ClinVar for Gene (Select 84985) - ClinVar

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Links from Gene

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2616602	NM_001394396.1(FAM83A):c.1103G>T (p.Arg368Leu)	FAM83A (R368L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2594776	NM_001394396.1(FAM83A):c.850G>C (p.Glu284Gln)	FAM83A (E284Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2558358	NM_001394396.1(FAM83A):c.168G>C (p.Gln56His)	FAM83A (Q56H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550102	NM_001394396.1(FAM83A):c.538G>C (p.Glu180Gln)	FAM83A (E180Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2507725	NM_001394396.1(FAM83A):c.353T>A (p.Leu118Gln)	FAM83A (L118Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458538	NM_001394396.1(FAM83A):c.40C>G (p.Leu14Val)	FAM83A (L14V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389010	NM_001394396.1(FAM83A):c.84C>A (p.Asp28Glu)	FAM83A (D28E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374406	NM_001394396.1(FAM83A):c.481G>A (p.Val161Ile)	FAM83A (V161I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2340537	NM_001394396.1(FAM83A):c.755T>C (p.Val252Ala)	FAM83A (V252A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277151	NM_001394396.1(FAM83A):c.1009G>T (p.Gly337Cys)	FAM83A (G337C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260714	NM_001394396.1(FAM83A):c.865C>T (p.Leu289Phe)	FAM83A (L289F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251983	NM_001394396.1(FAM83A):c.318C>A (p.Phe106Leu)	FAM83A (F106L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241720	NM_001394396.1(FAM83A):c.263C>T (p.Ala88Val)	FAM83A (A88V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221377	NM_001394396.1(FAM83A):c.665G>A (p.Ser222Asn)	FAM83A (S166N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216062	NM_001394396.1(FAM83A):c.38G>A (p.Arg13His)	FAM83A (R13H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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	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 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	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
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 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 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 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130000867, LOC130000868 +1686 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 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 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 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1329 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 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 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 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	ANXA13, ATAD2 +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	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 57126	GRCh38/hg38 8q24.13(chr8:122751607-123361569)x3	ATAD2, C8orf76 +50 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

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Links from Gene

Items: 64