ZAN[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 231

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	ACHE, ACTL6B +300 more	Copy number gain	See cases	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +310 more	Copy number loss	See cases	GPathogenic
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	ACHE, ACTL6B +228 more	Copy number loss	See cases	GPathogenic
Select item 149050	GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3	ACHE, ACTL6B +283 more	Copy number gain	See cases	GUncertain significance
Select item 60281	GRCh38/hg38 7q22.1(chr7:100419914-102482826)x1	ACHE, ACTL6B +207 more	Copy number loss	See cases	GPathogenic
Select item 2361902	NM_003386.3(ZAN):c.23T>C (p.Leu8Pro)	ZAN (L8P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610115	NM_003386.3(ZAN):c.50T>A (p.Phe17Tyr)	ZAN (F17Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610116	NM_003386.3(ZAN):c.51C>A (p.Phe17Leu)	ZAN (F17L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2329794	NM_003386.3(ZAN):c.68C>T (p.Pro23Leu)	ZAN (P23L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3191755	NM_003386.3(ZAN):c.89G>A (p.Arg30His)	ZAN (R30H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 516855	NM_003386.3(ZAN):c.146C>T (p.Pro49Leu)	ZAN (P49L)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 3191724	NM_003386.3(ZAN):c.278C>T (p.Ser93Leu)	ZAN (S93L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395303	NM_003386.3(ZAN):c.293G>A (p.Arg98His)	ZAN (R98H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360110	NM_003386.3(ZAN):c.322G>A (p.Asp108Asn)	ZAN (D108N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3191727	NM_003386.3(ZAN):c.337G>A (p.Gly113Ser)	ZAN (G113S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534107	NM_003386.3(ZAN):c.425G>A (p.Gly142Asp)	ZAN (G142D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191736	NM_003386.3(ZAN):c.427C>T (p.Arg143Cys)	ZAN (R143C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333783	NM_003386.3(ZAN):c.428G>A (p.Arg143His)	ZAN (R143H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349642	NM_003386.3(ZAN):c.430C>T (p.Arg144Cys)	ZAN (R144C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322535	NM_003386.3(ZAN):c.562C>A (p.Leu188Met)	ZAN (L188M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462113	NM_003386.3(ZAN):c.611G>A (p.Arg204His)	ZAN (R204H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191747	NM_003386.3(ZAN):c.620T>C (p.Met207Thr)	ZAN (M207T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378336	NM_003386.3(ZAN):c.654C>A (p.Asp218Glu)	ZAN (D218E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2657764	NM_003386.3(ZAN):c.681T>A (p.Thr227=)	ZAN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2458056	NM_003386.3(ZAN):c.683C>T (p.Ala228Val)	ZAN (A228V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478981	NM_003386.3(ZAN):c.713G>C (p.Gly238Ala)	ZAN (G238A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323458	NM_003386.3(ZAN):c.733G>A (p.Val245Met)	ZAN (V245M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191753	NM_003386.3(ZAN):c.815A>G (p.Lys272Arg)	ZAN (K272R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191756	NM_003386.3(ZAN):c.901G>T (p.Ala301Ser)	ZAN (A301S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269284	NM_003386.3(ZAN):c.904G>T (p.Ala302Ser)	ZAN (A302S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191757	NM_003386.3(ZAN):c.912C>A (p.His304Gln)	ZAN (H304Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191713	NM_003386.3(ZAN):c.1007C>G (p.Ala336Gly)	ZAN (A336G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3191714	NM_003386.3(ZAN):c.1010T>A (p.Val337Glu)	ZAN (V337E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361259	NM_003386.3(ZAN):c.1030G>A (p.Val344Met)	ZAN (V344M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617430	NM_003386.3(ZAN):c.1033G>A (p.Val345Ile)	ZAN (V345I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2657765	NM_003386.3(ZAN):c.1103-4C>G	ZAN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2657766	NM_003386.3(ZAN):c.1134C>T (p.Asn378=)	ZAN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2346629	NM_003386.3(ZAN):c.1168G>C (p.Gly390Arg)	ZAN (G390R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191716	NM_003386.3(ZAN):c.1192G>A (p.Gly398Arg)	ZAN (G398R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275407	NM_003386.3(ZAN):c.1208C>T (p.Pro403Leu)	ZAN (P403L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333778	NM_003386.3(ZAN):c.1225C>A (p.Pro409Thr)	ZAN (P409T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191717	NM_003386.3(ZAN):c.1235G>T (p.Gly412Val)	ZAN (G412V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2657767	NM_003386.3(ZAN):c.1278C>T (p.Asp426=)	ZAN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2267107	NM_003386.3(ZAN):c.1318C>T (p.Arg440Trp)	ZAN (R440W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455522	NM_003386.3(ZAN):c.1322C>T (p.Pro441Leu)	ZAN (P441L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303673	NM_003386.3(ZAN):c.1331C>T (p.Ala444Val)	ZAN (A444V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476859	NM_003386.3(ZAN):c.1409G>A (p.Gly470Glu)	ZAN (G470E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265672	NM_003386.3(ZAN):c.1447C>T (p.Arg483Cys)	ZAN (R483C)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2221248	NM_003386.3(ZAN):c.1450G>A (p.Val484Met)	ZAN (V484M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214360	