ClinVar for Gene (Select 55778) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3478795	NM_018335.6(ZNF839):c.791A>T (p.Tyr264Phe)	ZNF839 (Y264F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3478794	NM_018335.6(ZNF839):c.817G>A (p.Ala273Thr)	ZNF839 (A273T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3478793	NM_018335.6(ZNF839):c.2743G>C (p.Val915Leu)	ZNF839 (V605L +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3478792	NM_018335.6(ZNF839):c.161C>T (p.Pro54Leu)	ZNF839 (P54L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3478791	NM_018335.6(ZNF839):c.700A>T (p.Thr234Ser)	ZNF839 (T118S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3478790	NM_018335.6(ZNF839):c.410A>G (p.Asn137Ser)	ZNF839 (N137S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3478789	NM_018335.6(ZNF839):c.175C>G (p.Pro59Ala)	ZNF839 (P59A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3478788	NM_018335.6(ZNF839):c.920C>T (p.Ser307Phe)	ZNF839 (S307F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3478787	NM_018335.6(ZNF839):c.2627A>G (p.Asn876Ser)	ZNF839 (N755S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3478786	NM_018335.6(ZNF839):c.724A>C (p.Lys242Gln)	ZNF839 (K242Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259757	NM_018335.6(ZNF839):c.1427A>G (p.Gln476Arg)	ZNF839 (Q285R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259756	NM_018335.6(ZNF839):c.2534A>G (p.Asn845Ser)	ZNF839 (N654S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3259755	NM_018335.6(ZNF839):c.1202C>G (p.Ser401Cys)	ZNF839 (S285C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3259754	NM_018335.6(ZNF839):c.705A>C (p.Arg235Ser)	ZNF839 (R235S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259753	NM_018335.6(ZNF839):c.562G>A (p.Val188Ile)	ZNF839 (V72I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259752	NM_018335.6(ZNF839):c.2659A>G (p.Lys887Glu)	ZNF839 (K721E +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3259751	NM_018335.6(ZNF839):c.1070G>A (p.Arg357Gln)	ZNF839 (R241Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3259749	NM_018335.6(ZNF839):c.49G>A (p.Gly17Ser)	LOC130056512, ZNF839 (G17S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3259748	NM_018335.6(ZNF839):c.2780G>A (p.Arg927His)	ZNF839 (R806H +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3259747	NM_018335.6(ZNF839):c.95G>T (p.Arg32Leu)	LOC130056512, ZNF839 (R32L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3259746	NM_018335.6(ZNF839):c.2356A>G (p.Ser786Gly)	ZNF839 (S620G +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3259745	NM_018335.6(ZNF839):c.1985C>T (p.Thr662Met)	ZNF839 (T541M +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3259744	NM_018335.6(ZNF839):c.1091C>T (p.Thr364Met)	ZNF839 (T248M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259743	NM_018335.6(ZNF839):c.2314C>T (p.Leu772Phe)	ZNF839 (L772F +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3259742	NM_018335.6(ZNF839):c.176C>G (p.Pro59Arg)	ZNF839 (P59R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3244018	NC_000014.8:g.(?_102431029)_(103397017_?)dup	AMN, ANKRD9 +9 more	Duplication	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 3242321	GRCh37/hg19 14q32.31-32.33(chr14:101522804-107289470)x1	ADSS1, AHNAK2 +70 more	Copy number loss	not provided	GPathogenic
Select item 3198747	NM_018335.6(ZNF839):c.653C>T (p.Thr218Ile)	ZNF839 (T102I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198746	NM_018335.6(ZNF839):c.62C>G (p.Pro21Arg)	LOC130056512, ZNF839 (P21R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3198745	NM_018335.6(ZNF839):c.5C>G (p.Ala2Gly)	ZNF839 (A2G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3198744	NM_018335.6(ZNF839):c.508T>C (p.Cys170Arg)	ZNF839 (C54R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3198742	NM_018335.6(ZNF839):c.31G>C (p.Gly11Arg)	ZNF839 (G11R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3198741	NM_018335.6(ZNF839):c.284C>T (p.Pro95Leu)	LOC130056513, ZNF839 (P95L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3198740	