ClinVar for Gene (Select 79862) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3259123	NM_001142572.2(ZNF669):c.127G>A (p.Val43Ile)	ZNF669 (V43I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259121	NM_001142572.2(ZNF669):c.3+137T>C	ZNF669 (L47P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3259120	NM_001142572.2(ZNF669):c.1060C>T (p.His354Tyr)	ZNF669 (H354Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3259119	NM_001142572.2(ZNF669):c.1028G>A (p.Arg343His)	ZNF669 (R429H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197611	NM_001142572.2(ZNF669):c.629A>G (p.His210Arg)	ZNF669 (H210R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197610	NM_001142572.2(ZNF669):c.617C>A (p.Ser206Tyr)	ZNF669 (S292Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197609	NM_001142572.2(ZNF669):c.550A>G (p.Arg184Gly)	ZNF669 (R270G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197608	NM_001142572.2(ZNF669):c.542G>A (p.Arg181Lys)	ZNF669 (R267K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197607	NM_001142572.2(ZNF669):c.312A>T (p.Glu104Asp)	ZNF669 (E104D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197606	NM_001142572.2(ZNF669):c.159A>C (p.Glu53Asp)	ZNF669 (E53D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197605	NM_001142572.2(ZNF669):c.3+206G>T	ZNF669 (R70L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197604	NM_001142572.2(ZNF669):c.1079G>A (p.Cys360Tyr)	ZNF669 (C446Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197603	NM_001142572.2(ZNF669):c.1033A>G (p.Ser345Gly)	ZNF669 (S345G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197602	NM_001142572.2(ZNF669):c.877A>C (p.Asn293His)	ZNF669 (N293H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197601	NM_001142572.2(ZNF669):c.824C>G (p.Pro275Arg)	ZNF669 (P361R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197600	NM_001142572.2(ZNF669):c.761A>T (p.Asp254Val)	ZNF669 (D254V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197599	NM_001142572.2(ZNF669):c.742T>C (p.Tyr248His)	ZNF669 (Y248H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148935	GRCh37/hg19 1q44(chr1:246765135-249224684)x1	AHCTF1, CNST +55 more	Copy number loss	not provided	GUncertain significance
Select item 3063133	GRCh37/hg19 1q43-44(chr1:238681812-249224684)x3	OR2W3, OR6F1 +81 more	Copy number gain	not specified	GLikely pathogenic
Select item 2685965	GRCh37/hg19 1q44(chr1:246983973-249224684)x1	AHCTF1, GCSAML +53 more	Copy number loss	not provided	GUncertain significance
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
Select item 2582785	GRCh38/hg38 1q43-44(chr1:239907336-248919110)x1	ADSS2, AHCTF1 +275 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2579272	GRCh38/hg38 1q43-44(chr1:243221458-248919110)x1	TRIM58, TRL-CAA4-1 +236 more	Copy number loss	Intellectual disability, autosomal dominant 22	GPathogenic
Select item 2539539	NM_001142572.2(ZNF669):c.239A>G (p.Tyr80Cys)	ZNF669 (Y80C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515827	NM_001142572.2(ZNF669):c.1109T>C (p.Leu370Ser)	ZNF669 (L370S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511792	NM_001142572.2(ZNF669):c.471G>A (p.Met157Ile)	ZNF669 (M157I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498455	GRCh37/hg19 1q44(chr1:245704069-249212562)x1	AHCTF1, CNST +58 more	Copy number loss	not provided	GPathogenic
