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Items: 1 to 100 of 292

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MIR138-2, MIR140
+1738 more
Copy number gain
See cases
GPathogenic
LOC130059197, LOC130059198
+575 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+939 more
Copy number gain
See cases
GPathogenic
LOC130059829, LOC130059830
+1429 more
Copy number gain
See cases
GPathogenic
LOC108281164, LOC109029536
+1426 more
Copy number gain
See cases
GPathogenic
LOC130059834, LOC130059835
+1424 more
Copy number gain
See cases
GPathogenic
LOC130059420, LOC130059421
+869 more
Copy number gain
See cases
GPathogenic
AARS1, AP1G1
+263 more
Copy number loss
See cases
GPathogenic
LOC132090408, LOC132090409
+572 more
Copy number gain
See cases
GPathogenic
AARS1, ADAT1
+295 more
Copy number loss
See cases
GPathogenic
ADAD2, ADAMTS18
+591 more
Copy number loss
See cases
GPathogenic
LOC130059850, LOC130059851
+1041 more
Copy number gain
See cases
GPathogenic
PKD1L2, PKD1L3
+1031 more
Copy number gain
See cases
GPathogenic
AP1G1, ATXN1L
+99 more
Copy number gain
See cases
GUncertain significance
LINC01572, LOC110120572
+17 more
Copy number loss
See cases
GUncertain significance
LINC01572, LOC110120572
+8 more
Copy number loss
See cases
GUncertain significance
LOC110120572, ZFHX3-AS1
Deletion
Gestational diabetes mellitus uncontrolled
Gnot provided
ZFHX3, ZFHX3-AS1
(T2780fs +1 more)
Duplication
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ZFHX3, ZFHX3-AS1
(S3686G +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
(D3684E +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
(K2769R +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
(K2769T +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
(K2769Q +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
(V2765A +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
(D2745N +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ZFHX3, ZFHX3-AS1
(S2730R +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
(V3641I +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
(P2715S +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
(A2713G +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
(A3626P +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
(S3625P +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
ZFHX3, ZFHX3-AS1
(S3622P +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
(P2704L +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
(R3614T +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
(H3611L +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
(H2697Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
ZFHX3, ZFHX3-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
ZFHX3-related disorder
GBenign
ZFHX3, ZFHX3-AS1
(P3600L +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
ZFHX3-related disorder
GLikely benign
ZFHX3, ZFHX3-AS1
(N3594K +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
(S2679fs +1 more)
Deletion
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ZFHX3, ZFHX3-AS1
(A2648G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
(S2636L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
(A2629G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
(S2614W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
Microsatellite
(inframe_insertion)
ZFHX3-related disorder
GBenign
ZFHX3, ZFHX3-AS1
Microsatellite
(inframe_insertion)
ZFHX3-related disorder
GBenign
ZFHX3, ZFHX3-AS1
Microsatellite
ZFHX3-related disorder
GBenign
ZFHX3, ZFHX3-AS1
(G2613del +1 more)
Microsatellite
(inframe_deletion)
ZFHX3-related disorder
GBenign
ZFHX3, ZFHX3-AS1
Microsatellite
ZFHX3-related disorder
GBenign
ZFHX3, ZFHX3-AS1
(G3527C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
Microsatellite
(inframe_deletion)
not provided
GBenign/Likely benign
ZFHX3, ZFHX3-AS1
Deletion
ZFHX3-related disorder
GLikely benign
ZFHX3, ZFHX3-AS1
Deletion
(inframe_deletion)
not provided
GBenign
ZFHX3, ZFHX3-AS1
Deletion
(inframe_deletion)
not provided
GBenign
ZFHX3, ZFHX3-AS1
Microsatellite
ZFHX3-related disorder
GLikely benign
ZFHX3, ZFHX3-AS1
Microsatellite
ZFHX3-related disorder
GLikely benign
ZFHX3, ZFHX3-AS1
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
ZFHX3, ZFHX3-AS1
(G2613del +1 more)
Microsatellite
(inframe_deletion)
ZFHX3-related disorder
GBenign
ZFHX3, ZFHX3-AS1
Insertion
ZFHX3-related disorder
GLikely benign
ZFHX3, ZFHX3-AS1
(G2603S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
Duplication
ZFHX3-related disorder
GBenign
ZFHX3, ZFHX3-AS1
Single nucleotide variant
(synonymous variant)
ZFHX3-related disorder
GLikely benign
ZFHX3, ZFHX3-AS1
(S2599T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
(S2599G +1 more)
Single nucleotide variant
(missense variant)
ZFHX3-related disorder
GBenign
ZFHX3, ZFHX3-AS1
(G2598del +1 more)
Deletion
(inframe_deletion)
not provided
GBenign
ZFHX3, ZFHX3-AS1
Single nucleotide variant
(synonymous variant)
ZFHX3-related disorder
GLikely benign
ZFHX3, ZFHX3-AS1
Microsatellite
(inframe_deletion)
not provided
GBenign
ZFHX3, ZFHX3-AS1
(G3507R +1 more)
Single nucleotide variant
(missense variant)
ZFHX3-related disorder
GBenign
ZFHX3, ZFHX3-AS1
(V2581E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
(F2576L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
(S3486F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
Single nucleotide variant
(synonymous variant)
ZFHX3-related disorder
GLikely benign
ZFHX3, ZFHX3-AS1
(A2565E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZFHX3, ZFHX3-AS1
(A2558V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
(R2554C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
(D3450A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
(L3434P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
(L2520V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
(R2515H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
(P2514R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
(K2506R +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ZFHX3, ZFHX3-AS1
(P3414H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
(P2494A +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ZFHX3, ZFHX3-AS1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ZFHX3, ZFHX3-AS1
(P2490S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
(S3399T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
Deletion
(inframe_deletion)
not provided
GBenign
ZFHX3, ZFHX3-AS1
Deletion
(inframe_deletion)
not provided
+1 more
GConflicting classifications of pathogenicity
ZFHX3, ZFHX3-AS1
Deletion
(inframe_deletion)
not provided
GConflicting classifications of pathogenicity
ZFHX3, ZFHX3-AS1
Microsatellite
ZFHX3-related disorder
GBenign
ZFHX3, ZFHX3-AS1
(I2461M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
(G3340D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
(Y2396C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
Single nucleotide variant
(synonymous variant)
ZFHX3-related disorder
GBenign
ZFHX3, ZFHX3-AS1
(Q3289R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
(T2364S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZFHX3, ZFHX3-AS1
(P2361L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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