NM_018335.6(ZNF839):c.2422A>G (p.Ser808Gly)	ZNF839 (S687G +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3198739	NM_018335.6(ZNF839):c.2327G>C (p.Cys776Ser)	ZNF839 (C610S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3198738	NM_018335.6(ZNF839):c.2156A>G (p.Gln719Arg)	ZNF839 (Q603R +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3198736	NM_018335.6(ZNF839):c.1546G>T (p.Ala516Ser)	ZNF839 (A516S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3198735	NM_018335.6(ZNF839):c.1486G>A (p.Val496Met)	ZNF839 (V305M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198734	NM_018335.6(ZNF839):c.136G>C (p.Glu46Gln)	LOC130056512, ZNF839 (E46Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3198733	NM_018335.6(ZNF839):c.1316G>A (p.Arg439His)	ZNF839 (R439H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3198732	NM_018335.6(ZNF839):c.1145G>C (p.Gly382Ala)	ZNF839 (G266A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198731	NM_018335.6(ZNF839):c.1037T>A (p.Val346Glu)	ZNF839 (V346E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063327	GRCh37/hg19 14q32.31-32.33(chr14:102098959-107285437)x1	CLBA1, COA8 +65 more	Copy number loss	not specified	GPathogenic
Select item 3063318	GRCh37/hg19 14q32.2-32.32(chr14:97705251-103682578)x3	AMN, ANKRD9 +54 more	Copy number gain	not specified	GUncertain significance
Select item 3024584	GRCh37/hg19 14q32.31(chr14:102749815-103192843)x3	CINP, MOK +4 more	Copy number gain	not provided	GUncertain significance
Select item 2685500	GRCh37/hg19 14q32.2-32.33(chr14:101024609-107285437)x1	IGHV3-23, INF2 +91 more	Copy number loss	not provided	GPathogenic
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	IFI27L1, IGHA2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2644581	NM_018335.6(ZNF839):c.2586C>T (p.Ser862=)	ZNF839	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2644580	NM_018335.6(ZNF839):c.1014C>T (p.His338=)	ZNF839	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2644579	NM_018335.6(ZNF839):c.829C>T (p.Leu277=)	ZNF839	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2644578	NM_018335.6(ZNF839):c.6G>T (p.Ala2=)	ZNF839	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2595783	NM_018335.6(ZNF839):c.2317G>A (p.Gly773Ser)	ZNF839 (G582S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2579167	GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1	LOC130056644, LOC130056645 +397 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2567829	NM_018335.6(ZNF839):c.1030G>A (p.Glu344Lys)	ZNF839 (E344K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549561	NM_018335.6(ZNF839):c.935G>C (p.Ser312Thr)	ZNF839 (S196T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2539618	NM_018335.6(ZNF839):c.880C>G (p.Gln294Glu)	ZNF839 (Q178E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532818	NM_018335.6(ZNF839):c.1386G>T (p.Arg462Ser)	ZNF839 (R462S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2519152	NM_018335.6(ZNF839):c.1127C>T (p.Ala376Val)	ZNF839 (A260V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495394	NM_018335.6(ZNF839):c.1856A>G (p.Asp619Gly)	ZNF839 (D428G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491535	NM_018335.6(ZNF839):c.118C>A (p.Gln40Lys)	LOC130056512, ZNF839 (Q40K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2487440	NM_018335.6(ZNF839):c.1064C>A (p.Thr355Asn)	ZNF839 (T355N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480321	NM_018335.6(ZNF839):c.44G>A (p.Gly15Asp)	LOC130056512, ZNF839 (G15D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2471175	NM_018335.6(ZNF839):c.1297G>C (p.Glu433Gln)	ZNF839 (E433Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2468345	NM_018335.6(ZNF839):c.2093G>A (p.Arg698Gln)	ZNF839 (R507Q +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2454981	NM_018335.6(ZNF839):c.1721T>C (p.Leu574Pro)	ZNF839 (L383P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2424156	NC_000014.8:g.(?_102228231)_(105861009_?)dup	MOK, NUDT14 +47 more	Duplication	Herpes simplex encephalitis, susceptibility to, 3 +1 more	GUncertain significance
