U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
VPS45
(K13R)
Single nucleotide variant
(5 prime UTR variant +3 more)
Inborn genetic diseases
+1 more
GUncertain significance
VPS45
(V49A +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
VPS45
(K31R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
VPS45
(E41K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
VPS45
(D80G +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
VPS45
(Y45C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
VPS45
(R51Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
+1 more
GUncertain significance
VPS45
(V107E +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
+1 more
GUncertain significance
VPS45
(V82A +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
VPS45
(L106F +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
VPS45
(C144S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
VPS45
(C172R +1 more)
Single nucleotide variant
(missense variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
+2 more
GUncertain significance
VPS45
(A184P +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
VPS45
(R251K +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
VPS45
(G254A +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
VPS45
(R224G +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
VPS45
(P194A +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
VPS45
(R240W +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
VPS45
(L357V +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
VPS45
(R361Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
VPS45
(R306G +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
+1 more
GUncertain significance
VPS45
(R328Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
VPS45
(L403F +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
VPS45
(S336I +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
VPS45
(A340G +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
VPS45
(E545G +1 more)
Single nucleotide variant
(synonymous variant +2 more)
Inborn genetic diseases
GUncertain significance
VPS45
(R529G +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
Format
Items per page
Sort by
Choose Destination