PRDM6[gene] - ClinVar - NCBI

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	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 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 147446	GRCh38/hg38 5q23.2(chr5:122479268-126833168)x1	ALDH7A1, CEP120 +86 more	Copy number loss	See cases	GUncertain significance
Select item 2637330	NM_001136239.4(PRDM6):c.76C>T (p.Leu26Phe)	PRDM6, PRDM6-AS1 (L26F)	Single nucleotide variant (non-coding transcript variant +1 more)	PRDM6-related disorder	GUncertain significance
Select item 3309818	NM_001136239.4(PRDM6):c.79T>C (p.Phe27Leu)	PRDM6, PRDM6-AS1 (F27L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2381809	NM_001136239.4(PRDM6):c.85C>T (p.His29Tyr)	PRDM6, PRDM6-AS1 (H29Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2491568	NM_001136239.4(PRDM6):c.98G>C (p.Gly33Ala)	PRDM6, PRDM6-AS1 (G33A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2400328	NM_001136239.4(PRDM6):c.112A>G (p.Ser38Gly)	PRDM6, PRDM6-AS1 (S38G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2309496	NM_001136239.4(PRDM6):c.121G>C (p.Ala41Pro)	PRDM6, PRDM6-AS1 (A41P)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3060736	NM_001136239.4(PRDM6):c.123G>T (p.Ala41=)	PRDM6, PRDM6-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	PRDM6-related disorder	GBenign
Select item 2388757	NM_001136239.4(PRDM6):c.125G>A (p.Gly42Asp)	PRDM6, PRDM6-AS1 (G42D)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2383470	NM_001136239.4(PRDM6):c.128T>C (p.Leu43Pro)	PRDM6, PRDM6-AS1 (L43P)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3050611	NM_001136239.4(PRDM6):c.132G>C (p.Leu44=)	PRDM6, PRDM6-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	PRDM6-related disorder	GBenign
Select item 3356848	NM_001136239.4(PRDM6):c.140C>G (p.Pro47Arg)	PRDM6, PRDM6-AS1 (P47R)	Single nucleotide variant (non-coding transcript variant +1 more)	PRDM6-related disorder	GLikely benign
Select item 3033717	NM_001136239.4(PRDM6):c.153GCC[6] (p.Pro59_Glu60insPro)	PRDM6, PRDM6-AS1	Microsatellite (non-coding transcript variant)	PRDM6-related disorder	GBenign
Select item 2655659	NM_001136239.4(PRDM6):c.153GCC[7] (p.Pro59_Glu60insProPro)	PRDM6, PRDM6-AS1	Microsatellite (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2392440	NM_001136239.4(PRDM6):c.157C>A (p.Pro53Thr)	PRDM6, PRDM6-AS1 (P53T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2598033	NM_001136239.4(PRDM6):c.158C>T (p.Pro53Leu)	PRDM6, PRDM6-AS1 (P53L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2281332	NM_001136239.4(PRDM6):c.161C>T (p.Pro54Leu)	PRDM6, PRDM6-AS1 (P54L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3218451	NM_001136239.4(PRDM6):c.166C>T (p.Pro56Ser)	PRDM6, PRDM6-AS1 (P56S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 768029	NM_001136239.4(PRDM6):c.167_168insG (p.Pro58fs)	PRDM6, PRDM6-AS1 (P58fs)	Insertion (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2600724	NM_001136239.4(PRDM6):c.168C>G (p.Pro56=)	PRDM6, PRDM6-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3309820	NM_001136239.4(PRDM6):c.173C>T (p.Pro58Leu)	PRDM6, PRDM6-AS1 (P58L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2207720	NM_001136239.4(PRDM6):c.173C>G (p.Pro58Arg)	PRDM6, PRDM6-AS1 (P58R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3218452	NM_001136239.4(PRDM6):c.175C>T (p.Pro59Ser)	PRDM6, PRDM6-AS1 (P59S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3309816	NM_001136239.4(PRDM6):c.194C>G (p.Pro65Arg)	PRDM6, PRDM6-AS1 (P65R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2328331	NM_001136239.4(PRDM6):c.199G>A (p.Asp67Asn)	PRDM6, PRDM6-AS1 (D67N)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2324853	NM_001136239.4(PRDM6):c.215G>T (p.Arg72Leu)	PRDM6, PRDM6-AS1 (R72L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2216754	NM_001136239.4(PRDM6):c.226C>T (p.Leu76Phe)	PRDM6, PRDM6-AS1 (L76F)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2435237	NM_001136239.4(PRDM6):c.233C>G (p.Ser78Cys)	PRDM6, PRDM6-AS1 (S78C)	Single nucleotide variant (non-coding transcript variant +1 more)	Patent ductus arteriosus 3 +1 more	GUncertain significance