NM_003386.3(ZAN):c.1463G>A (p.Arg488His)	ZAN (R488H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240631	NM_003386.3(ZAN):c.1486G>A (p.Val496Ile)	ZAN (V496I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3333777	NM_003386.3(ZAN):c.1513C>T (p.Pro505Ser)	ZAN (P505S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531675	NM_003386.3(ZAN):c.1532A>C (p.Lys511Thr)	ZAN (K511T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330079	NM_003386.3(ZAN):c.1550A>G (p.Asn517Ser)	ZAN (N517S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191718	NM_003386.3(ZAN):c.1553C>T (p.Thr518Met)	ZAN (T518M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2657768	NM_003386.3(ZAN):c.1638T>C (p.Ser546=)	ZAN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2307758	NM_003386.3(ZAN):c.1639C>G (p.Pro547Ala)	ZAN (P547A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210823	NM_003386.3(ZAN):c.1642G>A (p.Val548Ile)	ZAN (V548I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468290	NM_003386.3(ZAN):c.1735G>A (p.Val579Ile)	ZAN (V579I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468097	NM_003386.3(ZAN):c.1775C>G (p.Thr592Ser)	ZAN (T592S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263869	NM_003386.3(ZAN):c.1838A>T (p.Asn613Ile)	ZAN (N613I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191719	NM_003386.3(ZAN):c.1842G>A (p.Met614Ile)	ZAN (M614I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2351596	NM_003386.3(ZAN):c.1906C>A (p.Pro636Thr)	ZAN (P636T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299522	NM_003386.3(ZAN):c.1959A>C (p.Lys653Asn)	ZAN (K653N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569762	NM_003386.3(ZAN):c.1982C>T (p.Pro661Leu)	ZAN (P661L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333776	NM_003386.3(ZAN):c.2023C>T (p.Pro675Ser)	ZAN (P675S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362575	NM_003386.3(ZAN):c.2047A>T (p.Ser683Cys)	ZAN (S683C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191720	NM_003386.3(ZAN):c.2049C>G (p.Ser683Arg)	ZAN (S683R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191721	NM_003386.3(ZAN):c.2050A>G (p.Ile684Val)	ZAN (I684V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2314817	NM_003386.3(ZAN):c.2100G>A (p.Met700Ile)	ZAN (M700I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2243133	NM_003386.3(ZAN):c.2116T>G (p.Ser706Ala)	ZAN (S706A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611913	NM_003386.3(ZAN):c.2153C>A (p.Thr718Asn)	ZAN (T718N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513415	NM_003386.3(ZAN):c.2156T>A (p.Ile719Asn)	ZAN (I719N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221072	NM_003386.3(ZAN):c.2191T>A (p.Ser731Thr)	ZAN (S731T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1242035	NM_003386.3(ZAN):c.2191T>C (p.Ser731Pro)	ZAN (S731P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2390859	NM_003386.3(ZAN):c.2219C>A (p.Thr740Asn)	ZAN (T740N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374864	NM_003386.3(ZAN):c.2227G>A (p.Glu743Lys)	ZAN (E743K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242738	NM_003386.3(ZAN):c.2233C>G (p.Pro745Ala)	ZAN (P745A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293727	NM_003386.3(ZAN):c.2254C>T (p.Pro752Ser)	ZAN (P752S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191722	NM_003386.3(ZAN):c.2255C>T (p.Pro752Leu)	ZAN (P752L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363406	NM_003386.3(ZAN):c.2263T>A (p.Ser755Thr)	ZAN (S755T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363407	NM_003386.3(ZAN):c.2266C>A (p.Pro756Thr)	ZAN (P756T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2341074	NM_003386.3(ZAN):c.2282C>T (p.Thr761Ile)	ZAN (T761I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 1273425	NM_003386.3(ZAN):c.2318T>C (p.Leu773Pro)	ZAN (L773P)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2352907	NM_003386.3(ZAN):c.2338C>A (p.Pro780Thr)	ZAN (P780T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2657769	NM_003386.3(ZAN):c.2358A>G (p.Lys786=)	ZAN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2657770	NM_003386.3(ZAN):c.2361C>T (p.Pro787=)	ZAN	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2531560	NM_003386.3(ZAN):c.2431T>C (p.Ser811Pro)	ZAN (S811P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2657771	NM_003386.3(ZAN):c.2514C>A (p.Ile838=)	ZAN	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2241326	NM_003386.3(ZAN):c.2522A>G (p.Glu841Gly)	ZAN (E841G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333784	NM_003386.3(ZAN):c.2536C>T (p.Pro846Ser)	ZAN (P846S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333789	NM_003386.3(ZAN):c.2555T>C (p.Ile852Thr)	ZAN (I852T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191723	NM_003386.3(ZAN):c.2582C>A (p.Thr861Lys)	ZAN (T861K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473595	NM_003386.3(ZAN):c.2624C>T (p.Thr875Met)	ZAN (T875M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271733	NM_003386.3(ZAN):c.2820A>C (p.Lys940Asn)	ZAN (K940N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362842	NM_003386.3(ZAN):c.2854C>A (p.Pro952Thr)	ZAN (P952T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2216542	NM_003386.3(ZAN):c.2909C>T (p.Thr970Ile)	ZAN (T970I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476042	NM_003386.3(ZAN):c.2920G>A (p.Glu974Lys)	ZAN (E974K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

<< First< Prev

Page of 3