ZNF692[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1427 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	OR2M4, OR2M5 +1351 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1325 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	ABCB10, ACBD3 +1167 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	LOC129932646, LOC129932647 +967 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LOC129932948, LOC129932949 +954 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC129932666, LOC129932667 +954 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	LOC128772241, LOC128772242 +952 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	SCCPDH, SDCCAG8 +951 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932613, LOC129932614 +949 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	LOC129932775, LOC129932776 +655 more	Copy number gain	See cases	GPathogenic
Select item 148480	GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1	LOC110121264, LOC110121265 +301 more	Copy number loss	See cases	GPathogenic
Select item 154451	GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1	ADSS2, AHCTF1 +282 more	Copy number loss	See cases	GPathogenic
Select item 151321	GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1	ADSS2, AHCTF1 +279 more	Copy number loss	See cases	GPathogenic
Select item 155307	GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1	ADSS2, AHCTF1 +279 more	Copy number loss	See cases	GPathogenic
Select item 144759	GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1	ADSS2, AHCTF1 +278 more	Copy number loss	See cases	GPathogenic
Select item 145361	GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1	ADSS2, AHCTF1 +277 more	Copy number loss	See cases	GPathogenic
Select item 60149	GRCh38/hg38 1q43-44(chr1:239558430-248918469)x1	OR2G3, OR2G6 +276 more	Copy number loss	See cases	GPathogenic
Select item 60150	GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1	ADSS2, AHCTF1 +276 more	Copy number loss	See cases	GPathogenic
Select item 2582785	GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1	SNORA100, SPMIP3 +274 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 58142	GRCh38/hg38 1q43-44(chr1:240244444-248891309)x3	ADSS2, AHCTF1 +273 more	Copy number gain	See cases	GPathogenic
Select item 148185	GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1	ADSS2, AHCTF1 +272 more	Copy number loss	See cases	GPathogenic
Select item 60151	GRCh38/hg38 1q43-44(chr1:241047422-248924593)x1	ADSS2, AHCTF1 +264 more	Copy number loss	See cases	GPathogenic
Select item 60154	GRCh38/hg38 1q43-44(chr1:241757249-248891309)x1	LOC129932958, LOC129932959 +253 more	Copy number loss	See cases	GPathogenic
Select item 151131	GRCh38/hg38 1q43-44(chr1:242045279-248930485)x1	ADSS2, AHCTF1 +243 more	Copy number loss	See cases	GPathogenic
Select item 59654	GRCh38/hg38 1q43-44(chr1:242828731-248891309)x3	ADSS2, AHCTF1 +237 more	Copy number gain	See cases	GPathogenic
Select item 148071	GRCh38/hg38 1q43-44(chr1:242932576-248864636)x4	ADSS2, AHCTF1 +230 more	Copy number gain	See cases	GPathogenic
Select item 2579272	GRCh38/hg38 1q43-44(chr1:243221458-248919110)x1	LINC01743, LINC02774 +235 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 60187	GRCh38/hg38 1q44(chr1:243786629-248918469)x1	LOC129932945, LOC129932946 +226 more	Copy number loss	See cases	GPathogenic
Select item 146306	GRCh38/hg38 1q44(chr1:244582123-248918469)x1	AHCTF1, C1orf202 +202 more	Copy number loss	See cases	GPathogenic
Select item 144382	GRCh38/hg38 1q44(chr1:245312815-248918469)x3	AHCTF1, CNST +168 more	Copy number gain	See cases	GPathogenic
Select item 154353	GRCh38/hg38 1q44(chr1:248804574-248895548)x3	LOC115804255, LOC115804256 +24 more	Copy number gain	See cases	GBenign
Select item 150712	GRCh38/hg38 1q44(chr1:248826567-248918467)x1	LOC115804255, LOC115804256 +17 more	Copy number loss	See cases	GLikely benign