Select item 3218453	NM_001136239.4(PRDM6):c.239C>T (p.Ser80Leu)	PRDM6, PRDM6-AS1 (S80L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3309817	NM_001136239.4(PRDM6):c.241T>G (p.Ser81Ala)	PRDM6, PRDM6-AS1 (S81A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2306620	NM_001136239.4(PRDM6):c.241T>A (p.Ser81Thr)	PRDM6, PRDM6-AS1 (S81T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2655660	NM_001136239.4(PRDM6):c.268GCCTCCTCC[4] (p.Ser95_Cys96insAlaSerSerAlaSerSer)	PRDM6, PRDM6-AS1	Microsatellite (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 769305	NM_001136239.4(PRDM6):c.268GCCTCCTCC[3] (p.90ASS[3])	PRDM6, PRDM6-AS1	Microsatellite (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3055063	NM_001136239.4(PRDM6):c.315G>A (p.Leu105=)	PRDM6	Single nucleotide variant (synonymous variant)	PRDM6-related disorder	GLikely benign
Select item 3309821	NM_001136239.4(PRDM6):c.326C>T (p.Ser109Leu)	PRDM6 (S109L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346381	NM_001136239.4(PRDM6):c.349C>T (p.Pro117Ser)	PRDM6 (P117S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218454	NM_001136239.4(PRDM6):c.401C>T (p.Pro134Leu)	PRDM6 (P134L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282383	NM_001136239.4(PRDM6):c.418G>C (p.Gly140Arg)	PRDM6 (G140R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218455	NM_001136239.4(PRDM6):c.428C>G (p.Ser143Cys)	PRDM6 (S143C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2655661	NM_001136239.4(PRDM6):c.446A>T (p.Lys149Met)	PRDM6 (K149M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2327251	NM_001136239.4(PRDM6):c.458G>C (p.Gly153Ala)	PRDM6 (G153A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1701482	NM_001136239.4(PRDM6):c.459T>C (p.Gly153=)	PRDM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3218456	NM_001136239.4(PRDM6):c.461G>A (p.Gly154Asp)	PRDM6 (G154D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218457	NM_001136239.4(PRDM6):c.463G>C (p.Gly155Arg)	PRDM6 (G155R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358270	NM_001136239.4(PRDM6):c.472G>C (p.Gly158Arg)	PRDM6 (G158R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218458	NM_001136239.4(PRDM6):c.558C>G (p.Ile186Met)	PRDM6 (I186M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3309815	NM_001136239.4(PRDM6):c.577A>T (p.Ser193Cys)	PRDM6 (S193C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384046	NM_001136239.4(PRDM6):c.577A>G (p.Ser193Gly)	PRDM6 (S193G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3309822	NM_001136239.4(PRDM6):c.617G>C (p.Arg206Pro)	PRDM6 (R206P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535182	NM_001136239.4(PRDM6):c.659G>T (p.Arg220Leu)	PRDM6 (R220L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552055	NM_001136239.4(PRDM6):c.694G>A (p.Ala232Thr)	PRDM6 (A232T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236882	NM_001136239.4(PRDM6):c.700C>T (p.Pro234Ser)	PRDM6 (P234S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521878	NM_001136239.4(PRDM6):c.713C>G (p.Pro238Arg)	PRDM6 (P238R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1050535	NM_001136239.4(PRDM6):c.741G>T (p.Glu247Asp)	PRDM6 (E247D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 243050	NM_001136239.4(PRDM6):c.788G>C (p.Cys263Ser)	PRDM6 (C263S)	Single nucleotide variant (missense variant)	Patent ductus arteriosus 3	GPathogenic
Select item 3060035	NM_001136239.4(PRDM6):c.871G>A (p.Ala291Thr)	PRDM6 (A291T)	Single nucleotide variant (missense variant)	PRDM6-related disorder	GBenign
