ClinVar for Gene (Select 79894) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3259136	NM_024836.3(ZNF672):c.934G>C (p.Ala312Pro)	ZNF672 (A312P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3259135	NM_024836.3(ZNF672):c.1244G>A (p.Arg415Gln)	ZNF672 (R415Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259134	NM_024836.3(ZNF672):c.956G>C (p.Arg319Pro)	ZNF672 (R319P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259133	NM_024836.3(ZNF672):c.1268C>T (p.Ala423Val)	ZNF672 (A423V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259132	NM_024836.3(ZNF672):c.1018C>T (p.Arg340Cys)	ZNF672 (R340C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259130	NM_024836.3(ZNF672):c.1343G>T (p.Gly448Val)	ZNF672 (G448V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197630	NM_024836.3(ZNF672):c.88C>G (p.Leu30Val)	ZNF672 (L30V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197629	NM_024836.3(ZNF672):c.800G>A (p.Ser267Asn)	ZNF672 (S267N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197628	NM_024836.3(ZNF672):c.668G>A (p.Gly223Glu)	ZNF672 (G223E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197627	NM_024836.3(ZNF672):c.458G>A (p.Gly153Glu)	ZNF672 (G153E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197626	NM_024836.3(ZNF672):c.289C>T (p.Arg97Cys)	ZNF672 (R97C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197625	NM_024836.3(ZNF672):c.16G>C (p.Gly6Arg)	ZNF672 (G6R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197624	NM_024836.3(ZNF672):c.1202G>A (p.Gly401Asp)	ZNF672 (G401D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197623	NM_024836.3(ZNF672):c.1201G>A (p.Gly401Ser)	ZNF672 (G401S)	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 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 2681675	NM_024836.3(ZNF672):c.625G>C (p.Gly209Arg)	ZNF672 (G209R)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2608166	NM_024836.3(ZNF672):c.8C>T (p.Ala3Val)	ZNF672 (A3V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601228	NM_024836.3(ZNF672):c.101G>A (p.Arg34Gln)	ZNF672 (R34Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596531	NM_024836.3(ZNF672):c.977T>C (p.Leu326Pro)	ZNF672 (L326P)	Single nucleotide variant (missense variant)	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 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 2558568	NM_024836.3(ZNF672):c.1214G>C (p.Ser405Thr)	ZNF672 (S405T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550256	NM_024836.3(ZNF672):c.644C>T (p.Thr215Met)	ZNF672 (T215M)	Single nucleotide variant (missense variant)	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 2495499	NM_024836.3(ZNF672):c.776A>C (p.Asp259Ala)	ZNF672 (D259A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454742	NM_024836.3(ZNF672):c.871G>A (p.Gly291Ser)	ZNF672 (G291S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411001	NM_024836.3(ZNF672):c.605G>A (p.Gly202Asp)	ZNF672 (G202D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382501	NM_024836.3(ZNF672):c.377G>A (p.Arg126Gln)	ZNF672 (R126Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356702	NM_024836.3(ZNF672):c.119G>T (p.Gly40Val)	ZNF672 (G40V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355725	NM_024836.3(ZNF672):c.952C>T (p.Arg318Cys)	ZNF672 (R318C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353925	NM_024836.3(ZNF672):c.482C>T (p.Pro161Leu)	ZNF672 (P161L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342606	NM_024836.3(ZNF672):c.889G>A (p.Asp297Asn)	ZNF672 (D297N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341008	NM_024836.3(ZNF672):c.278G>A (p.Arg93Gln)	ZNF672 (R93Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334786	NM_024836.3(ZNF672):c.1258G>A (p.Ala420Thr)	ZNF672 (A420T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333950	NM_024836.3(ZNF672):c.766G>T (p.Ala256Ser)	ZNF672 (A256S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324511	NM_024836.3(ZNF672):c.208T>C (p.Tyr70His)	ZNF672 (Y70H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313681	NM_024836.3(ZNF672):c.226G>A (p.Gly76Arg)	ZNF672 (G76R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304580	NM_024836.3(ZNF672):c.469G>T (p.Asp157Tyr)	ZNF672 (D157Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291728	NM_024836.3(ZNF672):c.411C>G (p.Phe137Leu)	ZNF672 (F137L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291446	NM_024836.3(ZNF672):c.1267G>A (p.Ala423Thr)	ZNF672 (A423T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287042	NM_024836.3(ZNF672):c.734A>G (p.His245Arg)	ZNF672 (H245R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284610	NM_024836.3(ZNF672):c.497C>T (p.Ala166Val)	ZNF672 (A166V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275610	NM_024836.3(ZNF672):c.496G>A (p.Ala166Thr)	ZNF672 (A166T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2266040	NM_024836.3(ZNF672):c.1242G>C (p.Gln414His)	ZNF672 (Q414H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244269	NM_024836.3(ZNF672):c.319C>T (p.Arg107Cys)	ZNF672 (R107C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228680	NM_024836.3(ZNF672):c.109G>A (p.Gly37Ser)	ZNF672 (G37S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220202	NM_024836.3(ZNF672):c.1124C>T (p.Ala375Val)	ZNF672 (A375V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210072	NM_024836.3(ZNF672):c.524G>T (p.Gly175Val)	ZNF672 (G175V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206414	NM_024836.3(ZNF672):c.820C>G (p.Arg274Gly)	ZNF672 (R274G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205422	NM_024836.3(ZNF672):c.814C>T (p.Arg272Cys)	ZNF672 (R272C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203926	NM_024836.3(ZNF672):c.452C>T (p.Pro151Leu)	ZNF672 (P151L)	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	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 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 814205	GRCh37/hg19 1q44(chr1:248753183-249142218)x1	LYPD8, OR14I1 +6 more	Copy number loss	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 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)	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 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
Select item 441866	GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3	ABCB10, ACBD3 +184 more	Copy number gain	See cases	GPathogenic
Select item 395594	GRCh37/hg19 1q44(chr1:249104658-249139858)x3	ZNF672, SH3BP5L	Copy number gain	See cases	GBenign
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 393931	GRCh37/hg19 1q44(chr1:249143152-249151805)x3	ZNF672, ZNF692	Copy number gain	See cases	GLikely benign
Select item 253636	GRCh37/hg19 1q42.2-44(chr1:234050864-249213059)x3	ACTN2, ADSS2 +105 more	Copy number gain	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 154451	GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1	ADSS2, AHCTF1 +283 more	Copy number loss	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 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 150712	GRCh38/hg38 1q44(chr1:248826567-248918467)x1	LOC115804255, LOC115804256 +17 more	Copy number loss	See cases	GLikely benign
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

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