ClinVar for Gene (Select 10795) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2566922	NM_003415.3(ZNF268):c.11G>C (p.Arg4Thr)	ZNF268 (R4T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2468316	NM_003415.3(ZNF268):c.29T>C (p.Ile10Thr)	ZNF268 (I10T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2330997	NM_003415.3(ZNF268):c.217A>G (p.Lys73Glu)	ZNF268 (K73E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2292346	NM_003415.3(ZNF268):c.406G>A (p.Gly136Arg)	ZNF268 (G136R +2 more)	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +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	ANKLE2, ARL6IP4 +906 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +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	LOC130009168, LOC130009169 +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	ANKLE2, CHFR +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	ZNF664, ZNF664-RFLNA +786 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 75