PAQR3[gene] - ClinVar

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Items: 38

	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 1684642	NC_000004.12:g.67833055_82716065del	GRSF1, LOC126807079 +330 more	Deletion	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 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
Select item 57143	GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1	LOC129992714, LOC129992715 +236 more	Copy number loss	See cases	GPathogenic
Select item 152987	GRCh38/hg38 4q21.1-21.21(chr4:75801143-79005805)x3	ANXA3, ART3 +107 more	Copy number gain	See cases	GPathogenic
Select item 3024368	GRCh38/hg38 4q21.21(chr4:78722180-79522307)	BMP2K, BMP2K-DT +15 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 2378029	NM_198892.2(BMP2K):c.2024A>G (p.Glu675Gly)	BMP2K, PAQR3 (E675G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226894	NM_198892.2(BMP2K):c.2146C>T (p.Pro716Ser)	BMP2K, PAQR3 (P716S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134524	NM_198892.2(BMP2K):c.2317A>G (p.Asn773Asp)	BMP2K, PAQR3 (N736D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276000	NM_198892.2(BMP2K):c.2791G>A (p.Val931Ile)	BMP2K, PAQR3 (V931I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2236573	NM_198892.2(BMP2K):c.3085T>A (p.Ser1029Thr)	BMP2K, PAQR3 (S1029T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 218868	NM_198892.2(BMP2K):c.3481C>T (p.Gln1161Ter)	BMP2K, PAQR3 (Q1161*)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	GBenign/Likely benign
Select item 2220317	NM_001040202.2(PAQR3):c.733A>G (p.Met245Val)	PAQR3 (M127V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3208529	NM_001040202.2(PAQR3):c.718G>T (p.Val240Leu)	PAQR3 (V122L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402601	NM_001040202.2(PAQR3):c.691C>T (p.Pro231Ser)	PAQR3 (P113S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208528	NM_001040202.2(PAQR3):c.674A>G (p.Asn225Ser)	PAQR3 (N107S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363025	NM_001040202.2(PAQR3):c.652A>G (p.Thr218Ala)	PAQR3 (T218A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 91926	NM_001040202.2(PAQR3):c.650C>G (p.Pro217Arg)	PAQR3 (P217R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2207245	NM_001040202.2(PAQR3):c.563C>T (p.Ala188Val)	PAQR3 (A70V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225184	NM_001040202.2(PAQR3):c.538G>A (p.Ala180Thr)	PAQR3 (A62T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208527	NM_001040202.2(PAQR3):c.413G>A (p.Arg138Gln)	PAQR3 (R20Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2654839	NM_001040202.2(PAQR3):c.90G>A (p.Leu30=)	LOC129992736, PAQR3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3208530	NM_001040202.2(PAQR3):c.82A>G (p.Ile28Val)	LOC129992736, PAQR3 (I28V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3062791	GRCh37/hg19 4q21.21(chr4:79086702-80588739)x1	ANXA3, BMP2K +4 more	Copy number loss	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	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 1527095	GRCh37/hg19 4q13.3-21.21(chr4:73055313-80083154)	CXCL5, CXCL6 +51 more	Copy number loss	not specified	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 983172	GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1	ABRAXAS1, ADAMTS3 +97 more	Copy number loss	See cases	GPathogenic
Select item 814566	GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1	CXCL3, LIN54 +82 more	Copy number loss	not provided	GPathogenic
Select item 686225	GRCh37/hg19 4q21.1-21.23(chr4:78769297-84968832)x1	ABRAXAS1, ANTXR2 +29 more	Copy number loss	not provided	GPathogenic
Select item 685236	GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3	CCNG2, CCNI +109 more	Copy number gain	not provided	GPathogenic
Select item 562935	GRCh37/hg19 4q21.21(chr4:79256988-81081299)x1	BMP2K, ANXA3 +6 more	Copy number loss	not provided	GUncertain significance
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic

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Items: 38