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Items: 72

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BAG2, BEND6
+171 more
Copy number loss
See cases
GPathogenic
LINC01564, LINC03001
+88 more
Copy number loss
Orofacial cleft
GUncertain significance
BAG2, BEND6
+147 more
Copy number gain
See cases
GPathogenic
BMP5, COL21A1
+18 more
Copy number loss
See cases
GPathogenic
COL21A1, LOC123744829
Deletion
Normal pregnancy
Gnot provided
COL21A1
(A344S +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COL21A1
(P257A +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COL21A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
COL21A1
(P891R +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COL21A1
(G858S +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COL21A1
(L204F +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COL21A1
(P759L +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COL21A1
(S750P +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
COL21A1
(G728D +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COL21A1
(H128R +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COL21A1
(Q715K +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COL21A1
(G692E +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COL21A1
(A675T +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
COL21A1
(A666V +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COL21A1
(G23* +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
COL21A1
(G626E +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
COL21A1
(P22S +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
COL21A1
(K619T +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
COL21A1
(M616T +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
COL21A1
(P5S +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
COL21A1
(P583R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
COL21A1
(P583S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COL21A1
(L579I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COL21A1
(P571A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COL21A1
(A568S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COL21A1
(P564H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COL21A1
(G548V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COL21A1
(D516E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COL21A1
(P505S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COL21A1
(K502R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL21A1
(R496Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
COL21A1
(G491E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COL21A1
(P469A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COL21A1
(P445L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COL21A1
(F401L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COL21A1
(V399L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COL21A1
(I370T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COL21A1
(R353H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COL21A1
(K292Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COL21A1
(E267Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COL21A1
(V239A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COL21A1
(R229K)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
COL21A1
(T219K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COL21A1
(C217W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COL21A1
(E175D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COL21A1
(E173K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COL21A1
(A167P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COL21A1
(D160N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COL21A1
(T143M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COL21A1
(D125Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COL21A1
(I107L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COL21A1
(E105K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COL21A1
(N66T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COL21A1
(R32C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COL21A1
(H3Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
BAG2, BEND6
+28 more
Copy number loss
See cases
GUncertain significance
PAQR8, PGK2
+92 more
Copy number gain
not provided
GLikely pathogenic
COL21A1
Copy number loss
not specified
GUncertain significance
BMP5, COL21A1
Copy number gain
not specified
GUncertain significance
BMP5, COL21A1
Copy number gain
not specified
GUncertain significance
COL21A1
Copy number loss
not provided
GUncertain significance
COL21A1
Copy number gain
not provided
GUncertain significance
ERVH-3, ETV7
+427 more
Copy number gain
not provided
GPathogenic
BMP5, COL21A1
Copy number gain
See cases
GUncertain significance
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
BMP5, COL21A1
+4 more
Copy number loss
See cases
GLikely benign
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