Select item 2552907	NM_001136239.4(PRDM6):c.901A>G (p.Ile301Val)	PRDM6 (I301V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256516	NM_001136239.4(PRDM6):c.926A>G (p.Gln309Arg)	PRDM6 (Q309R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290366	NM_001136239.4(PRDM6):c.994T>C (p.Cys332Arg)	PRDM6 (C332R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546668	NM_001136239.4(PRDM6):c.1007A>C (p.Asn336Thr)	PRDM6 (N336T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 992789	NM_001136239.4(PRDM6):c.1031C>T (p.Ser344Leu)	PRDM6 (S344L)	Single nucleotide variant (missense variant)	Heart, malformation of	GUncertain significance
Select item 3054072	NM_001136239.4(PRDM6):c.1032G>A (p.Ser344=)	PRDM6	Single nucleotide variant (synonymous variant)	PRDM6-related disorder	GLikely benign
Select item 2401388	NM_001136239.4(PRDM6):c.1046G>A (p.Arg349Gln)	PRDM6 (R349Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2634264	NM_001136239.4(PRDM6):c.1057G>A (p.Asp353Asn)	PRDM6 (D353N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309416	NM_001136239.4(PRDM6):c.1231G>A (p.Ala411Thr)	PRDM6 (A411T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2655662	NM_001136239.4(PRDM6):c.1255G>A (p.Val419Ile)	PRDM6 (V419I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2604812	NM_001136239.4(PRDM6):c.1274C>T (p.Pro425Leu)	PRDM6 (P425L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3355494	NM_001136239.4(PRDM6):c.1275G>A (p.Pro425=)	PRDM6	Single nucleotide variant (synonymous variant)	PRDM6-related disorder	GLikely benign
Select item 2267697	NM_001136239.4(PRDM6):c.1315A>G (p.Ile439Val)	PRDM6 (I439V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 243051	NM_001136239.4(PRDM6):c.1385A>G (p.Gln462Arg)	PRDM6 (Q462R)	Single nucleotide variant (missense variant)	Patent ductus arteriosus 3	GPathogenic
Select item 3309814	NM_001136239.4(PRDM6):c.1391A>G (p.His464Arg)	PRDM6 (H464R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1176810	NM_001136239.4(PRDM6):c.1509C>T (p.Cys503=)	PRDM6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3218450	NM_001136239.4(PRDM6):c.1531T>C (p.Ser511Pro)	PRDM6 (S511P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304060	NM_001136239.4(PRDM6):c.1642A>G (p.Ile548Val)	PRDM6 (I548V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 243049	NM_001136239.4(PRDM6):c.1646G>A (p.Arg549Gln)	PRDM6 (R549Q)	Single nucleotide variant (missense variant)	Patent ductus arteriosus 3	GPathogenic
Select item 3051789	NM_001136239.4(PRDM6):c.1681A>C (p.Arg561=)	PRDM6	Single nucleotide variant (synonymous variant)	PRDM6-related disorder	GLikely benign
Select item 2468704	NM_001136239.4(PRDM6):c.1694G>C (p.Ser565Thr)	PRDM6 (S565T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209359	NM_001136239.4(PRDM6):c.1763G>C (p.Ser588Thr)	PRDM6 (S588T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1031874	NM_001136239.4(PRDM6):c.1781T>G (p.Val594Gly)	PRDM6 (V594G)	Single nucleotide variant (missense variant)	Patent ductus arteriosus 3	GUncertain significance
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
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 1527183	GRCh37/hg19 5q21.1-23.2(chr5:100607918-125900735)	CAMK4, CCDC112 +60 more	Copy number loss	not specified	GPathogenic
Select item 814742	GRCh37/hg19 5q23.2(chr5:122143334-123430731)x3	CEP120, CSNK1G3 +4 more	Copy number gain	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 688560	GRCh37/hg19 5q23.2(chr5:122451606-122673501)x1	PRDM6	Copy number loss	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	AFF4, C5orf46 +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 443241	GRCh37/hg19 5q23.1-23.2(chr5:121108870-122778090)x4	CEP120, FTMT +8 more	Copy number gain	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

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