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Items: 59

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130057143, LOC130057144
+287 more
Copy number loss
See cases
GPathogenic
ADAM10, ALDH1A2
+140 more
Copy number loss
See cases
GPathogenic
ADAM10, ALDH1A2
+163 more
Copy number loss
See cases
GPathogenic
SLTM
(R965Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLTM
(S977T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLTM
(E937Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLTM
(A906T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLTM
(P899A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLTM
(A916V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLTM
(R876W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLTM
(M871T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLTM
(P862T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLTM
(N858S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLTM
(P867H +1 more)
Single nucleotide variant
(missense variant +1 more)
Jeune thoracic dystrophy
GLikely pathogenic
SLTM
(T847P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLTM
(D842H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLTM
(R835K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLTM
(R829Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLTM
(D795G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLTM
(N751S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLTM
(H757R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLTM
(L729S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLTM
(E708A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLTM
(R648L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLTM
(E665A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLTM
(R659C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLTM
(E635K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLTM
(S525I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLTM
(A497V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLTM
(N469K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLTM
(A329D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLTM
(L338S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLTM
(E318K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLTM
(G296V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLTM
(I268T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLTM
(V217L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLTM
(E209K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLTM
(P211L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLTM
(T182A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLTM
(H152Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLTM
(E141V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLTM
(G130D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLTM
(E122K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLTM
(H87N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLTM
(I56T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130057162, SLTM
(A10P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
WDR72, ZNF280D
+35 more
Copy number loss
not provided
GPathogenic
ADAM10, ALDH1A2
+82 more
Copy number gain
not provided
GPathogenic
ARPIN-AP3S2, COMMD4
+472 more
Duplication
Familial colorectal cancer
+1 more
GUncertain significance
SLTM, ADAM10
+1 more
Copy number gain
not provided
GUncertain significance
ADAM10, ALDH1A2
+76 more
Copy number gain
not provided
GPathogenic
ADAM10, AQP9
+11 more
Copy number gain
not provided
GUncertain significance
AAGAB, ABHD17C
+523 more
Duplication
not provided
GPathogenic
AAGAB, ABHD17C
+559 more
Copy number gain
See cases
GPathogenic
AAGAB, ABHD17C
+559 more
Copy number gain
See cases
GPathogenic
ADAM10, ALDH1A2
+17 more
Copy number loss
See cases
GPathogenic
ADAM10, ALDH1A2
+37 more
Copy number loss
See cases
GPathogenic
CSK, CSNK1G1
+566 more
Copy number gain
See cases
GPathogenic
TRPM7, TSPAN3
+444 more
Copy number gain
See cases
GPathogenic
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