CCN4[gene] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	GPAT4, GPAT4-AS1 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC130000897, LOC130000898 +1960 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	PARP10, PCAT1 +1690 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130000867, LOC130000868 +1686 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC130001282, LOC130001283 +1552 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1152 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	AARD, ABRA +1531 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130000908, LOC130000909 +1406 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1329 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130001243, LOC130001244 +1204 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001328, LOC130001329 +1067 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC114827840, LOC121331310 +961 more	Copy number gain	See cases	GPathogenic
Select item 2579176	GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3	CCN3, CCN4 +558 more	Copy number gain	Neurodevelopmental disorder	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 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC129390060, LOC129929031 +745 more	Copy number gain	See cases	GPathogenic
Select item 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 57119	GRCh38/hg38 8q24.21-24.22(chr8:129176782-134170188)x1	ADCY8, ASAP1 +131 more	Copy number loss	See cases	GPathogenic
Select item 144139	GRCh38/hg38 8q24.21-24.3(chr8:130115518-141228210)x3	LOC130001286, LOC130001287 +206 more	Copy number gain	See cases	GPathogenic
Select item 148571	GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3	LOC126860527, LOC126860528 +499 more	Copy number gain	See cases	GPathogenic
Select item 155462	GRCh38/hg38 8q24.22(chr8:132935590-133815152)x3	CCN4, LINC03024 +39 more	Copy number gain	See cases	GUncertain significance
Select item 2473320	NM_003882.4(CCN4):c.28G>A (p.Ala10Thr)	CCN4 (A10T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2473321	NM_003882.4(CCN4):c.29C>A (p.Ala10Glu)	CCN4 (A10E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2473322	NM_003882.4(CCN4):c.34G>A (p.Val12Met)	CCN4 (V12M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 784506	NM_003882.4(CCN4):c.291G>A (p.Arg97=)	CCN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 783535	NM_003882.4(CCN4):c.297C>T (p.Leu99=)	CCN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2591123	NM_003882.4(CCN4):c.370G>A (p.Val124Ile)	CCN4 (V124I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 721056	NM_003882.4(CCN4):c.434C>T (p.Thr145Met)	CCN4 (T145M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 740749	NM_003882.4(CCN4):c.444C>T (p.Asp148=)	CCN4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2570188	NM_003882.4(CCN4):c.490C>T (p.Arg164Cys)	CCN4 (R164C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2455330	NM_003882.4(CCN4):c.512G>A (p.Arg171Gln)	CCN4 (R171Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2492653	NM_003882.4(CCN4):c.538T>G (p.Cys180Gly)	CCN4 (C180G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2623636	NM_003882.4(CCN4):c.574C>T (p.Pro192Ser)	CCN4 (P192S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588515	NM_003882.4(CCN4):c.577C>A (p.Arg193Ser)	CCN4 (R193S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 716123	NM_003882.4(CCN4):c.611-9C>T	CCN4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 730932	NM_003882.4(CCN4):c.726C>T (p.Asn242=)	CCN4	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 787059	NM_003882.4(CCN4):c.855C>T (p.Phe285=)	CCN4 (H134Y)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2537413	NM_003882.4(CCN4):c.925T>C (p.Cys309Arg)	CCN4 (C64R +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	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	LY6E, LY6H +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 2684554	GRCh37/hg19 8q24.22(chr8:134038654-134241503)x3	CCN4, SLA +1 more	Copy number gain	not provided	GUncertain significance
Select item 2578018	GRCh37/hg19 8q24.21-24.3(chr8:131138343-143473913)	ADCY8, AGO2 +29 more	Copy number gain	Distal trisomy 8q	GPathogenic
Select item 2425511	NC_000008.10:g.(?_134107268)_(134296554_?)del	CCN4, NDRG1 +2 more	Deletion	Charcot-Marie-Tooth disease type 4	GPathogenic
Select item 1808009	GRCh37/hg19 8q24.22-24.23(chr8:134229655-137934713)x1	CCN4, KHDRBS3 +3 more	Copy number loss	not provided	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)	AARD, ABRA +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	CCN4, 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	CCN4, DNAAF11 +6 more	Deletion	Benign neonatal seizures	GPathogenic
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 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	MICU3, MIR1234 +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	VPS13B, VPS28 +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	DNAAF11, KCNQ3 +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 563504	GRCh37/hg19 8q24.22(chr8:134201586-134851366)x3	ST3GAL1, CCN4 +1 more	Copy number gain	not provided	GUncertain significance
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	PPP1R16A, PPP1R42 +593 more	Copy number gain	See cases	GPathogenic
Select item 442692	GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3	GML, GPAA1 +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)	NSD3, NSMAF +665 more	Copy number gain	See cases	GPathogenic
Select item 441804	GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3	AARD, ABRA +160 more	Copy number gain	See cases	GPathogenic
Select item 441594	GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	C8orf76, CALB1 +189 more	Copy number gain	See cases	GPathogenic
Select item 395449	GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4	COLEC10, COMMD5 +228 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic

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Items: 79