Select item 2477919	NM_001142572.2(ZNF669):c.383A>G (p.Tyr128Cys)	ZNF669 (Y214C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396164	NM_001142572.2(ZNF669):c.197A>G (p.His66Arg)	ZNF669 (H152R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394031	NM_001142572.2(ZNF669):c.1123G>A (p.Val375Met)	ZNF669 (V461M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390397	NM_001142572.2(ZNF669):c.791G>A (p.Arg264His)	ZNF669 (R350H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351524	NM_001142572.2(ZNF669):c.109T>G (p.Cys37Gly)	ZNF669 (C123G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335803	NM_001142572.2(ZNF669):c.28G>A (p.Ala10Thr)	ZNF669 (A10T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309954	NM_001142572.2(ZNF669):c.860G>A (p.Arg287His)	ZNF669 (R287H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309090	NM_001142572.2(ZNF669):c.571C>G (p.Pro191Ala)	ZNF669 (P191A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308183	NM_001142572.2(ZNF669):c.698G>A (p.Cys233Tyr)	ZNF669 (C233Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304177	NM_001142572.2(ZNF669):c.3+10C>G	ZNF669 (L5V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282014	NM_001142572.2(ZNF669):c.806T>G (p.Ile269Ser)	ZNF669 (I269S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280604	NM_001142572.2(ZNF669):c.86A>G (p.Tyr29Cys)	ZNF669 (Y29C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274425	NM_001142572.2(ZNF669):c.3+190G>C	ZNF669 (V65L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270691	NM_001142572.2(ZNF669):c.198T>G (p.His66Gln)	ZNF669 (H152Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260582	NM_001142572.2(ZNF669):c.907C>T (p.Pro303Ser)	ZNF669 (P303S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232438	NM_001142572.2(ZNF669):c.1115G>T (p.Gly372Val)	ZNF669 (G372V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212110	NM_001142572.2(ZNF669):c.3+248C>A	ZNF669 (S84Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210479	NM_001142572.2(ZNF669):c.188T>G (p.Ile63Arg)	ZNF669 (I149R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206134	NM_001142572.2(ZNF669):c.613G>A (p.Gly205Ser)	ZNF669 (G205S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809601	Single allele	ADSS2, AHCTF1 +72 more	Deletion	Developmental and epileptic encephalopathy, 54	GLikely pathogenic
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1808659	GRCh37/hg19 1q43-44(chr1:239910960-249224684)x1	ADSS2, AHCTF1 +81 more	Copy number loss	not provided	GPathogenic
Select item 1807822	GRCh37/hg19 1q43-44(chr1:243258050-249224684)x3	ADSS2, AHCTF1 +69 more	Copy number gain	not provided	GPathogenic
Select item 1711168	GRCh37/hg19 1q42.2-44(chr1:233012994-249206918)x1	OR2T12, OR2T2 +109 more	Copy number loss	See cases	GPathogenic
Select item 1710923	GRCh37/hg19 1q44(chr1:246850401-249205263)x3	AHCTF1, GCSAML +54 more	Copy number gain	See cases	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1328437	GRCh37/hg19 1q44(chr1:246820858-249213969)x3	AHCTF1, CNST +55 more	Copy number gain	not provided	GUncertain significance
Select item 1206351	NM_001142572.2(ZNF669):c.3+152C>G	ZNF669 (P52R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1047876	GRCh37/hg19 1q43-44(chr1:240554955-247342593)	ADSS2, AHCTF1 +31 more	Copy number loss	Global developmental delay +5 more	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 980425	GRCh37/hg19 1q44(chr1:246853199-249181899)x1	AHCTF1, GCSAML +53 more	Copy number loss	not provided	GLikely pathogenic
Select item 980424	GRCh37/hg19 1q44(chr1:247060259-247332499)x3	ZNF669, LINC02897 +4 more	Copy number gain	not provided	GLikely benign
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814204	GRCh37/hg19 1q44(chr1:247089676-247411806)x3	ZNF124, ZNF669 +4 more	Copy number gain	not provided	GUncertain significance
Select item 689213	GRCh37/hg19 1q43-44(chr1:238669293-249224684)x3	VN1R5, WDR64 +81 more	Copy number gain	not provided	GPathogenic
Select item 687454	GRCh37/hg19 1q44(chr1:246565044-249224684)x1	AHCTF1, CNST +57 more	Copy number loss	not provided	GPathogenic
Select item 687072	GRCh37/hg19 1q44(chr1:247089709-247416754)x3	AHCTF1, LINC02897 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686163	GRCh37/hg19 1q44(chr1:246821058-247265403)x3	AHCTF1, CNST +4 more	Copy number gain	not provided	GUncertain significance
