ClinVar for Gene (Select 10795) - ClinVar

Links from Gene

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3194804	NM_003415.3(ZNF268):c.898G>A (p.Glu300Lys)	ZNF268 (E217K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194803	NM_003415.3(ZNF268):c.839G>A (p.Cys280Tyr)	ZNF268 (C280Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3194802	NM_003415.3(ZNF268):c.697T>C (p.Ser233Pro)	ZNF268 (S150P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194801	NM_003415.3(ZNF268):c.662G>T (p.Arg221Ile)	ZNF268 (R138I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194800	NM_003415.3(ZNF268):c.540A>G (p.Glu180=)	ZNF268 (N106S +3 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3194799	NM_003415.3(ZNF268):c.505A>G (p.Lys169Glu)	ZNF268 (K86E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194798	NM_003415.3(ZNF268):c.2834A>G (p.Asp945Gly)	ZNF268 (D945G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194797	NM_003415.3(ZNF268):c.2816A>G (p.Gln939Arg)	ZNF268 (Q856R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194795	NM_003415.3(ZNF268):c.251T>C (p.Met84Thr)	ZNF268 (M17T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3194794	NM_003415.3(ZNF268):c.2483G>A (p.Arg828Gln)	ZNF268 (R828Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194793	NM_003415.3(ZNF268):c.2437T>C (p.Cys813Arg)	ZNF268 (C730R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194792	NM_003415.3(ZNF268):c.2263A>C (p.Ser755Arg)	ZNF268 (S672R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194791	NM_003415.3(ZNF268):c.2056C>T (p.His686Tyr)	ZNF268 (H603Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3194790	NM_003415.3(ZNF268):c.1681T>C (p.Cys561Arg)	ZNF268 (C478R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194789	NM_003415.3(ZNF268):c.1630A>C (p.Ile544Leu)	ZNF268 (I544L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194788	NM_003415.3(ZNF268):c.1394T>C (p.Ile465Thr)	ZNF268 (I465T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3194787	NM_003415.3(ZNF268):c.1151G>A (p.Gly384Glu)	ZNF268 (G301E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684685	GRCh37/hg19 12q24.31-24.33(chr12:121551496-133777902)x3	AACS, ABCB9 +93 more	Copy number gain	not provided	GPathogenic
Select item 2684684	GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3	AACS, ABCB9 +108 more	Copy number gain	not provided	GPathogenic
Select item 2681662	NM_003415.3(ZNF268):c.1979G>A (p.Gly660Glu)	ZNF268 (G577E +1 more)	Single nucleotide variant (missense variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2643662	NM_003415.3(ZNF268):c.957C>T (p.Leu319=)	ZNF268	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2612686	NM_003415.3(ZNF268):c.2395A>G (p.Met799Val)	ZNF268 (M716V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570333	NM_003415.3(ZNF268):c.779A>G (p.Lys260Arg)	ZNF268 (K260R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569858	NM_003415.3(ZNF268):c.441A>G (p.Pro147=)	ZNF268 (Q38R +1 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2568582	NM_003415.3(ZNF268):c.2048T>C (p.Leu683Pro)	ZNF268 (L683P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568536	NM_003415.3(ZNF268):c.817G>A (p.Glu273Lys)	ZNF268 (E190K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2566922	NM_003415.3(ZNF268):c.11G>C (p.Arg4Thr)	ZNF268 (R4T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546338	NM_003415.3(ZNF268):c.1313A>G (p.His438Arg)	ZNF268 (H355R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540076	NM_003415.3(ZNF268):c.1216C>T (p.His406Tyr)	ZNF268 (H406Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524620	NM_003415.3(ZNF268):c.1491G>T (p.Met497Ile)	ZNF268 (M414I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512621	NM_003415.3(ZNF268):c.1949C>T (p.Thr650Met)	ZNF268 (T650M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510743	NM_003415.3(ZNF268):c.2561A>G (p.His854Arg)	ZNF268 (H854R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510442	NM_003415.3(ZNF268):c.1915C>T (p.Pro639Ser)	ZNF268 (P556S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507871	NM_003415.3(ZNF268):c.525G>A (p.Thr175=)	ZNF268 (R133Q +3 more)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 2493989	NM_003415.3(ZNF268):c.688C>A (p.His230Asn)	ZNF268 (H147N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488084	NM_003415.3(ZNF268):c.2688A>C (p.Glu896Asp)	ZNF268 (E896D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481639	NM_003415.3(ZNF268):c.1160C>T (p.Pro387Leu)	ZNF268 (P304L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468738	NM_003415.3(ZNF268):c.2569A>G (p.Met857Val)	ZNF268 (M857V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468316	NM_003415.3(ZNF268):c.29T>C (p.Ile10Thr)	ZNF268 (I10T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378828	NM_003415.3(ZNF268):c.1361C>T (p.Thr454Ile)	ZNF268 (T371I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366079	NM_003415.3(ZNF268):c.1013G>A (p.Arg338Lys)	ZNF268 (R338K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365188	NM_003415.3(ZNF268):c.2287A>G (p.Arg763Gly)	ZNF268 (R763G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360254	NM_003415.3(ZNF268):c.2315G>A (p.Arg772Gln)	ZNF268 (R689Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354321	NM_003415.3(ZNF268):c.593A>G (p.Gln198Arg)	ZNF268 (K156E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353775	NM_003415.3(ZNF268):c.2630C>T (p.Ser877Phe)	