ZNF778[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 150450	GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3	LOC130059772, LOC130059773 +832 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 58647	GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3	ACSF3, ADAD2 +781 more	Copy number gain	See cases	GPathogenic
Select item 57187	GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3	LOC130059746, LOC130059747 +719 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	LOC130059500, LOC130059501 +691 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	LOC132090448, LOC132090449 +677 more	Copy number gain	See cases	GPathogenic
Select item 147748	GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3	LOC130059591, LOC130059592 +670 more	Copy number gain	See cases	GPathogenic
Select item 58648	GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3	LOC130059691, LOC130059692 +566 more	Copy number gain	See cases	GPathogenic
Select item 148918	GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3	ACSF3, ADAD2 +531 more	Copy number gain	See cases	GLikely pathogenic
Select item 146355	GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3	ACSF3, ADAD2 +534 more	Copy number gain	See cases	GLikely pathogenic
Select item 150862	GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3	ACSF3, ANKRD11 +420 more	Copy number gain	See cases	GPathogenic
Select item 155557	GRCh38/hg38 16q24.1-24.3(chr16:86950106-89335814)x1	ACSF3, ANKRD11 +210 more	Copy number loss	See cases	GPathogenic
Select item 2503467	Single allele	LOC121587566, LOC121587567 +218 more	Deletion	KBG syndrome	GPathogenic
Select item 59520	GRCh38/hg38 16q24.2-24.3(chr16:87306529-89269079)x1	ACSF3, ANKRD11 +196 more	Copy number loss	See cases	GPathogenic
Select item 149103	GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3	ACSF3, ANKRD11 +268 more	Copy number gain	See cases	GLikely pathogenic
Select item 58651	GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3	ACSF3, ANKRD11 +267 more	Copy number gain	See cases	GPathogenic
Select item 59521	GRCh38/hg38 16q24.2-24.3(chr16:88159660-89506042)x1	ACSF3, ANKRD11 +160 more	Copy number loss	See cases	GPathogenic
Select item 2503468	Single allele	LOC130059772, LOC130059773 +138 more	Deletion	KBG syndrome	GPathogenic
Select item 2503469	Single allele	ACSF3, ANKRD11 +116 more	Deletion	KBG syndrome	GPathogenic
Select item 59538	GRCh38/hg38 16q24.2-24.3(chr16:88640116-89530475)x1	LOC130059760, LOC130059761 +129 more	Copy number loss	See cases	GPathogenic
Select item 59539	GRCh38/hg38 16q24.2-24.3(chr16:88662702-89454555)x1	ACSF3, ANKRD11 +113 more	Copy number loss	See cases	GPathogenic
Select item 57288	GRCh38/hg38 16q24.3(chr16:88818756-89413158)x1	ACSF3, ANKRD11 +77 more	Copy number loss	See cases	GPathogenic
Select item 151121	GRCh38/hg38 16q24.3(chr16:89079074-89287677)x3	ACSF3, ANKRD11 +23 more	Copy number gain	See cases	GUncertain significance
Select item 154535	GRCh38/hg38 16q24.3(chr16:89217281-89536982)x1	ANKRD11, LOC100287036 +37 more	Copy number loss	See cases	GPathogenic
Select item 2473590	NM_001201407.2(ZNF778):c.19G>A (p.Ala7Thr)	ZNF778 (A7T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198300	NM_001201407.2(ZNF778):c.45C>G (p.Asp15Glu)	ZNF778 (D15E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198302	NM_001201407.2(ZNF778):c.52T>G (p.Cys18Gly)	ZNF778 (C18G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 712325	NM_001201407.2(ZNF778):c.74A>G (p.Gln25Arg)	ZNF778 (Q25R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3259520	NM_001201407.2(ZNF778):c.107A>G (p.Asn36Ser)	ZNF778 (N36S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198283	NM_001201407.2(ZNF778):c.116A>G (p.Gln39Arg)	ZNF778 (Q39R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234494	NM_001201407.2(ZNF778):c.124G>A (p.Val42Met)	ZNF778 (V42M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399917	NM_001201407.2(ZNF778):c.139G>A (p.Val47Met)	ZNF778 (V47M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259518	NM_001201407.2(ZNF778):c.166T>C (p.Trp56Arg)	ZNF778 (W56R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367972	NM_001201407.2(ZNF778):c.173T>C (p.Leu58Ser)	ZNF778 (L58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3198295	NM_001201407.2(ZNF778):c.252C>G (p.His84Gln)	ZNF778 (H84Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 252567	NM_001201407.2(ZNF778):c.275A>G (p.Tyr92Cys)	ZNF778 (Y92C)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 2376185	NM_001201407.2(ZNF778):c.287A>G (p.Gln96Arg)	ZNF778 (Q96R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3259516	NM_001201407.2(ZNF778):c.317C>T (p.Ala106Val)	ZNF778 (A106V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 59541	GRCh38/hg38 16q24.3(chr16:89225411-89530534)x1	ANKRD11, LOC100287036 +35 more	Copy number loss	See cases	GPathogenic
Select item 3259510	NM_001201407.2(ZNF778):c.329A>C (p.Glu110Ala)	ZNF778 (E110A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198297	NM_001201407.2(ZNF778):c.335G>T (p.Arg112Leu)	ZNF778 (R84L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198296	NM_001201407.2(ZNF778):c.335G>A (p.Arg112Gln)	ZNF778 (R112Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473315	NM_001201407.2(ZNF778):c.362G>A (p.Arg121Gln)	ZNF778 (R93Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331487	NM_001201407.2(ZNF778):c.385G>A (p.Ala129Thr)	ZNF778 (A101T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3198298	NM_001201407.2(ZNF778):c.398C>T (p.Thr133Ile)	ZNF778 (T105I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198299	NM_001201407.2(ZNF778):c.409A>G (p.Arg137Gly)	ZNF778 (R109G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259507	NM_001201407.2(ZNF778):c.440G>A (p.Arg147His)	