U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 98

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COLEC11
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
COLEC11
Single nucleotide variant
(5 prime UTR variant +1 more)
COLEC11-related disorder
GLikely benign
COLEC11
Single nucleotide variant
(5 prime UTR variant +1 more)
COLEC11-related disorder
GLikely benign
COLEC11
Single nucleotide variant
(intron variant)
COLEC11-related disorder
GLikely benign
COLEC11
Single nucleotide variant
(intron variant)
COLEC11-related disorder
GLikely benign
COLEC11
Single nucleotide variant
(intron variant)
COLEC11-related disorder
GLikely benign
COLEC11
(N4H +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
COLEC11
(N4S +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
COLEC11
(V8A +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GBenign/Likely benign
COLEC11
(G23V +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
COLEC11
(V10F +1 more)
Single nucleotide variant
(missense variant +2 more)
3MC syndrome 2
GUncertain significance
COLEC11
(F16fs +1 more)
Deletion
(frameshift variant +2 more)
3MC syndrome 2
GPathogenic
COLEC11
(A28fs +2 more)
Deletion
(frameshift variant +2 more)
3MC syndrome
GPathogenic
COLEC11
(A46T +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
COLEC11
(S8F)
Single nucleotide variant
(synonymous variant +2 more)
Inborn genetic diseases
GLikely benign
COLEC11
(S9L)
Single nucleotide variant
(synonymous variant +2 more)
COLEC11-related disorder
GUncertain significance
COLEC11
Single nucleotide variant
(intron variant)
COLEC11-related disorder
GLikely benign
COLEC11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COLEC11
Single nucleotide variant
(5 prime UTR variant +1 more)
COLEC11-related disorder
GLikely benign
COLEC11
(S7C)
Single nucleotide variant
(missense variant +1 more)
COLEC11-related disorder
GUncertain significance
COLEC11
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COLEC11
(C11S)
Single nucleotide variant
(missense variant +1 more)
COLEC11-related disorder
GLikely benign
COLEC11
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
COLEC11
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
COLEC11
(R17W +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
COLEC11
(P25L)
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
COLEC11
(P26L)
Single nucleotide variant
(synonymous variant +3 more)
not provided
+1 more
GLikely benign
COLEC11
(R57W +2 more)
Single nucleotide variant
(missense variant +3 more)
not provided
GLikely benign
COLEC11
(P58A +2 more)
Single nucleotide variant
(missense variant +3 more)
Inborn genetic diseases
GUncertain significance
COLEC11
(T38M +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
COLEC11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COLEC11
Single nucleotide variant
(intron variant)
not provided
GBenign
COLEC11
Single nucleotide variant
(synonymous variant +1 more)
COLEC11-related disorder
GLikely benign
COLEC11
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
COLEC11
(Q25R +5 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
COLEC11
(G54A +5 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
COLEC11
(R31fs +5 more)
Insertion
(frameshift variant +2 more)
not provided
+1 more
GPathogenic
COLEC11
(R31fs +5 more)
Deletion
(frameshift variant +2 more)
not provided
GLikely pathogenic
COLEC11
(R55H +5 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GLikely benign
COLEC11
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign
COLEC11
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign
COLEC11
(G21V +7 more)
Single nucleotide variant
(missense variant +1 more)
3MC syndrome 2
GUncertain significance
COLEC11
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign/Likely benign
COLEC11
(P79S +7 more)
Single nucleotide variant
(missense variant +1 more)
3MC syndrome 2
GUncertain significance
COLEC11
(G101fs +7 more)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
COLEC11
Single nucleotide variant
(synonymous variant +1 more)
COLEC11-related disorder
GLikely benign
COLEC11
(G107C +7 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COLEC11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COLEC11
Duplication
(intron variant)
not provided
GLikely benign
COLEC11
Single nucleotide variant
(intron variant)
COLEC11-related disorder
GLikely benign
COLEC11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COLEC11
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COLEC11
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COLEC11
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
COLEC11
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
COLEC11
(G75R +7 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COLEC11
(G120E +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COLEC11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COLEC11
Single nucleotide variant
(intron variant)
not provided
GBenign
COLEC11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COLEC11
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COLEC11
Single nucleotide variant
(intron variant)
not provided
GBenign
COLEC11
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COLEC11
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
COLEC11
(G145S +7 more)
Single nucleotide variant
(missense variant +1 more)
3MC syndrome 2
GUncertain significance
COLEC11
(G159V +7 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COLEC11
(R73H +7 more)
Single nucleotide variant
(missense variant +1 more)
3MC syndrome 2
GUncertain significance
COLEC11
(A114V +7 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
COLEC11
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COLEC11
(S169P +7 more)
Single nucleotide variant
(missense variant +1 more)
3MC syndrome 2
GPathogenic
COLEC11
(C184R +7 more)
Single nucleotide variant
(missense variant +1 more)
3MC syndrome 2
GUncertain significance
COLEC11
(G122S +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
COLEC11
Single nucleotide variant
(synonymous variant +1 more)
COLEC11-related disorder
GLikely benign
COLEC11
(N162S +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COLEC11
Single nucleotide variant
(synonymous variant +1 more)
COLEC11-related disorder
GLikely benign
COLEC11
(A144V +7 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
COLEC11
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COLEC11
(R152H +7 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COLEC11
(G204S +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
COLEC11
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COLEC11
(L160V +7 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COLEC11
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COLEC11
(A139T +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COLEC11
Single nucleotide variant
(synonymous variant +1 more)
COLEC11-related disorder
GLikely benign
COLEC11
(V165L +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COLEC11
(S143del +7 more)
Deletion
(inframe_deletion +1 more)
3MC syndrome 2
GPathogenic
COLEC11
(H145R +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
COLEC11
(R155H +7 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COLEC11
Single nucleotide variant
(synonymous variant +1 more)
COLEC11-related disorder
GLikely benign
COLEC11
(G157S +7 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COLEC11
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COLEC11
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COLEC11
Single nucleotide variant
(synonymous variant +1 more)
COLEC11-related disorder
GLikely benign
COLEC11
(M242T +7 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COLEC11
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COLEC11
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign/Likely benign
COLEC11
Deletion
3MC syndrome 2
GPathogenic
COLEC11
Deletion
3MC syndrome 2
GPathogenic
Format
Items per page
Sort by
Choose Destination