60 more	Copy number loss	not provided	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394976	GRCh37/hg19 4q21.21-22.1(chr4:82283358-90341831)x1	ABCG2, ABRAXAS1 +47 more	Copy number loss	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic

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Items: 46