ClinVar for MedGen (Select 78661) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 429

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068553	NM_001367624.2(ZNF469):c.11353del (p.Gln3785fs)	ZNF469 (Q3785fs)	Deletion (frameshift variant)	Brittle cornea syndrome 1	GUncertain significance
Select item 3064427	NM_001367624.2(ZNF469):c.2150del (p.Phe717fs)	ZNF469 (F717fs)	Deletion (frameshift variant)	Brittle cornea syndrome 1	GUncertain significance
Select item 2503971	NM_001367624.2(ZNF469):c.5613_5622del (p.Arg1871fs)	ZNF469 (R1871fs)	Deletion (frameshift variant)	Brittle cornea syndrome 1	GLikely pathogenic
Select item 2501120	NM_001367624.2(ZNF469):c.7874_7877dup (p.His2626fs)	ZNF469 (H2626fs)	Duplication (frameshift variant)	Brittle cornea syndrome 1	GLikely pathogenic
Select item 2500113	NM_001367624.2(ZNF469):c.10744G>C (p.Ala3582Pro)	ZNF469 (A3582P)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1	GUncertain significance
Select item 2438689	NM_001367624.2(ZNF469):c.10106G>C (p.Arg3369Pro)	LOC130059719, ZNF469 (R3369P)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1	GUncertain significance
Select item 2438688	NM_001367624.2(ZNF469):c.4435G>C (p.Gly1479Arg)	ZNF469 (G1479R)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1	GUncertain significance
Select item 2429181	NM_001367624.2(ZNF469):c.4112dup (p.Pro1373fs)	ZNF469 (P1373fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2429180	NM_001367624.2(ZNF469):c.5402del (p.Val1801fs)	ZNF469 (V1801fs)	Deletion (frameshift variant)	Brittle cornea syndrome 1	GLikely pathogenic
Select item 2428259	NM_001367624.2(ZNF469):c.310G>A (p.Ala104Thr)	ZNF469 (A104T)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +1 more	GUncertain significance
Select item 1806143	NM_001367624.2(ZNF469):c.1829C>T (p.Pro610Leu)	ZNF469 (P610L)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1	GUncertain significance
Select item 1797609	NM_001367624.2(ZNF469):c.2914G>A (p.Gly972Ser)	ZNF469 (G972S)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +1 more	GUncertain significance
Select item 1757343	NM_001367624.2(ZNF469):c.713C>T (p.Ala238Val)	ZNF469 (A238V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1684197	NM_001367624.2(ZNF469):c.8543A>G (p.Asp2848Gly)	ZNF469 (D2848G)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1	GBenign
Select item 1684149	NM_001367624.2(ZNF469):c.10805C>T (p.Pro3602Leu)	ZNF469 (P3602L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1683566	NM_001367624.2(ZNF469):c.5789A>G (p.Gln1930Arg)	ZNF469 (Q1930R)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1	GUncertain significance
Select item 1683288	NM_001367624.2(ZNF469):c.8428del (p.Ala2810fs)	ZNF469 (A2810fs)	Deletion (frameshift variant)	Brittle cornea syndrome 1	GLikely pathogenic
Select item 1679282	NM_001367624.2(ZNF469):c.10354G>A (p.Gly3452Ser)	ZNF469 (G3452S)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +2 more	GUncertain significance
Select item 1675640	NM_001367624.2(ZNF469):c.7595G>T (p.Arg2532Met)	ZNF469 (R2532M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1675158	NM_001367624.2(ZNF469):c.3611A>G (p.Gln1204Arg)	ZNF469 (Q1204R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1675157	NM_001367624.2(ZNF469):c.1799C>T (p.Thr600Met)	ZNF469 (T600M)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1	GUncertain significance
Select item 1675156	NM_001367624.2(ZNF469):c.11016G>T (p.Lys3672Asn)	ZNF469 (K3672N)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1	GUncertain significance
Select item 1653318	NM_001367624.2(ZNF469):c.7635C>T (p.Asp2545=)	ZNF469	Single nucleotide variant (synonymous variant)	Brittle cornea syndrome 1 +1 more	GLikely benign
Select item 1575167	NM_001367624.2(ZNF469):c.4947G>A (p.Ala1649=)	ZNF469	Single nucleotide variant (synonymous variant)	Brittle cornea syndrome 1 +2 more	GLikely benign
Select item 1524095	NM_001367624.2(ZNF469):c.11038T>A (p.Ser3680Thr)	ZNF469 (S3680T)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +1 more	GUncertain significance
Select item 1480439	NM_001367624.2(ZNF469):c.9941A>G (p.Asp3314Gly)	ZNF469 (D3314G)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +1 more	GUncertain significance
Select item 1444075	NM_001367624.2(ZNF469):c.941C>T (p.Pro314Leu)	ZNF469 (P314L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1432811	NM_001367624.2(ZNF469):c.9923C>A (p.Thr3308Asn)	ZNF469 (T3308N)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +1 more	GUncertain significance
Select item 1421761	NM_001367624.2(ZNF469):c.10373C>G (p.Ala3458Gly)	ZNF469 (A3458G)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +2 more	GUncertain significance
