ZHX1[gene] - ClinVar

Search results

Items: 90

	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 57126	GRCh38/hg38 8q24.13(chr8:122751607-123361569)x3	ATAD2, C8orf76 +51 more	Copy number gain	See cases	GPathogenic
Select item 2611383	NM_007222.5(ZHX1):c.2596C>T (p.Arg866Trp)	ZHX1, ZHX1-C8orf76 (R866W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3334678	NM_007222.5(ZHX1):c.2378A>G (p.Lys793Arg)	ZHX1, ZHX1-C8orf76 (K793R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2526439	NM_007222.5(ZHX1):c.2282G>C (p.Arg761Thr)	ZHX1, ZHX1-C8orf76 (R761T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3334675	NM_007222.5(ZHX1):c.2269C>T (p.Arg757Cys)	ZHX1, ZHX1-C8orf76 (R757C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2466120	NM_007222.5(ZHX1):c.2251C>T (p.Arg751Trp)	ZHX1, ZHX1-C8orf76 (R751W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3193518	NM_007222.5(ZHX1):c.2237G>A (p.Gly746Glu)	ZHX1, ZHX1-C8orf76 (G746E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2550428	NM_007222.5(ZHX1):c.1967C>G (p.Pro656Arg)	ZHX1, ZHX1-C8orf76 (P656R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3193517	NM_007222.5(ZHX1):c.1963G>T (p.Ala655Ser)	ZHX1, ZHX1-C8orf76 (A655S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3193516	NM_007222.5(ZHX1):c.1952A>G (p.Asp651Gly)	ZHX1, ZHX1-C8orf76 (D651G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2493436	NM_007222.5(ZHX1):c.1775T>C (p.Val592Ala)	ZHX1, ZHX1-C8orf76 (V592A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3193515	NM_007222.5(ZHX1):c.1765A>T (p.Asn589Tyr)	ZHX1, ZHX1-C8orf76 (N589Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3334682	NM_007222.5(ZHX1):c.1634A>G (p.Glu545Gly)	ZHX1, ZHX1-C8orf76 (E545G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3193513	NM_007222.5(ZHX1):c.1511C>T (p.Thr504Met)	ZHX1, ZHX1-C8orf76 (T504M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2459696	NM_007222.5(ZHX1):c.1493T>C (p.Met498Thr)	ZHX1, ZHX1-C8orf76 (M498T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3193512	NM_007222.5(ZHX1):c.1475C>T (p.Ser492Leu)	ZHX1, ZHX1-C8orf76 (S492L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3334679	NM_007222.5(ZHX1):c.1469A>G (p.His490Arg)	ZHX1, ZHX1-C8orf76 (H490R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3334681	NM_007222.5(ZHX1):c.1352A>G (p.Gln451Arg)	ZHX1, ZHX1-C8orf76 (Q451R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2395150	NM_007222.5(ZHX1):c.1325C>T (p.Pro442Leu)	ZHX1, ZHX1-C8orf76 (P442L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2211772	NM_007222.5(ZHX1):c.1309A>G (p.Thr437Ala)	ZHX1, ZHX1-C8orf76 (T437A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2358523	NM_007222.5(ZHX1):c.1300G>A (p.Ala434Thr)	ZHX1, ZHX1-C8orf76 (A434T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2681654	NM_007222.5(ZHX1):c.1140T>C (p.Gly380=)	ZHX1, ZHX1-C8orf76	Single nucleotide variant (synonymous variant +2 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 3334673	NM_007222.5(ZHX1):c.955G>A (p.Ala319Thr)	ZHX1, ZHX1-C8orf76 (A319T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2217869	NM_007222.5(ZHX1):c.931A>G (p.Met311Val)	ZHX1, ZHX1-C8orf76 (M311V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2210144	NM_007222.5(ZHX1):c.851A>G (p.Asn284Ser)	ZHX1, ZHX1-C8orf76 (N284S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3334680	NM_007222.5(ZHX1):c.835G>A (p.Val279Ile)	ZHX1, ZHX1-C8orf76 (V279I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2605285	NM_007222.5(ZHX1):c.730C>A (p.Pro244Thr)	ZHX1, ZHX1-C8orf76 (P244T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2313353	NM_007222.5(ZHX1):c.712A>G (p.Ile238Val)	ZHX1, ZHX1-C8orf76 (I238V)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2258343	NM_007222.5(ZHX1):c.703A>G (p.Ser235Gly)	ZHX1, ZHX1-C8orf76 (S235G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3334674	NM_007222.5(ZHX1):c.693A>C (p.Glu231Asp)	ZHX1, ZHX1-C8orf76 (E231D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2538085	NM_007222.5(ZHX1):c.647C>G (p.Pro216Arg)	ZHX1, ZHX1-C8orf76 (P216R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3193522	NM_007222.5(ZHX1):c.511G>A (p.Val171Ile)	ZHX1, ZHX1-C8orf76 (V171I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2255677	NM_007222.5(ZHX1):c.484A>T (p.Asn162Tyr)	ZHX1, ZHX1-C8orf76 (N162Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3334677	NM_007222.5(ZHX1):c.472G>A (p.Val158Ile)	ZHX1, ZHX1-C8orf76 (V158I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2319787	NM_007222.5(ZHX1):c.442A>G (p.Ile148Val)	ZHX1, ZHX1-C8orf76 (I148V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3334676	NM_007222.5(ZHX1):c.413G>A (p.Arg138His)	ZHX1, ZHX1-C8orf76 (R138H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3193521	NM_007222.5(ZHX1):c.272C>T (p.Ser91Leu)	ZHX1, ZHX1-C8orf76 (S91L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3193519	NM_007222.5(ZHX1):c.226A>C (p.Thr76Pro)	ZHX1, ZHX1-C8orf76 (T76P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3193514	NM_007222.5(ZHX1):c.164C>T (p.Ser55Phe)	ZHX1, ZHX1-C8orf76 (S55F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2302551	NM_007222.5(ZHX1):c.158A>G (p.His53Arg)	ZHX1, ZHX1-C8orf76 (H53R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2479609	NM_007222.5(ZHX1):c.110C>T (p.Pro37Leu)	ZHX1, ZHX1-C8orf76 (P37L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3193520	NM_007222.5(ZHX1):c.26C>T (p.Thr9Ile)	ZHX1, ZHX1-C8orf76 (T9I)	Single nucleotide variant (missense variant +2 more)	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	GSDMC, LY6D +173 more	Copy number gain	not provided	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 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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 90