"Illumina Laboratory Services, Illumina"[submitter] AND "ZNF469"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 320846	NM_001367624.2(ZNF469):c.62G>A (p.Arg21His)	ZNF469 (R21H)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +4 more	GBenign/Likely benign
Select item 320847	NM_001367624.2(ZNF469):c.81G>A (p.Pro27=)	ZNF469	Single nucleotide variant (synonymous variant)	ZNF469-related condition +3 more	GConflicting classifications of pathogenicity
Select item 320848	NM_001367624.2(ZNF469):c.98C>T (p.Pro33Leu)	ZNF469 (P33L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 320849	NM_001367624.2(ZNF469):c.139G>A (p.Gly47Ser)	ZNF469 (G47S)	Single nucleotide variant (missense variant)	ZNF469-related condition +4 more	GConflicting classifications of pathogenicity
Select item 320850	NM_001367624.2(ZNF469):c.142G>A (p.Ala48Thr)	ZNF469 (A48T)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1	GUncertain significance
Select item 320851	NM_001367624.2(ZNF469):c.376A>G (p.Ser126Gly)	ZNF469 (S126G)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 320852	NM_001367624.2(ZNF469):c.402C>T (p.Asp134=)	ZNF469	Single nucleotide variant (synonymous variant)	ZNF469-related condition +4 more	GConflicting classifications of pathogenicity
Select item 320853	NM_001367624.2(ZNF469):c.470G>A (p.Gly157Glu)	ZNF469 (G157E)	Single nucleotide variant (missense variant)	Joint hypermobility +9 more	GUncertain significance
Select item 320854	NM_001367624.2(ZNF469):c.609C>A (p.Pro203=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 320855	NM_001367624.2(ZNF469):c.627G>T (p.Gly209=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 320856	NM_001367624.2(ZNF469):c.699C>T (p.Asp233=)	ZNF469	Single nucleotide variant (synonymous variant)	Brittle cornea syndrome 1	GUncertain significance
Select item 320857	NM_001367624.2(ZNF469):c.725G>T (p.Ser242Ile)	ZNF469 (S242I)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 320858	NM_001367624.2(ZNF469):c.869C>T (p.Ala290Val)	ZNF469 (A290V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 320859	NM_001367624.2(ZNF469):c.942G>A (p.Pro314=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 320860	NM_001367624.2(ZNF469):c.951C>T (p.Ala317=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 320861	NM_001367624.2(ZNF469):c.952G>A (p.Val318Met)	ZNF469 (V318M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 126915	NM_001367624.2(ZNF469):c.1020C>T (p.Gly340=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 320862	NM_001367624.2(ZNF469):c.1048G>A (p.Asp350Asn)	ZNF469 (D350N)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 193177	NM_001367624.2(ZNF469):c.1069T>C (p.Ser357Pro)	ZNF469 (S357P)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +3 more	GBenign
Select item 193178	NM_001367624.2(ZNF469):c.1098A>C (p.Arg366Ser)	ZNF469 (R366S)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +3 more	GBenign
Select item 193170	NM_001367624.2(ZNF469):c.1143C>A (p.Pro381=)	ZNF469	Single nucleotide variant (synonymous variant)	Brittle cornea syndrome 1 +3 more	GBenign/Likely benign
Select item 282051	NM_001367624.2(ZNF469):c.1285G>A (p.Ala429Thr)	ZNF469 (A429T)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 320863	NM_001367624.2(ZNF469):c.1471G>A (p.Ala491Thr)	ZNF469 (A491T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 320864	NM_001367624.2(ZNF469):c.1489G>A (p.Gly497Arg)	ZNF469 (G497R)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 320865	NM_001367624.2(ZNF469):c.1528G>A (p.Gly510Ser)	ZNF469 (G510S)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +1 more	GUncertain significance
Select item 320866	NM_001367624.2(ZNF469):c.1529G>C (p.Gly510Ala)	ZNF469 (G510A)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 320867	NM_001367624.2(ZNF469):c.1547G>C (p.Gly516Ala)	ZNF469 (G516A)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1	GUncertain significance
Select item 320868	NM_001367624.2(ZNF469):c.1584G>A (p.Pro528=)	ZNF469	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +3 more	GConflicting classifications of pathogenicity
Select item 320869	NM_001367624.2(ZNF469):c.1615A>T (p.Ser539Cys)	ZNF469 (S539C)	Single nucleotide variant (missense variant)	ZNF469-related condition +4 more	GConflicting classifications of pathogenicity