Select item 1388989	NM_001367624.2(ZNF469):c.9019G>A (p.Asp3007Asn)	ZNF469 (D3007N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1385261	NM_001367624.2(ZNF469):c.765_770dup (p.254EP[3])	ZNF469	Duplication (inframe_insertion)	not provided +1 more	GUncertain significance
Select item 1370950	NM_001367624.2(ZNF469):c.9320C>T (p.Pro3107Leu)	ZNF469 (P3107L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1363096	NM_001367624.2(ZNF469):c.8350C>T (p.Arg2784Ter)	ZNF469 (R2784*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1362386	NM_001367624.2(ZNF469):c.4972T>A (p.Trp1658Arg)	ZNF469 (W1658R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +3 more	GUncertain significance
Select item 1348291	NM_001367624.2(ZNF469):c.4447G>A (p.Ala1483Thr)	ZNF469 (A1483T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1339824	NM_001367624.2(ZNF469):c.8048G>A (p.Gly2683Glu)	ZNF469 (G2683E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1339823	NM_001367624.2(ZNF469):c.3332T>C (p.Phe1111Ser)	ZNF469 (F1111S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1331466	NM_001367624.2(ZNF469):c.10707C>A (p.Cys3569Ter)	ZNF469 (C3569*)	Single nucleotide variant (nonsense)	Brittle cornea syndrome 1	GLikely pathogenic
Select item 1315368	NM_001367624.2(ZNF469):c.7312C>G (p.Pro2438Ala)	ZNF469 (P2438A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1304736	NM_001367624.2(ZNF469):c.676G>A (p.Glu226Lys)	ZNF469 (E226K)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 1301577	NM_001367624.2(ZNF469):c.7340G>C (p.Arg2447Thr)	ZNF469 (R2447T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1261653	NM_001367624.2(ZNF469):c.8625_8627delinsACG (p.His2876Arg)	ZNF469 (H2876R)	Indel (missense variant)	Brittle cornea syndrome 1 +2 more	GBenign/Likely benign
Select item 1216235	NM_001367624.2(ZNF469):c.11137C>T (p.Arg3713Cys)	ZNF469 (R3713C)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1215112	NM_001367624.2(ZNF469):c.5537C>T (p.Thr1846Met)	ZNF469 (T1846M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 1214758	NM_001367624.2(ZNF469):c.5862C>T (p.Pro1954=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 1212320	NM_001367624.2(ZNF469):c.745G>A (p.Gly249Arg)	ZNF469 (G249R)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 1200803	NM_001367624.2(ZNF469):c.10199C>T (p.Pro3400Leu)	ZNF469 (P3400L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1200235	NM_001367624.2(ZNF469):c.11262C>T (p.Ser3754=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1198862	NM_001367624.2(ZNF469):c.6414G>T (p.Ser2138=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 1198359	NM_001367624.2(ZNF469):c.8458G>A (p.Gly2820Ser)	ZNF469 (G2820S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +3 more	GUncertain significance
Select item 1197479	NM_001367624.2(ZNF469):c.3504C>T (p.Ser1168=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 1190516	NM_001367624.2(ZNF469):c.7102G>A (p.Gly2368Ser)	ZNF469 (G2368S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1183383	NM_001367624.2(ZNF469):c.4507C>G (p.Leu1503Val)	ZNF469 (L1503V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1176355	NM_001367624.2(ZNF469):c.10717G>A (p.Gly3573Arg)	ZNF469 (G3573R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1031851	NM_001367624.2(ZNF469):c.9473T>C (p.Leu3158Pro)	ZNF469 (L3158P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1031849	NM_001367624.2(ZNF469):c.11164G>A (p.Ala3722Thr)	ZNF469 (A3722T)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1031848	NM_001367624.2(ZNF469):c.10420C>T (p.Arg3474Trp)	ZNF469 (R3474W)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1029107	NM_001367624.2(ZNF469):c.8438C>A (p.Thr2813Asn)	ZNF469 (T2813N)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1	GUncertain significance
Select item 1029106	NM_001367624.2(ZNF469):c.6978CTC[1] (p.Ser2328del)	ZNF469 (S2328del)	Microsatellite (inframe_deletion)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1029105	NM_001367624.2(ZNF469):c.5297G>A (p.Arg1766Gln)	ZNF469 (R1766Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1029104	NM_001367624.2(ZNF469):c.4258G>A (p.Glu1420Lys)	ZNF469 (E1420K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1029103	NM_001367624.2(ZNF469):c.3482C>A (p.Ser1161Tyr)	ZNF469 (S1161Y)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1	GUncertain significance
Select item 1029102	NM_001367624.2(ZNF469):c.10811C>T (p.Pro3604Leu)	ZNF469 (P3604L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 981041	NM_001367624.2(ZNF469):c.3307C>T (p.Gln1103Ter)	ZNF469 (Q1103*)	Single nucleotide variant (nonsense)	Brittle cornea syndrome 1	GPathogenic
Select item 981040	NM_001367624.2(ZNF469):c.1586del (p.Gly529fs)	ZNF469 (G529fs)	Deletion (frameshift variant)	Brittle cornea syndrome 1	GLikely pathogenic
