"PreventionGenetics, part of Exact Sciences"[submitter] AND "ZNF469"[g - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 320847	NM_001367624.2(ZNF469):c.81G>A (p.Pro27=)	ZNF469	Single nucleotide variant (synonymous variant)	Brittle cornea syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 320849	NM_001367624.2(ZNF469):c.139G>A (p.Gly47Ser)	ZNF469 (G47S)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 451642	NM_001367624.2(ZNF469):c.334G>A (p.Ala112Thr)	ZNF469 (A112T)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 320852	NM_001367624.2(ZNF469):c.402C>T (p.Asp134=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 452044	NM_001367624.2(ZNF469):c.585C>G (p.Asn195Lys)	ZNF469 (N195K)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +2 more	GUncertain significance
Select item 1948383	NM_001367624.2(ZNF469):c.600C>T (p.Ser200=)	ZNF469	Single nucleotide variant (synonymous variant)	ZNF469-related disorder +2 more	GLikely benign
Select item 320854	NM_001367624.2(ZNF469):c.609C>A (p.Pro203=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 2564240	NM_001367624.2(ZNF469):c.702C>T (p.Ser234=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 379787	NM_001367624.2(ZNF469):c.751C>A (p.Pro251Thr)	ZNF469 (P251T)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 2758437	NM_001367624.2(ZNF469):c.996C>G (p.Pro332=)	ZNF469	Single nucleotide variant (synonymous variant)	ZNF469-related disorder +2 more	GLikely benign
Select item 126915	NM_001367624.2(ZNF469):c.1020C>T (p.Gly340=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 392679	NM_001367624.2(ZNF469):c.1065C>A (p.Leu355=)	ZNF469	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +3 more	GConflicting classifications of pathogenicity
Select item 193176	NM_001367624.2(ZNF469):c.1088C>T (p.Ser363Leu)	ZNF469 (S363L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2898494	NM_001367624.2(ZNF469):c.1143C>G (p.Pro381=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1770884	NM_001367624.2(ZNF469):c.1363C>A (p.Pro455Thr)	ZNF469 (P455T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1575523	NM_001367624.2(ZNF469):c.1395C>T (p.Asn465=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 429651	NM_001367624.2(ZNF469):c.1483C>T (p.Pro495Ser)	ZNF469 (P495S)	Single nucleotide variant (missense variant)	ZNF469-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 808123	NM_001367624.2(ZNF469):c.1522G>A (p.Ala508Thr)	ZNF469 (A508T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 372949	NM_001367624.2(ZNF469):c.1609G>A (p.Val537Met)	ZNF469 (V537M)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 320869	NM_001367624.2(ZNF469):c.1615A>T (p.Ser539Cys)	ZNF469 (S539C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 2965672	NM_001367624.2(ZNF469):c.1641G>C (p.Leu547=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 390963	NM_001367624.2(ZNF469):c.1689C>T (p.Phe563=)	ZNF469	Single nucleotide variant (synonymous variant)	ZNF469-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 320874	NM_001367624.2(ZNF469):c.1882C>A (p.Pro628Thr)	ZNF469 (P628T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 320875	NM_001367624.2(ZNF469):c.1896G>A (p.Ser632=)	ZNF469	Single nucleotide variant (synonymous variant)	Brittle cornea syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 518102	NM_001367624.2(ZNF469):c.1911A>G (p.Pro637=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 320879	NM_001367624.2(ZNF469):c.2034C>T (p.Ala678=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 1213410	NM_001367624.2(ZNF469):c.2127G>A (p.Pro709=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 282944	NM_001367624.2(ZNF469):c.2270T>G (p.Leu757Arg)	ZNF469 (L757R)	Single nucleotide variant (missense variant)	ZNF469-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 286776	NM_001367624.2(ZNF469):c.2297G>A (p.Arg766Gln)	ZNF469 (R766Q)	Single nucleotide variant (missense variant)	ZNF469-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 2624533	NM_001367624.2(ZNF469):c.2388C>T (p.Thr796=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 421232	NM_001367624.2(ZNF469):c.2625_2645del (p.Pro876_Gly882del)	ZNF469	Deletion (inframe_deletion)	ZNF469-related disorder +3 more	GBenign/Likely benign
