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Items: 1 to 100 of 130

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABR, ABR-AS1
+962 more
Copy number gain
See cases
GPathogenic
MIR4521, MIR497
+922 more
Copy number gain
See cases
GPathogenic
OR1D4, OR1D5
+651 more
Copy number loss
See cases
GPathogenic
LOC130060077, LOC130060078
+911 more
Copy number gain
Chromosome 17p13.3 duplication syndrome
GPathogenic
ACADVL, ACAP1
+461 more
Copy number gain
See cases
GPathogenic
SPEM3, TEKT1
+229 more
Copy number loss
See cases
GPathogenic
ACADVL, ACAP1
+182 more
Copy number gain
See cases
GLikely pathogenic
ALOX12B, ALOX15B
+191 more
Copy number loss
See cases
GPathogenic
ATP1B2, CD68
+36 more
Copy number gain
See cases
GUncertain significance
MPDU1, MPDU1-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Congenital disorder of glycosylation
GUncertain significance
MPDU1, MPDU1-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Congenital disorder of glycosylation
GUncertain significance
MPDU1, MPDU1-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
Congenital disorder of glycosylation
GUncertain significance
MPDU1-AS1, MPDU1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GBenign/Likely benign
MPDU1, MPDU1-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
MPDU1, MPDU1-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GLikely benign
MPDU1, MPDU1-AS1
(M1T)
Single nucleotide variant
(missense variant +2 more)
MPDU1-congenital disorder of glycosylation
GPathogenic
MPDU1, MPDU1-AS1
(E4K)
Single nucleotide variant
(missense variant +1 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1, MPDU1-AS1
Single nucleotide variant
(synonymous variant +1 more)
MPDU1-congenital disorder of glycosylation
+1 more
GLikely benign
MPDU1, MPDU1-AS1
(G7*)
Single nucleotide variant
(nonsense +1 more)
Inborn genetic diseases
GLikely pathogenic
MPDU1, MPDU1-AS1
(P8L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
LOC100996842, MPDU1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MPDU1-AS1, MPDU1
(P15S)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
MPDU1-AS1, MPDU1
(L18S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
MPDU1, MPDU1-AS1
(P19L)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC100996842, MPDU1
(C22W)
Single nucleotide variant
(non-coding transcript variant +1 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1, MPDU1-AS1
Deletion
(non-coding transcript variant +1 more)
MPDU1-congenital disorder of glycosylation
GLikely pathogenic
MPDU1, MPDU1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1, MPDU1-AS1
(D31H)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
MPDU1, MPDU1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
MPDU1-congenital disorder of glycosylation
GLikely benign
MPDU1, MPDU1-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
MPDU1
Deletion
(intron variant)
not provided
GBenign
MPDU1
Single nucleotide variant
(synonymous variant +1 more)
MPDU1-related disorder
+1 more
GLikely benign
MPDU1
(L41V)
Single nucleotide variant
(missense variant +1 more)
MPDU1-congenital disorder of glycosylation
GConflicting classifications of pathogenicity
MPDU1
(S43R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MPDU1
(G45V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MPDU1
(L46P)
Single nucleotide variant
(missense variant +1 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
(I50T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
MPDU1
Single nucleotide variant
(intron variant)
Inborn genetic diseases
GUncertain significance
MPDU1
Single nucleotide variant
(splice acceptor variant)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
(V62M)
Single nucleotide variant
(missense variant +1 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
(F63L)
Single nucleotide variant
(missense variant +1 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MPDU1
(G73E)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
MPDU1
(L74S)
Single nucleotide variant
(missense variant +1 more)
MPDU1-congenital disorder of glycosylation
GPathogenic
MPDU1
(Q77P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MPDU1
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
MPDU1
Deletion
(intron variant)
not provided
GBenign
MPDU1
Single nucleotide variant
(intron variant)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
Single nucleotide variant
(intron variant)
MPDU1-congenital disorder of glycosylation
GLikely benign
MPDU1
(G104S)
Single nucleotide variant
(missense variant +1 more)
MPDU1-congenital disorder of glycosylation
GLikely pathogenic
MPDU1
(T113S)
Single nucleotide variant
(missense variant +1 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
(T113M)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
MPDU1
(L119P)
Single nucleotide variant
(missense variant +1 more)
MPDU1-congenital disorder of glycosylation
GPathogenic
MPDU1
(Q126P)
Single nucleotide variant
(missense variant +1 more)
