ClinVar for Gene (Select 11236) - ClinVar

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Links from Gene

Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3155052	NM_007218.4(RNF139):c.965G>A (p.Arg322His)	RNF139 (R322H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155050	NM_007218.4(RNF139):c.64C>T (p.Leu22Phe)	RNF139 (L22F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155049	NM_007218.4(RNF139):c.389T>G (p.Leu130Arg)	RNF139 (L130R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155048	NM_007218.4(RNF139):c.322G>A (p.Ala108Thr)	RNF139 (A108T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155047	NM_007218.4(RNF139):c.19C>T (p.Pro7Ser)	RNF139 (P7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155046	NM_007218.4(RNF139):c.1631A>G (p.Asn544Ser)	RNF139 (N544S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155045	NM_007218.4(RNF139):c.1222T>G (p.Tyr408Asp)	RNF139 (Y408D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155044	NM_007218.4(RNF139):c.116A>G (p.Asn39Ser)	RNF139 (N39S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155042	NM_007218.4(RNF139):c.116A>C (p.Asn39Thr)	RNF139 (N39T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063053	GRCh37/hg19 8q24.11-24.22(chr8:118071721-132774256)x1	ADCY8, ANXA13 +51 more	Copy number loss	not specified	GPathogenic
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 2671975	GRCh37/hg19 8q24.13-24.21(chr8:124534271-129054138)x4	ANXA13, FAM91A1 +19 more	Copy number gain	Distal trisomy 8q	GPathogenic
Select item 2622540	NM_007218.4(RNF139):c.773G>T (p.Arg258Met)	RNF139 (R258M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615923	NM_032026.4(TATDN1):c.886G>A (p.Gly296Arg)	RNF139, TATDN1 (G151R +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2580301	GRCh37/hg19 8q24.11-24.13(chr8:118185471-126635744)x1	ANXA13, ATAD2 +41 more	Copy number loss	Exostoses, multiple, type 1	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 2552279	NM_007218.4(RNF139):c.1708C>T (p.Leu570Phe)	RNF139 (L570F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552116	NM_007218.4(RNF139):c.709A>G (p.Ile237Val)	RNF139 (I237V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462999	NM_007218.4(RNF139):c.1337T>C (p.Ile446Thr)	RNF139 (I446T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427513	NC_000008.10:g.(?_124515613)_(126379127_?)dup	ANXA13, FAM91A1 +13 more	Duplication	not provided	GUncertain significance
Select item 2425276	NC_000008.10:g.(?_124545411)_(125559374_?)dup	ANXA13, FAM91A1 +8 more	Duplication	not provided	GUncertain significance
Select item 2409098	NM_007218.4(RNF139):c.1732A>G (p.Ile578Val)	RNF139 (I578V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407501	NM_007218.4(RNF139):c.1788G>C (p.Lys596Asn)	RNF139 (K596N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386533	NM_032026.4(TATDN1):c.878T>C (p.Phe293Ser)	RNF139, TATDN1 (F329S +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2381447	NM_007218.4(RNF139):c.1903A>T (p.Thr635Ser)	RNF139 (T635S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377552	NM_007218.4(RNF139):c.1606A>G (p.Lys536Glu)	RNF139 (K536E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338912	NM_007218.4(RNF139):c.775A>G (p.Met259Val)	RNF139 (M259V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333747	NM_007218.4(RNF139):c.1325C>T (p.Thr442Met)	RNF139 (T442M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298513	NM_007218.4(RNF139):c.1147G>C (p.Val383Leu)	RNF139 (V383L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271549	NM_007218.4(RNF139):c.1390G>A (p.Val464Ile)	RNF139 (V464I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261597	NM_007218.4(RNF139):c.490A>G (p.Ile164Val)	RNF139 (I164V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258326	NM_007218.4(RNF139):c.1750A>G (p.Met584Val)	RNF139 (M584V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235030	NM_007218.4(RNF139):c.1874C>G (p.Ser625Cys)	RNF139 (S625C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223166	NM_007218.4(RNF139):c.908A>G (p.His303Arg)	RNF139 (H303R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808708	GRCh37/hg19 8q23.3-24.22(chr8:112234557-133668379)x1	AARD, ADCY8 +63 more	Copy number loss	not provided	GPathogenic
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 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1049429	NM_007218.4(RNF139):c.1928G>C (p.Arg643Thr)	RNF139 (R643T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 815164	GRCh37/hg19 8q24.13(chr8:124878368-126737708)x3	TRIB1, FER1L6 +10 more	Copy number gain	not provided	GUncertain significance
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 687742	GRCh37/hg19 8q24.13(chr8:125310755-125983817)x3	MTSS1, NDUFB9 +4 more	Copy number gain	not provided	GUncertain significance
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	VPS13B, VPS28 +474 more	Copy number gain	not provided	GPathogenic
Select item 687465	GRCh37/hg19 8q24.13-24.21(chr8:123074293-131113892)x1	ANXA13, ASAP1 +31 more	Copy number loss	not provided	GPathogenic
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 599306	Single allele	PCAT1, POU5F1B +52 more	Deletion	Trichorhinophalangeal dysplasia type I	GPathogenic
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	KCNQ3, KCNS2 +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	PPDPFL, PPP1R16A +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
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	CLDN23, LONRF1 +665 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC126860518, LOC126860519 +1552 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001415, LOC130001416 +1067 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130001139, LOC130001140 +1686 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130001420, LOC130001421 +1204 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	LOC130001371, LOC130001372 +1329 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LINC02894, LINC02906 +1960 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	LOC130001211, LOC130001212 +1690 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130000964, LOC130000965 +1531 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 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130000908, LOC130000909 +1406 more	Copy number gain	See cases	GPathogenic
Select item 144138	GRCh38/hg38 8q24.13-24.21(chr8:122454392-128513076)x3	LOC130001053, LOC130001054 +285 more	Copy number gain	See cases	GPathogenic
Select item 60403	GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1	AARD, ANXA13 +314 more	Copy number loss	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 58997	GRCh38/hg38 8q24.13(chr8:124377953-124575712)x1	LOC129390046, LOC130001073 +11 more	Copy number loss	See cases	GUncertain significance
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 57127	GRCh38/hg38 8q24.13(chr8:124125245-125337217)x3	FER1L6-AS2, LINC00964 +78 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC124188223, LOC124188224 +961 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 83