Select item 126922	NM_001367624.2(ZNF469):c.2699C>T (p.Pro900Leu)	ZNF469 (P900L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 320897	NM_001367624.2(ZNF469):c.2931C>T (p.Gly977=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1727511	NM_001367624.2(ZNF469):c.3096C>A (p.Pro1032=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 320902	NM_001367624.2(ZNF469):c.3125G>A (p.Arg1042Gln)	ZNF469 (R1042Q)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +5 more	GBenign/Likely benign
Select item 1211457	NM_001367624.2(ZNF469):c.3128G>T (p.Gly1043Val)	LOC130059718, ZNF469 (G1043V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1934200	NM_001367624.2(ZNF469):c.3288G>C (p.Ser1096=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 493198	NM_001367624.2(ZNF469):c.3341G>T (p.Arg1114Leu)	ZNF469 (R1114L)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +4 more	GBenign/Likely benign
Select item 1198893	NM_001367624.2(ZNF469):c.3411A>G (p.Lys1137=)	ZNF469	Single nucleotide variant (synonymous variant)	ZNF469-related disorder +2 more	GLikely benign
Select item 511110	NM_001367624.2(ZNF469):c.3480G>C (p.Gly1160=)	ZNF469	Single nucleotide variant (synonymous variant)	ZNF469-related disorder +2 more	GLikely benign
Select item 1591158	NM_001367624.2(ZNF469):c.3648C>A (p.Arg1216=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2071562	NM_001367624.2(ZNF469):c.3875G>C (p.Ser1292Thr)	ZNF469 (S1292T)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 320915	NM_001367624.2(ZNF469):c.3950A>G (p.Lys1317Arg)	ZNF469 (K1317R)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 320921	NM_001367624.2(ZNF469):c.4376T>G (p.Leu1459Arg)	ZNF469 (L1459R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 2961451	NM_001367624.2(ZNF469):c.4407T>C (p.Tyr1469=)	ZNF469	Single nucleotide variant (synonymous variant)	ZNF469-related disorder +1 more	GLikely benign
Select item 281900	NM_001367624.2(ZNF469):c.4472C>T (p.Thr1491Met)	ZNF469 (T1491M)	Single nucleotide variant (missense variant)	ZNF469-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 320925	NM_001367624.2(ZNF469):c.4479G>A (p.Pro1493=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1208763	NM_001367624.2(ZNF469):c.4612G>A (p.Ala1538Thr)	ZNF469 (A1538T)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 2636991	NM_001367624.2(ZNF469):c.4640G>A (p.Ser1547Asn)	ZNF469 (S1547N)	Single nucleotide variant (missense variant)	ZNF469-related disorder	GUncertain significance
Select item 320932	NM_001367624.2(ZNF469):c.4907A>G (p.His1636Arg)	ZNF469 (H1636R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 320933	NM_001367624.2(ZNF469):c.4909C>T (p.Arg1637Trp)	ZNF469 (R1637W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1744072	NM_001367624.2(ZNF469):c.4998G>A (p.Pro1666=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1201868	NM_001367624.2(ZNF469):c.5229C>A (p.Pro1743=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1419649	NM_001367624.2(ZNF469):c.5341G>A (p.Gly1781Ser)	ZNF469 (G1781S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 426323	NM_001367624.2(ZNF469):c.5414C>A (p.Pro1805His)	ZNF469 (P1805H)	Single nucleotide variant (missense variant)	ZNF469-related disorder +3 more	GBenign/Likely benign
Select item 1206937	NM_001367624.2(ZNF469):c.5523G>A (p.Gly1841=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1215112	NM_001367624.2(ZNF469):c.5537C>T (p.Thr1846Met)	ZNF469 (T1846M)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1175622	NM_001367624.2(ZNF469):c.5644G>A (p.Ala1882Thr)	ZNF469 (A1882T)	Single nucleotide variant (missense variant)	ZNF469-related disorder +3 more	GLikely benign
Select item 1214758	NM_001367624.2(ZNF469):c.5862C>T (p.Pro1954=)	ZNF469	Single nucleotide variant (synonymous variant)	Brittle cornea syndrome 1 +3 more	GBenign/Likely benign
Select item 2991348	NM_001367624.2(ZNF469):c.5913C>G (p.Ala1971=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 373813	NM_001367624.2(ZNF469):c.5914G>A (p.Gly1972Arg)	ZNF469 (G1972R)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 2199954	NM_001367624.2(ZNF469):c.5946T>C (p.His1982=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1595743	NM_001367624.2(ZNF469):c.6015C>T (p.Asn2005=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1750922	NM_001367624.2(ZNF469):c.6081C>T (p.Thr2027=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 126928	NM_001367624.2(ZNF469):c.6179C>A (p.Ser2060Tyr)	ZNF469 (S2060Y)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1199567	NM_001367624.2(ZNF469):c.6261G>A (p.Ala2087=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2888265	NM_001367624.2(ZNF469):c.6264C>T (p.Ser2088=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1702145	NM_001367624.2(ZNF469):c.6474C>T (p.Asp2158=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 389579	NM_001367624.2(ZNF469):c.6489G>A (p.Gln2163=)	ZNF469	Single nucleotide variant (synonymous variant)	ZNF469-related disorder +5 more	GBenign/Likely benign
