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Items: 73

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FERRY3, FGD4
+4837 more
Copy number gain
See cases
GPathogenic
LOC130007898, LOC130007899
+206 more
Copy number loss
See cases
GPathogenic
ACVR1B, ACVRL1
+136 more
Copy number loss
See cases
GPathogenic
KRT75
(T550K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KRT75
(L529S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
(R527Q)
Single nucleotide variant
(missense variant)
KRT75-related disorder
GBenign
KRT75
(G501S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
KRT75
(G499D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
(G497S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
(G490E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
(S488T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
(G486S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
(S485N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
Single nucleotide variant
(synonymous variant)
KRT75-related disorder
GLikely benign
KRT75
(A443V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
(R429Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
(I395F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
(T393K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
Single nucleotide variant
(intron variant)
KRT75-related disorder
GLikely benign
KRT75
(R372H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
(N371K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
(I367V)
Single nucleotide variant
(missense variant)
not provided
GBenign
KRT75
(R361Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
(D359H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
(E337K)
Single nucleotide variant
(missense variant)
KRT75-related disorder
GBenign
KRT75
(R333H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
(R333C)
Single nucleotide variant
(missense variant)
KRT75-related disorder
GLikely benign
KRT75
(Y327H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
(E322K)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
KRT75
(A321T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
(I319N)
Single nucleotide variant
(missense variant)
KRT75-related disorder
GBenign
KRT75
(N313K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
(T297S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
(T297A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
(Q296L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
(L292M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
(A290V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
(A290T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
(S286L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
(E271K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
(F253S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
(E240K)
Single nucleotide variant
(missense variant)
KRT75-related disorder
GLikely benign
KRT75
(R218K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
(R209Q)
Single nucleotide variant
(missense variant)
KRT75-related disorder
GBenign
KRT75
(R168S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
(K166R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
Single nucleotide variant
(synonymous variant)
KRT75-related disorder
GLikely benign
KRT75
(A161T)
Single nucleotide variant
(missense variant)
KRT75-related disorder
+1 more
GBenign; risk factor
KRT75
(R146W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
(T141N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
(Q137L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
Single nucleotide variant
(synonymous variant)
KRT75-related disorder
GLikely benign
KRT75
(P117A)
Single nucleotide variant
(missense variant)
KRT75-related disorder
GBenign
KRT75
Single nucleotide variant
(synonymous variant)
KRT75-related disorder
GBenign
KRT75
(V94F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
(R81Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
(S79N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
(I73S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
(R70W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
(G67D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
(G66A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
(R60C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
(A53S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
(G45R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
(R39C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
(I23N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT75
(S21L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRT6B, KRT75
+6 more
Copy number loss
not specified
GUncertain significance
KRT6B, KRT75
+6 more
Copy number loss
not specified
GUncertain significance
BICD1, HDAC7
+212 more
Inversion
not specified
GUncertain significance
SLC15A5, SLC16A7
+1006 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+1006 more
Copy number gain
See cases
GPathogenic
GALNT8, H2AJ
+1007 more
Copy number gain
See cases
GPathogenic
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