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Items: 1 to 100 of 761

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC112533659, LOC112533660
+2032 more
Copy number gain
See cases
GPathogenic
AARSD1, AATF
+1753 more
Copy number gain
See cases
GPathogenic
C17orf47, CCDC182
+168 more
Copy number loss
See cases
GPathogenic
LOC126862606, LOC129390904
+2 more
Copy number gain
See cases
GLikely benign
PPM1E, TRIM37
(F272S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPM1E, TRIM37
(R294H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPM1E, TRIM37
(I484V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPM1E, TRIM37
(S498G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPM1E, TRIM37
(P588S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPM1E, TRIM37
(F592V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPM1E, TRIM37
(N631S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPM1E, TRIM37
(Q656E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPM1E, TRIM37
(P660A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPM1E, TRIM37
(P660L)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
PPM1E, TRIM37
(H679Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPM1E, TRIM37
(P685S)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
PPM1E, TRIM37
(F690L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPM1E, TRIM37
(G709E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPM1E, TRIM37
(M734I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPM1E, TRIM37
(K753N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PPM1E, TRIM37
(I754T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TRIM37, PPM1E
Single nucleotide variant
(3 prime UTR variant +2 more)
Mulibrey nanism syndrome
GLikely pathogenic
PPM1E, TRIM37
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GLikely benign
LOC130061315, LOC130061316
+9 more
Deletion
Mulibrey nanism syndrome
GLikely pathogenic
TRIM37
Single nucleotide variant
(3 prime UTR variant +2 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(3 prime UTR variant +2 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(3 prime UTR variant +2 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(3 prime UTR variant +2 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(3 prime UTR variant +2 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Deletion
(3 prime UTR variant +2 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(3 prime UTR variant +2 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(3 prime UTR variant +2 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(3 prime UTR variant +2 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(3 prime UTR variant +2 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(3 prime UTR variant +2 more)
Mulibrey nanism syndrome
GLikely benign
TRIM37
Single nucleotide variant
(3 prime UTR variant +2 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(3 prime UTR variant +2 more)
Mulibrey nanism syndrome
GLikely benign
TRIM37
Single nucleotide variant
(3 prime UTR variant +2 more)
Mulibrey nanism syndrome
GBenign
TRIM37
Single nucleotide variant
(3 prime UTR variant +2 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(3 prime UTR variant +2 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(3 prime UTR variant +2 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(3 prime UTR variant +2 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(3 prime UTR variant +2 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(3 prime UTR variant +2 more)
Mulibrey nanism syndrome
GBenign
TRIM37
Single nucleotide variant
(3 prime UTR variant +2 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(3 prime UTR variant +2 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(3 prime UTR variant +2 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(3 prime UTR variant +2 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(3 prime UTR variant +2 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TRIM37
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TRIM37
(N712S +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TRIM37
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
TRIM37
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TRIM37
(G789D +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TRIM37
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TRIM37
(D906G +8 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
TRIM37
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TRIM37
(S781R +8 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TRIM37
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TRIM37
(T694I +8 more)
Single nucleotide variant
(missense variant +1 more)
Mulibrey nanism syndrome
GUncertain significance
TRIM37
Deletion
(intron variant)
not provided
GLikely benign
TRIM37
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TRIM37
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TRIM37
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TRIM37
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TRIM37
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TRIM37
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC126862606, TRIM37
Duplication
(intron variant)
not provided
GLikely benign
LOC126862606, TRIM37
Deletion
(intron variant)
not provided
GLikely benign
LOC126862606, TRIM37
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC126862606, TRIM37
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC126862606, TRIM37
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC126862606, TRIM37
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC126862606, TRIM37
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
LOC126862606, TRIM37
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
LOC126862606, TRIM37
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
LOC126862606, TRIM37
(P690fs +6 more)
Deletion
(frameshift variant +2 more)
Mulibrey nanism syndrome
GLikely pathogenic
LOC126862606, TRIM37
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
LOC126862606, TRIM37
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
LOC126862606, TRIM37
(D926Y +6 more)
Single nucleotide variant
(missense variant +2 more)
Mulibrey nanism syndrome
GUncertain significance
LOC126862606, TRIM37
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
LOC126862606, TRIM37
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
LOC126862606, TRIM37
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GLikely benign
LOC126862606, TRIM37
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC126862606, TRIM37
(E671K +6 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
TRIM37, LOC126862606
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
LOC126862606, TRIM37
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
LOC126862606, TRIM37
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
LOC126862606, TRIM37
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
LOC126862606, TRIM37
Single nucleotide variant
(intron variant +2 more)
not provided
GLikely benign
LOC126862606, TRIM37
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
LOC126862606, TRIM37
(D903N +6 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
LOC126862606, TRIM37
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
LOC126862606, TRIM37
(S877T +6 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
LOC126862606, TRIM37
(M655I +6 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
LOC126862606, TRIM37
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely pathogenic
TRIM37, LOC126862606
(P903del +1 more)
Deletion
(inframe_deletion +2 more)
not provided
GLikely benign
TRIM37
Single nucleotide variant
(intron variant)
not provided
GBenign
TRIM37
Microsatellite
(intron variant)
not provided
GLikely benign
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Items per page
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