ClinVar for Gene (Select 7678) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3334915	NM_001297568.2(ZNF124):c.449A>G (p.Tyr150Cys)	ZNF124 (Y88C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334914	NM_001297568.2(ZNF124):c.613C>G (p.Pro205Ala)	ZNF124 (P143A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3193976	NM_001297568.2(ZNF124):c.1014A>C (p.Lys338Asn)	ZNF124 (K276N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3193975	NM_001297568.2(ZNF124):c.889A>G (p.Lys297Glu)	ZNF124 (K235E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3193974	NM_001297568.2(ZNF124):c.710T>C (p.Met237Thr)	ZNF124 (M175T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3193973	NM_001297568.2(ZNF124):c.566G>A (p.Arg189His)	ZNF124 (R127H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3193972	NM_001297568.2(ZNF124):c.414G>C (p.Gln138His)	ZNF124 (Q138H +1 more)	Single nucleotide variant (missense variant +2 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 2640241	NM_001297568.2(ZNF124):c.169dup (p.Glu57fs)	ZNF124 (E57fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2582785	GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1	ADSS2, AHCTF1 +275 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2579272	GRCh38/hg38 1q43-44(chr1:243221458-248919110)x1	TRIM58, TRL-CAA4-1 +236 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2529443	NM_001297568.2(ZNF124):c.174C>A (p.Asp58Glu)	ZNF124 (D58E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528707	NM_001297568.2(ZNF124):c.737T>C (p.Leu246Pro)	ZNF124 (L246P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2511910	NM_001297568.2(ZNF124):c.604G>A (p.Gly202Arg)	ZNF124 (G202R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2498455	GRCh37/hg19 1q44(chr1:245704069-249212562)x1	AHCTF1, CNST +58 more	Copy number loss	not provided	GPathogenic
Select item 2482320	NM_001297568.2(ZNF124):c.977C>T (p.Ala326Val)	ZNF124 (A264V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2472240	NM_001297568.2(ZNF124):c.986G>A (p.Arg329His)	ZNF124 (R267H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2469881	NM_001297568.2(ZNF124):c.529C>T (p.Arg177Cys)	ZNF124 (R177C +1 more)	Single nucleotide variant (intron variant +2 more)	not specified	GUncertain significance
Select item 2457648	NM_001297568.2(ZNF124):c.647G>A (p.Arg216His)	ZNF124 (R216H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2368518	NM_001297568.2(ZNF124):c.621A>C (p.Glu207Asp)	ZNF124 (E145D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2357046	NM_001297568.2(ZNF124):c.820G>A (p.Ala274Thr)	ZNF124 (A274T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2333236	NM_001297568.2(ZNF124):c.488G>A (p.Arg163His)	ZNF124 (R163H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2315081	NM_001297568.2(ZNF124):c.689G>T (p.Gly230Val)	ZNF124 (G230V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2288608	NM_001297568.2(ZNF124):c.782C>G (p.Pro261Arg)	ZNF124 (P261R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2280306	NM_001297568.2(ZNF124):c.646C>T (p.Arg216Cys)	ZNF124 (R154C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2274923	NM_001297568.2(ZNF124):c.209G>A (p.Arg70Lys)	ZNF124 (R70K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232840	NM_001297568.2(ZNF124):c.943G>A (p.Glu315Lys)	ZNF124 (E253K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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	COA6, COG2 +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 1047876	GRCh37/hg19 1q43-44(chr1:240554955-247342593)	ADSS2, AHCTF1 +31 more	Copy number loss	Global developmental delay +5 more	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	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 980424	GRCh37/hg19 1q44(chr1:247060259-247332499)x3	ZNF669, LINC02897 +4 more	Copy number gain	not provided	GLikely benign
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 814204	GRCh37/hg19 1q44(chr1:247089676-247411806)x3	ZNF124, ZNF669 +4 more	Copy number gain	not provided	GUncertain significance
Select item 791149	NM_001297568.2(ZNF124):c.819C>A (p.Tyr273Ter)	ZNF124 (Y273* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GBenign
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 687072	GRCh37/hg19 1q44(chr1:247089709-247416754)x3	AHCTF1, LINC02897 +4 more	Copy number gain	not provided	GUncertain significance
Select item 685533	GRCh37/hg19 1q44(chr1:247032527-248071583)x3	AHCTF1, GCSAML +19 more	Copy number gain	not provided	GUncertain significance
