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Links from MedGen

Items: 1 to 100 of 429

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZNF469
(Q3785fs)
Deletion
(frameshift variant)
Brittle cornea syndrome 1
GUncertain significance
ZNF469
(F717fs)
Deletion
(frameshift variant)
Brittle cornea syndrome 1
GUncertain significance
ZNF469
(R1871fs)
Deletion
(frameshift variant)
Brittle cornea syndrome 1
GLikely pathogenic
ZNF469
(H2626fs)
Duplication
(frameshift variant)
Brittle cornea syndrome 1
GLikely pathogenic
ZNF469
(A3582P)
Single nucleotide variant
(missense variant)
Brittle cornea syndrome 1
GUncertain significance
LOC130059719, ZNF469
(R3369P)
Single nucleotide variant
(missense variant)
Brittle cornea syndrome 1
GUncertain significance
ZNF469
(G1479R)
Single nucleotide variant
(missense variant)
Brittle cornea syndrome 1
GUncertain significance
ZNF469
(P1373fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ZNF469
(V1801fs)
Deletion
(frameshift variant)
Brittle cornea syndrome 1
GLikely pathogenic
ZNF469
(A104T)
Single nucleotide variant
(missense variant)
Brittle cornea syndrome 1
+1 more
GUncertain significance
ZNF469
(P610L)
Single nucleotide variant
(missense variant)
Brittle cornea syndrome 1
GUncertain significance
ZNF469
(G972S)
Single nucleotide variant
(missense variant)
Brittle cornea syndrome 1
+1 more
GUncertain significance
ZNF469
(A238V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
ZNF469
(D2848G)
Single nucleotide variant
(missense variant)
Brittle cornea syndrome 1
GBenign
ZNF469
(P3602L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
ZNF469
(Q1930R)
Single nucleotide variant
(missense variant)
Brittle cornea syndrome 1
GUncertain significance
ZNF469
(A2810fs)
Deletion
(frameshift variant)
Brittle cornea syndrome 1
GLikely pathogenic
ZNF469
(G3452S)
Single nucleotide variant
(missense variant)
Brittle cornea syndrome 1
+2 more
GUncertain significance
ZNF469
(R2532M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
ZNF469
(Q1204R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
ZNF469
(T600M)
Single nucleotide variant
(missense variant)
Brittle cornea syndrome 1
GUncertain significance
ZNF469
(K3672N)
Single nucleotide variant
(missense variant)
Brittle cornea syndrome 1
GUncertain significance
ZNF469
Single nucleotide variant
(synonymous variant)
Brittle cornea syndrome 1
+1 more
GLikely benign
ZNF469
Single nucleotide variant
(synonymous variant)
Brittle cornea syndrome 1
+2 more
GLikely benign
ZNF469
(S3680T)
Single nucleotide variant
(missense variant)
Brittle cornea syndrome 1
+1 more
GUncertain significance
ZNF469
(D3314G)
Single nucleotide variant
(missense variant)
Brittle cornea syndrome 1
+1 more
GUncertain significance
ZNF469
(P314L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
ZNF469
(T3308N)
Single nucleotide variant
(missense variant)
Brittle cornea syndrome 1
+1 more
GUncertain significance
ZNF469
(A3458G)
Single nucleotide variant
(missense variant)
Brittle cornea syndrome 1
+2 more
GUncertain significance
ZNF469
(D3007N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
ZNF469
Duplication
(inframe_insertion)
not provided
+1 more
GUncertain significance
ZNF469
(P3107L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ZNF469
(R2784*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
ZNF469
(W1658R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
+3 more
GUncertain significance
ZNF469
(A1483T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ZNF469
(G2683E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZNF469
(F1111S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
ZNF469
(C3569*)
Single nucleotide variant
(nonsense)
Brittle cornea syndrome 1
GLikely pathogenic
ZNF469
(P2438A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
ZNF469
(E226K)
Single nucleotide variant
(missense variant)
Brittle cornea syndrome 1
+2 more
GConflicting classifications of pathogenicity
ZNF469
(R2447T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
ZNF469
(H2876R)
Indel
(missense variant)
Brittle cornea syndrome 1
+2 more
GBenign/Likely benign
ZNF469
(R3713C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
ZNF469
(T1846M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
ZNF469
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
ZNF469
(G249R)
Single nucleotide variant
(missense variant)
Brittle cornea syndrome 1
+2 more
GConflicting classifications of pathogenicity
ZNF469
(P3400L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ZNF469
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
ZNF469
