HHLA1[gene] - ClinVar

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Items: 92

	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 144285	GRCh38/hg38 8q24.22(chr8:131770098-132203964)x3	EFR3A, HHLA1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 2252977	NM_001145095.3(HHLA1):c.1535G>T (p.Arg512Met)	HHLA1 (R512M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401569	NM_001145095.3(HHLA1):c.1463A>G (p.Asp488Gly)	HHLA1 (D488G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540082	NM_001145095.3(HHLA1):c.1352C>T (p.Ala451Val)	HHLA1 (A451V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399017	NM_001145095.3(HHLA1):c.1338G>T (p.Lys446Asn)	HHLA1 (K446N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297179	NM_001145095.3(HHLA1):c.1291G>A (p.Val431Ile)	HHLA1 (V431I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2386797	NM_001145095.3(HHLA1):c.1246C>T (p.Leu416Phe)	HHLA1 (L416F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205708	NM_001145095.3(HHLA1):c.1087G>A (p.Ala363Thr)	HHLA1 (A363T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2658820	NM_001145095.3(HHLA1):c.1080C>T (p.Thr360=)	HHLA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2271565	NM_001145095.3(HHLA1):c.994G>A (p.Val332Met)	HHLA1 (V332M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2241617	NM_001145095.3(HHLA1):c.994G>T (p.Val332Leu)	HHLA1 (V332L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471092	NM_001145095.3(HHLA1):c.989C>T (p.Ser330Leu)	HHLA1 (S330L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2373899	NM_001145095.3(HHLA1):c.913C>G (p.Leu305Val)	HHLA1 (L305V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275376	NM_001145095.3(HHLA1):c.880G>T (p.Ala294Ser)	HHLA1 (A294S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462154	NM_001145095.3(HHLA1):c.754G>A (p.Gly252Arg)	HHLA1 (G252R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2370801	NM_001145095.3(HHLA1):c.692G>T (p.Gly231Val)	HHLA1 (G231V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302385	NM_001145095.3(HHLA1):c.598C>T (p.Leu200Phe)	HHLA1 (L200F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609351	NM_001145095.3(HHLA1):c.560T>C (p.Ile187Thr)	HHLA1 (I187T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538976	NM_001145095.3(HHLA1):c.470A>G (p.Asp157Gly)	HHLA1 (D157G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326774	NM_001145095.3(HHLA1):c.408G>T (p.Arg136Ser)	HHLA1 (R136S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534028	NM_001145095.3(HHLA1):c.388C>T (p.Pro130Ser)	HHLA1 (P130S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317229	NM_001145095.3(HHLA1):c.285C>A (p.Ser95Arg)	HHLA1 (S95R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509002	NM_001145095.3(HHLA1):c.229G>A (p.Ala77Thr)	HHLA1 (A77T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353845	NM_001145095.3(HHLA1):c.208G>T (p.Ala70Ser)	HHLA1 (A70S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216796	NM_001145095.3(HHLA1):c.194C>T (p.Thr65Met)	HHLA1 (T65M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279942	NM_001145095.3(HHLA1):c.59T>C (p.Val20Ala)	HHLA1 (V20A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360347	NM_001145095.3(HHLA1):c.19C>T (p.Arg7Cys)	HHLA1 (R7C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063051	GRCh37/hg19 8q24.22(chr8:132812615-133245950)x3	EFR3A, HHLA1 +2 more	Copy number gain	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 2578018	GRCh37/hg19 8q24.21-24.3(chr8:131138343-143473913)	ADCY8, AGO2 +29 more	Copy number gain	Distal trisomy 8q	GPathogenic
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 1807928	GRCh37/hg19 8q24.22(chr8:132732273-133269561)x3	EFR3A, HHLA1 +2 more	Copy number gain	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 1527466	GRCh37/hg19 8q24.22(chr8:132812614-133245950)	EFR3A, HHLA1 +2 more	Copy number gain	not specified	GUncertain significance
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 1340996	GRCh37/hg19 8q24.22(chr8:133034258-133130502)x1	HHLA1, OC90	Copy number loss	not provided	GUncertain significance
Select item 1340321	GRCh37/hg19 8q24.22(chr8:133055346-133267468)x3	OC90, HHLA1 +1 more	Copy number gain	not provided	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 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 687690	GRCh37/hg19 8q24.22(chr8:132588071-133169753)x3	EFR3A, HHLA1 +2 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 685928	GRCh37/hg19 8q24.22(chr8:132812544-133251797)x3	EFR3A, HHLA1 +2 more	Copy number gain	not provided	GUncertain significance
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 563555	GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3	ADCK5, ADCY8 +151 more	Copy number gain	not provided	GPathogenic
Select item 446358	GRCh37/hg19 8q24.22(chr8:132005210-133698781)x3	ADCY8, DNAAF11 +4 more	Copy number gain	See cases	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 441947	GRCh37/hg19 8q24.21-24.22(chr8:131025817-133947836)x3	EFR3A, HHLA1 +10 more	Copy number gain	See cases	GUncertain significance
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 394662	GRCh37/hg19 8q24.21-24.22(chr8:128295596-133200773)x1	ADCY8, ASAP1 +10 more	Copy number loss	See cases	GLikely pathogenic

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Items: 92