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Items: 1 to 100 of 431

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130059149, LOC130059150
+1738 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+939 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
ADAD2, ADAMTS18
+591 more
Copy number loss
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
ADAD2, ARLNC1
+447 more
Copy number loss
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
LINC02176, LOC101928392
+211 more
Copy number loss
See cases
GPathogenic
LOC130059691, LOC130059692
+566 more
Copy number gain
See cases
GPathogenic
ADAD2, ATP2C2
+106 more
Copy number loss
See cases
GPathogenic
ADAD2, ATP2C2
+93 more
Copy number loss
See cases
GPathogenic
ACSF3, ADAD2
+531 more
Copy number gain
See cases
GLikely pathogenic
ADAD2, CIBAR2
+203 more
Copy number loss
See cases
GPathogenic
ADAD2, CDH13
+36 more
Copy number gain
See cases
GUncertain significance
ADAD2, ATP2C2
+55 more
Copy number loss
See cases
GUncertain significance
CDH13, CDH13-AS2
+17 more
Copy number gain
See cases
GUncertain significance
ADAD2, KCNG4
+80 more
Copy number gain
See cases
GUncertain significance
LOC130059603, LOC130059604
+227 more
Copy number loss
See cases
GPathogenic
ACSF3, ADAD2
+534 more
Copy number gain
See cases
GLikely pathogenic
MBTPS1
Single nucleotide variant
(3 prime UTR variant)
MBTPS1-related disorder
GBenign
MBTPS1
Single nucleotide variant
(stop lost)
Spondyloepiphyseal dysplasia, kondo-fu type
GPathogenic
MBTPS1
(S1051L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MBTPS1
(P1050H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MBTPS1
(P1046L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MBTPS1
(Q1043E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MBTPS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MBTPS1
(R1034S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MBTPS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MBTPS1
(P1028L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MBTPS1
(F1017L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MBTPS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MBTPS1
(R993H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MBTPS1
(R993C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MBTPS1
Single nucleotide variant
(intron variant)
not provided
GBenign
MBTPS1
Single nucleotide variant
(intron variant)
not provided
GBenign
MBTPS1
Single nucleotide variant
(intron variant)
not provided
GBenign
MBTPS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MBTPS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MBTPS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MBTPS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MBTPS1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MBTPS1
(G987R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MBTPS1
(D984N)
Single nucleotide variant
(missense variant)
MBTPS1-related disorder
+1 more
GBenign
MBTPS1
(W983*)
Single nucleotide variant
(nonsense)
Spondyloepiphyseal dysplasia, kondo-fu type
+1 more
GPathogenic
MBTPS1
(A982T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MBTPS1
(G981S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
MBTPS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MBTPS1
(S976F)
Single nucleotide variant
(missense variant)
Spondyloepiphyseal dysplasia, kondo-fu type
+1 more
GUncertain significance
MBTPS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MBTPS1
(R966*)
Single nucleotide variant
(nonsense)
Spondyloepiphyseal dysplasia, kondo-fu type
GLikely pathogenic
MBTPS1
(D958E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MBTPS1
(S954C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MBTPS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MBTPS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MBTPS1
Single nucleotide variant
(intron variant)
not provided
GBenign
MBTPS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MBTPS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MBTPS1
Single nucleotide variant
(intron variant)
not provided
GBenign
MBTPS1
Single nucleotide variant
(intron variant)
Spondyloepiphyseal dysplasia, kondo-fu type
GUncertain significance
MBTPS1
(P943A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MBTPS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MBTPS1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MBTPS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MBTPS1
(T941M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MBTPS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MBTPS1
(P935T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MBTPS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MBTPS1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MBTPS1
(R929H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
MBTPS1
(R929C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MBTPS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MBTPS1
(V911I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MBTPS1
(K910E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MBTPS1
(N903K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MBTPS1
Single nucleotide variant
(intron variant)
MBTPS1-related disorder
+1 more
GBenign
MBTPS1
(M900V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MBTPS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MBTPS1
(S894L)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MBTPS1
(A892V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MBTPS1
Single nucleotide variant
(synonymous variant)
MBTPS1-related disorder
+1 more
GLikely benign
MBTPS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MBTPS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MBTPS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MBTPS1
(L867V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MBTPS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MBTPS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MBTPS1
(D858E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MBTPS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MBTPS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MBTPS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MBTPS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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