PRR16[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 155259	GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1	LOC129994389, LOC129994390 +340 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	LOC129389350, LOC129389351 +377 more	Copy number loss	See cases	GPathogenic
Select item 146237	GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1	ALDH7A1, AP3S1 +317 more	Copy number loss	See cases	GPathogenic
Select item 145546	GRCh38/hg38 5q22.3-23.2(chr5:114707561-126507744)x1	AP3S1, ARL14EPL +228 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 59449	GRCh38/hg38 5q23.1-23.2(chr5:118854384-122849602)x3	DMXL1, DMXL1-DT +84 more	Copy number gain	See cases	GUncertain significance
Select item 147499	GRCh38/hg38 5q23.1(chr5:120089369-121434433)x1	LOC102467226, LOC121079959 +5 more	Copy number loss	See cases	GUncertain significance
Select item 3219366	NM_001300783.2(PRR16):c.159+16610C>A	PRR16 (L18I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512464	NM_001300783.2(PRR16):c.207T>G (p.Asp69Glu)	PRR16 (D46E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205710	NM_001300783.2(PRR16):c.236C>T (p.Thr79Met)	PRR16 (T9M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539835	NM_001300783.2(PRR16):c.255T>A (p.Ser85Arg)	PRR16 (S15R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219364	NM_001300783.2(PRR16):c.262A>G (p.Thr88Ala)	PRR16 (T18A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223117	NM_001300783.2(PRR16):c.284T>C (p.Ile95Thr)	PRR16 (I25T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402847	NM_001300783.2(PRR16):c.344C>T (p.Thr115Met)	PRR16 (T115M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217492	NM_001300783.2(PRR16):c.374C>A (p.Pro125His)	PRR16 (P102H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219365	NM_001300783.2(PRR16):c.439G>T (p.Val147Leu)	PRR16 (V77L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3310446	NM_001300783.2(PRR16):c.460C>G (p.Leu154Val)	PRR16 (L154V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594297	NM_001300783.2(PRR16):c.509A>G (p.Asp170Gly)	PRR16 (D100G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378690	NM_001300783.2(PRR16):c.611G>A (p.Arg204Gln)	PRR16 (R134Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219367	NM_001300783.2(PRR16):c.635A>G (p.Gln212Arg)	PRR16 (Q189R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218216	NM_001300783.2(PRR16):c.668G>C (p.Arg223Pro)	PRR16 (R153P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370211	NM_001300783.2(PRR16):c.797G>C (p.Gly266Ala)	PRR16 (G266A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458940	NM_001300783.2(PRR16):c.829C>A (p.Pro277Thr)	PRR16 (P254T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266982	NM_001300783.2(PRR16):c.877A>C (p.Lys293Gln)	PRR16 (K223Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 57490	GRCh38/hg38 5q23.1-23.2(chr5:120695675-124525372)x1	CEP120, CSNK1G3 +55 more	Copy number loss	See cases	GPathogenic
Select item 58355	GRCh38/hg38 5q23.1-23.2(chr5:120739630-126823984)x1	ALDH7A1, CEP120 +105 more	Copy number loss	See cases	GPathogenic
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 2685169	GRCh37/hg19 5q23.1-23.2(chr5:119452524-121673870)x1	FTMT, LOX +4 more	Copy number loss	not provided	GLikely pathogenic
Select item 1809359	GRCh37/hg19 5q22.2-23.3(chr5:112557391-128106299)x1	ALDH7A1, AP3S1 +46 more	Copy number loss	not provided	GPathogenic
Select item 1807610	GRCh37/hg19 5q23.1(chr5:116399071-120032310)x3	DMXL1, DTWD2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1527183	GRCh37/hg19 5q21.1-23.2(chr5:100607918-125900735)	CAMK4, CCDC112 +60 more	Copy number loss	not specified	GPathogenic
Select item 1340144	GRCh37/hg19 5q23.1(chr5:120009035-120230180)x3	PRR16	Copy number gain	not provided	GLikely benign
Select item 1177480	GRCh37/hg19 5q23.1(chr5:116419511-120022321)x3	DMXL1, DTWD2 +4 more	Copy number gain	not provided	Gnot provided
Select item 980737	GRCh37/hg19 5q23.1(chr5:119774502-119917830)x1	PRR16	Copy number loss	not provided	GUncertain significance
Select item 980736	GRCh37/hg19 5q23.1(chr5:119346619-120426118)x3	PRR16	Copy number gain	not provided	GLikely benign
Select item 980735	GRCh37/hg19 5q23.1(chr5:119293947-120122543)x3	PRR16	Copy number gain	not provided	GLikely benign
Select item 814740	GRCh37/hg19 5q23.1(chr5:119652022-119810070)x1	PRR16	Copy number loss	not provided	GLikely benign
Select item 814739	GRCh37/hg19 5q23.1(chr5:119293947-120814758)x1	PRR16	Copy number loss	not provided	GLikely benign
Select item 688743	GRCh37/hg19 5q23.1(chr5:117373700-121001806)x1	DMXL1, DTWD2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 685538	GRCh37/hg19 5q21.3-23.1(chr5:108304806-121335239)x1	AP3S1, APC +39 more	Copy number loss	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CCDC69, CCNH +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 443905	GRCh37/hg19 5q23.1(chr5:119299325-120814719)x1	PRR16	Copy number loss	See cases	GLikely benign
Select item 443187	GRCh37/hg19 5q23.1(chr5:119965198-120214834)x1	PRR16	Copy number loss	See cases	GUncertain significance
Select item 442507	GRCh37/hg19 5q23.1(chr5:119328169-121159273)x1	PRR16	Copy number loss	See cases	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 395290	GRCh37/hg19 5q22.1-23.2(chr5:110407606-122522885)x1	TRIM36, TSLP +41 more	Copy number loss	See cases	GPathogenic
Select item 394696	GRCh37/hg19 5q23.1(chr5:119354448-120770069)x1	PRR16	Copy number loss	See cases	GBenign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 56