ClinVar for Gene (Select 93474) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3197614	NM_033213.5(ZNF670):c.721C>T (p.Arg241Cys)	ZNF670, ZNF670-ZNF695 (R240C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197613	NM_033213.5(ZNF670):c.547G>A (p.Val183Ile)	ZNF670, ZNF670-ZNF695 (V183I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197612	NM_033213.5(ZNF670):c.265A>G (p.Asn89Asp)	ZNF670, ZNF670-ZNF695 (N89D +1 more)	Single nucleotide variant (missense variant)	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 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 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
Select item 2618705	NM_033213.5(ZNF670):c.352C>T (p.Leu118Phe)	ZNF670, ZNF670-ZNF695 (L117F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615946	NM_033213.5(ZNF670):c.763T>C (p.Cys255Arg)	ZNF670, ZNF670-ZNF695 (C254R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2579272	GRCh38/hg38 1q43-44(chr1:243221458-248919110)x1	LINC01743, LINC02774 +235 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2498455	GRCh37/hg19 1q44(chr1:245704069-249212562)x1	AHCTF1, CNST +58 more	Copy number loss	not provided	GPathogenic
Select item 2481671	NM_033213.5(ZNF670):c.791G>C (p.Arg264Pro)	ZNF670, ZNF670-ZNF695 (R264P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472228	NM_033213.5(ZNF670):c.1142G>A (p.Arg381Gln)	ZNF670, ZNF670-ZNF695 (R381Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467322	NM_033213.5(ZNF670):c.319G>A (p.Val107Met)	ZNF670, ZNF670-ZNF695 (V107M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465277	NM_033213.5(ZNF670):c.341G>A (p.Cys114Tyr)	ZNF670, ZNF670-ZNF695 (C114Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463740	NM_033213.5(ZNF670):c.659C>T (p.Thr220Ile)	ZNF670, ZNF670-ZNF695 (T219I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459619	NM_033213.5(ZNF670):c.337A>G (p.Ile113Val)	ZNF670, ZNF670-ZNF695 (I112V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398654	NM_033213.5(ZNF670):c.1016G>A (p.Cys339Tyr)	ZNF670, ZNF670-ZNF695 (C339Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391054	NM_033213.5(ZNF670):c.140C>T (p.Ser47Leu)	ZNF670, ZNF670-ZNF695 (S47L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366653	NM_033213.5(ZNF670):c.605G>A (p.Cys202Tyr)	ZNF670, ZNF670-ZNF695 (C202Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333086	NM_033213.5(ZNF670):c.370T>G (p.Ser124Ala)	ZNF670, ZNF670-ZNF695 (S124A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309118	NM_033213.5(ZNF670):c.101A>G (p.Gln34Arg)	ZNF670, ZNF670-ZNF695 (Q34R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293579	NM_033213.5(ZNF670):c.380G>C (p.Gly127Ala)	ZNF670, ZNF670-ZNF695 (G126A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280308	NM_033213.5(ZNF670):c.839C>T (p.Pro280Leu)	ZNF670, ZNF670-ZNF695 (P279L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245933	NM_033213.5(ZNF670):c.620A>G (p.Asn207Ser)	ZNF670, ZNF670-ZNF695 (N207S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2243304	NM_033213.5(ZNF670):c.212T>C (p.Leu71Pro)	ZNF670, ZNF670-ZNF695 (L70P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208828	NM_033213.5(ZNF670):c.982G>A (p.Glu328Lys)	ZNF670, ZNF670-ZNF695 (E327K +1 more)	Single nucleotide variant (missense variant)	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	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 1047876	GRCh37/hg19 1q43-44(chr1:240554955-247342593)	AHCTF1, AKT3 +31 more	Copy number loss	Cerebellar vermis hypoplasia +5 more	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +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	CAPN9, CATSPERE +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)	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 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	EGLN1, EIF2D +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 +1427 more	Copy number gain	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 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 +282 more	Copy number loss	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC129932859, LOC129932860 +869 more	Copy number gain	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 151131	GRCh38/hg38 1q43-44(chr1:242045279-248930485)x1	ADSS2, AHCTF1 +243 more	Copy number loss	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 148480	GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1	LOC110121264, LOC110121265 +301 more	Copy number loss	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 148071	GRCh38/hg38 1q43-44(chr1:242932576-248864636)x4	ADSS2, AHCTF1 +230 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 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LOC129932948, LOC129932949 +954 more	Copy number gain	See cases	GPathogenic
Select item 146568	GRCh38/hg38 1q44(chr1:247037209-247101457)x1	ZNF669, ZNF670 +1 more	Copy number loss	See cases	GBenign
Select item 146306	GRCh38/hg38 1q44(chr1:244582123-248918469)x1	AHCTF1, C1orf202 +202 more	Copy number loss	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 145361	GRCh38/hg38 1q43-44(chr1:238753749-248918467)x1	ADSS2, AHCTF1 +277 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 144382	GRCh38/hg38 1q44(chr1:245312815-248918469)x3	AHCTF1, CNST +168 more	Copy number gain	See cases	GPathogenic
Select item 60187	GRCh38/hg38 1q44(chr1:243786629-248918469)x1	LOC129932945, LOC129932946 +226 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 60152	GRCh38/hg38 1q43-44(chr1:241459440-247704671)x1	ADSS2, AHCTF1 +183 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 60150	GRCh38/hg38 1q43-44(chr1:239629868-248924593)x1	ADSS2, AHCTF1 +276 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

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