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Items: 1 to 100 of 4296

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130059149, LOC130059150
+1738 more
Copy number gain
See cases
GPathogenic
LOC130059618, LOC130059619
+1429 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+1426 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+1424 more
Copy number gain
See cases
GPathogenic
HSBP1, HSD17B2
+1041 more
Copy number gain
See cases
GPathogenic
LOC126862439, LOC126862440
+1031 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+832 more
Copy number gain
See cases
GPathogenic
LOC130059708, LOC130059709
+788 more
Copy number gain
See cases
GPathogenic
LINC01081, LINC01082
+781 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+719 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+691 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+677 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+670 more
Copy number gain
See cases
GPathogenic
LOC130059691, LOC130059692
+566 more
Copy number gain
See cases
GPathogenic
ACSF3, ADAD2
+531 more
Copy number gain
See cases
GLikely pathogenic
ACSF3, ADAD2
+534 more
Copy number gain
See cases
GLikely pathogenic
ACSF3, ANKRD11
+420 more
Copy number gain
See cases
GPathogenic
ACSF3, ANKRD11
+210 more
Copy number loss
See cases
GPathogenic
LOC121587566, LOC121587567
+218 more
Deletion
KBG syndrome
GPathogenic
ACSF3, ANKRD11
+196 more
Copy number loss
See cases
GPathogenic
BANP, CA5A
+35 more
Copy number gain
See cases
GUncertain significance
ACSF3, ANKRD11
+268 more
Copy number gain
See cases
GLikely pathogenic
ACSF3, ANKRD11
+267 more
Copy number gain
See cases
GPathogenic
ACSF3, ANKRD11
+160 more
Copy number loss
See cases
GPathogenic
LOC130059772, LOC130059773
+138 more
Deletion
KBG syndrome
GPathogenic
ZNF469
Deletion
Fanconi anemia complementation group A
GPathogenic
LOC112486220, ZNF469
Deletion
Fanconi anemia complementation group A
GPathogenic
ZNF469
Deletion
Fanconi anemia complementation group A
GPathogenic
ZNF469
Deletion
Fanconi anemia complementation group A
GPathogenic
ZNF469
Deletion
Fanconi anemia complementation group A
GPathogenic
ZNF469
Deletion
Fanconi anemia complementation group A
GPathogenic
ZNF469
Deletion
Fanconi anemia complementation group A
GPathogenic
ZNF469
Deletion
Fanconi anemia complementation group A
GPathogenic
ZNF469
Deletion
Fanconi anemia complementation group A
GPathogenic
ZNF469
Deletion
Fanconi anemia complementation group A
GPathogenic
ZNF469
Single nucleotide variant
(genic upstream transcript variant)
not specified
GLikely benign
ZNF469
Single nucleotide variant
(5 prime UTR variant)
Cardiovascular phenotype
GUncertain significance
ZNF469
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GUncertain significance
ZNF469
(M1V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ZNF469
(P2fs)
Deletion
(frameshift variant)
not provided
GPathogenic
ZNF469
(P2T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZNF469
(P2L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
ZNF469
(P6fs)
Deletion
(frameshift variant)
not provided
GPathogenic
ZNF469
(R5C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ZNF469
(R5H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
ZNF469
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZNF469
(R7fs)
Deletion
(frameshift variant)
not provided
GPathogenic
ZNF469
(P6L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZNF469
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZNF469
(R7*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
ZNF469
(R7Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZNF469
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
ZNF469
(A9V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
ZNF469
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
ZNF469
(T13fs)
Duplication
(frameshift variant)
not provided
GPathogenic
ZNF469
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
ZNF469
(P11L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZNF469
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
ZNF469
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
ZNF469
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
ZNF469
(T13I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
ZNF469
(D17N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
ZNF469
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
ZNF469
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZNF469
(R21fs)
Deletion
(frameshift variant)
not provided
GPathogenic
ZNF469
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
ZNF469
(R21C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
ZNF469
(R21H)
Single nucleotide variant
(missense variant)
Brittle cornea syndrome 1
+4 more
GBenign/Likely benign
ZNF469
(V23A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GLikely benign
ZNF469
(A24T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZNF469
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZNF469
(H29fs)
Duplication
(frameshift variant)
not provided
GPathogenic
ZNF469
(S26T)
Single nucleotide variant
(missense variant)
Keratoconus 1
GPathogenic
ZNF469
(P27T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZNF469
(P27L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
ZNF469
Single nucleotide variant
(synonymous variant)
ZNF469-related disorder
+3 more
GConflicting classifications of pathogenicity
ZNF469
(H29P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZNF469
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZNF469
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZNF469
(Q32*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
ZNF469
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
ZNF469
(P33L)
Single nucleotide variant
(missense variant)
Brittle cornea syndrome 1
+2 more
GConflicting classifications of pathogenicity
ZNF469
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GLikely benign
ZNF469
(L35V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
ZNF469
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZNF469
(N38T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZNF469
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZNF469
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
ZNF469
(K46Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
ZNF469
(G47S)
Single nucleotide variant
(missense variant)
Brittle cornea syndrome 1
+4 more
GConflicting classifications of pathogenicity
ZNF469
(G47D)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GLikely benign
ZNF469
(A48T)
Single nucleotide variant
(missense variant)
Brittle cornea syndrome 1
GUncertain significance
ZNF469
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZNF469
(G52D)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
ZNF469
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ZNF469
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
ZNF469
(G53S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
ZNF469
(Q54L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZNF469
(M58T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZNF469
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
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