ZNF268 (S794F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351598	NM_003415.3(ZNF268):c.2128T>C (p.Tyr710His)	ZNF268 (Y627H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347901	NM_003415.3(ZNF268):c.1099A>G (p.Lys367Glu)	ZNF268 (K367E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343991	NM_003415.3(ZNF268):c.1874C>T (p.Ser625Leu)	ZNF268 (S542L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340701	NM_003415.3(ZNF268):c.418T>C (p.Cys140Arg)	ZNF268 (C57R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2339871	NM_003415.3(ZNF268):c.2125T>G (p.Ser709Ala)	ZNF268 (S626A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330997	NM_003415.3(ZNF268):c.217A>G (p.Lys73Glu)	ZNF268 (K73E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2329442	NM_003415.3(ZNF268):c.2575A>C (p.Thr859Pro)	ZNF268 (T859P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326845	NM_003415.3(ZNF268):c.2615C>T (p.Ala872Val)	ZNF268 (A872V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322604	NM_003415.3(ZNF268):c.1246T>A (p.Tyr416Asn)	ZNF268 (Y333N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308659	NM_003415.3(ZNF268):c.2575A>G (p.Thr859Ala)	ZNF268 (T776A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296103	NM_003415.3(ZNF268):c.2149A>G (p.Thr717Ala)	ZNF268 (T634A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292346	NM_003415.3(ZNF268):c.406G>A (p.Gly136Arg)	ZNF268 (G136R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2280455	NM_003415.3(ZNF268):c.2497G>T (p.Val833Phe)	ZNF268 (V750F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266860	NM_003415.3(ZNF268):c.2118G>C (p.Arg706Ser)	ZNF268 (R623S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263938	NM_003415.3(ZNF268):c.1966A>G (p.Ile656Val)	ZNF268 (I573V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260504	NM_003415.3(ZNF268):c.1292T>G (p.Leu431Arg)	ZNF268 (L431R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256364	NM_003415.3(ZNF268):c.2419C>T (p.Pro807Ser)	ZNF268 (P807S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239693	NM_003415.3(ZNF268):c.1978G>C (p.Gly660Arg)	ZNF268 (G660R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239207	NM_003415.3(ZNF268):c.2350G>C (p.Glu784Gln)	ZNF268 (E701Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234188	NM_003415.3(ZNF268):c.1478G>A (p.Ser493Asn)	ZNF268 (S410N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211342	NM_003415.3(ZNF268):c.1687A>G (p.Lys563Glu)	ZNF268 (K480E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208735	NM_003415.3(ZNF268):c.1967T>C (p.Ile656Thr)	ZNF268 (I573T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1340959	GRCh37/hg19 12q24.33(chr12:133520357-133777902)x1	ZNF10, ZNF140 +5 more	Copy number loss	not provided	GLikely benign
Select item 1330196	GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3	AACS, ABCB9 +135 more	Copy number gain	Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures	GLikely pathogenic
Select item 1288072	NM_003415.3(ZNF268):c.2037G>T (p.Leu679Phe)	ZNF268 (L596F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 688011	GRCh37/hg19 12q24.32-24.33(chr12:126470636-133777902)x1	ADGRD1, ANKLE2 +32 more	Copy number loss	not provided	GUncertain significance
Select item 686464	GRCh37/hg19 12q24.33(chr12:132975658-133777902)x1	ANKLE2, CHFR +15 more	Copy number loss	not provided	GUncertain significance
Select item 638102	GRCh37/hg19 12q24.33(chr12:131363916-133777645)x3	EP400, FBRSL1 +23 more	Copy number gain	See cases	GPathogenic
Select item 625819	GRCh37/hg19 12q24.31-24.33(chr12:125451405-133810935)	AACS, ADGRD1 +37 more	Copy number gain	not provided	GPathogenic
Select item 563980	GRCh37/hg19 12q24.33(chr12:130973400-133777902)x3	ZNF10, PGAM5 +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 442500	GRCh37/hg19 12q24.33(chr12:133046203-133777902)x3	ANKLE2, CHFR +15 more	Copy number gain	See cases	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 393976	GRCh37/hg19 12q24.33(chr12:133727565-133772989)x3	ZNF10, ZNF268	Copy number gain	See cases	GBenign
Select item 393877	GRCh37/hg19 12q24.33(chr12:133683528-133772989)x3	ZNF10, ZNF140 +2 more	Copy number gain	See cases	GLikely benign
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	TRD-GTC2-10, TRD-GTC2-9 +906 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 148236	GRCh38/hg38 12q24.33(chr12:132966304-133202490)x1	LOC126861702, LOC129390595 +18 more	Copy number loss	See cases	GLikely benign
Select item 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	AACS, ADGRD1 +408 more	Copy number gain	See cases	GPathogenic
Select item 145820	GRCh38/hg38 12q24.33(chr12:133102300-133182263)x3	LOC126861702, LOC130009287 +9 more	Copy number gain	See cases	GLikely benign
Select item 145321	GRCh38/hg38 12q24.33(chr12:133187321-133196807)x3	ZNF268	Copy number gain	See cases	GBenign
Select item 145016	GRCh38/hg38 12q24.33(chr12:133136361-133202431)x3	LOC126861702, LOC132090064 +2 more	Copy number gain	See cases	GBenign
Select item 144761	GRCh38/hg38 12q24.33(chr12:131650542-133191400)x1	ANKLE2, CHFR +122 more	Copy number loss	See cases	GPathogenic
Select item 144295	GRCh38/hg38 12q24.33(chr12:132576614-133191400)x1	ZNF84, ZNF84-DT +55 more	Copy number loss	See cases	GPathogenic
Select item 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	HNF1A, HNF1A-AS1 +786 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 93