ClinVar for Gene (Select 22882) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 118

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3334689	NM_014943.5(ZHX2):c.637G>A (p.Glu213Lys)	ZHX2 (E213K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334688	NM_014943.5(ZHX2):c.2054C>T (p.Thr685Met)	ZHX2 (T685M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334687	NM_014943.5(ZHX2):c.1871G>T (p.Ser624Ile)	ZHX2 (S624I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334686	NM_014943.5(ZHX2):c.469G>A (p.Glu157Lys)	ZHX2 (E157K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334685	NM_014943.5(ZHX2):c.436C>T (p.Arg146Cys)	ZHX2 (R146C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334684	NM_014943.5(ZHX2):c.2482G>A (p.Asp828Asn)	ZHX2 (D828N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334683	NM_014943.5(ZHX2):c.1420G>A (p.Glu474Lys)	ZHX2 (E474K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193541	NM_014943.5(ZHX2):c.893C>T (p.Ala298Val)	ZHX2 (A298V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193540	NM_014943.5(ZHX2):c.728T>G (p.Met243Arg)	ZHX2 (M243R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193539	NM_014943.5(ZHX2):c.704T>A (p.Leu235His)	ZHX2 (L235H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193538	NM_014943.5(ZHX2):c.359A>C (p.Lys120Thr)	ZHX2 (K120T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193537	NM_014943.5(ZHX2):c.2380G>A (p.Val794Met)	ZHX2 (V794M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193536	NM_014943.5(ZHX2):c.2275T>G (p.Cys759Gly)	ZHX2 (C759G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3193535	NM_014943.5(ZHX2):c.2266G>A (p.Ala756Thr)	ZHX2 (A756T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193534	NM_014943.5(ZHX2):c.2227G>A (p.Glu743Lys)	ZHX2 (E743K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193533	NM_014943.5(ZHX2):c.2215G>A (p.Glu739Lys)	ZHX2 (E739K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193532	NM_014943.5(ZHX2):c.2086C>T (p.His696Tyr)	ZHX2 (H696Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193531	NM_014943.5(ZHX2):c.1907G>A (p.Ser636Asn)	ZHX2 (S636N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3193530	NM_014943.5(ZHX2):c.1843G>A (p.Asp615Asn)	ZHX2 (D615N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193529	NM_014943.5(ZHX2):c.1823A>C (p.Asn608Thr)	ZHX2 (N608T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193528	NM_014943.5(ZHX2):c.1733C>T (p.Ser578Leu)	ZHX2 (S578L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193527	NM_014943.5(ZHX2):c.1580A>G (p.Asp527Gly)	ZHX2 (D527G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193525	NM_014943.5(ZHX2):c.1424T>C (p.Val475Ala)	ZHX2 (V475A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193524	NM_014943.5(ZHX2):c.1247C>A (p.Pro416His)	ZHX2 (P416H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193523	NM_014943.5(ZHX2):c.1189G>A (p.Val397Met)	ZHX2 (V397M)	Single nucleotide variant (missense variant)	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	NRBP2, NSMCE2 +173 more	Copy number gain	not provided	GPathogenic
Select item 2658789	NM_014943.5(ZHX2):c.1113C>T (p.Leu371=)	ZHX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658788	NM_014943.5(ZHX2):c.30A>G (p.Pro10=)	ZHX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617936	NM_014943.5(ZHX2):c.1906A>T (p.Ser636Cys)	ZHX2 (S636C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595451	NM_014943.5(ZHX2):c.689G>A (p.Gly230Asp)	ZHX2 (G230D)	Single nucleotide variant (missense variant)	not specified	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	LOC130001241, LOC130001242 +559 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2558723	NM_014943.5(ZHX2):c.1701G>C (p.Lys567Asn)	ZHX2 (K567N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552026	NM_014943.5(ZHX2):c.703C>T (p.Leu235Phe)	ZHX2 (L235F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547485	NM_014943.5(ZHX2):c.1571C>T (p.Ala524Val)	ZHX2 (A524V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484038	NM_014943.5(ZHX2):c.2102A>T (p.Asp701Val)	ZHX2 (D701V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478905	NM_014943.5(ZHX2):c.316C>A (p.Leu106Ile)	ZHX2 (L106I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470181	NM_014943.5(ZHX2):c.1048G>A (p.Ala350Thr)	ZHX2 (A350T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463112	NM_014943.5(ZHX2):c.1301C>A (p.Ala434Asp)	ZHX2 (A434D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458346	NM_014943.5(ZHX2):c.2006G>A (p.Arg669Gln)	ZHX2 (R669Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456040	NM_014943.5(ZHX2):c.2330G>A (p.Arg777Gln)	ZHX2 (R777Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455346	NM_014943.5(ZHX2):c.1526A>T (p.Asp509Val)	ZHX2 (D509V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401235	NM_014943.5(ZHX2):c.2312G>T (p.Arg771Leu)	ZHX2 (R771L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394073	NM_014943.5(ZHX2):c.644C>A (p.Thr215Asn)	ZHX2 (T215N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370724	NM_014943.5(ZHX2):c.1150G>A (p.Gly384Arg)	ZHX2 (G384R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365542	NM_014943.5(ZHX2):c.1751G>A (p.Arg584Gln)	ZHX2 (R584Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359430	NM_014943.5(ZHX2):c.106G>A (p.Gly36Ser)	ZHX2 (G36S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2357021	NM_014943.5(ZHX2):c.331G>A (p.Val111Met)	ZHX2 (V111M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350325	NM_014943.5(ZHX2):c.2116G>A (p.Asp706Asn)	ZHX2 (D706N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333468	NM_014943.5(ZHX2):c.371C>T (p.Ser124Phe)	ZHX2 (S124F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297063	NM_014943.5(ZHX2):c.337G>T (p.Ala113Ser)	ZHX2 (A113S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293404	NM_014943.5(ZHX2):c.1307C>T (p.Pro436Leu)	ZHX2 (P436L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289818	NM_014943.5(ZHX2):c.426G>T (p.Lys142Asn)	ZHX2 (K142N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278564	NM_014943.5(ZHX2):c.1550G>A (p.Arg517Gln)	ZHX2 (R517Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271523	NM_014943.5(ZHX2):c.1652G>A (p.Ser551Asn)	ZHX2 (S551N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259664	NM_014943.5(ZHX2):c.1358A>G (p.His453Arg)	ZHX2 (H453R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257809	NM_014943.5(ZHX2):c.1229T>C (p.Val410Ala)	ZHX2 (V410A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251762	NM_014943.5(ZHX2):c.151C>T (p.Leu51Phe)	ZHX2 (L51F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245372	NM_014943.5(ZHX2):c.1366G>T (p.Ala456Ser)	ZHX2 (A456S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237554	NM_014943.5(ZHX2):c.1091C>T (p.Thr364Met)	ZHX2 (T364M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233276	NM_014943.5(ZHX2):c.2356G>A (p.Glu786Lys)	ZHX2 (E786K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232135	NM_014943.5(ZHX2):c.1937C>T (p.Thr646Met)	ZHX2 (T646M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228325	NM_014943.5(ZHX2):c.1615G>A (p.Gly539Ser)	ZHX2 (G539S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227574	NM_014943.5(ZHX2):c.1063A>G (p.Thr355Ala)	ZHX2 (T355A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209430	NM_014943.5(ZHX2):c.650G>A (p.Arg217His)	ZHX2 (R217H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208852	NM_014943.5(ZHX2):c.1073C>T (p.Thr358Met)	ZHX2 (T358M)	Single nucleotide variant (missense variant)	not specified	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 783842	NM_014943.5(ZHX2):c.1734G>A (p.Ser578=)	ZHX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 783532	NM_014943.5(ZHX2):c.330C>T (p.Tyr110=)	ZHX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 776382	NM_014943.5(ZHX2):c.634G>A (p.Val212Met)	ZHX2 (V212M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 720430	NM_014943.5(ZHX2):c.2044T>C (p.Leu682=)	ZHX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 716977	NM_014943.5(ZHX2):c.1005C>T (p.Asn335=)	ZHX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711503	NM_014943.5(ZHX2):c.2302A>G (p.Thr768Ala)	ZHX2 (T768A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 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
Select item 190257	NM_014943.5(ZHX2):c.1682G>A (p.Arg561Gln)	ZHX2 (R561Q)	Single nucleotide variant (missense variant)	Hirschsprung disease, susceptibility to, 1	GUncertain significance
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 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic

<< First< Prev

Page of 2