U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from Gene

Items: 1 to 100 of 119

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
POPDC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BVES
(A197T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BVES
(L75V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BVES
(S299T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BVES
(V47I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BVES
(K178Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BVES
(L64F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BVES
(E39A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BVES
(P26L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POPDC1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BVES
(Y87C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
POPDC1
Single nucleotide variant
(intron variant)
BVES-related disorder
GLikely benign
POPDC1
Single nucleotide variant
(synonymous variant)
BVES-related disorder
GLikely benign
BVES
(T313A)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2X
GUncertain significance
BVES
(S184F)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2X
+1 more
GUncertain significance
BVES, POPDC3
Copy number loss
not provided
GUncertain significance
AFG1L, ARMC2
+43 more
Copy number loss
not provided
GPathogenic
BVES
(S282N)
Single nucleotide variant
(missense variant)
BVES-related disorder
GUncertain significance
BVES
(P334Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BVES
(S174T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BVES
(K156R)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2X
GUncertain significance
BVES
(R311W)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2X
GUncertain significance
BVES
(I67V)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2X
GUncertain significance
BVES
(K157N)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2X
+1 more
GUncertain significance
BVES
(R311Q)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2X
GUncertain significance
BVES
(L281V)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2X
GUncertain significance
BVES
(M292I)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2X
GUncertain significance
BVES
(E22Q)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2X
GUncertain significance
BVES
(L62V)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2X
+1 more
GUncertain significance
BVES
(L190P)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2X
GUncertain significance
BVES
(V345I)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2X
GUncertain significance
BVES
(I257M)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2X
GUncertain significance
BVES
(T313I)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2X
GUncertain significance
BVES
(Q358R)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2X
GUncertain significance
BVES
(I253T)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2X
GUncertain significance
BVES
(V82I)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2X
GUncertain significance
BVES
(R88Q)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2X
+1 more
GUncertain significance
BVES
(S314fs)
Insertion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2X
GUncertain significance
BVES
(I25T)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2X
GUncertain significance
BVES
(L269F)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2X
GUncertain significance
BVES
(R172H)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2X
+1 more
GUncertain significance
BVES
(H191R)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2X
GUncertain significance
BVES
(R129Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
BVES
(E35G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BVES
(D140H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BVES
(P8S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BVES
(R143I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
BVES
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
BVES, POPDC3
+1 more
Copy number gain
not provided
GUncertain significance
ASCC3, BVES
+21 more
Copy number loss
not provided
GPathogenic
ASCC3, BVES
+22 more
Copy number loss
not provided
GPathogenic
BVES
(S174fs)
Duplication
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2X
GLikely pathogenic
BVES
(I193S)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2X
GPathogenic
BVES
(S201C)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
ATG5, BVES
+7 more
Copy number loss
not specified
GUncertain significance
BVES, LIN28B
Copy number loss
not specified
GUncertain significance
AFG1L, AK9
+98 more
Copy number loss
not specified
GPathogenic
AFG1L, AK9
+138 more
Copy number loss
not specified
GPathogenic
BVES
(H279R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
BVES
(Y251C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BVES
Single nucleotide variant
(intron variant)
not provided
GBenign
BVES
Single nucleotide variant
(intron variant)
not provided
GBenign
BVES
Deletion
(intron variant)
not provided
GBenign
BVES
Single nucleotide variant
(intron variant)
not provided
GBenign
BVES
Single nucleotide variant
(intron variant)
not provided
GBenign
BVES
Single nucleotide variant
(intron variant)
not provided
GBenign
BVES
Single nucleotide variant
(intron variant)
not provided
GBenign
BVES
Single nucleotide variant
(intron variant)
not provided
GBenign
BVES
Single nucleotide variant
(intron variant)
not provided
GBenign
BVES
Deletion
(intron variant)
not provided
GBenign
BVES
Single nucleotide variant
(intron variant)
not provided
GBenign
BVES
Single nucleotide variant
(intron variant)
not provided
GBenign
BVES
Single nucleotide variant
(intron variant)
not provided
GBenign
BVES
Deletion
(intron variant)
not provided
GBenign
BVES
Deletion
(intron variant)
not provided
GBenign
POPDC1
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
BVES
Duplication
(intron variant)
not provided
GLikely benign
BVES
Deletion
(intron variant)
not provided
GLikely benign
BVES
Single nucleotide variant
(intron variant)
not provided
GLikely benign
BVES
(D304N)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2X
+2 more
GUncertain significance
BVES
Single nucleotide variant
(intron variant)
not provided
GLikely benign
BVES
Indel
(intron variant)
not provided
GLikely benign
POPDC1
(L281P)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
BVES
Microsatellite
(intron variant)
not provided
GLikely benign
BVES
Single nucleotide variant
(intron variant)
not provided
GLikely benign
POPDC1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
BVES
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2X
+1 more
GBenign
BVES
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2X
+1 more
GBenign
BVES
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive limb-girdle muscular dystrophy type 2X
+1 more
GBenign
BVES
Single nucleotide variant
(intron variant)
not provided
GLikely benign
BVES
Single nucleotide variant
(intron variant)
not provided
GLikely benign
BVES
(R143*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
PREP, QRSL1
+66 more
Copy number loss
Deletion 6q16 q21
GPathogenic
DSE, FAM229B
+69 more
Copy number gain
Microcephaly
+1 more
GPathogenic
POPDC1
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
POPDC1
(R136H)
Single nucleotide variant
(missense variant)
not provided
GBenign
POPDC1
(M127I)
Single nucleotide variant
(missense variant)
not provided
GBenign
POPDC1
(R129W)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
POPDC1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2X
+1 more
GBenign/Likely benign
POPDC1
(N192D)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2X
+1 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination