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Items: 1 to 100 of 616

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126860768, LOC126860769
+3785 more
Copy number gain
See cases
GPathogenic
LOC130001533, LOC130001534
+1213 more
Copy number gain
See cases
GPathogenic
LOC124310660, LOC124310661
+3784 more
Copy number gain
See cases
GPathogenic
LOC111413024, LOC111413033
+3785 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3785 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3785 more
Copy number gain
See cases
GPathogenic
LOC116216098, LOC116216099
+3785 more
Copy number gain
See cases
GPathogenic
DAPK1-IT1, DCAF10
+1366 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3785 more
Copy number gain
See cases
GPathogenic
LCN15, LCN2
+3785 more
Copy number gain
See cases
GPathogenic
LOC126860765, LOC126860766
+3785 more
Copy number gain
See cases
GPathogenic
LOC130002043, LOC130002044
+1072 more
Copy number gain
See cases
GPathogenic
ABHD17B, ALDH1A1
+148 more
Copy number loss
See cases
GPathogenic
LOC126860657, LOC128854705
+263 more
Copy number loss
See cases
GPathogenic
LOC126860637, LOC126860638
+1188 more
Copy number gain
See cases
GPathogenic
ALDH1A1, ANXA1
+90 more
Copy number loss
See cases
GPathogenic
C9orf40, CARNMT1
+102 more
Copy number loss
See cases
GPathogenic
C9orf40, CARNMT1
+24 more
Copy number gain
See cases
GUncertain significance
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GLikely benign
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GLikely benign
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GLikely benign
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GBenign
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GLikely benign
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GBenign
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Microsatellite
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GBenign
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Microsatellite
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Microsatellite
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GLikely benign
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GLikely benign
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
+1 more
GBenign
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GLikely benign
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GLikely benign
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Single nucleotide variant
(3 prime UTR variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
(L2022V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TRPM6
(Q2016* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
TRPM6
(D2014N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TRPM6
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
TRPM6
(T2006M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TRPM6
(I2000R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TRPM6
(E1992A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TRPM6
(F1994V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TRPM6
(N1986D +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TRPM6
(N1986H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TRPM6
(I1985K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TRPM6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TRPM6
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
TRPM6
Single nucleotide variant
(intron variant)
Intestinal hypomagnesemia 1
GUncertain significance
TRPM6
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TRPM6
Single nucleotide variant
(intron variant)
not provided
GBenign
TRPM6
Single nucleotide variant
(intron variant)
not provided
GBenign
TRPM6
Single nucleotide variant
(intron variant)
not provided
GBenign
TRPM6
Single nucleotide variant
(intron variant)
not provided
GBenign
TRPM6
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
TRPM6
(P1973L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TRPM6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TRPM6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TRPM6
(L1949M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TRPM6
(A1947G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TRPM6
(P1951L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TRPM6
(P1946Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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