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 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	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 565256	GRCh37/hg19 1q44(chr1:246708791-247417037)x3	CNST, AHCTF1 +7 more	Copy number gain	not provided	GLikely benign
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 549578	NC_000001.11:g.246924924_247245758dup	AHCTF1, FLJ39095 +18 more	Duplication	Primary amenorrhea	GLikely benign
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 442983	GRCh37/hg19 1q44(chr1:244281222-247789907)x3	ADSS2, AHCTF1 +24 more	Copy number gain	See cases	GUncertain significance
Select item 442726	GRCh37/hg19 1q43-44(chr1:240620284-247690417)x1	ADSS2, AHCTF1 +35 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
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
Select item 441866	GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3	ABCB10, ACBD3 +184 more	Copy number gain	See cases	GPathogenic
Select item 395294	GRCh37/hg19 1q43-44(chr1:242656460-249213000)x3	ADSS2, CATSPERE +70 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 393997	GRCh37/hg19 1q42.2-44(chr1:231670870-249213000)x3	GCSAML, GGPS1 +114 more	Copy number gain	See cases	GPathogenic
Select item 253636	GRCh37/hg19 1q42.2-44(chr1:234050864-249213059)x3	ACTN2, ADSS2 +105 more	Copy number gain	See cases	GPathogenic
Select item 253547	GRCh37/hg19 1q43-44(chr1:243103401-249119318)x1	OR2L2, OR2L8 +66 more	Copy number loss	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 155307	GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1	ADSS2, AHCTF1 +280 more	Copy number loss	See cases	GPathogenic
Select item 154859	GRCh38/hg38 1q44(chr1:246961051-247245763)x3	FLJ39095, LINC02897 +14 more	Copy number gain	See cases	GLikely benign
Select item 154451	GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1	ADSS2, AHCTF1 +283 more	Copy number loss	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 151321	GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1	ADSS2, AHCTF1 +280 more	Copy number loss	See cases	GPathogenic
Select item 151131	GRCh38/hg38 1q43-44(chr1:242045279-248930485)x1	ADSS2, AHCTF1 +244 more	Copy number loss	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 148480	GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1	ACTN2, ADSS2 +302 more	Copy number loss	See cases	GPathogenic
Select item 148185	GRCh38/hg38 1q43-44(chr1:240465122-248918469)x1	ADSS2, AHCTF1 +273 more	Copy number loss	See cases	GPathogenic
Select item 148071	GRCh38/hg38 1q43-44(chr1:242932576-248864636)x4	ADSS2, AHCTF1 +231 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	ABCB10, ACTA1 +656 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 146306	GRCh38/hg38 1q44(chr1:244582123-248918469)x1	AHCTF1, C1orf202 +203 more	Copy number loss	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 145361	GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1	ADSS2, AHCTF1 +278 more	Copy number loss	See cases	GPathogenic
Select item 144759	GRCh38/hg38 1q43-44(chr1:238351121-248918469)x1	ADSS2, AHCTF1 +279 more	Copy number loss	See cases	GPathogenic
Select item 144382	GRCh38/hg38 1q44(chr1:245312815-248918469)x3	AHCTF1, CNST +169 more	Copy number gain	See cases	GPathogenic
Select item 60187	GRCh38/hg38 1q44(chr1:243786629-248918469)x1	ADSS2, AHCTF1 +227 more	Copy number loss	See cases	GPathogenic
Select item 60154	GRCh38/hg38 1q43-44(chr1:241757249-248891309)x1	OR2T34, OR2T35 +254 more	Copy number loss	See cases	GPathogenic
Select item 60152	GRCh38/hg38 1q43-44(chr1:241459440-247704671)x1	ADSS2, AHCTF1 +184 more	Copy number loss	See cases	GPathogenic
Select item 60151	GRCh38/hg38 1q43-44(chr1:241047422-248924593)x1	ADSS2, AHCTF1 +265 more	Copy number loss	See cases	GPathogenic
Select item 60150	GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1	ADSS2, AHCTF1 +277 more	Copy number loss	See cases	GPathogenic
Select item 60149	GRCh38/hg38 1q43-44(chr1:239558430-248918469)x1	LOC132088686, LOC440742 +277 more	Copy number loss	See cases	GPathogenic
Select item 59654	GRCh38/hg38 1q43-44(chr1:242828731-248891309)x3	TFB2M, TRE-CTC2-1 +238 more	Copy number gain	See cases	GPathogenic
Select item 58142	GRCh38/hg38 1q43-44(chr1:240244444-248891309)x3	KMO, LINC01341 +274 more	Copy number gain	See cases	GPathogenic

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