"GeneDx"[submitter] AND "ZNF469"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59521	GRCh38/hg38 16q24.2-24.3(chr16:88159660-89506042)x1	ACSF3, ANKRD11 +160 more	Copy number loss	See cases	GPathogenic
Select item 390584	NM_001127464.2(ZNF469):c.-18C>A	ZNF469	Single nucleotide variant (genic upstream transcript variant)	not specified	GLikely benign
Select item 1012873	NM_001367624.2(ZNF469):c.-2C>T	ZNF469	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 1310537	NM_001367624.2(ZNF469):c.1A>G (p.Met1Val)	ZNF469 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 387713	NM_001367624.2(ZNF469):c.19C>T (p.Arg7Ter)	ZNF469 (R7*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1213103	NM_001367624.2(ZNF469):c.24A>G (p.Gly8=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1191146	NM_001367624.2(ZNF469):c.26C>T (p.Ala9Val)	ZNF469 (A9V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 510902	NM_001367624.2(ZNF469):c.30G>A (p.Pro10=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1381553	NM_001367624.2(ZNF469):c.61C>T (p.Arg21Cys)	ZNF469 (R21C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 320846	NM_001367624.2(ZNF469):c.62G>A (p.Arg21His)	ZNF469 (R21H)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 393208	NM_001367624.2(ZNF469):c.80C>T (p.Pro27Leu)	ZNF469 (P27L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +2 more	GConflicting classifications of pathogenicity
Select item 320847	NM_001367624.2(ZNF469):c.81G>A (p.Pro27=)	ZNF469	Single nucleotide variant (synonymous variant)	Brittle cornea syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 512159	NM_001367624.2(ZNF469):c.135C>T (p.Thr45=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 320849	NM_001367624.2(ZNF469):c.139G>A (p.Gly47Ser)	ZNF469 (G47S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 514884	NM_001367624.2(ZNF469):c.183C>T (p.Pro61=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 449809	NM_001367624.2(ZNF469):c.186G>T (p.Glu62Asp)	ZNF469 (E62D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2446281	NM_001367624.2(ZNF469):c.192G>C (p.Gln64His)	ZNF469 (Q64H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 871977	NM_001367624.2(ZNF469):c.216G>T (p.Glu72Asp)	ZNF469 (E72D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 517902	NM_001367624.2(ZNF469):c.222G>A (p.Lys74=)	ZNF469	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 193175	NM_001367624.2(ZNF469):c.248C>T (p.Pro83Leu)	ZNF469 (P83L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1300419	NM_001367624.2(ZNF469):c.249G>A (p.Pro83=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1218458	NM_001367624.2(ZNF469):c.266A>G (p.Lys89Arg)	ZNF469 (K89R)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 517941	NM_001367624.2(ZNF469):c.327G>A (p.Ala109=)	ZNF469	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +3 more	GBenign/Likely benign
Select item 451642	NM_001367624.2(ZNF469):c.334G>A (p.Ala112Thr)	ZNF469 (A112T)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1326036	NM_001367624.2(ZNF469):c.355C>T (p.Arg119Cys)	ZNF469 (R119C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 320852	NM_001367624.2(ZNF469):c.402C>T (p.Asp134=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 444381	NM_001367624.2(ZNF469):c.457C>A (p.Pro153Thr)	ZNF469 (P153T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 193174	NM_001367624.2(ZNF469):c.457C>G (p.Pro153Ala)	ZNF469 (P153A)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 320853	NM_001367624.2(ZNF469):c.470G>A (p.Gly157Glu)	ZNF469 (G157E)	Single nucleotide variant (missense variant)	Myopia +9 more	GUncertain significance
Select item 1218796	NM_001367624.2(ZNF469):c.491C>T (p.Pro164Leu)	ZNF469 (P164L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 390364	NM_001367624.2(ZNF469):c.519C>G (p.Pro173=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 426446	NM_001367624.2(ZNF469):c.523G>A (p.Ala175Thr)	ZNF469 (A175T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2430952	NM_001367624.2(ZNF469):c.535G>A (p.Gly179Ser)	ZNF469 (G179S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 423800	NM_001367624.2(ZNF469):c.536G>C (p.Gly179Ala)	ZNF469 (G179A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 451048	NM_001367624.2(ZNF469):c.578C>A (p.Ser193Tyr)	ZNF469 (S193Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 452044	NM_001367624.2(ZNF469):c.585C>G (p.Asn195Lys)	ZNF469 (N195K)	Single nucleotide variant (missense variant)	ZNF469-related disorder +2 more	GUncertain significance
Select item 1197661	NM_001367624.2(ZNF469):c.608C>T (p.Pro203Leu)	ZNF469 (P203L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 320854	NM_001367624.2(ZNF469):c.609C>A (p.Pro203=)	ZNF469	Single nucleotide variant (synonymous variant)	Brittle cornea syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 320855	NM_001367624.2(ZNF469):c.627G>T (p.Gly209=)	ZNF469	Single nucleotide variant (synonymous variant)	Brittle cornea syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 1200943	NM_001367624.2(ZNF469):c.633C>A (p.Pro211=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1211018	NM_001367624.2(ZNF469):c.664G>A (p.Gly222Ser)	ZNF469 (G222S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1304736	NM_001367624.2(ZNF469):c.676G>A (p.Glu226Lys)	ZNF469 (E226K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1307841	NM_001367624.2(ZNF469):c.682C>G (p.Gln228Glu)	ZNF469 (Q228E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1195524	NM_001367624.2(ZNF469):c.697G>A (p.Asp233Asn)	ZNF469 (D233N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 287709	NM_001367624.2(ZNF469):c.725_726delinsTT (p.Ser242Ile)	ZNF469 (S242I)	Indel (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1421572	NM_001367624.2(ZNF469):c.737C>T (p.Ala246Val)	ZNF469 (A246V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1212320	NM_001367624.2(ZNF469):c.745G>A (p.Gly249Arg)	ZNF469 (G249R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 