ClinVar for Gene (Select 51105) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 106

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3417648	NM_016018.5(PHF20L1):c.2654A>G (p.Asp885Gly)	PHF20L1 (D859G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3417647	NM_016018.5(PHF20L1):c.2848C>G (p.His950Asp)	PHF20L1 (H950D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3417646	NM_016018.5(PHF20L1):c.1997C>A (p.Thr666Asn)	PHF20L1 (T666N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3417645	NM_016018.5(PHF20L1):c.3045C>G (p.Cys1015Trp)	PHF20L1 (C1015W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3417644	NM_016018.5(PHF20L1):c.2653G>A (p.Asp885Asn)	PHF20L1 (D859N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3417643	NM_016018.5(PHF20L1):c.2215C>T (p.Arg739Cys)	PHF20L1 (R713C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3392078	GRCh37/hg19 8q24.22(chr8:133267699-134578639)x3	CCN4, DNAAF11 +7 more	Copy number gain	not provided	GUncertain significance
Select item 3391849	GRCh37/hg19 8q23.2-24.3(chr8:111432348-146295771)x3	MROH1, MROH5 +173 more	Copy number gain	not provided	GPathogenic
Select item 3306140	NM_016018.5(PHF20L1):c.2304A>G (p.Ile768Met)	PHF20L1 (I742M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306139	NM_016018.5(PHF20L1):c.693A>C (p.Glu231Asp)	PHF20L1 (E205D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306138	NM_016018.5(PHF20L1):c.2521A>C (p.Asn841His)	PHF20L1 (N815H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306137	NM_016018.5(PHF20L1):c.145C>T (p.Arg49Cys)	PHF20L1 (R49C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3245518	NC_000008.10:g.(?_133492374)_(134296554_?)dup	CCN4, DNAAF11 +6 more	Duplication	Benign neonatal seizures	GUncertain significance
Select item 3212137	NM_016018.5(PHF20L1):c.692A>G (p.Glu231Gly)	PHF20L1 (E205G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212136	NM_016018.5(PHF20L1):c.3001C>G (p.Leu1001Val)	PHF20L1 (L975V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212135	NM_016018.5(PHF20L1):c.2743G>C (p.Glu915Gln)	PHF20L1 (E915Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212134	NM_016018.5(PHF20L1):c.2554A>G (p.Met852Val)	PHF20L1 (M826V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212133	NM_016018.5(PHF20L1):c.2413C>T (p.Leu805Phe)	PHF20L1 (L805F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212132	NM_016018.5(PHF20L1):c.2180G>A (p.Arg727Gln)	PHF20L1 (R701Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212131	NM_016018.5(PHF20L1):c.1839C>G (p.Ser613Arg)	PHF20L1 (S613R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212130	NM_016018.5(PHF20L1):c.1765A>G (p.Ser589Gly)	PHF20L1 (S589G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212129	NM_016018.5(PHF20L1):c.1586C>T (p.Ser529Leu)	PHF20L1 (S503L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212128	NM_016018.5(PHF20L1):c.1450A>G (p.Thr484Ala)	PHF20L1 (T458A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212127	NM_016018.5(PHF20L1):c.1382T>C (p.Val461Ala)	PHF20L1 (V461A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	ANXA13, AARD +173 more	Copy number gain	not provided	GPathogenic
Select item 2685323	GRCh37/hg19 8q24.22-24.23(chr8:131958531-136738670)x1	ADCY8, CCN4 +13 more	Copy number loss	not provided	GUncertain significance
Select item 2618153	NM_016018.5(PHF20L1):c.2660T>C (p.Val887Ala)	PHF20L1 (V861A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2579176	GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3	LOC130001241, LOC130001242 +559 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2578018	GRCh37/hg19 8q24.21-24.3(chr8:131138343-143473913)	SLA, TRAPPC9 +29 more	Copy number gain	Distal trisomy 8q	GPathogenic
Select item 2558470	NM_016018.5(PHF20L1):c.1328T>C (p.Phe443Ser)	PHF20L1 (F417S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553311	NM_016018.5(PHF20L1):c.1015T>C (p.Ser339Pro)	PHF20L1 (S313P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546903	NM_016018.5(PHF20L1):c.3034G>A (p.Ala1012Thr)	PHF20L1 (A986T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541633	NM_016018.5(PHF20L1):c.1132G>A (p.Glu378Lys)	PHF20L1 (E352K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515814	NM_016018.5(PHF20L1):c.370G>A (p.Val124Ile)	PHF20L1 (V124I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481601	NM_016018.5(PHF20L1):c.2639G>T (p.Gly880Val)	PHF20L1 (G854V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455828	NM_016018.5(PHF20L1):c.2905G>A (p.Val969Ile)	PHF20L1 (V943I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375796	NM_016018.5(PHF20L1):c.332A>G (p.Asn111Ser)	PHF20L1 (N111S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365028	NM_016018.5(PHF20L1):c.146G>A (p.Arg49His)	