ClinVar for Gene (Select 7637) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3198749	NM_001289971.2(ZNF84):c.2135G>A (p.Arg712Gln)	ZNF84 (R712Q)	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 2539945	NM_001289971.2(ZNF84):c.2007C>G (p.His669Gln)	ZNF84 (H669Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528664	NM_001289971.2(ZNF84):c.2141T>C (p.Ile714Thr)	ZNF84 (I714T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518570	NM_001289971.2(ZNF84):c.2155G>A (p.Ala719Thr)	ZNF84 (A719T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518263	NM_001289971.2(ZNF84):c.2180T>C (p.Ile727Thr)	ZNF84 (I727T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493803	NM_001289971.2(ZNF84):c.500A>G (p.His167Arg)	ZNF84 (H167R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489681	NM_001289971.2(ZNF84):c.1168C>T (p.Leu390Phe)	ZNF84 (L390F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470748	NM_001289971.2(ZNF84):c.288C>G (p.Asp96Glu)	ZNF84 (D96E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2468800	NM_001289971.2(ZNF84):c.1424T>G (p.Val475Gly)	ZNF84 (V475G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409044	NM_001289971.2(ZNF84):c.1610A>G (p.His537Arg)	ZNF84 (H537R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378639	NM_001289971.2(ZNF84):c.1380A>G (p.Ile460Met)	ZNF84 (I460M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351445	NM_001289971.2(ZNF84):c.1820C>G (p.Ala607Gly)	ZNF84 (A607G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337932	NM_001289971.2(ZNF84):c.914A>G (p.His305Arg)	ZNF84 (H305R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302512	NM_001289971.2(ZNF84):c.1247C>T (p.Ser416Leu)	ZNF84 (S416L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295713	NM_001289971.2(ZNF84):c.965A>G (p.Asn322Ser)	ZNF84 (N322S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2284808	NM_001289971.2(ZNF84):c.2056A>C (p.Ser686Arg)	ZNF84 (S686R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282400	NM_001289971.2(ZNF84):c.455A>G (p.Lys152Arg)	ZNF84 (K152R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2270357	NM_001289971.2(ZNF84):c.418C>G (p.His140Asp)	ZNF84 (H140D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235915	NM_001289971.2(ZNF84):c.2048A>G (p.Tyr683Cys)	ZNF84 (Y683C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235653	NM_001289971.2(ZNF84):c.696C>A (p.Asp232Glu)	ZNF84 (D232E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2235641	NM_001289971.2(ZNF84):c.1784G>C (p.Gly595Ala)	ZNF84 (G595A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205621	NM_001289971.2(ZNF84):c.1815G>C (p.Arg605Ser)	ZNF84 (R605S)	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 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 982074	NM_001289971.2(ZNF84):c.143-63A>T	ZNF84	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 982073	NM_019591.4(ZNF26):c.1515C>T (p.Thr505=)	ZNF26, ZNF84	Single nucleotide variant (synonymous variant)	not specified	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 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 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	AACS, ABCB9 +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	HNF1A, HNF1A-AS1 +786 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 49