26306[HGNC] - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 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 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 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 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 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 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 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 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 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 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 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 60403	GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1	AARD, ANXA13 +315 more	Copy number loss	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC130001070, LOC130001071 +962 more	Copy number gain	See cases	GPathogenic
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 144138	GRCh38/hg38 8q24.13-24.21(chr8:122454392-128513076)x3	ANXA13, ATAD2 +286 more	Copy number gain	See cases	GPathogenic
Select item 3092714	NM_144963.4(FAM91A1):c.128G>A (p.Arg43His)	FAM91A1 (R43H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3092716	NM_144963.4(FAM91A1):c.140G>A (p.Arg47Gln)	FAM91A1 (R47Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2605247	NM_144963.4(FAM91A1):c.182G>A (p.Arg61His)	FAM91A1 (R61H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2371250	NM_144963.4(FAM91A1):c.191A>G (p.Tyr64Cys)	FAM91A1 (Y64C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3092721	NM_144963.4(FAM91A1):c.275T>C (p.Ile92Thr)	FAM91A1 (I92T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2593870	NM_144963.4(FAM91A1):c.503C>T (p.Ala168Val)	FAM91A1 (A168V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2491609	NM_144963.4(FAM91A1):c.606A>T (p.Gln202His)	FAM91A1 (Q202H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3092722	NM_144963.4(FAM91A1):c.856G>A (p.Val286Ile)	FAM91A1 (V286I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355283	NM_144963.4(FAM91A1):c.872G>A (p.Arg291Gln)	FAM91A1 (R49Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245956	NM_144963.4(FAM91A1):c.1010A>C (p.Glu337Ala)	FAM91A1 (E337A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776384	NM_144963.4(FAM91A1):c.1278+6T>C	FAM91A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2530204	NM_144963.4(FAM91A1):c.1289C>T (p.Thr430Ile)	FAM91A1 (T430I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092715	NM_144963.4(FAM91A1):c.1327C>T (p.Leu443Phe)	FAM91A1 (L201F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294968	NM_144963.4(FAM91A1):c.1364A>G (p.Asn455Ser)	FAM91A1 (N213S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532380	NM_144963.4(FAM91A1):c.1423G>A (p.Asp475Asn)	FAM91A1 (D475N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275346	NM_144963.4(FAM91A1):c.1526A>G (p.Asn509Ser)	FAM91A1 (N509S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209419	NM_144963.4(FAM91A1):c.1534C>T (p.Arg512Trp)	FAM91A1 (R270W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092717	NM_144963.4(FAM91A1):c.1579C>G (p.Pro527Ala)	FAM91A1 (P285A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305028	NM_144963.4(FAM91A1):c.1697G>A (p.Ser566Asn)	FAM91A1 (S324N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308745	NM_144963.4(FAM91A1):c.1706G>A (p.Arg569Gln)	FAM91A1 (R569Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257671	NM_144963.4(FAM91A1):c.1766C>T (p.Thr589Met)	FAM91A1 (T347M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289058	NM_144963.4(FAM91A1):c.1813C>T (p.His605Tyr)	FAM91A1 (H363Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277569	NM_144963.4(FAM91A1):c.1877A>C (p.Gln626Pro)	FAM91A1 (Q384P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092718	NM_144963.4(FAM91A1):c.1891C>T (p.Arg631Cys)	FAM91A1 (R389C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373807	NM_144963.4(FAM91A1):c.2017G>T (p.Ala673Ser)	FAM91A1 (A673S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783533	NM_144963.4(FAM91A1):c.2110A>G (p.Ile704Val)	FAM91A1 (I704V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3277570	NM_144963.4(FAM91A1):c.2111T>C (p.Ile704Thr)	FAM91A1 (I462T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262554	NM_144963.4(FAM91A1):c.2167C>G (p.Leu723Val)	FAM91A1 (L481V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369448	NM_144963.4(FAM91A1):c.2213G>A (p.Arg738Gln)	FAM91A1 (R496Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2605999	NM_144963.4(FAM91A1):c.2233G>C (p.Ala745Pro)	FAM91A1 (A503P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092719	NM_144963.4(FAM91A1):c.2321A>G (p.His774Arg)	FAM91A1 (H532R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658793	NM_144963.4(FAM91A1):c.2364G>T (p.Glu788Asp)	FAM91A1 (E546D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3092720	NM_144963.4(FAM91A1):c.2473C>T (p.Arg825Trp)	FAM91A1 (R583W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245610	NC_000008.10:g.(?_124515613)_(126379127_?)del	ANXA13, FAM91A1 +13 more	Deletion	not provided	GPathogenic
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	GML, KCNQ3 +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 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 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	TATDN1, TMEM65 +8 more	Duplication	not provided	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 992643	GRCh37/hg19 8q24.12-24.13(chr8:121938227-125485728)x1	ANXA13, ATAD2 +16 more	Copy number loss	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	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 687511	GRCh37/hg19 8q24.13(chr8:124443708-125305582)x1	ANXA13, FAM91A1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +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 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	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 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

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Items: 86