PHF20L1 (R49H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347275	NM_016018.5(PHF20L1):c.2398C>T (p.His800Tyr)	PHF20L1 (H800Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325408	NM_016018.5(PHF20L1):c.2741C>G (p.Pro914Arg)	PHF20L1 (P914R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318299	NM_016018.5(PHF20L1):c.2810G>C (p.Gly937Ala)	PHF20L1 (G937A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318021	NM_016018.5(PHF20L1):c.43A>T (p.Ile15Phe)	PHF20L1 (I15F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295207	NM_016018.5(PHF20L1):c.2616C>G (p.Asp872Glu)	PHF20L1 (D846E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290443	NM_016018.5(PHF20L1):c.565A>G (p.Ser189Gly)	PHF20L1 (S163G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284230	NM_016018.5(PHF20L1):c.397A>G (p.Ile133Val)	PHF20L1 (I133V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265823	NM_016018.5(PHF20L1):c.1232G>A (p.Arg411Gln)	PHF20L1 (R385Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256729	NM_016018.5(PHF20L1):c.1645A>G (p.Lys549Glu)	PHF20L1 (K523E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237651	NM_016018.5(PHF20L1):c.2558A>G (p.Glu853Gly)	PHF20L1 (E827G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212580	NM_016018.5(PHF20L1):c.1682A>G (p.Lys561Arg)	PHF20L1 (K561R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210646	NM_016018.5(PHF20L1):c.1742A>T (p.His581Leu)	PHF20L1 (H555L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	ADGRB1, ADHFE1 +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1527465	GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771)	ADCK5, ADCY8 +117 more	Copy number gain	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1429361	NC_000008.10:g.(?_133141509)_(134296554_?)dup	NDRG1, DNAAF11 +6 more	Duplication	Benign neonatal seizures	GUncertain significance
Select item 1328457	GRCh37/hg19 8q24.21-24.3(chr8:128878931-141662233)x3	ADCY8, AGO2 +25 more	Copy number gain	not provided	GUncertain significance
Select item 1071384	NC_000008.10:g.(?_133141509)_(134296554_?)del	SLA, CCN4 +6 more	Deletion	Benign neonatal seizures	GPathogenic
Select item 979854	GRCh37/hg19 8q24.22(chr8:133176537-133891988)x1	PHF20L1, DNAAF11 +3 more	Copy number loss	not provided	GUncertain significance
Select item 815169	GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3	ADCK5, ADCY8 +119 more	Copy number gain	not provided	GPathogenic
Select item 815167	GRCh37/hg19 8q24.13-24.3(chr8:126892814-143750028)x1	ADCY8, ADGRB1 +39 more	Copy number loss	not provided	GPathogenic
Select item 815163	GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3	ADGRB1, ADCY8 +155 more	Copy number gain	not provided	GPathogenic
Select item 789772	NM_016018.5(PHF20L1):c.774A>G (p.Thr258=)	PHF20L1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 689071	GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3	ADCK5, ADCY8 +150 more	Copy number gain	not provided	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687747	GRCh37/hg19 8q24.13-24.22(chr8:124120772-135265846)x1	ADCY8, ANXA13 +43 more	Copy number loss	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 685266	GRCh37/hg19 8q24.22(chr8:131915430-135240074)x1	ADCY8, CCN4 +11 more	Copy number loss	not provided	GUncertain significance
Select item 684997	GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3	ADCK5, ADCY8 +132 more	Copy number gain	not provided	GPathogenic
Select item 649641	NC_000008.10:g.(?_133141489)_(134296574_?)dup	CCN4, DNAAF11 +6 more	Duplication	Charcot-Marie-Tooth disease type 4	GUncertain significance
Select item 563555	GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3	ADCK5, ADCY8 +151 more	Copy number gain	not provided	GPathogenic
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442692	GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3	AARD, ADCK5 +172 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 441947	GRCh37/hg19 8q24.21-24.22(chr8:131025817-133947836)x3	ADCY8, ASAP1 +10 more	Copy number gain	See cases	GUncertain significance
Select item 441804	GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3	RRM2B, SLC30A8 +160 more	Copy number gain	See cases	GPathogenic
Select item 441594	GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	SLC45A4, SLC7A13 +189 more	Copy number gain	See cases	GPathogenic
Select item 395449	GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4	AARD, ABRA +228 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	EPPK1, ERICD +499 more	Copy number gain	See cases	GPathogenic
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 144139	GRCh38/hg38 8q24.21-24.3(chr8:130115518-141228210)x3	CCN4, CHRAC1 +206 more	Copy number gain	See cases	GPathogenic

<< First< Prev

Page of 2