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 259

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126860438, LOC126860439
+3663 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3663 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC105379224, LOC105379230
+3657 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC129999966, LOC129999967
+3111 more
Copy number gain
See cases
GPathogenic
LOC126860489, LOC126860490
+1963 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+1691 more
Copy number gain
See cases
GPathogenic
LOC126860535, LOC126860536
+1687 more
Copy number gain
See cases
GPathogenic
LOC105375713, LOC105375742
+1553 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+1153 more
Copy number gain
See cases
GPathogenic
LOC130001109, LOC130001110
+1532 more
Copy number gain
See cases
GPathogenic
LOC130001226, LOC130001227
+1407 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+1330 more
Copy number gain
See cases
GPathogenic
ANKRD46, ATP6V1C1
+234 more
Copy number loss
See cases
GPathogenic
LOC130000987, LOC130000988
+1205 more
Copy number gain
See cases
GPathogenic
RRM2B, RSPO2
+188 more
Copy number loss
See cases
GPathogenic
ATP6V1C1, AZIN1
+154 more
Copy number loss
See cases
GPathogenic
ABRA, ANGPT1
+154 more
Copy number loss
See cases
GPathogenic
ATP6V1C1, AZIN1
+92 more
Copy number gain
See cases
GPathogenic
UBR5, AZIN1
+17 more
Deletion
Thick eyebrow
+6 more
GUncertain significance
KLF10
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
KLF10
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
KLF10
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
KLF10
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
KLF10
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KLF10
(T464A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KLF10
(P474L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KLF10
(A460V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KLF10
(I459M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KLF10
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KLF10
(K445N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KLF10
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KLF10
(R439H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KLF10
(A437G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KLF10
(R426Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KLF10
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KLF10
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KLF10
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KLF10
(A419T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KLF10
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KLF10
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KLF10
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KLF10
(E396G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KLF10
(S389N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KLF10
Deletion
(intron variant)
not provided
GLikely benign
KLF10
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KLF10
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KLF10
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KLF10
Single nucleotide variant
(intron variant)
not provided
GBenign
AZIN1, GASAL1
+16 more
Deletion
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
KLF10
Single nucleotide variant
(intron variant)
not provided
GBenign
KLF10
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KLF10
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KLF10
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KLF10
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
KLF10
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KLF10
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
KLF10
(T381M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KLF10
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
KLF10
(T390M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KLF10
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KLF10
(G366S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KLF10
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KLF10
(S353T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KLF10
(S352A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
KLF10
(Q360R +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
KLF10
(P359H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KLF10
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
KLF10
(A344S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
KLF10
(A343V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
KLF10
(A343T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KLF10
(P337L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KLF10
(P337A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KLF10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KLF10
(P332T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KLF10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KLF10
(L330V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KLF10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KLF10
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
KLF10
(P325L +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
KLF10
(V323A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KLF10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KLF10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KLF10
(A316T +1 more)
Single nucleotide variant
(missense variant)
KLF10-related disorder
+1 more
GConflicting classifications of pathogenicity
KLF10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KLF10
(K303R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KLF10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KLF10
(P293R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KLF10
(P304H +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
KLF10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KLF10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KLF10
(V301I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KLF10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KLF10
(S296I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KLF10
(P295H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KLF10
(P294S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KLF10
(S281N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KLF10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KLF10
(V290I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
Format
Items per page
Sort by
Choose Destination