ClinVar for Gene (Select 100289635) - ClinVar

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Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258864	NM_183238.4(ZNF605):c.1708T>G (p.Phe570Val)	ZNF605 (F601V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258863	NM_183238.4(ZNF605):c.1845A>T (p.Lys615Asn)	ZNF605 (K615N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258862	NM_183238.4(ZNF605):c.1874C>T (p.Thr625Ile)	ZNF605 (T656I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244416	NC_000012.11:g.(?_133248873)_(133501664_?)del	ANKLE2, CHFR +5 more	Deletion	not provided	GPathogenic
Select item 3197108	NM_183238.4(ZNF605):c.1850A>G (p.Tyr617Cys)	ZNF605 (Y617C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197107	NM_183238.4(ZNF605):c.1742G>T (p.Arg581Ile)	ZNF605 (R581I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197106	NM_183238.4(ZNF605):c.1561C>G (p.Leu521Val)	ZNF605 (L521V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197105	NM_183238.4(ZNF605):c.1169A>C (p.Glu390Ala)	ZNF605 (E390A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2643661	NM_183238.4(ZNF605):c.1759A>C (p.Arg587=)	ZNF605	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2529068	NM_183238.4(ZNF605):c.139G>A (p.Val47Ile)	ZNF605 (V78I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464516	NM_183238.4(ZNF605):c.1693G>A (p.Asp565Asn)	ZNF605 (D565N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384142	NM_183238.4(ZNF605):c.136+258G>A	ZNF605 (M55I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2376384	NM_183238.4(ZNF605):c.1192T>C (p.Cys398Arg)	ZNF605 (C429R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370183	NM_183238.4(ZNF605):c.269T>C (p.Leu90Pro)	ZNF605 (L90P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365141	NM_183238.4(ZNF605):c.144G>T (p.Trp48Cys)	ZNF605 (W48C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360094	NM_183238.4(ZNF605):c.1012G>A (p.Gly338Arg)	ZNF605 (G369R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335652	NM_183238.4(ZNF605):c.684C>G (p.Ser228Arg)	ZNF605 (S228R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316875	NM_183238.4(ZNF605):c.905C>T (p.Ala302Val)	ZNF605 (A333V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287516	NM_183238.4(ZNF605):c.537C>G (p.Asn179Lys)	ZNF605 (N179K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287515	NM_183238.4(ZNF605):c.536A>T (p.Asn179Ile)	ZNF605 (N179I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281003	NM_183238.4(ZNF605):c.162G>T (p.Met54Ile)	ZNF605 (M85I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266865	NM_183238.4(ZNF605):c.913G>A (p.Gly305Arg)	ZNF605 (G336R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210122	NM_183238.4(ZNF605):c.1868G>A (p.Gly623Glu)	ZNF605 (G623E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1425930	NC_000012.11:g.(?_133236030)_(133676672_?)del	ANKLE2, CHFR +8 more	Deletion	not provided	GPathogenic
Select item 1341278	GRCh37/hg19 12q24.33(chr12:133187500-133592221)x3	ANKLE2, CHFR +7 more	Copy number gain	not provided	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 1338835	GRCh38/hg38 12q24.33(chr12:132804406-132944910)	LOC126861701, LOC130009274 +13 more	Copy number loss	Diaphragmatic hernia	GUncertain significance
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 443093	GRCh37/hg19 12q24.33(chr12:133061680-133510071)x1	ANKLE2, CHFR +8 more	Copy number loss	See cases	GUncertain significance
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 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 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 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 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 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	AACS, ADGRD1 +408 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 59847	GRCh38/hg38 12q24.32-24.33(chr12:126403612-133166920)x3	ADGRD1, ADGRD1-AS1 +266 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 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	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 50