MPDU1-congenital disorder of glycosylation
GLikely pathogenic
MPDU1
(D133G)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
MPDU1
(K136fs)
Deletion
(frameshift variant +1 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
(P135R)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
MPDU1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MPDU1
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
MPDU1
(L134V)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
MPDU1
(A135T)
Single nucleotide variant
(missense variant +2 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
(A135P)
Single nucleotide variant
(missense variant +2 more)
not specified
+1 more
GBenign
MPDU1
(Y137C)
Single nucleotide variant
(missense variant +2 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
Single nucleotide variant
(synonymous variant +2 more)
MPDU1-related disorder
+2 more
GConflicting classifications of pathogenicity
MPDU1
(S146L)
Single nucleotide variant
(missense variant +2 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
MPDU1
Single nucleotide variant
(synonymous variant +2 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
Single nucleotide variant
(synonymous variant +2 more)
MPDU1-congenital disorder of glycosylation
GLikely benign
MPDU1
(S160fs)
Deletion
(frameshift variant +2 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
(N161S)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
MPDU1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
MPDU1
Single nucleotide variant
(intron variant)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
(S152fs +1 more)
Deletion
(frameshift variant +1 more)
MPDU1-congenital disorder of glycosylation
+2 more
GConflicting classifications of pathogenicity
MPDU1
(Q172*)
Single nucleotide variant
(synonymous variant +2 more)
MPDU1-congenital disorder of glycosylation
GLikely pathogenic
MPDU1
(T160M)
Single nucleotide variant
(missense variant +2 more)
MPDU1-congenital disorder of glycosylation
GLikely benign
MPDU1
(A187V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
MPDU1
(T189fs +1 more)
Microsatellite
(frameshift variant +1 more)
not provided
GLikely pathogenic
MPDU1
(S172Y +1 more)
Single nucleotide variant
(missense variant +1 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
(L175S)
Single nucleotide variant
(missense variant +2 more)
MPDU1-congenital disorder of glycosylation
GLikely benign
MPDU1
(S197P)
Single nucleotide variant
(synonymous variant +2 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
(P178R)
Single nucleotide variant
(missense variant +2 more)
MPDU1-congenital disorder of glycosylation
GLikely benign
MPDU1
(R200Q +1 more)
Single nucleotide variant
(missense variant +1 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
(I205V)
Single nucleotide variant
(synonymous variant +2 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
Single nucleotide variant
(intron variant)
MPDU1-congenital disorder of glycosylation
+1 more
GConflicting classifications of pathogenicity
MPDU1
Single nucleotide variant
(intron variant)
MPDU1-congenital disorder of glycosylation
+1 more
GLikely benign
MPDU1
Single nucleotide variant
(splice acceptor variant)
MPDU1-congenital disorder of glycosylation
+1 more
GConflicting classifications of pathogenicity
MPDU1
(I191M +1 more)
Single nucleotide variant
(missense variant +1 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
Single nucleotide variant
(stop lost +2 more)
MPDU1-congenital disorder of glycosylation
GLikely benign
MPDU1
(G215E)
Single nucleotide variant
(3 prime UTR variant +2 more)
Inborn genetic diseases
GUncertain significance
MPDU1
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
+1 more
GLikely benign
MPDU1
(V218L)
Single nucleotide variant
(missense variant +2 more)
MPDU1-congenital disorder of glycosylation
GBenign/Likely benign
MPDU1
(C223fs)
Microsatellite
(3 prime UTR variant +2 more)
not provided
GLikely pathogenic
MPDU1
(S221C)
Single nucleotide variant
(3 prime UTR variant +2 more)
MPDU1-congenital disorder of glycosylation
GLikely benign
MPDU1
Single nucleotide variant
(synonymous variant +2 more)
MPDU1-congenital disorder of glycosylation
+1 more
GLikely benign
MPDU1
(G225S)
Single nucleotide variant
(3 prime UTR variant +2 more)
MPDU1-related disorder
+2 more
GBenign
MPDU1
(A229T)
Single nucleotide variant
(3 prime UTR variant +2 more)
not specified
+1 more
GBenign
MPDU1
(W235R)
Single nucleotide variant
(3 prime UTR variant +2 more)
Inborn genetic diseases
GUncertain significance
MPDU1
(K238R)
Single nucleotide variant
(3 prime UTR variant +2 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
(K242Q)
Single nucleotide variant
(3 prime UTR variant +2 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
MPDU1
(Q243H)
Single nucleotide variant
(3 prime UTR variant +2 more)
MPDU1-congenital disorder of glycosylation
GUncertain significance
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