ZNF140[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 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 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 more	Copy number gain	See cases	GPathogenic
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 59847	GRCh38/hg38 12q24.32-24.33(chr12:126403612-133166920)x3	ADGRD1, ADGRD1-AS1 +266 more	Copy number gain	See cases	GPathogenic
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 148236	GRCh38/hg38 12q24.33(chr12:132966304-133202490)x1	LOC126861702, LOC129390595 +18 more	Copy number loss	See cases	GLikely benign
Select item 2330118	NM_003440.4(ZNF140):c.37A>G (p.Ile13Val)	ZNF140 (I13V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2291097	NM_003440.4(ZNF140):c.211G>A (p.Val71Met)	ZNF140 (V71M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 145820	GRCh38/hg38 12q24.33(chr12:133102300-133182263)x3	LOC126861702, LOC130009287 +9 more	Copy number gain	See cases	GLikely benign
Select item 2328567	NM_003440.4(ZNF140):c.271A>G (p.Lys91Glu)	ZNF140, ZNF891 (K91E)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2208274	NM_003440.4(ZNF140):c.413G>A (p.Arg138Lys)	ZNF140, ZNF891 (R10K +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2291553	NM_003440.4(ZNF140):c.424G>A (p.Val142Ile)	ZNF140, ZNF891 (V14I +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3334958	NM_003440.4(ZNF140):c.668A>C (p.Asn223Thr)	ZNF140, ZNF891 (N95T +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2357132	NM_003440.4(ZNF140):c.713C>T (p.Thr238Met)	ZNF140, ZNF891 (T135M +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2385547	NM_003440.4(ZNF140):c.746A>T (p.Glu249Val)	ZNF140, ZNF891 (E121V +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2304458	NM_003440.4(ZNF140):c.835G>A (p.Gly279Ser)	ZNF140, ZNF891 (G279S +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3334957	NM_003440.4(ZNF140):c.869G>A (p.Arg290His)	ZNF140, ZNF891 (R162H +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2391848	NM_003440.4(ZNF140):c.872A>T (p.His291Leu)	ZNF140, ZNF891 (H188L +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2332509	NM_003440.4(ZNF140):c.876G>T (p.Gln292His)	ZNF140, ZNF891 (Q164H +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3194047	NM_003440.4(ZNF140):c.908G>C (p.Cys303Ser)	ZNF140, ZNF891 (C200S +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2412455	NM_003440.4(ZNF140):c.932G>T (p.Arg311Leu)	ZNF140, ZNF891 (R183L +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2408480	NM_003440.4(ZNF140):c.934C>T (p.Arg312Cys)	ZNF140, ZNF891 (R184C +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2387946	NM_003440.4(ZNF140):c.935G>A (p.Arg312His)	ZNF140, ZNF891 (R184H +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2365368	NM_003440.4(ZNF140):c.983C>G (p.Pro328Arg)	ZNF140, ZNF891 (P200R +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3334960	NM_003440.4(ZNF140):c.994A>C (p.Asn332His)	ZNF140, ZNF891 (N204H +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2522110	NM_003440.4(ZNF140):c.1003A>G (p.Arg335Gly)	ZNF140, ZNF891 (R335G +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2287566	NM_003440.4(ZNF140):c.1048A>G (p.Ile350Val)	ZNF140, ZNF891 (I350V +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3194044	NM_003440.4(ZNF140):c.1060G>A (p.Glu354Lys)	ZNF140, ZNF891 (E251K +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3194045	NM_003440.4(ZNF140):c.1066C>T (p.Leu356Phe)	ZNF140, ZNF891 (L228F +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3334959	NM_003440.4(ZNF140):c.1090A>C (p.Lys364Gln)	ZNF140, ZNF891 (K236Q +2 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2519695	NM_003440.4(ZNF140):c.1334A>C (p.Asn445Thr)	ZNF140, ZNF891 (N317T +2 more)	Single nucleotide variant (3 prime UTR 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 1425930	NC_000012.11:g.(?_133236030)_(133676672_?)del	ANKLE2, CHFR +8 more	Deletion	not provided	GPathogenic
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 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)	SLC15A5, SLC16A7 +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 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	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 51