Select item 1640608	NM_001367624.2(ZNF469):c.6651G>A (p.Gly2217=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1610181	NM_001367624.2(ZNF469):c.6825G>A (p.Gly2275=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1427143	NM_001367624.2(ZNF469):c.6829G>A (p.Val2277Ile)	ZNF469 (V2277I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 451643	NM_001367624.2(ZNF469):c.6965T>C (p.Met2322Thr)	ZNF469 (M2322T)	Single nucleotide variant (missense variant)	ZNF469-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 320964	NM_001367624.2(ZNF469):c.7079C>T (p.Pro2360Leu)	ZNF469 (P2360L)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 392660	NM_001367624.2(ZNF469):c.7466G>A (p.Arg2489Gln)	ZNF469 (R2489Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 320974	NM_001367624.2(ZNF469):c.7553C>A (p.Pro2518His)	ZNF469 (P2518H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1602923	NM_001367624.2(ZNF469):c.7983C>T (p.Gly2661=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 508242	NM_001367624.2(ZNF469):c.8064C>T (p.Asp2688=)	ZNF469	Single nucleotide variant (synonymous variant)	ZNF469-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1432596	NM_001367624.2(ZNF469):c.8252C>T (p.Ser2751Leu)	ZNF469 (S2751L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 432203	NM_001367624.2(ZNF469):c.8381C>T (p.Thr2794Met)	ZNF469 (T2794M)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +3 more	GBenign/Likely benign
Select item 1763006	NM_001367624.2(ZNF469):c.8427G>A (p.Pro2809=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 320989	NM_001367624.2(ZNF469):c.8503G>C (p.Glu2835Gln)	ZNF469 (E2835Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1763698	NM_001367624.2(ZNF469):c.8598C>T (p.Gly2866=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 452045	NM_001367624.2(ZNF469):c.8599G>A (p.Gly2867Ser)	ZNF469 (G2867S)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +3 more	GUncertain significance
Select item 320991	NM_001367624.2(ZNF469):c.8642G>A (p.Arg2881His)	ZNF469 (R2881H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1702157	NM_001367624.2(ZNF469):c.8678C>T (p.Pro2893Leu)	ZNF469 (P2893L)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely benign
Select item 1764324	NM_001367624.2(ZNF469):c.8775G>A (p.Pro2925=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 808133	NM_001367624.2(ZNF469):c.9040G>A (p.Gly3014Arg)	ZNF469 (G3014R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 286115	NM_001367624.2(ZNF469):c.9125G>A (p.Arg3042His)	ZNF469 (R3042H)	Single nucleotide variant (missense variant)	ZNF469-related disorder +5 more	GBenign/Likely benign
Select item 1216127	NM_001367624.2(ZNF469):c.9462C>T (p.Gly3154=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 390132	NM_001367624.2(ZNF469):c.9516C>T (p.Ala3172=)	ZNF469	Single nucleotide variant (synonymous variant)	ZNF469-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1203514	NM_001367624.2(ZNF469):c.9620C>T (p.Ala3207Val)	ZNF469 (A3207V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 321006	NM_001367624.2(ZNF469):c.9676C>A (p.His3226Asn)	ZNF469 (H3226N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 2881635	NM_001367624.2(ZNF469):c.9906G>A (p.Pro3302=)	ZNF469	Single nucleotide variant (synonymous variant)	ZNF469-related disorder +1 more	GLikely benign
Select item 321011	NM_001367624.2(ZNF469):c.9921G>A (p.Thr3307=)	ZNF469	Single nucleotide variant (synonymous variant)	Brittle cornea syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 1780185	NM_001367624.2(ZNF469):c.10141C>T (p.Leu3381=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 388236	NM_001367624.2(ZNF469):c.10327G>C (p.Gly3443Arg)	ZNF469 (G3443R)	Single nucleotide variant (missense variant)	ZNF469-related disorder +4 more	GBenign/Likely benign
Select item 506879	NM_001367624.2(ZNF469):c.10328G>C (p.Gly3443Ala)	ZNF469 (G3443A)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 321014	NM_001367624.2(ZNF469):c.10330G>C (p.Gly3444Arg)	ZNF469 (G3444R)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 1769439	NM_001367624.2(ZNF469):c.10346C>G (p.Ala3449Gly)	ZNF469 (A3449G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance

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