U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 304

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OBSCN, OBSCN-AS1
(F12Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
OBSCN, OBSCN-AS1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
OBSCN, OBSCN-AS1
(D63N)
Single nucleotide variant
(missense variant)
OBSCN-related disorder
GBenign
OBSCN, OBSCN-AS1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
OBSCN, OBSCN-AS1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GLikely benign
OBSCN, OBSCN-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
OBSCN-related disorder
+1 more
GLikely benign
OBSCN, OBSCN-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GBenign/Likely benign
OBSCN
(V442L)
Single nucleotide variant
(missense variant)
OBSCN-related disorder
+2 more
GLikely benign
OBSCN
(V505M)
Single nucleotide variant
(missense variant)
not specified
+1 more
GLikely benign
OBSCN
Single nucleotide variant
(intron variant)
OBSCN-related disorder
GLikely benign
OBSCN
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
OBSCN
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
OBSCN
Single nucleotide variant
(synonymous variant)
OBSCN-related disorder
+2 more
GLikely benign
OBSCN
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
OBSCN
Single nucleotide variant
(synonymous variant)
OBSCN-related disorder
+2 more
GBenign/Likely benign
OBSCN
(G642V)
Single nucleotide variant
(missense variant)
OBSCN-related disorder
GBenign
OBSCN
(F684L)
Single nucleotide variant
(missense variant)
OBSCN-related disorder
+1 more
GLikely benign
OBSCN
Single nucleotide variant
(synonymous variant)
OBSCN-related disorder
+1 more
GLikely benign
OBSCN
(R760Q)
Single nucleotide variant
(missense variant)
OBSCN-related disorder
+1 more
GBenign/Likely benign
OBSCN
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
OBSCN
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
OBSCN
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
OBSCN
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
OBSCN
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
OBSCN
(V828L)
Single nucleotide variant
(missense variant)
not specified
+1 more
GLikely benign
OBSCN
(R843H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
OBSCN
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
OBSCN
Single nucleotide variant
(synonymous variant +1 more)
OBSCN-related disorder
GBenign
OBSCN
Single nucleotide variant
(synonymous variant +1 more)
OBSCN-related disorder
GBenign
OBSCN
(R972C)
Single nucleotide variant
(missense variant +1 more)
OBSCN-related disorder
GBenign
OBSCN
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
OBSCN
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
OBSCN
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
OBSCN
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
OBSCN
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
OBSCN
(K1027R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
OBSCN
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
OBSCN
(A1178S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
OBSCN
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
OBSCN
(H1158L +1 more)
Single nucleotide variant
(missense variant)
OBSCN-related disorder
GBenign
OBSCN
Single nucleotide variant
(intron variant)
OBSCN-related disorder
GLikely benign
OBSCN
Single nucleotide variant
(synonymous variant)
OBSCN-related disorder
+1 more
GBenign
OBSCN
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
OBSCN
(Q1248H +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
OBSCN
Single nucleotide variant
(intron variant)
OBSCN-related disorder
GLikely benign
OBSCN
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
OBSCN
(A1348V +1 more)
Single nucleotide variant
(missense variant)
OBSCN-related disorder
GUncertain significance
OBSCN
Single nucleotide variant
(synonymous variant)
OBSCN-related disorder
GBenign
OBSCN
Single nucleotide variant
(synonymous variant)
OBSCN-related disorder
+1 more
GBenign
OBSCN
(V1540A +1 more)
Single nucleotide variant
(missense variant)
Rhabdomyolysis, susceptibility to, 1
+2 more
GBenign
OBSCN
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
OBSCN
Single nucleotide variant
(synonymous variant +1 more)
OBSCN-related disorder
GBenign
OBSCN
(G1663R)
Single nucleotide variant
(missense variant +1 more)
OBSCN-related disorder
GBenign
OBSCN
(C1698G)
Single nucleotide variant
(missense variant +1 more)
OBSCN-related disorder
GBenign
OBSCN
(R1708H)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
OBSCN
(A1532V +1 more)
Single nucleotide variant
(missense variant)
OBSCN-related disorder
GBenign
OBSCN
Single nucleotide variant
(synonymous variant)
OBSCN-related disorder
GBenign
OBSCN
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
OBSCN
(A1601T +1 more)
Single nucleotide variant
(missense variant)
OBSCN-related disorder
GBenign
OBSCN
Single nucleotide variant
(synonymous variant +1 more)
OBSCN-related disorder
GLikely benign
OBSCN
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
OBSCN
Single nucleotide variant
(synonymous variant)
OBSCN-related disorder
+1 more
GLikely benign
OBSCN
(K1671N +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GLikely benign
OBSCN
(D1912H)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
OBSCN
(P1914L)
Single nucleotide variant
(missense variant +1 more)
OBSCN-related disorder
GBenign
OBSCN
(A1976T)
Single nucleotide variant
(missense variant +1 more)
OBSCN-related disorder
GBenign
OBSCN
(A2015V)
Single nucleotide variant
(missense variant +1 more)
OBSCN-related disorder
GBenign
OBSCN
Single nucleotide variant
(synonymous variant +1 more)
OBSCN-related disorder
GLikely benign
OBSCN
Single nucleotide variant
(synonymous variant +1 more)
OBSCN-related disorder
GBenign
OBSCN
(D2037N)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
OBSCN
(D2037E)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely benign
OBSCN
Single nucleotide variant
(synonymous variant +1 more)
OBSCN-related disorder
GBenign
OBSCN
(H2085Y)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign/Likely benign
OBSCN
(R2135C +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
OBSCN
(R1761H +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
OBSCN
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
OBSCN
(E1915K +1 more)
Single nucleotide variant
(missense variant)
OBSCN-related disorder
GBenign
OBSCN
Single nucleotide variant
(synonymous variant)
OBSCN-related disorder
GBenign
OBSCN
(V1930M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
OBSCN
(G2349D +1 more)
Single nucleotide variant
(missense variant)
OBSCN-related disorder
+1 more
GConflicting classifications of pathogenicity
OBSCN
(R2081W +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GLikely benign
OBSCN
(W2484R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
OBSCN
(P2129R +1 more)
Single nucleotide variant
(missense variant)
OBSCN-related disorder
GBenign
OBSCN
(L2539V +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
OBSCN
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
OBSCN
(F2272L +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
OBSCN
Single nucleotide variant
(synonymous variant)
OBSCN-related disorder
+1 more
GLikely benign
OBSCN
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
OBSCN
(T2873S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
OBSCN
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
OBSCN
(V2449A +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
OBSCN
Single nucleotide variant
(synonymous variant)
OBSCN-related disorder
+1 more
GLikely benign
OBSCN
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
OBSCN
Single nucleotide variant
(synonymous variant)
OBSCN-related disorder
+1 more
GLikely benign
OBSCN
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
OBSCN
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
OBSCN
(D3014H +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
OBSCN
(S2618N +1 more)
Single nucleotide variant
(missense variant)
OBSCN-related disorder
GBenign
OBSCN
Single nucleotide variant
(synonymous variant)
OBSCN-related disorder
+1 more
GBenign/Likely benign
OBSCN
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
Format
Items per page
Sort by
Choose Destination