Select item 685533	GRCh37/hg19 1q44(chr1:247032527-248071583)x3	AHCTF1, GCSAML +19 more	Copy number gain	not provided	GUncertain significance
Select item 685476	GRCh37/hg19 1q42.3-44(chr1:235582580-249224684)x3	ACTN2, ADSS2 +96 more	Copy number gain	not provided	GPathogenic
Select item 685153	GRCh37/hg19 1q44(chr1:244379481-249224684)x1	ADSS2, AHCTF1 +65 more	Copy number loss	not provided	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 625535	GRCh37/hg19 1q44(chr1:245341153-249212429)	AHCTF1, CNST +58 more	Copy number loss	not provided	GLikely pathogenic
Select item 565256	GRCh37/hg19 1q44(chr1:246708791-247417037)x3	CNST, AHCTF1 +7 more	Copy number gain	not provided	GLikely benign
Select item 565250	GRCh37/hg19 1q44(chr1:244797639-249224684)x1	AHCTF1, CATSPERE +63 more	Copy number loss	not provided	GPathogenic
Select item 565241	GRCh37/hg19 1q43-44(chr1:241051170-249224684)x1	ADSS2, AHCTF1 +78 more	Copy number loss	not provided	GPathogenic
Select item 565232	GRCh37/hg19 1q42.13-44(chr1:228529973-249181598)x3	ABCB10, ACTA1 +145 more	Copy number gain	not provided	GPathogenic
Select item 565225	GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3	H2BC26, H3-3A +213 more	Copy number gain	not provided	GPathogenic
Select item 549578	NC_000001.11:g.246924924_247245758dup	AHCTF1, FLJ39095 +18 more	Duplication	Primary amenorrhea	GLikely benign
Select item 443568	GRCh37/hg19 1q44(chr1:246753355-249224684)x3	AHCTF1, CNST +55 more	Copy number gain	See cases	GUncertain significance
Select item 443102	GRCh37/hg19 1q44(chr1:244197791-249224684)x4	ADSS2, AHCTF1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 442983	GRCh37/hg19 1q44(chr1:244281222-247789907)x3	ADSS2, AHCTF1 +24 more	Copy number gain	See cases	GUncertain significance
Select item 442726	GRCh37/hg19 1q43-44(chr1:240620284-247690417)x1	ADSS2, AHCTF1 +35 more	Copy number loss	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441937	GRCh37/hg19 1q42.3-44(chr1:235797384-249224684)x1	ACTN2, ADSS2 +94 more	Copy number loss	See cases	GPathogenic
Select item 441889	GRCh37/hg19 1q43-44(chr1:242324398-249224684)x4	ADSS2, AHCTF1 +70 more	Copy number gain	See cases	GLikely pathogenic
Select item 441866	GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3	ABCB10, ACBD3 +184 more	Copy number gain	See cases	GPathogenic
Select item 395294	GRCh37/hg19 1q43-44(chr1:242656460-249213000)x3	ADSS2, CATSPERE +70 more	Copy number gain	See cases	GPathogenic
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 393997	GRCh37/hg19 1q42.2-44(chr1:231670870-249213000)x3	GCSAML, GGPS1 +114 more	Copy number gain	See cases	GPathogenic
Select item 253636	GRCh37/hg19 1q42.2-44(chr1:234050864-249213059)x3	ACTN2, ADSS2 +105 more	Copy number gain	See cases	GPathogenic
Select item 253547	GRCh37/hg19 1q43-44(chr1:243103401-249119318)x1	OR2L2, OR2L8 +66 more	Copy number loss	See cases	GPathogenic
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 155307	GRCh38/hg38 1q43-44(chr1:238192880-248930485)x1	ADSS2, AHCTF1 +280 more	Copy number loss	See cases	GPathogenic
Select item 154859	GRCh38/hg38 1q44(chr1:246961051-247245763)x3	FLJ39095, LINC02897 +14 more	Copy number gain	See cases	GLikely benign
Select item 154451	GRCh38/hg38 1q43-44(chr1:237643281-248918469)x1	ADSS2, AHCTF1 +283 more	Copy number loss	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 151321	GRCh38/hg38 1q43-44(chr1:238033575-248924534)x1	ADSS2, AHCTF1 +280 more	Copy number loss	See cases	GPathogenic
Select item 151131	GRCh38/hg38 1q43-44(chr1:242045279-248930485)x1	ADSS2, AHCTF1 +244 more	Copy number loss	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 148480	GRCh38/hg38 1q43-44(chr1:236556082-248918469)x1	ACTN2, ADSS2 +302 more	Copy number loss	See cases	GPathogenic

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