ClinVar for Gene (Select 730051) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3259674	NM_001144989.2(ZNF814):c.2550C>A (p.His850Gln)	ZNF814 (H850Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259673	NM_001144989.2(ZNF814):c.1201G>A (p.Val401Ile)	ZNF814 (V401I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259672	NM_001144989.2(ZNF814):c.1312T>A (p.Cys438Ser)	ZNF814 (C438S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259671	NM_001144989.2(ZNF814):c.1066G>A (p.Glu356Lys)	ZNF814 (E356K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259670	NM_001144989.2(ZNF814):c.1786C>T (p.Arg596Cys)	ZNF814 (R596C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259669	NM_001144989.2(ZNF814):c.707T>C (p.Leu236Pro)	ZNF814 (L236P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259667	NM_001144989.2(ZNF814):c.1484G>A (p.Gly495Glu)	ZNF814 (G495E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259666	NM_001144989.2(ZNF814):c.701G>C (p.Arg234Thr)	ZNF814 (R234T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259665	NM_001144989.2(ZNF814):c.1666T>A (p.Ser556Thr)	ZNF814 (S556T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259664	NM_001144989.2(ZNF814):c.341A>G (p.His114Arg)	ZNF814 (H114R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259663	NM_001144989.2(ZNF814):c.1499C>G (p.Ser500Cys)	ZNF814 (S500C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259662	NM_001144989.2(ZNF814):c.38G>T (p.Gly13Val)	ZNF814 (G13V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234528	NM_001144989.2(ZNF814):c.960G>A (p.Gly320=)	ZNF814	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3198604	NM_001144989.2(ZNF814):c.623A>C (p.Gln208Pro)	ZNF814 (Q208P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198603	NM_001144989.2(ZNF814):c.620T>C (p.Ile207Thr)	ZNF814 (I207T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198602	NM_001144989.2(ZNF814):c.532G>A (p.Asp178Asn)	ZNF814 (D178N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198601	NM_001144989.2(ZNF814):c.440C>T (p.Pro147Leu)	ZNF814 (P147L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198600	NM_001144989.2(ZNF814):c.2325T>G (p.Ser775Arg)	ZNF814 (S775R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198599	NM_001144989.2(ZNF814):c.2213A>G (p.His738Arg)	ZNF814 (H738R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198598	NM_001144989.2(ZNF814):c.2153G>A (p.Cys718Tyr)	ZNF814 (C718Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198597	NM_001144989.2(ZNF814):c.2150C>T (p.Ala717Val)	ZNF814 (A717V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198596	NM_001144989.2(ZNF814):c.2091T>G (p.Phe697Leu)	ZNF814 (F697L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198595	NM_001144989.2(ZNF814):c.191C>T (p.Ala64Val)	ZNF814 (A64V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198594	NM_001144989.2(ZNF814):c.1724C>A (p.Ser575Tyr)	ZNF814 (S575Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198593	NM_001144989.2(ZNF814):c.1703G>A (p.Arg568Gln)	ZNF814 (R568Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198591	NM_001144989.2(ZNF814):c.1367G>A (p.Arg456Gln)	ZNF814 (R456Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198590	NM_001144989.2(ZNF814):c.131C>T (p.Thr44Met)	ZNF814 (T44M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3198589	NM_001144989.2(ZNF814):c.1171A>C (p.Lys391Gln)	ZNF814 (K391Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198588	NM_001144989.2(ZNF814):c.1115G>C (p.Arg372Thr)	ZNF814 (R372T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025435	NM_001144989.2(ZNF814):c.996G>A (p.Ser332=)	ZNF814	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2684896	GRCh37/hg19 19q13.43(chr19:58186264-58449066)x3	ZNF154, ZNF417 +10 more	Copy number gain	not provided	GUncertain significance
Select item 2684895	GRCh37/hg19 19q13.43(chr19:58034484-58421498)x3	ZIK1, ZNF134 +16 more	Copy number gain	not provided	GUncertain significance
Select item 2650578	NM_001144989.2(ZNF814):c.912C>G (p.Ser304=)	ZNF814	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650577	NC_000019.10:g.57868473G>A	ZNF814	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 2618706	NM_001144989.2(ZNF814):c.278C>T (p.Pro93Leu)	ZNF814 (P93L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616936	NM_001144989.2(ZNF814):c.2281G>T (p.Val761Phe)	ZNF814 (V761F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606466	NM_001144989.2(ZNF814):c.629G>A (p.Gly210Glu)	ZNF814 (G210E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569215	NM_001144989.2(ZNF814):c.220C>A (p.Gln74Lys)	ZNF814 (Q74K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552141	NM_001144989.2(ZNF814):c.2308A>G (p.Lys770Glu)	ZNF814 (K770E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549191	NM_001144989.2(ZNF814):c.2553G>T (p.Trp851Cys)	ZNF814 (W851C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546911	NM_001144989.2(ZNF814):c.292G>A (p.Gly98Ser)	ZNF814 (G98S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539808	NM_001144989.2(ZNF814):c.926T>G (p.Val309Gly)	ZNF814 (V309G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531269	NM_001144989.2(ZNF814):c.2072G>T (p.Arg691Met)	ZNF814 (R691M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527919	NM_001144989.2(ZNF814):c.1622T>C (p.Ile541Thr)	ZNF814 (I541T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526592	NM_001144989.2(ZNF814):c.2375G>A (p.Arg792Lys)	ZNF814 (R792K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513395	NM_001144989.2(ZNF814):c.531G>C (p.Lys177Asn)	ZNF814 (K177N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481154	NM_001144989.2(ZNF814):c.1195C>G (p.Gln399Glu)	ZNF814 (Q399E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475650	NM_001144989.2(ZNF814):c.859C>T (p.His287Tyr)	ZNF814 (H287Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475605	NM_001144989.2(ZNF814):c.296C>T (p.Pro99Leu)	ZNF814 (P99L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470522	NM_001144989.2(ZNF814):c.1173A>T (p.Lys391Asn)	ZNF814 (K391N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464280	NM_001144989.2(ZNF814):c.1870C>T (p.Arg624Cys)	ZNF814 (R624C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405250	NM_001144989.2(ZNF814):c.121C>T (p.Arg41Cys)	ZNF814 (R41C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394921	NM_001144989.2(ZNF814):c.2235A>C (p.Glu745Asp)	ZNF814 (E745D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393187	NM_001144989.2(ZNF814):c.2377G>A (p.Val793Ile)	ZNF814 (V793I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392277	NM_001144989.2(ZNF814):c.1768C>T (p.His590Tyr)	ZNF814 (H590Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392243	NM_001144989.2(ZNF814):c.2349A>C (p.Glu783Asp)	ZNF814 (E783D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383850	NM_001144989.2(ZNF814):c.1762A>G (p.Ile588Val)	ZNF814 (I588V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375474	NM_001144989.2(ZNF814):c.1556C>G (p.Pro519Arg)	ZNF814 (P519R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373838	NM_001144989.2(ZNF814):c.1219C>G (p.His407Asp)	ZNF814 (H407D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369021	NM_001144989.2(ZNF814):c.2142G>C (p.Lys714Asn)	ZNF814 (K714N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363660	NM_001144989.2(ZNF814):c.1079C>A (p.Ser360Tyr)	ZNF814 (S360Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360281	NM_001144989.2(ZNF814):c.1693C>G (p.Leu565Val)	ZNF814 (L565V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354261	NM_001144989.2(ZNF814):c.1378G>A (p.Gly460Arg)	ZNF814 (G460R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330715	NM_001144989.2(ZNF814):c.1612C>T (p.His538Tyr)	ZNF814 (H538Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299579	NM_001144989.2(ZNF814):c.1384A>G (p.Arg462Gly)	ZNF814 (R462G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278301	NM_001144989.2(ZNF814):c.1280A>G (p.Gln427Arg)	ZNF814 (Q427R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273707	NM_001144989.2(ZNF814):c.654A>T (p.Glu218Asp)	ZNF814 (E218D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273706	NM_001144989.2(ZNF814):c.647G>A (p.Cys216Tyr)	ZNF814 (C216Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273705	NM_001144989.2(ZNF814):c.646T>C (p.Cys216Arg)	ZNF814 (C216R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271321	NM_001144989.2(ZNF814):c.2226G>C (p.Arg742Ser)	ZNF814 (R742S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249291	NM_001144989.2(ZNF814):c.1688T>G (p.Leu563Arg)	ZNF814 (L563R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234305	NM_001144989.2(ZNF814):c.2269T>C (p.Ser757Pro)	ZNF814 (S757P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230498	NM_001144989.2(ZNF814):c.2078G>A (p.Cys693Tyr)	ZNF814 (C693Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229142	NM_001144989.2(ZNF814):c.1186A>G (p.Ser396Gly)	ZNF814 (S396G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224097	NM_001144989.2(ZNF814):c.1376C>T (p.Ala459Val)	ZNF814 (A459V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213293	NM_001144989.2(ZNF814):c.1498T>C (p.Ser500Pro)	ZNF814 (S500P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809241	GRCh37/hg19 19q13.43(chr19:58308819-58395831)x1	ZNF552, ZNF587 +2 more	Copy number loss	not provided	GUncertain significance
Select item 689096	GRCh37/hg19 19q13.43(chr19:58369898-58590859)x3	C19orf18, ZNF135 +7 more	Copy number gain	not provided	GUncertain significance
Select item 688389	GRCh37/hg19 19q13.43(chr19:58092045-58686148)x3	C19orf18, ZIK1 +21 more	Copy number gain	not provided	GUncertain significance
Select item 688241	GRCh37/hg19 19q13.43(chr19:58054819-58410552)x3	ZIK1, ZNF134 +14 more	Copy number gain	not provided	GUncertain significance
Select item 687845	GRCh37/hg19 19q13.43(chr19:58369898-58590924)x3	C19orf18, ZNF135 +7 more	Copy number gain	not provided	GUncertain significance
Select item 685397	GRCh37/hg19 19q13.43(chr19:57952073-58661581)x3	C19orf18, VN1R1 +29 more	Copy number gain	not provided	GUncertain significance
Select item 564606	GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3	ZNF548, ZNF549 +157 more	Copy number gain	not provided	GPathogenic
Select item 564595	GRCh37/hg19 19q13.43(chr19:57891243-58536930)x3	ZNF814, ZSCAN4 +27 more	Copy number gain	not provided	GLikely benign
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442403	GRCh37/hg19 19q13.43(chr19:56706500-58956888)x3	A1BG, AURKC +64 more	Copy number gain	See cases	GUncertain significance
Select item 441022	NM_001144989.2(ZNF814):c.1892del (p.Pro631fs)	ZNF814 (P631fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 153557	GRCh38/hg38 19q13.43(chr19:56353449-58445521)x3	A1BG, A1BG-AS1 +179 more	Copy number gain	See cases	GUncertain significance
Select item 152853	GRCh38/hg38 19q13.43(chr19:57546443-57889946)x3	LOC125384550, LOC126862946 +37 more	Copy number gain	See cases	GUncertain significance
Select item 150291	GRCh38/hg38 19q13.43(chr19:57712726-57952004)x3	LOC125384550, LOC126862947 +23 more	Copy number gain	See cases	GLikely benign
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 59128	GRCh38/hg38 19q13.43(chr19:56363208-58581203)x3	A1BG, A1BG-AS1 +215 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic

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