451953	NM_001367624.2(ZNF469):c.749T>A (p.Val250Asp)	ZNF469 (V250D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 379787	NM_001367624.2(ZNF469):c.751C>A (p.Pro251Thr)	ZNF469 (P251T)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 513514	NM_001367624.2(ZNF469):c.756C>T (p.Pro252=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 509226	NM_001367624.2(ZNF469):c.759C>T (p.Ala253=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1759971	NM_001367624.2(ZNF469):c.764C>T (p.Pro255Leu)	ZNF469 (P255L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2576776	NM_001367624.2(ZNF469):c.773T>C (p.Ile258Thr)	ZNF469 (I258T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1218273	NM_001367624.2(ZNF469):c.812T>C (p.Val271Ala)	ZNF469 (V271A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1203362	NM_001367624.2(ZNF469):c.845G>A (p.Gly282Glu)	ZNF469 (G282E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 512380	NM_001367624.2(ZNF469):c.885C>T (p.His295=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1525593	NM_001367624.2(ZNF469):c.886G>A (p.Ala296Thr)	ZNF469 (A296T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 808120	NM_001367624.2(ZNF469):c.891C>G (p.Phe297Leu)	ZNF469 (F297L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 1212564	NM_001367624.2(ZNF469):c.943G>A (p.Glu315Lys)	ZNF469 (E315K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 283545	NM_001367624.2(ZNF469):c.946G>A (p.Glu316Lys)	ZNF469 (E316K)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 320861	NM_001367624.2(ZNF469):c.952G>A (p.Val318Met)	ZNF469 (V318M)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1191196	NM_001367624.2(ZNF469):c.959C>T (p.Thr320Met)	ZNF469 (T320M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 509094	NM_001367624.2(ZNF469):c.963C>T (p.Gly321=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1305683	NM_001367624.2(ZNF469):c.974C>T (p.Pro325Leu)	ZNF469 (P325L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 426589	NM_001367624.2(ZNF469):c.992C>T (p.Ala331Val)	ZNF469 (A331V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 511296	NM_001367624.2(ZNF469):c.1005G>A (p.Leu335=)	ZNF469	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 126915	NM_001367624.2(ZNF469):c.1020C>T (p.Gly340=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1307284	NM_001367624.2(ZNF469):c.1047C>G (p.Ser349Arg)	ZNF469 (S349R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306633	NM_001367624.2(ZNF469):c.1058G>C (p.Gly353Ala)	ZNF469 (G353A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1300563	NM_001367624.2(ZNF469):c.1065C>G (p.Leu355=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 392679	NM_001367624.2(ZNF469):c.1065C>A (p.Leu355=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +2 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 424079	NM_001367624.2(ZNF469):c.1072C>T (p.Pro358Ser)	ZNF469 (P358S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2444711	NM_001367624.2(ZNF469):c.1073C>G (p.Pro358Arg)	ZNF469 (P358R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 193176	NM_001367624.2(ZNF469):c.1088C>T (p.Ser363Leu)	ZNF469 (S363L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1436876	NM_001367624.2(ZNF469):c.1090G>A (p.Ala364Thr)	ZNF469 (A364T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 509997	NM_001367624.2(ZNF469):c.1095G>T (p.Pro365=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 193178	NM_001367624.2(ZNF469):c.1098A>C (p.Arg366Ser)	ZNF469 (R366S)	Single nucleotide variant (missense variant)	not specified +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 1420226	NM_001367624.2(ZNF469):c.1181C>T (p.Thr394Met)	ZNF469 (T394M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1695796	NM_001367624.2(ZNF469):c.1204C>G (p.Pro402Ala)	ZNF469 (P402A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2446266	NM_001367624.2(ZNF469):c.1255A>C (p.Ser419Arg)	ZNF469 (S419R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1203207	NM_001367624.2(ZNF469):c.1275C>T (p.Thr425=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1178634	NM_001367624.2(ZNF469):c.1284C>T (p.Ala428=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 282051	NM_001367624.2(ZNF469):c.1285G>A (p.Ala429Thr)	ZNF469 (A429T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 493197	NM_001367624.2(ZNF469):c.1346C>T (p.Pro449Leu)	ZNF469 (P449L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806767	NM_001367624.2(ZNF469):c.1354C>T (p.Pro452Ser)	ZNF469 (P452S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429499	NM_001367624.2(ZNF469):c.1381A>T (p.Ser461Cys)	ZNF469 (S461C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1341624	NM_001367624.2(ZNF469):c.1397G>C (p.Gly466Ala)	ZNF469 (G466A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 506649	NM_001367624.2(ZNF469):c.1406G>C (p.Ser469Thr)	ZNF469 (S469T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1303659	NM_001367624.2(ZNF469):c.1409C>G (p.Pro470Arg)	ZNF469 (P470R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1201369	NM_001367624.2(ZNF469):c.1445T>C (p.Leu482Pro)	ZNF469 (L482P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 320863	NM_001367624.2(ZNF469):c.1471G>A (p.Ala491Thr)	ZNF469 (A491T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +3 more	GConflicting classifications of pathogenicity
Select item 808122	NM_001367624.2(ZNF469):c.1475G>A (p.Arg492Gln)	ZNF469 (R492Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 429651	NM_001367624.2(ZNF469):c.1483C>T (p.Pro495Ser)	ZNF469 (P495S)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +4 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 specified +3 more	GBenign/Likely benign
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 1302603	NM_001367624.2(ZNF469):c.1507C>T (p.Arg503Trp)	ZNF469 (R503W)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +2 more	GUncertain significance

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