Select item 2424155	NC_000014.8:g.(?_102442029)_(105861009_?)del	ADSS1, AHNAK2 +46 more	Deletion	Charcot-Marie-Tooth disease axonal type 2O	GUncertain significance
Select item 2412237	NM_018335.6(ZNF839):c.1892G>A (p.Arg631Gln)	ZNF839 (R465Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2411497	NM_018335.6(ZNF839):c.176C>A (p.Pro59His)	ZNF839 (P59H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2402298	NM_018335.6(ZNF839):c.1370C>T (p.Ala457Val)	ZNF839 (A341V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2396564	NM_018335.6(ZNF839):c.206T>G (p.Leu69Arg)	LOC130056513, ZNF839 (L69R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2394060	NM_018335.6(ZNF839):c.172C>T (p.Pro58Ser)	ZNF839 (P58S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2392640	NM_018335.6(ZNF839):c.191A>G (p.Asp64Gly)	ZNF839 (D64G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2390890	NM_018335.6(ZNF839):c.185T>A (p.Leu62Gln)	ZNF839 (L62Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2389065	NM_018335.6(ZNF839):c.2368G>A (p.Val790Ile)	ZNF839 (V599I +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2386109	NM_018335.6(ZNF839):c.2021C>T (p.Ala674Val)	ZNF839 (A483V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2385294	NM_018335.6(ZNF839):c.2558T>C (p.Val853Ala)	ZNF839 (V662A +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2363007	NM_018335.6(ZNF839):c.1972G>A (p.Glu658Lys)	ZNF839 (E537K +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2351674	NM_018335.6(ZNF839):c.2212T>G (p.Trp738Gly)	ZNF839 (W622G +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2351673	NM_018335.6(ZNF839):c.1436G>T (p.Arg479Leu)	ZNF839 (R288L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346290	NM_018335.6(ZNF839):c.1435C>T (p.Arg479Trp)	ZNF839 (R288W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344817	NM_018335.6(ZNF839):c.820G>A (p.Asp274Asn)	ZNF839 (D158N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340756	NM_018335.6(ZNF839):c.1522C>A (p.His508Asn)	ZNF839 (H317N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2340397	NM_018335.6(ZNF839):c.2632A>T (p.Ser878Cys)	ZNF839 (S828C +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2338882	NM_018335.6(ZNF839):c.1750G>A (p.Asp584Asn)	ZNF839 (D418N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337439	NM_018335.6(ZNF839):c.2236T>G (p.Phe746Val)	ZNF839 (F625V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2333142	NM_018335.6(ZNF839):c.1391C>T (p.Ser464Leu)	ZNF839 (S348L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2326959	NM_018335.6(ZNF839):c.1963C>T (p.Arg655Cys)	ZNF839 (R534C +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2317575	NM_018335.6(ZNF839):c.754C>T (p.Arg252Trp)	ZNF839 (R136W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302364	NM_018335.6(ZNF839):c.2222T>C (p.Leu741Pro)	ZNF839 (L550P +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2293293	NM_018335.6(ZNF839):c.1219A>G (p.Thr407Ala)	ZNF839 (T407A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2292325	NM_018335.6(ZNF839):c.2482C>T (p.His828Tyr)	ZNF839 (H637Y +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2291417	NM_018335.6(ZNF839):c.2353C>T (p.Pro785Ser)	ZNF839 (P619S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2286130	NM_018335.6(ZNF839):c.911C>T (p.Ser304Leu)	ZNF839 (S188L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283642	NM_018335.6(ZNF839):c.2008A>G (p.Ser670Gly)	ZNF839 (S554G +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2273793	NM_018335.6(ZNF839):c.87C>A (p.Ser29Arg)	LOC130056512, ZNF839 (S29R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2255003	NM_018335.6(ZNF839):c.221A>C (p.Gln74Pro)	LOC130056513, ZNF839 (Q74P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2239053	NM_018335.6(ZNF839):c.2647T>A (p.Ser883Thr)	ZNF839 (S883T +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2232776	NM_018335.6(ZNF839):c.83G>T (p.Gly28Val)	LOC130056512, ZNF839 (G28V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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