"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "ZNF469"[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1783947	NM_001367624.2(ZNF469):c.198G>T (p.Arg66Ser)	ZNF469 (R66S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1702154	NM_001367624.2(ZNF469):c.796G>A (p.Gly266Ser)	ZNF469 (G266S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1444075	NM_001367624.2(ZNF469):c.941C>T (p.Pro314Leu)	ZNF469 (P314L)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +2 more	GUncertain significance
Select item 1774007	NM_001367624.2(ZNF469):c.1040G>A (p.Arg347His)	ZNF469 (R347H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 320862	NM_001367624.2(ZNF469):c.1048G>A (p.Asp350Asn)	ZNF469 (D350N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3232757	NM_001367624.2(ZNF469):c.1259C>T (p.Pro420Leu)	ZNF469 (P420L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 871978	NM_001367624.2(ZNF469):c.1418G>A (p.Arg473Gln)	ZNF469 (R473Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1773109	NM_001367624.2(ZNF469):c.1459G>C (p.Val487Leu)	ZNF469 (V487L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2210412	NM_001367624.2(ZNF469):c.1500G>A (p.Met500Ile)	ZNF469 (M500I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1775055	NM_001367624.2(ZNF469):c.1550G>T (p.Ser517Ile)	ZNF469 (S517I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3380409	NM_001367624.2(ZNF469):c.2076C>G (p.His692Gln)	ZNF469 (H692Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380411	NM_001367624.2(ZNF469):c.2355C>G (p.Asp785Glu)	ZNF469 (D785E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1211821	NM_001367624.2(ZNF469):c.2500A>G (p.Met834Val)	ZNF469 (M834V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2683379	NM_001367624.2(ZNF469):c.3163G>A (p.Val1055Met)	LOC130059718, ZNF469 (V1055M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1388145	NM_001367624.2(ZNF469):c.3890G>A (p.Gly1297Asp)	ZNF469 (G1297D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1737030	NM_001367624.2(ZNF469):c.4096G>A (p.Val1366Ile)	ZNF469 (V1366I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3380412	NM_001367624.2(ZNF469):c.4259A>T (p.Glu1420Val)	ZNF469 (E1420V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1343543	NM_001367624.2(ZNF469):c.4276G>A (p.Glu1426Lys)	ZNF469 (E1426K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1468823	NM_001367624.2(ZNF469):c.4474_4479del (p.Val1492_Pro1493del)	ZNF469	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2181615	NM_001367624.2(ZNF469):c.4478C>T (p.Pro1493Leu)	ZNF469 (P1493L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1741124	NM_001367624.2(ZNF469):c.4594C>T (p.Arg1532Trp)	ZNF469 (R1532W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 450509	NM_001367624.2(ZNF469):c.4609G>A (p.Gly1537Ser)	ZNF469 (G1537S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1374519	NM_001367624.2(ZNF469):c.4883C>T (p.Thr1628Met)	ZNF469 (T1628M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2258680	NM_001367624.2(ZNF469):c.5281A>G (p.Ser1761Gly)	ZNF469 (S1761G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1750745	NM_001367624.2(ZNF469):c.6047C>T (p.Ala2016Val)	ZNF469 (A2016V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3380413	NM_001367624.2(ZNF469):c.6412T>C (p.Ser2138Pro)	ZNF469 (S2138P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1702144	NM_001367624.2(ZNF469):c.6436_6441dup (p.Gly2147_Gly2148insLeuGly)	ZNF469	Duplication (inframe_insertion)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1463241	NM_001367624.2(ZNF469):c.6697G>A (p.Val2233Ile)	ZNF469 (V2233I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313999	NM_001367624.2(ZNF469):c.6739G>A (p.Asp2247Asn)	ZNF469 (D2247N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 126929	NM_001367624.2(ZNF469):c.6809C>A (p.Ser2270Tyr)	ZNF469 (S2270Y)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 320968	NM_001367624.2(ZNF469):c.7159C>T (p.Arg2387Cys)	ZNF469 (R2387C)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +2 more	GUncertain significance
Select item 1348726	NM_001367624.2(ZNF469):c.7586A>G (p.Lys2529Arg)	ZNF469 (K2529R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306924	NM_001367624.2(ZNF469):c.7846C>T (p.Arg2616Cys)	ZNF469 (R2616C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1762098	NM_001367624.2(ZNF469):c.8206G>A (p.Asp2736Asn)	ZNF469 (D2736N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1493732	NM_001367624.2(ZNF469):c.8548C>T (p.Pro2850Ser)	ZNF469 (P2850S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1482270	NM_001367624.2(ZNF469):c.8795_8796delinsAT (p.Ala2932Asp)	ZNF469 (A2932D)	Indel (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 126932	NM_001367624.2(ZNF469):c.8996G>T (p.Gly2999Val)	ZNF469 (G2999V)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1388989	NM_001367624.2(ZNF469):c.9019G>A (p.Asp3007Asn)	ZNF469 (D3007N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1335227	NM_001367624.2(ZNF469):c.9245C>G (p.Ala3082Gly)	ZNF469 (A3082G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1204076	NM_001367624.2(ZNF469):c.9269G>A (p.Arg3090Gln)	ZNF469 (R3090Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2683381	NM_001367624.2(ZNF469):c.9467G>A (p.Arg3156Gln)	ZNF469 (R3156Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315295	NM_001367624.2(ZNF469):c.9593C>T (p.Ala3198Val)	ZNF469 (A3198V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3380415	NM_001367624.2(ZNF469):c.9774A>C (p.Gln3258His)	ZNF469 (Q3258H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1702164	NM_001367624.2(ZNF469):c.9817C>T (p.Pro3273Ser)	ZNF469 (P3273S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 419987	NM_001367624.2(ZNF469):c.9850G>A (p.Gly3284Arg)	ZNF469 (G3284R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 2683382	NM_001367624.2(ZNF469):c.9902G>T (p.Ser3301Ile)	ZNF469 (S3301I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 424174	NM_001367624.2(ZNF469):c.10079G>T (p.Ser3360Ile)	LOC130059719, ZNF469 (S3360I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3258279	NM_001367624.2(ZNF469):c.10376C>T (p.Pro3459Leu)	ZNF469 (P3459L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2624536	NM_001367624.2(ZNF469):c.10870C>T (p.Arg3624Cys)	ZNF469 (R3624C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1361364	NM_001367624.2(ZNF469):c.11033G>A (p.Ser3678Asn)	ZNF469 (S3678N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 3344469	NM_001367624.2(ZNF469):c.11492_11502delinsA (p.Val3831fs)	ZNF469 (V3831fs)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 2683383	NM_001367624.2(ZNF469):c.11514del (p.Ser3839fs)	ZNF469 (S3839fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1298675	NM_001367624.2(ZNF469):c.11530C>T (p.Pro3844Ser)	ZNF469 (P3844S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2683384	NM_001367624.2(ZNF469):c.11737G>A (p.Gly3913Ser)	ZNF469 (G3913S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 54