Select item 981039	NM_001367624.2(ZNF469):c.1081del (p.Ala361fs)	ZNF469 (A361fs)	Deletion (frameshift variant)	Brittle cornea syndrome 1	GLikely pathogenic
Select item 981038	NM_001367624.2(ZNF469):c.9876dup (p.Ala3293fs)	ZNF469 (A3293fs)	Duplication (frameshift variant)	Brittle cornea syndrome 1	GLikely pathogenic
Select item 981037	NM_001367624.2(ZNF469):c.1444del (p.Leu482fs)	ZNF469 (L482fs)	Deletion (frameshift variant)	Brittle cornea syndrome 1	GPathogenic
Select item 872523	NM_001367624.2(ZNF469):c.11318G>A (p.Arg3773Gln)	ZNF469 (R3773Q)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +2 more	GConflicting classifications of pathogenicity
Select item 872522	NM_001367624.2(ZNF469):c.10324del (p.Arg3442fs)	ZNF469 (R3442fs)	Deletion (frameshift variant)	Brittle cornea syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 808137	NM_001367624.2(ZNF469):c.11545C>T (p.Arg3849Trp)	ZNF469 (R3849W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 684503	NM_001367624.2(ZNF469):c.5779C>T (p.Pro1927Ser)	ZNF469 (P1927S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 684473	NM_001367624.2(ZNF469):c.1268C>T (p.Pro423Leu)	ZNF469 (P423L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 626208	NM_001367624.2(ZNF469):c.5114C>T (p.Thr1705Ile)	ZNF469 (T1705I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 545672	NM_001367624.2(ZNF469):c.11821A>C (p.Thr3941Pro)	ZNF469 (T3941P)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1	GUncertain significance
Select item 523412	NM_001367624.2(ZNF469):c.9532G>A (p.Gly3178Ser)	ZNF469 (G3178S)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +8 more	GUncertain significance
Select item 523411	NM_001367624.2(ZNF469):c.2569A>G (p.Asn857Asp)	ZNF469 (N857D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GUncertain significance
Select item 517941	NM_001367624.2(ZNF469):c.327G>A (p.Ala109=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 512512	NM_001367624.2(ZNF469):c.6800G>A (p.Arg2267Gln)	ZNF469 (R2267Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 511525	NM_001367624.2(ZNF469):c.3714C>T (p.Ser1238=)	ZNF469	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 508242	NM_001367624.2(ZNF469):c.8064C>T (p.Asp2688=)	ZNF469	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +4 more	GConflicting classifications of pathogenicity
Select item 506516	NM_001367624.2(ZNF469):c.11244C>T (p.Ser3748=)	ZNF469	Single nucleotide variant (synonymous variant)	ZNF469-related condition +3 more	GBenign/Likely benign
Select item 506471	NM_001367624.2(ZNF469):c.7935G>A (p.Glu2645=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 506449	NM_001367624.2(ZNF469):c.8868C>T (p.Pro2956=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 506438	NM_001367624.2(ZNF469):c.6036G>A (p.Thr2012=)	ZNF469	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 506388	NM_001367624.2(ZNF469):c.5824G>A (p.Gly1942Arg)	ZNF469 (G1942R)	Single nucleotide variant (missense variant)	Brittle cornea syndrome 1 +2 more	GBenign/Likely benign
Select item 493198	NM_001367624.2(ZNF469):c.3341G>T (p.Arg1114Leu)	ZNF469 (R1114L)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 453138	NM_001367624.2(ZNF469):c.1856G>T (p.Ser619Ile)	ZNF469 (S619I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 452969	NM_001367624.2(ZNF469):c.4771G>T (p.Ala1591Ser)	ZNF469 (A1591S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 452230	NM_001367624.2(ZNF469):c.9316C>T (p.Arg3106Trp)	ZNF469 (R3106W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 452045	NM_001367624.2(ZNF469):c.8599G>A (p.Gly2867Ser)	ZNF469 (G2867S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 452044	NM_001367624.2(ZNF469):c.585C>G (p.Asn195Lys)	ZNF469 (N195K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 451353	NM_001367624.2(ZNF469):c.10762G>A (p.Gly3588Arg)	ZNF469 (G3588R)	Single nucleotide variant (missense variant)	not provided +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)	not provided +3 more	GBenign/Likely benign
Select item 432202	NM_001367624.2(ZNF469):c.7611G>C (p.Glu2537Asp)	ZNF469 (E2537D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 429662	NM_001367624.2(ZNF469):c.8705C>T (p.Thr2902Met)	ZNF469 (T2902M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 429651	NM_001367624.2(ZNF469):c.1483C>T (p.Pro495Ser)	ZNF469 (P495S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 426561	NM_001367624.2(ZNF469):c.11714C>G (p.Pro3905Arg)	ZNF469 (P3905R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 426323	NM_001367624.2(ZNF469):c.5414C>A (p.Pro1805His)	ZNF469 (P1805H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 426116	NM_001367624.2(ZNF469):c.3452C>T (p.Ala1151Val)	ZNF469 (A1151V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance

<< First< Prev

Page of 5