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Items: 1 to 100 of 119

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDC146, CCDC201
+4735 more
Copy number loss
See cases
GPathogenic
LOC126860013, LOC126860014
+1298 more
Copy number gain
See cases
GPathogenic
AMPH, ANLN
+229 more
Copy number loss
See cases
GPathogenic
LOC129389795, LOC129389796
+636 more
Copy number gain
See cases
GPathogenic
AMPH, ANLN
+197 more
Copy number loss
See cases
GPathogenic
ABCA13, ADCY1
+380 more
Copy number loss
See cases
GPathogenic
SFRP4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SFRP4
(R345fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
SFRP4
(N342Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SFRP4
(R340K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
SFRP4
(T334I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SFRP4
(P320T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
SFRP4
(P316Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SFRP4
(P313L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SFRP4
(R310H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SFRP4
(G306R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SFRP4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SFRP4
(A305V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SFRP4
(T304R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SFRP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SFRP4
Duplication
(splice donor variant)
not provided
GUncertain significance
SFRP4
(I285T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SFRP4
(D278E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SFRP4
(L267F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SFRP4
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SFRP4
Deletion
(intron variant)
not provided
GBenign
SFRP4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SFRP4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SFRP4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
SFRP4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SFRP4
(V254I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SFRP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SFRP4
(H247Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SFRP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SFRP4
(P236L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SFRP4
(P236S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SFRP4
(R232Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SFRP4
(R232*)
Single nucleotide variant
(nonsense)
Pyle metaphyseal dysplasia
GPathogenic
SFRP4
(T216A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SFRP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SFRP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SFRP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SFRP4
(V206fs)
Deletion
(frameshift variant)
not provided
GPathogenic
SFRP4
(A205P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SFRP4
(I203R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SFRP4
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SFRP4
Insertion
(intron variant)
not provided
GLikely benign
SFRP4
(S192I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SFRP4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
SFRP4
(T189M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SFRP4
(L187F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SFRP4
(R177L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SFRP4
(R177Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SFRP4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SFRP4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SFRP4
(R172H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SFRP4
(R172C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SFRP4
(D167fs)
Duplication
(frameshift variant)
Pyle metaphyseal dysplasia
GPathogenic
SFRP4
(D167H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SFRP4
(V161fs)
Deletion
(frameshift variant)
Pyle metaphyseal dysplasia
GPathogenic
SFRP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SFRP4
(I153V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SFRP4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SFRP4
(E148D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SFRP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SFRP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SFRP4
(S138L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SFRP4
(D126G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SFRP4
(C125S)
Single nucleotide variant
(missense variant)
Pyle metaphyseal dysplasia
GLikely pathogenic
SFRP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SFRP4
(A104T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SFRP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SFRP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SFRP4
(A82V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SFRP4
(M80I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SFRP4
(M80L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SFRP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SFRP4
(V72L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SFRP4
(N68Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SFRP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SFRP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SFRP4
(E62*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
SFRP4
(A54D)
Single nucleotide variant
(missense variant)
Pyle metaphyseal dysplasia
GLikely pathogenic
SFRP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SFRP4
(P36T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SFRP4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SFRP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SFRP4
(R33W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SFRP4
(R28L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SFRP4
(R28S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SFRP4
(E25*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
SFRP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SFRP4
(V19M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SFRP4
(L17P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SFRP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SFRP4
(L13M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SFRP4
(W12S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SFRP4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SFRP4
(A8P)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SFRP4
(L3F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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