Select item 320870	NM_001367624.2(ZNF469):c.1663G>A (p.Asp555Asn)	ZNF469 (D555N)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 283580	NM_001367624.2(ZNF469):c.1697C>T (p.Ala566Val)	ZNF469 (A566V)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 320871	NM_001367624.2(ZNF469):c.1719C>T (p.His573=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 320872	NM_001367624.2(ZNF469):c.1776A>G (p.Pro592=)	ZNF469	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 193171	NM_001367624.2(ZNF469):c.1827G>A (p.Ser609=)	ZNF469	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 320873	NM_001367624.2(ZNF469):c.1875C>A (p.Leu625=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 320874	NM_001367624.2(ZNF469):c.1882C>A (p.Pro628Thr)	ZNF469 (P628T)	Single nucleotide variant (missense variant)	ZNF469-related condition +3 more	GUncertain significance
Select item 320875	NM_001367624.2(ZNF469):c.1896G>A (p.Ser632=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 320876	NM_001367624.2(ZNF469):c.1932G>C (p.Thr644=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 320877	NM_001367624.2(ZNF469):c.1982A>G (p.Tyr661Cys)	ZNF469 (Y661C)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1	GUncertain significance
Select item 320878	NM_001367624.2(ZNF469):c.1994C>T (p.Pro665Leu)	ZNF469 (P665L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +3 more	GBenign/Likely 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 320880	NM_001367624.2(ZNF469):c.2035G>A (p.Glu679Lys)	ZNF469 (E679K)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 320881	NM_001367624.2(ZNF469):c.2085C>T (p.Pro695=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 320882	NM_001367624.2(ZNF469):c.2130T>C (p.Pro710=)	ZNF469	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 320883	NM_001367624.2(ZNF469):c.2132C>G (p.Pro711Arg)	ZNF469 (P711R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 282944	NM_001367624.2(ZNF469):c.2270T>G (p.Leu757Arg)	ZNF469 (L757R)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 320884	NM_001367624.2(ZNF469):c.2361C>G (p.His787Gln)	ZNF469 (H787Q)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1	GUncertain significance
Select item 320885	NM_001367624.2(ZNF469):c.2370G>A (p.Leu790=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 320886	NM_001367624.2(ZNF469):c.2407G>T (p.Ala803Ser)	ZNF469 (A803S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +3 more	GBenign/Likely benign
Select item 320887	NM_001367624.2(ZNF469):c.2574G>C (p.Pro858=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 320888	NM_001367624.2(ZNF469):c.2652C>G (p.Pro884=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 320889	NM_001367624.2(ZNF469):c.2666C>T (p.Ala889Val)	ZNF469 (A889V)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +3 more	GBenign/Likely benign
Select item 320890	NM_001367624.2(ZNF469):c.2693C>T (p.Pro898Leu)	ZNF469 (P898L)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 126922	NM_001367624.2(ZNF469):c.2699C>T (p.Pro900Leu)	ZNF469 (P900L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 193172	NM_001367624.2(ZNF469):c.2717C>T (p.Pro906Leu)	ZNF469 (P906L)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 320891	NM_001367624.2(ZNF469):c.2803G>A (p.Glu935Lys)	ZNF469 (E935K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 320892	NM_001367624.2(ZNF469):c.2810A>T (p.Asp937Val)	ZNF469 (D937V)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 286550	NM_001367624.2(ZNF469):c.2814G>A (p.Ala938=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 320893	NM_001367624.2(ZNF469):c.2873T>C (p.Leu958Pro)	ZNF469 (L958P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 320894	NM_001367624.2(ZNF469):c.2908GGC[2] (p.Gly972_Gly973del)	ZNF469	Microsatellite (inframe_deletion)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 320895	NM_001367624.2(ZNF469):c.2913C>A (p.Gly971=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 320896	NM_001367624.2(ZNF469):c.2929G>C (p.Gly977Arg)	ZNF469 (G977R)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1	GUncertain significance
Select item 320897	NM_001367624.2(ZNF469):c.2931C>T (p.Gly977=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 320898	NM_001367624.2(ZNF469):c.2948ACG[1] (p.Asp984del)	ZNF469 (D984del)	Microsatellite (inframe_deletion)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 320899	NM_001367624.2(ZNF469):c.2952C>T (p.Asp984=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 320900	NM_001367624.2(ZNF469):c.2953G>A (p.Gly985Ser)	ZNF469 (G985S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 320901	NM_001367624.2(ZNF469):c.2986C>A (p.Arg996Ser)	ZNF469 (R996S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 320902	NM_001367624.2(ZNF469):c.3125G>A (p.Arg1042Gln)	ZNF469 (R1042Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 193173	NM_001367624.2(ZNF469):c.3153T>C (p.Ile1051=)	LOC130059718, ZNF469	Single nucleotide variant (synonymous variant)	Brittle cornea syndrome 1 +3 more	GBenign
