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Items: 1 to 100 of 891

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A4GALT, ACO2
+2088 more
Copy number gain
See cases
GPathogenic
LOC126863153, LOC126863154
+2088 more
Copy number gain
See cases
GPathogenic
ANKRD54, APOL1
+293 more
Copy number loss
See cases
GPathogenic
LOC112695092, LOC112695093
+1004 more
Copy number gain
See cases
GPathogenic
ANKRD54, APOBEC3A
+177 more
Copy number loss
See cases
GPathogenic
CDC42EP1, GGA1
+34 more
Copy number gain
See cases
GUncertain significance
TRIOBP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TRIOBP
Duplication
(intron variant)
not provided
GBenign
TRIOBP
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GBenign
TRIOBP
Single nucleotide variant
(5 prime UTR variant)
TRIOBP-related condition
+1 more
GConflicting classifications of pathogenicity
TRIOBP
(E14G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TRIOBP
(R22C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIOBP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TRIOBP
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
TRIOBP
(Y37*)
Single nucleotide variant
(nonsense)
not specified
GUncertain significance
TRIOBP
Single nucleotide variant
(intron variant)
not provided
GBenign/Likely benign
TRIOBP
Single nucleotide variant
(intron variant)
not provided
GBenign
TRIOBP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TRIOBP
Single nucleotide variant
(intron variant)
not provided
GBenign
TRIOBP
Single nucleotide variant
(intron variant)
not provided
GBenign
TRIOBP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TRIOBP
Single nucleotide variant
(intron variant)
not provided
GBenign
TRIOBP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TRIOBP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TRIOBP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TRIOBP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TRIOBP
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
TRIOBP
(L40F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TRIOBP
(S44*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 28
GLikely pathogenic
TRIOBP
(D52N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TRIOBP
(L53V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TRIOBP
(R55*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
TRIOBP
(T68S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TRIOBP
(T68A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TRIOBP
(T68I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TRIOBP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TRIOBP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TRIOBP
Deletion
(splice donor variant)
not provided
GPathogenic
TRIOBP
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
TRIOBP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TRIOBP
Duplication
(intron variant)
not provided
GBenign
TRIOBP
Microsatellite
(intron variant)
not provided
GBenign
TRIOBP
Microsatellite
(intron variant)
not provided
GLikely benign
TRIOBP
Microsatellite
(intron variant)
not provided
GBenign
TRIOBP
Microsatellite
(intron variant)
not provided
GBenign
TRIOBP
Deletion
(intron variant)
not provided
GLikely benign
TRIOBP
Deletion
(intron variant)
not provided
GLikely benign
TRIOBP
Single nucleotide variant
(intron variant)
not provided
GBenign
TRIOBP
Single nucleotide variant
(intron variant)
not provided
GBenign
TRIOBP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TRIOBP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TRIOBP
(P89A)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
TRIOBP
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
TRIOBP
(A101T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TRIOBP
(E110K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TRIOBP
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
TRIOBP
(L122S)
Single nucleotide variant
(missense variant)
TRIOBP-related condition
+1 more
GLikely benign
TRIOBP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TRIOBP
(E128K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TRIOBP
(G131S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
TRIOBP
(S132C)
Single nucleotide variant
(missense variant)
TRIOBP-related condition
GUncertain significance
TRIOBP
(S137G)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
TRIOBP
(D145N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TRIOBP
(S149L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TRIOBP
(V152A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TRIOBP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TRIOBP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TRIOBP
(R159S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GLikely benign
TRIOBP
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
TRIOBP
(S166T)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
TRIOBP
(D168E)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
TRIOBP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TRIOBP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TRIOBP
(R179L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TRIOBP
(R179P)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 28
GUncertain significance
TRIOBP
(R189S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TRIOBP
(P191L)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TRIOBP
(T195I)
Single nucleotide variant
(missense variant)
TRIOBP-related condition
+3 more
GBenign/Likely benign
TRIOBP
(R196T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TRIOBP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TRIOBP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TRIOBP
Duplication
(intron variant)
not provided
GLikely benign
TRIOBP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TRIOBP
Single nucleotide variant
(intron variant)
not provided
GBenign
ANKRD54, BAIAP2L2
+122 more
Copy number loss
See cases
GPathogenic
LOC130067459, LOC130067460
+273 more
Copy number gain
See cases
GPathogenic
TRIOBP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TRIOBP
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TRIOBP
Microsatellite
(intron variant)
not provided
GUncertain significance
TRIOBP
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
TRIOBP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TRIOBP
(G212S)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 28
+1 more
GConflicting classifications of pathogenicity
TRIOBP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TRIOBP
(G213S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TRIOBP
(G213D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TRIOBP
(R216W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TRIOBP
(R216Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TRIOBP
(S217N)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
TRIOBP
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TRIOBP
(A218V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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