ZHX1[gene] - ClinVar

Search results

Items: 91

	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-C8orf76, ZHX1 (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 3391849	GRCh37/hg19 8q23.2-24.3(chr8:111432348-146295771)x3	MROH1, MROH5 +173 more	Copy number gain	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	ANXA13, AARD +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

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Items: 91