Select item 320903	NM_001367624.2(ZNF469):c.3183C>T (p.Arg1061=)	LOC130059718, ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 320904	NM_001367624.2(ZNF469):c.3255G>C (p.Glu1085Asp)	LOC130059718, ZNF469 (E1085D)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1	GUncertain significance
Select item 320905	NM_001367624.2(ZNF469):c.3321G>A (p.Arg1107=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 320906	NM_001367624.2(ZNF469):c.3326C>T (p.Pro1109Leu)	ZNF469 (P1109L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 320907	NM_001367624.2(ZNF469):c.3472C>T (p.Pro1158Ser)	ZNF469 (P1158S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 320908	NM_001367624.2(ZNF469):c.3485G>T (p.Arg1162Leu)	ZNF469 (R1162L)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1	GUncertain significance
Select item 320909	NM_001367624.2(ZNF469):c.3506C>T (p.Pro1169Leu)	ZNF469 (P1169L)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 285443	NM_001367624.2(ZNF469):c.3516T>C (p.Arg1172=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 285444	NM_001367624.2(ZNF469):c.3522G>A (p.Pro1174=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 320910	NM_001367624.2(ZNF469):c.3565C>A (p.Pro1189Thr)	ZNF469 (P1189T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 285445	NM_001367624.2(ZNF469):c.3568A>G (p.Lys1190Glu)	ZNF469 (K1190E)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 235813	NM_001367624.2(ZNF469):c.3650C>T (p.Pro1217Leu)	ZNF469 (P1217L)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 320911	NM_001367624.2(ZNF469):c.3776G>A (p.Ser1259Asn)	ZNF469 (S1259N)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1	GUncertain significance
Select item 320912	NM_001367624.2(ZNF469):c.3894G>C (p.Val1298=)	ZNF469	Single nucleotide variant (synonymous variant)	Brittle cornea syndrome 1 +4 more	GBenign/Likely benign
Select item 320913	NM_001367624.2(ZNF469):c.3918G>A (p.Gly1306=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 320914	NM_001367624.2(ZNF469):c.3931C>T (p.Pro1311Ser)	ZNF469 (P1311S)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 320915	NM_001367624.2(ZNF469):c.3950A>G (p.Lys1317Arg)	ZNF469 (K1317R)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 320916	NM_001367624.2(ZNF469):c.4195C>T (p.His1399Tyr)	ZNF469 (H1399Y)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1	GUncertain significance
Select item 320917	NM_001367624.2(ZNF469):c.4198C>A (p.Pro1400Thr)	ZNF469 (P1400T)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 320918	NM_001367624.2(ZNF469):c.4216G>T (p.Asp1406Tyr)	ZNF469 (D1406Y)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 320919	NM_001367624.2(ZNF469):c.4227G>A (p.Pro1409=)	ZNF469	Single nucleotide variant (synonymous variant)	Brittle cornea syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 281205	NM_001367624.2(ZNF469):c.4343C>T (p.Pro1448Leu)	ZNF469 (P1448L)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 320920	NM_001367624.2(ZNF469):c.4363C>G (p.Leu1455Val)	ZNF469 (L1455V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 320921	NM_001367624.2(ZNF469):c.4376T>G (p.Leu1459Arg)	ZNF469 (L1459R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 320922	NM_001367624.2(ZNF469):c.4406A>G (p.Tyr1469Cys)	ZNF469 (Y1469C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 285042	NM_001367624.2(ZNF469):c.4419T>G (p.Ser1473=)	ZNF469	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 195126	NM_001367624.2(ZNF469):c.4421C>T (p.Ala1474Val)	ZNF469 (A1474V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 320923	NM_001367624.2(ZNF469):c.4434C>T (p.Ser1478=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 320924	NM_001367624.2(ZNF469):c.4456G>A (p.Asp1486Asn)	ZNF469 (D1486N)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 281900	NM_001367624.2(ZNF469):c.4472C>T (p.Thr1491Met)	ZNF469 (T1491M)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 320925	NM_001367624.2(ZNF469):c.4479G>A (p.Pro1493=)	ZNF469	Single nucleotide variant (synonymous variant)	Brittle cornea syndrome 1 +3 more	GConflicting classifications of pathogenicity

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