ClinVar for Gene (Select 57116) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3392267	GRCh37/hg19 1q44(chr1:246426364-249224684)x1	AHCTF1, CNST +57 more	Copy number loss	not provided	GUncertain significance
Select item 3391981	GRCh37/hg19 1q44(chr1:245977251-248636952)x3	AHCTF1, CNST +43 more	Copy number gain	not provided	GUncertain significance
Select item 3391873	GRCh37/hg19 1q43-44(chr1:243204376-249224684)x1	ADSS2, AHCTF1 +69 more	Copy number loss	not provided	GPathogenic
Select item 3259226	NM_020394.5(ZNF695):c.755G>T (p.Cys252Phe)	ZNF670-ZNF695, ZNF695 (C252F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259224	NM_020394.5(ZNF695):c.1250T>C (p.Phe417Ser)	ZNF670-ZNF695, ZNF695 (F417S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259223	NM_020394.5(ZNF695):c.598A>T (p.Thr200Ser)	ZNF670-ZNF695, ZNF695 (T200S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259222	NM_020394.5(ZNF695):c.604C>G (p.Gln202Glu)	ZNF670-ZNF695, ZNF695 (Q202E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197785	NM_020394.5(ZNF695):c.869A>G (p.His290Arg)	ZNF670-ZNF695, ZNF695 (H290R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197784	NM_020394.5(ZNF695):c.803A>C (p.Tyr268Ser)	ZNF670-ZNF695, ZNF695 (Y268S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197783	NM_020394.5(ZNF695):c.689G>A (p.Cys230Tyr)	ZNF670-ZNF695, ZNF695 (C230Y)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3197782	NM_020394.5(ZNF695):c.661T>A (p.Phe221Ile)	ZNF670-ZNF695, ZNF695 (F221I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197781	NM_020394.5(ZNF695):c.425A>G (p.Asn142Ser)	ZNF670-ZNF695, ZNF695 (N142S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197780	NM_020394.5(ZNF695):c.407G>A (p.Gly136Glu)	ZNF670-ZNF695, ZNF695 (G136E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197779	NM_020394.5(ZNF695):c.167G>A (p.Ser56Asn)	ZNF670-ZNF695, ZNF695 (S56N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3197778	NM_020394.5(ZNF695):c.1489T>C (p.Cys497Arg)	ZNF670-ZNF695, ZNF695 (C497R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197777	NM_020394.5(ZNF695):c.146A>G (p.Asn49Ser)	ZNF670-ZNF695, ZNF695 (N49S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197776	NM_020394.5(ZNF695):c.1463G>A (p.Arg488Lys)	ZNF670-ZNF695, ZNF695 (R488K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197775	NM_020394.5(ZNF695):c.1384A>G (p.Lys462Glu)	ZNF670-ZNF695, ZNF695 (K462E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197774	NM_020394.5(ZNF695):c.1213C>A (p.Gln405Lys)	ZNF670-ZNF695, ZNF695 (Q405K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197773	NM_020394.5(ZNF695):c.1201A>T (p.Ile401Phe)	ZNF670-ZNF695, ZNF695 (I401F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197772	NM_020394.5(ZNF695):c.1162G>A (p.Ala388Thr)	ZNF670-ZNF695, ZNF695 (A388T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197771	NM_020394.5(ZNF695):c.1058G>A (p.Arg353Gln)	ZNF670-ZNF695, ZNF695 (R353Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 2685976	GRCh37/hg19 1q44(chr1:247167077-247221647)x1	ZNF670, ZNF695	Copy number loss	not provided	GUncertain significance
Select item 2685965	GRCh37/hg19 1q44(chr1:246983973-249224684)x1	AHCTF1, GCSAML +53 more	Copy number loss	not provided	GUncertain significance
