ClinVar for Gene (Select 23144) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3334078	NM_015117.3(ZC3H3):c.1375G>A (p.Asp459Asn)	ZC3H3 (D459N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334077	NM_015117.3(ZC3H3):c.1465G>T (p.Val489Phe)	ZC3H3 (V489F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334076	NM_015117.3(ZC3H3):c.1700G>C (p.Arg567Pro)	ZC3H3 (R567P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334074	NM_015117.3(ZC3H3):c.2594C>T (p.Ala865Val)	ZC3H3 (A865V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334073	NM_015117.3(ZC3H3):c.2114G>A (p.Arg705Gln)	ZC3H3 (R705Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334072	NM_015117.3(ZC3H3):c.1284G>C (p.Lys428Asn)	ZC3H3 (K428N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334071	NM_015117.3(ZC3H3):c.2552C>T (p.Ala851Val)	ZC3H3 (A851V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334070	NM_015117.3(ZC3H3):c.614T>C (p.Val205Ala)	ZC3H3 (V205A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192373	NM_015117.3(ZC3H3):c.895G>A (p.Val299Met)	ZC3H3 (V299M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192372	NM_015117.3(ZC3H3):c.869G>T (p.Arg290Met)	ZC3H3 (R290M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192371	NM_015117.3(ZC3H3):c.833C>T (p.Ser278Leu)	ZC3H3 (S278L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3192370	NM_015117.3(ZC3H3):c.713G>A (p.Arg238His)	ZC3H3 (R238H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192369	NM_015117.3(ZC3H3):c.690C>G (p.Phe230Leu)	ZC3H3 (F230L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192368	NM_015117.3(ZC3H3):c.653C>T (p.Thr218Ile)	ZC3H3 (T218I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192367	NM_015117.3(ZC3H3):c.649C>T (p.Arg217Trp)	ZC3H3 (R217W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192366	NM_015117.3(ZC3H3):c.552T>G (p.Ser184Arg)	ZC3H3 (S184R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192365	NM_015117.3(ZC3H3):c.530C>G (p.Thr177Arg)	ZC3H3 (T177R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192364	NM_015117.3(ZC3H3):c.2627C>T (p.Ser876Phe)	ZC3H3 (S876F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192363	NM_015117.3(ZC3H3):c.2404C>T (p.Arg802Cys)	ZC3H3 (R802C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192362	NM_015117.3(ZC3H3):c.2366G>A (p.Arg789His)	ZC3H3 (R789H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192360	NM_015117.3(ZC3H3):c.2357C>T (p.Ala786Val)	ZC3H3 (A786V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3192359	NM_015117.3(ZC3H3):c.1934G>A (p.Arg645His)	ZC3H3 (R645H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192357	NM_015117.3(ZC3H3):c.1802A>G (p.Tyr601Cys)	ZC3H3 (Y601C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192356	NM_015117.3(ZC3H3):c.176G>A (p.Arg59Gln)	ZC3H3 (R59Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192355	NM_015117.3(ZC3H3):c.166C>T (p.Arg56Cys)	ZC3H3 (R56C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192354	NM_015117.3(ZC3H3):c.1537C>T (p.Arg513Trp)	ZC3H3 (R513W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192353	NM_015117.3(ZC3H3):c.1312G>T (p.Ala438Ser)	ZC3H3 (A438S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192352	NM_015117.3(ZC3H3):c.1108C>A (p.Pro370Thr)	ZC3H3 (P370T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063034	GRCh37/hg19 8q24.3(chr8:144090414-145900544)x3	ADCK5, ARHGAP39 +63 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 3025140	NM_015117.3(ZC3H3):c.243G>T (p.Pro81=)	ZC3H3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2684561	GRCh37/hg19 8q24.3(chr8:144282591-144740223)x3	EEF1D, GFUS +14 more	Copy number gain	not provided	GUncertain significance
Select item 2684556	GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3	ADCK5, ADGRB1 +95 more	Copy number gain	not provided	GPathogenic
Select item 2658898	NM_015117.3(ZC3H3):c.1554C>G (p.Thr518=)	ZC3H3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658897	NM_015117.3(ZC3H3):c.2405G>A (p.Arg802His)	ZC3H3 (R802H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2658896	NM_015117.3(ZC3H3):c.2748G>C (p.Gln916His)	ZC3H3 (Q916H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2658895	NM_015117.3(ZC3H3):c.2811C>T (p.Asp937=)	ZC3H3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622564	NM_015117.3(ZC3H3):c.292G>C (p.Ala98Pro)	ZC3H3 (A98P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614744	NM_015117.3(ZC3H3):c.1550C>T (p.Pro517Leu)	ZC3H3 (P517L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604536	NM_015117.3(ZC3H3):c.427C>T (p.Arg143Trp)	ZC3H3 (R143W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593166	NM_015117.3(ZC3H3):c.1429C>T (p.Arg477Trp)	ZC3H3 (R477W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592225	NM_015117.3(ZC3H3):c.1877C>T (p.Ala626Val)	ZC3H3 (A626V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592220	NM_015117.3(ZC3H3):c.327T>G (p.His109Gln)	ZC3H3 (H109Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591621	NM_015117.3(ZC3H3):c.2537C>T (p.Ser846Leu)	ZC3H3 (S846L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567085	NM_015117.3(ZC3H3):c.2252G>A (p.Arg751His)	ZC3H3 (R751H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547573	NM_015117.3(ZC3H3):c.496C>T (p.Pro166Ser)	ZC3H3 (P166S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531214	NM_015117.3(ZC3H3):c.281C>T (p.Pro94Leu)	ZC3H3 (P94L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520354	NM_015117.3(ZC3H3):c.235C>T (p.Arg79Trp)	ZC3H3 (R79W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516691	NM_015117.3(ZC3H3):c.1876G>A (p.Ala626Thr)	ZC3H3 (A626T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512434	NM_015117.3(ZC3H3):c.296G>A (p.Arg99Gln)	ZC3H3 (R99Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496242	NM_015117.3(ZC3H3):c.1243C>G (p.Pro415Ala)	ZC3H3 (P415A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492546	NM_015117.3(ZC3H3):c.1888C>T (p.Pro630Ser)	ZC3H3 (P630S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489103	NM_015117.3(ZC3H3):c.1201A>G (p.Lys401Glu)	ZC3H3 (K401E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474894	NM_015117.3(ZC3H3):c.1541C>T (p.Ala514Val)	ZC3H3 (A514V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467075	NM_015117.3(ZC3H3):c.2426C>T (p.Thr809Met)	ZC3H3 (T809M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408760	NM_015117.3(ZC3H3):c.530C>A (p.Thr177Lys)	ZC3H3 (T177K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405054	NM_015117.3(ZC3H3):c.1898G>A (p.Arg633His)	ZC3H3 (R633H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393674	NM_015117.3(ZC3H3):c.1066G>A (p.Asp356Asn)	ZC3H3 (D356N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387527	NM_015117.3(ZC3H3):c.1441G>A (p.Ala481Thr)	ZC3H3 (A481T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375813	NM_015117.3(ZC3H3):c.1889C>T (p.Pro630Leu)	ZC3H3 (P630L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373721	NM_015117.3(ZC3H3):c.638G>A (p.Arg213Gln)	ZC3H3 (R213Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371554	NM_015117.3(ZC3H3):c.1699C>T (p.Arg567Trp)	ZC3H3 (R567W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359726	NM_015117.3(ZC3H3):c.85C>G (p.Pro29Ala)	ZC3H3 (P29A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359722	NM_015117.3(ZC3H3):c.1246T>A (p.Ser416Thr)	ZC3H3 (S416T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356655	NM_015117.3(ZC3H3):c.2393G>A (p.Arg798His)	ZC3H3 (R798H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355231	NM_015117.3(ZC3H3):c.919C>T (p.Arg307Trp)	ZC3H3 (R307W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343168	NM_015117.3(ZC3H3):c.1313C>T (p.Ala438Val)	ZC3H3 (A438V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342441	NM_015117.3(ZC3H3):c.646C>T (p.Arg216Cys)	ZC3H3 (R216C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342140	NM_015117.3(ZC3H3):c.1889C>A (p.Pro630His)	ZC3H3 (P630H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340897	NM_015117.3(ZC3H3):c.1522C>T (p.Arg508Cys)	ZC3H3 (R508C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2334555	NM_015117.3(ZC3H3):c.1288C>T (p.Leu430Phe)	ZC3H3 (L430F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322076	NM_015117.3(ZC3H3):c.1033G>A (p.Ala345Thr)	ZC3H3 (A345T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309511	NM_015117.3(ZC3H3):c.1772C>T (p.Pro591Leu)	ZC3H3 (P591L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306939	NM_015117.3(ZC3H3):c.1523G>A (p.Arg508His)	ZC3H3 (R508H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296191	NM_015117.3(ZC3H3):c.2804C>G (p.Thr935Ser)	ZC3H3 (T935S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293728	NM_015117.3(ZC3H3):c.2050C>T (p.Arg684Cys)	ZC3H3 (R684C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283513	NM_015117.3(ZC3H3):c.2356G>T (p.Ala786Ser)	ZC3H3 (A786S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282794	NM_015117.3(ZC3H3):c.2690C>A (p.Ala897Asp)	ZC3H3 (A897D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280305	NM_015117.3(ZC3H3):c.2552C>G (p.Ala851Gly)	ZC3H3 (A851G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278405	NM_015117.3(ZC3H3):c.422C>T (p.Ala141Val)	ZC3H3 (A141V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2268389	NM_015117.3(ZC3H3):c.1081C>T (p.Pro361Ser)	ZC3H3 (P361S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266773	NM_015117.3(ZC3H3):c.974G>A (p.Arg325Gln)	ZC3H3 (R325Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265898	NM_015117.3(ZC3H3):c.635C>G (p.Pro212Arg)	ZC3H3 (P212R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264862	NM_015117.3(ZC3H3):c.700G>A (p.Ala234Thr)	ZC3H3 (A234T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2264857	NM_015117.3(ZC3H3):c.1514G>A (p.Arg505Gln)	ZC3H3 (R505Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247078	NM_015117.3(ZC3H3):c.965G>C (p.Arg322Pro)	ZC3H3 (R322P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244802	NM_015117.3(ZC3H3):c.1546C>T (p.Leu516Phe)	ZC3H3 (L516F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229021	NM_015117.3(ZC3H3):c.2497C>T (p.Pro833Ser)	ZC3H3 (P833S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2216524	NM_015117.3(ZC3H3):c.2402A>T (p.Lys801Ile)	ZC3H3 (K801I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807792	GRCh37/hg19 8q24.3(chr8:143895666-144568446)x3	CYP11B1, CYP11B2 +12 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 1679863	NM_015117.3(ZC3H3):c.1203G>C (p.Lys401Asn)	ZC3H3 (K401N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1679862	NM_015117.3(ZC3H3):c.1646C>T (p.Ser549Leu)	ZC3H3 (S549L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
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 1454990	NC_000008.10:g.(?_144295143)_(145701139_?)del	ADCK5, BOP1 +52 more	Deletion	Epidermolysis bullosa simplex 5C, with pyloric atresia +5 more	GPathogenic

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