PAQR7[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	TXLNA, UBXN11 +1145 more	Copy number gain	See cases	GPathogenic
Select item 152940	GRCh38/hg38 1p36.11(chr1:25369211-25940790)x3	AUNIP, LDLRAP1 +44 more	Copy number gain	See cases	GUncertain significance
Select item 2526078	NM_178422.6(PAQR7):c.1015C>T (p.Arg339Cys)	PAQR7 (R339C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540811	NM_178422.6(PAQR7):c.995T>C (p.Leu332Pro)	PAQR7 (L332P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344022	NM_178422.6(PAQR7):c.971G>A (p.Gly324Asp)	PAQR7 (G324D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603377	NM_178422.6(PAQR7):c.820G>A (p.Gly274Ser)	PAQR7 (G274S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352531	NM_178422.6(PAQR7):c.776T>C (p.Met259Thr)	PAQR7 (M259T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392727	NM_178422.6(PAQR7):c.493G>A (p.Ala165Thr)	PAQR7 (A165T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601643	NM_178422.6(PAQR7):c.442G>A (p.Val148Met)	PAQR7 (V148M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523387	NM_178422.6(PAQR7):c.305C>T (p.Pro102Leu)	PAQR7 (P102L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285581	NM_178422.6(PAQR7):c.262C>T (p.Arg88Trp)	PAQR7 (R88W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556463	NM_178422.6(PAQR7):c.197T>C (p.Phe66Ser)	PAQR7 (F66S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381488	NM_178422.6(PAQR7):c.191C>T (p.Thr64Met)	PAQR7 (T64M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378097	NM_178422.6(PAQR7):c.158C>T (p.Pro53Leu)	PAQR7 (P53L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349864	NM_178422.6(PAQR7):c.143A>G (p.Tyr48Cys)	PAQR7 (Y48C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336728	NM_178422.6(PAQR7):c.92T>A (p.Phe31Tyr)	PAQR7 (F31Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254774	NM_178422.6(PAQR7):c.71C>T (p.Ser24Phe)	PAQR7 (S24F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471093	NM_178422.6(PAQR7):c.43C>T (p.Arg15Trp)	PAQR7 (R15W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2685388	GRCh37/hg19 1p36.11(chr1:25472339-26240071)x1	AUNIP, LDLRAP1 +11 more	Copy number loss	not provided	GUncertain significance
Select item 2426901	NC_000001.10:g.(?_25870190)_(27278871_?)dup	ARID1A, AUNIP +33 more	Duplication	Retinitis pigmentosa 59	GUncertain significance
Select item 1072550	NC_000001.10:g.(?_25870180)_(26795632_?)del	AUNIP, CATSPER4 +22 more	Deletion	Hypercholesterolemia, familial, 4	GPathogenic
Select item 929348	GRCh37/hg19 1p36.11(chr1:25872197-26274156)x3	AUNIP, LDLRAP1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 26