Select item 2685846	GRCh37/hg19 1q44(chr1:246815052-247133893)x3	AHCTF1, CNST +2 more	Copy number gain	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 2601465	NM_020394.5(ZNF695):c.1488A>C (p.Glu496Asp)	ZNF670-ZNF695, ZNF695 (E496D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599952	NM_020394.5(ZNF695):c.1019C>G (p.Thr340Ser)	ZNF670-ZNF695, ZNF695 (T340S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590334	NM_020394.5(ZNF695):c.988G>A (p.Gly330Ser)	ZNF670-ZNF695, ZNF695 (G330S)	Single nucleotide variant (missense variant +1 more)	not specified	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 2579286	GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1	ACTN2, ADSS2 +271 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 2559568	NM_020394.5(ZNF695):c.953A>G (p.His318Arg)	ZNF670-ZNF695, ZNF695 (H318R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522266	NM_020394.5(ZNF695):c.814G>C (p.Glu272Gln)	ZNF670-ZNF695, ZNF695 (E272Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507856	NM_020394.5(ZNF695):c.353G>A (p.Cys118Tyr)	ZNF670-ZNF695, ZNF695 (C118Y)	Single nucleotide variant (non-coding transcript variant +1 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 2490038	NM_020394.5(ZNF695):c.1013A>G (p.Tyr338Cys)	ZNF670-ZNF695, ZNF695 (Y338C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486972	NM_020394.5(ZNF695):c.328A>G (p.Met110Val)	ZNF670-ZNF695, ZNF695 (M110V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2478624	NM_020394.5(ZNF695):c.28G>A (p.Ala10Thr)	ZNF670-ZNF695, ZNF695 (A10T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2467662	NM_020394.5(ZNF695):c.229G>A (p.Val77Met)	ZNF670-ZNF695, ZNF695 (V77M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2461612	NM_020394.5(ZNF695):c.581G>C (p.Cys194Ser)	ZNF670-ZNF695, ZNF695 (C194S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458844	NM_020394.5(ZNF695):c.725G>C (p.Cys242Ser)	ZNF670-ZNF695, ZNF695 (C242S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388805	NM_020394.5(ZNF695):c.877G>C (p.Glu293Gln)	ZNF670-ZNF695, ZNF695 (E293Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377699	NM_020394.5(ZNF695):c.925C>T (p.Pro309Ser)	ZNF670-ZNF695, ZNF695 (P309S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376638	NM_020394.5(ZNF695):c.857A>T (p.His286Leu)	ZNF670-ZNF695, ZNF695 (H286L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354146	NM_020394.5(ZNF695):c.468T>G (p.Phe156Leu)	ZNF670-ZNF695, ZNF695 (F156L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343570	NM_020394.5(ZNF695):c.668A>G (p.Glu223Gly)	ZNF670-ZNF695, ZNF695 (E223G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342398	NM_020394.5(ZNF695):c.560A>G (p.Lys187Arg)	ZNF670-ZNF695, ZNF695 (K187R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335911	NM_020394.5(ZNF695):c.59G>A (p.Cys20Tyr)	ZNF670-ZNF695, ZNF695 (C20Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2334355	NM_020394.5(ZNF695):c.883C>G (p.Pro295Ala)	ZNF670-ZNF695, ZNF695 (P295A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278231	NM_020394.5(ZNF695):c.1100T>G (p.Leu367Arg)	ZNF670-ZNF695, ZNF695 (L367R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273621	NM_020394.5(ZNF695):c.484G>A (p.Val162Met)	ZNF670-ZNF695, ZNF695 (V162M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224524	NM_020394.5(ZNF695):c.99G>A (p.Met33Ile)	ZNF670-ZNF695, ZNF695 (M33I)	Single nucleotide variant (non-coding transcript variant +1 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 1808697	GRCh37/hg19 1q43-44(chr1:243085543-247137125)x3	ADSS2, AHCTF1 +16 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 980428	GRCh37/hg19 1q44(chr1:246826117-247232960)x3	SCCPDH, ZNF695 +3 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 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 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 686163	GRCh37/hg19 1q44(chr1:246821058-247265403)x3	AHCTF1, CNST +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 443567	GRCh37/hg19 1q44(chr1:246594705-247245220)x3	AHCTF1, CNST +5 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

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