Select item 2398480	NM_017865.4(ZNF692):c.1414C>T (p.Pro472Ser)	ZNF692 (P471S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225383	NM_017865.4(ZNF692):c.1400G>A (p.Arg467His)	ZNF692 (R263H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197760	NM_017865.4(ZNF692):c.1399C>T (p.Arg467Cys)	ZNF692 (R422C +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 788693	NM_017865.4(ZNF692):c.1359C>T (p.Cys453=)	ZNF692	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3197759	NM_017865.4(ZNF692):c.1310G>A (p.Arg437His)	ZNF692 (R233H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225197	NM_017865.4(ZNF692):c.1279C>T (p.Arg427Cys)	ZNF692 (R223C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611597	NM_017865.4(ZNF692):c.1264T>C (p.Cys422Arg)	ZNF692 (C218R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282437	NM_017865.4(ZNF692):c.1264T>A (p.Cys422Ser)	ZNF692 (C422S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537681	NM_017865.4(ZNF692):c.1192T>A (p.Phe398Ile)	ZNF692 (F353I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470077	NM_017865.4(ZNF692):c.1025G>A (p.Arg342Gln)	ZNF692 (R138Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302064	NM_017865.4(ZNF692):c.989G>A (p.Cys330Tyr)	ZNF692 (C335Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218202	NM_017865.4(ZNF692):c.985C>G (p.Pro329Ala)	ZNF692 (P334A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197770	NM_017865.4(ZNF692):c.970A>G (p.Lys324Glu)	ZNF692 (K324E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588817	NM_017865.4(ZNF692):c.862C>G (p.Gln288Glu)	ZNF692 (Q293E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197769	NM_017865.4(ZNF692):c.856G>C (p.Ala286Pro)	ZNF692 (A291P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197768	NM_017865.4(ZNF692):c.805C>T (p.Pro269Ser)	ZNF692 (P268S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245161	NM_017865.4(ZNF692):c.724A>T (p.Thr242Ser)	ZNF692 (T197S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374304	NM_017865.4(ZNF692):c.695C>T (p.Pro232Leu)	ZNF692 (P231L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334768	NM_017865.4(ZNF692):c.676C>T (p.Pro226Ser)	ZNF692 (P225S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197767	NM_017865.4(ZNF692):c.668C>G (p.Pro223Arg)	ZNF692 (P228R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238682	NM_017865.4(ZNF692):c.641A>G (p.Tyr214Cys)	ZNF692 (Y10C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531433	NM_017865.4(ZNF692):c.571G>C (p.Glu191Gln)	ZNF692 (E196Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2209487	NM_017865.4(ZNF692):c.511G>A (p.Ala171Thr)	ZNF692 (A171T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197766	NM_017865.4(ZNF692):c.455C>T (p.Thr152Met)	ZNF692 (T152M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213631	NM_017865.4(ZNF692):c.454A>C (p.Thr152Pro)	ZNF692 (T152P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277185	NM_017865.4(ZNF692):c.406C>T (p.Pro136Ser)	ZNF692 (P136S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197765	NM_017865.4(ZNF692):c.358T>C (p.Phe120Leu)	ZNF692 (F120L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197764	NM_017865.4(ZNF692):c.325G>A (p.Gly109Arg)	ZNF692 (G109R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197763	NM_017865.4(ZNF692):c.301C>T (p.Arg101Trp)	ZNF692 (R101W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197762	NM_017865.4(ZNF692):c.295G>A (p.Gly99Arg)	ZNF692 (G99R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197761	NM_017865.4(ZNF692):c.284G>A (p.Ser95Asn)	ZNF692 (S100N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 623466	NM_017865.4(ZNF692):c.97G>C (p.Gly33Arg)	ZNF692 (G33R +1 more)	Single nucleotide variant (missense variant +1 more)	High myopia	GUncertain significance