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GBenign/Likely benign
ZNF469
(G2820S)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
+3 more
GUncertain significance
ZNF469
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GBenign/Likely benign
ZNF469
(G2368S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
ZNF469
(L1503V)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
+3 more
GConflicting classifications of pathogenicity
ZNF469
(G3573R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
ZNF469
(L3158P)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
ZNF469
(A3722T)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
+3 more
GConflicting classifications of pathogenicity
ZNF469
(R3474W)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ZNF469
(T2813N)
Single nucleotide variant
(missense variant)
Brittle cornea syndrome 1
GUncertain significance
ZNF469
(S2328del)
Microsatellite
(inframe_deletion)
Cardiovascular phenotype
+2 more
GUncertain significance
ZNF469
(R1766Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ZNF469
(E1420K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
ZNF469
(S1161Y)
Single nucleotide variant
(missense variant)
Brittle cornea syndrome 1
GUncertain significance
ZNF469
(P3604L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
ZNF469
(Q1103*)
Single nucleotide variant
(nonsense)
Brittle cornea syndrome 1
GPathogenic
ZNF469
(G529fs)
Deletion
(frameshift variant)
Brittle cornea syndrome 1
GLikely pathogenic
ZNF469
(A361fs)
Deletion
(frameshift variant)
Brittle cornea syndrome 1
GLikely pathogenic
ZNF469
(A3293fs)
Duplication
(frameshift variant)
Brittle cornea syndrome 1
GLikely pathogenic
ZNF469
(L482fs)
Deletion
(frameshift variant)
Brittle cornea syndrome 1
GPathogenic
ZNF469
(R3773Q)
Single nucleotide variant
(missense variant)
Brittle cornea syndrome 1
+2 more
GConflicting classifications of pathogenicity
ZNF469
(R3442fs)
Deletion
(frameshift variant)
Brittle cornea syndrome 1
+3 more
GConflicting classifications of pathogenicity
ZNF469
(R3849W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
ZNF469
(P1927S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
ZNF469
(P423L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GLikely benign
ZNF469
(T1705I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ZNF469
(T3941P)
Single nucleotide variant
(missense variant)
Brittle cornea syndrome 1
GUncertain significance
ZNF469
(G3178S)
Single nucleotide variant
(missense variant)
Brittle cornea syndrome 1
+8 more
GUncertain significance
ZNF469
(N857D)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+9 more
GUncertain significance
ZNF469
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome
+3 more
GBenign/Likely benign
ZNF469
(R2267Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
ZNF469
Single nucleotide variant
(synonymous variant)
Brittle cornea syndrome 1
+1 more
GBenign/Likely benign
ZNF469
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GConflicting classifications of pathogenicity
ZNF469
Single nucleotide variant
(synonymous variant)
ZNF469-related condition
+3 more
GBenign/Likely benign
ZNF469
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GBenign/Likely benign
ZNF469
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
ZNF469
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
ZNF469
(G1942R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GBenign/Likely benign
ZNF469
(R1114L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GBenign/Likely benign
ZNF469
(S619I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
ZNF469
(A1591S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
ZNF469
(R3106W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
ZNF469
(G2867S)
Single nucleotide variant
(missense variant)
Brittle cornea syndrome 1
+2 more
GUncertain significance
ZNF469
(N195K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
ZNF469
(G3588R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
ZNF469
(T2794M)
Single nucleotide variant
(missense variant)
Brittle cornea syndrome 1
+3 more
GBenign/Likely benign
ZNF469
(E2537D)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GBenign/Likely benign
ZNF469
(T2902M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ZNF469
(P495S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
ZNF469
(P3905R)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ZNF469
(P1805H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
ZNF469
(A1151V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
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