ZNF778 (R119H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214516	NM_001201407.2(ZNF778):c.466G>A (p.Glu156Lys)	ZNF778 (E128K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546054	NM_001201407.2(ZNF778):c.478C>G (p.Leu160Val)	ZNF778 (L132V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521849	NM_001201407.2(ZNF778):c.490G>A (p.Val164Met)	ZNF778 (V136M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198301	NM_001201407.2(ZNF778):c.506C>T (p.Thr169Ile)	ZNF778 (T141I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338497	NM_001201407.2(ZNF778):c.508G>C (p.Gly170Arg)	ZNF778 (G170R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609789	NM_001201407.2(ZNF778):c.527A>C (p.Asn176Thr)	ZNF778 (N176T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365975	NM_001201407.2(ZNF778):c.607T>C (p.Cys203Arg)	ZNF778 (C175R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198303	NM_001201407.2(ZNF778):c.652G>A (p.Ala218Thr)	ZNF778 (A190T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2345869	NM_001201407.2(ZNF778):c.658A>C (p.Thr220Pro)	ZNF778 (T220P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304763	NM_001201407.2(ZNF778):c.658A>G (p.Thr220Ala)	ZNF778 (T192A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335513	NM_001201407.2(ZNF778):c.662G>A (p.Arg221Gln)	ZNF778 (R221Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263599	NM_001201407.2(ZNF778):c.673C>G (p.Leu225Val)	ZNF778 (L197V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198304	NM_001201407.2(ZNF778):c.692G>C (p.Gly231Ala)	ZNF778 (G203A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323962	NM_001201407.2(ZNF778):c.728G>A (p.Arg243His)	ZNF778 (R243H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306010	NM_001201407.2(ZNF778):c.769C>A (p.Pro257Thr)	ZNF778 (P229T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198305	NM_001201407.2(ZNF778):c.770C>T (p.Pro257Leu)	ZNF778 (P257L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259522	NM_001201407.2(ZNF778):c.779A>G (p.Lys260Arg)	ZNF778 (K232R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259515	NM_001201407.2(ZNF778):c.784C>G (p.Leu262Val)	ZNF778 (L234V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 708197	NM_001201407.2(ZNF778):c.828C>T (p.Ala276=)	ZNF778	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2209231	NM_001201407.2(ZNF778):c.844G>A (p.Val282Ile)	ZNF778 (V254I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198306	NM_001201407.2(ZNF778):c.854A>C (p.Glu285Ala)	ZNF778 (E285A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259517	NM_001201407.2(ZNF778):c.869T>C (p.Phe290Ser)	ZNF778 (F290S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471988	NM_001201407.2(ZNF778):c.878C>G (p.Thr293Ser)	ZNF778 (T265S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2647048	NM_001201407.2(ZNF778):c.896G>A (p.Arg299His)	ZNF778 (R271H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2383941	NM_001201407.2(ZNF778):c.896G>T (p.Arg299Leu)	ZNF778 (R299L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198307	NM_001201407.2(ZNF778):c.925T>A (p.Cys309Ser)	ZNF778 (C281S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383942	NM_001201407.2(ZNF778):c.956C>G (p.Pro319Arg)	ZNF778 (P319R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341245	NM_001201407.2(ZNF778):c.965C>T (p.Ser322Phe)	ZNF778 (S322F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461491	NM_001201407.2(ZNF778):c.995C>A (p.Ala332Asp)	ZNF778 (A304D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2647049	NM_001201407.2(ZNF778):c.996T>C (p.Ala332=)	ZNF778	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2464771	NM_001201407.2(ZNF778):c.1000G>A (p.Glu334Lys)	ZNF778 (E306K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480977	NM_001201407.2(ZNF778):c.1027G>A (p.Gly343Arg)	ZNF778 (G343R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198280	NM_001201407.2(ZNF778):c.1085A>G (p.Gln362Arg)	ZNF778 (Q362R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198281	NM_001201407.2(ZNF778):c.1090C>T (p.Pro364Ser)	ZNF778 (P364S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469980	NM_001201407.2(ZNF778):c.1094A>G (p.Tyr365Cys)	ZNF778 (Y337C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198282	NM_001201407.2(ZNF778):c.1133A>G (p.Tyr378Cys)	ZNF778 (Y350C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354157	NM_001201407.2(ZNF778):c.1148A>G (p.His383Arg)	ZNF778 (H383R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602769	NM_001201407.2(ZNF778):c.1160A>G (p.His387Arg)	ZNF778 (H387R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2251347	NM_001201407.2(ZNF778):c.1195G>A (p.Gly399Arg)	ZNF778 (G371R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198284	NM_001201407.2(ZNF778):c.1272C>G (p.Ser424Arg)	ZNF778 (S424R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402285	NM_001201407.2(ZNF778):c.1283A>G (p.Lys428Arg)	ZNF778 (K400R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259513	NM_001201407.2(ZNF778):c.1286C>T (p.Ala429Val)	ZNF778 (A429V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469436	NM_001201407.2(ZNF778):c.1291A>G (p.Thr431Ala)	ZNF778 (T403A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410456	NM_001201407.2(ZNF778):c.1297C>T (p.Arg433Cys)	ZNF778 (R405C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3198285	NM_001201407.2(ZNF778):c.1298G>A (p.Arg433His)	ZNF778 (R405H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380559	NM_001201407.2(ZNF778):c.1301G>A (p.Cys434Tyr)	ZNF778 (C406Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381145	NM_001201407.2(ZNF778):c.1313G>A (p.Arg438Lys)	ZNF778 (R438K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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