Select item 2492826	NM_017865.4(ZNF692):c.28T>A (p.Ser10Thr)	ZNF692 (S10T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381487	NM_017865.4(ZNF692):c.14C>T (p.Pro5Leu)	ZNF692 (P10L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148935	GRCh37/hg19 1q44(chr1:246765135-249224684)x1	AHCTF1, CNST +55 more	Copy number loss	not provided	GUncertain significance
Select item 3063133	GRCh37/hg19 1q43-44(chr1:238681812-249224684)x3	OR2W3, OR6F1 +81 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685965	GRCh37/hg19 1q44(chr1:246983973-249224684)x1	AHCTF1, GCSAML +53 more	Copy number loss	not provided	GUncertain significance
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
Select item 2498455	GRCh37/hg19 1q44(chr1:245704069-249212562)x1	AHCTF1, CNST +58 more	Copy number loss	not provided	GPathogenic
Select item 1809601	Single allele	ADSS2, AHCTF1 +72 more	Deletion	Developmental and epileptic encephalopathy, 54	GLikely pathogenic
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1808659	GRCh37/hg19 1q43-44(chr1:239910960-249224684)x1	ADSS2, AHCTF1 +81 more	Copy number loss	not provided	GPathogenic
Select item 1807822	GRCh37/hg19 1q43-44(chr1:243258050-249224684)x3	ADSS2, AHCTF1 +69 more	Copy number gain	not provided	GPathogenic
Select item 1711168	GRCh37/hg19 1q42.2-44(chr1:233012994-249206918)x1	OR2T12, OR2T2 +109 more	Copy number loss	See cases	GPathogenic
Select item 1710923	GRCh37/hg19 1q44(chr1:246850401-249205263)x3	AHCTF1, GCSAML +54 more	Copy number gain	See cases	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1328437	GRCh37/hg19 1q44(chr1:246820858-249213969)x3	AHCTF1, CNST +55 more	Copy number gain	not provided	GUncertain significance
Select item 980425	GRCh37/hg19 1q44(chr1:246853199-249181899)x1	AHCTF1, GCSAML +53 more	Copy number loss	not provided	GLikely pathogenic
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 689213	GRCh37/hg19 1q43-44(chr1:238669293-249224684)x3	VN1R5, WDR64 +81 more	Copy number gain	not provided	GPathogenic
Select item 687454	GRCh37/hg19 1q44(chr1:246565044-249224684)x1	AHCTF1, CNST +57 more	Copy number loss	not provided	GPathogenic
Select item 685476	GRCh37/hg19 1q42.3-44(chr1:235582580-249224684)x3	ACTN2, ADSS2 +96 more	Copy number gain	not provided	GPathogenic
Select item 685153	GRCh37/hg19 1q44(chr1:244379481-249224684)x1	ADSS2, AHCTF1 +65 more	Copy number loss	not provided	GPathogenic
Select item 625535	GRCh37/hg19 1q44(chr1:245341153-249212429)	AHCTF1, CNST +58 more	Copy number loss	not provided	GLikely pathogenic
Select item 565257	GRCh37/hg19 1q44(chr1:247846257-249224684)x1	LYPD8, OR11L1 +38 more	Copy number loss	not provided	GUncertain significance
Select item 565250	GRCh37/hg19 1q44(chr1:244797639-249224684)x1	AHCTF1, CATSPERE +63 more	Copy number loss	not provided	GPathogenic
Select item 565241	GRCh37/hg19 1q43-44(chr1:241051170-249224684)x1	ADSS2, AHCTF1 +78 more	Copy number loss	not provided	GPathogenic
Select item 565232	GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3	ABCB10, ACTA1 +145 more	Copy number gain	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
Select item 443568	GRCh37/hg19 1q44(chr1:246753355-249224684)x3	AHCTF1, CNST +55 more	Copy number gain	See cases	GUncertain significance
Select item 443102	GRCh37/hg19 1q44(chr1:244197791-249224684)x4	ADSS2, AHCTF1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 442141	GRCh37/hg19 1q44(chr1:248572727-249224684)x3	LYPD8, OR14I1 +14 more	Copy number gain	See cases	GUncertain significance
Select item 441937	GRCh37/hg19 1q42.3-44(chr1:235797384-249224684)x1	ACTN2, ADSS2 +94 more	Copy number loss	See cases	GPathogenic
Select item 441889	GRCh37/hg19 1q43-44(chr1:242324398-249224684)x4	ADSS2, AHCTF1 +70 more	Copy number gain	See cases	GLikely pathogenic

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