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Items: 1 to 100 of 141

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129998085, LOC129998086
+904 more
Copy number gain
See cases
GPathogenic
RAC1, RADIL
+823 more
Copy number gain
See cases
GPathogenic
ACTB, ADAP1
+439 more
Copy number gain
See cases
GPathogenic
BRAT1, ACTB
+381 more
Copy number gain
See cases
GPathogenic
ACTB, ADAP1
+357 more
Copy number loss
See cases
GPathogenic
ACTB, ADAP1
+418 more
Copy number gain
See cases
GPathogenic
HYCC1, ICA1
+879 more
Copy number gain
See cases
GPathogenic
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
LOC129998210, LOC129998211
+1148 more
Copy number gain
See cases
GPathogenic
ABCB5, ACTB
+1298 more
Copy number gain
See cases
GPathogenic
ABCB5, ACTB
+769 more
Copy number gain
See cases
GPathogenic
ACTB, FBXL18
+75 more
Copy number gain
See cases
GLikely pathogenic
ACTB, AIMP2
+119 more
Copy number gain
See cases
GUncertain significance
ACTB, FBXL18
+71 more
Copy number loss
See cases
GPathogenic
LOC129997877, LOC129997878
+137 more
Copy number loss
See cases
GPathogenic
LOC121144502, LOC123924895
+17 more
Copy number loss
See cases
Gconflicting data from submitters
ACTB, FBXL18
+69 more
Copy number loss
See cases
GPathogenic
ACTB, FBXL18
+52 more
Copy number gain
See cases
GUncertain significance
FBXL18, LINC02983
+19 more
Copy number gain
See cases
GUncertain significance
SLC29A4
(M24L)
Single nucleotide variant
(missense variant)
not provided
GBenign
SLC29A4
Single nucleotide variant
(synonymous variant)
SLC29A4-related disorder
GLikely benign
SLC29A4
(D29N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
(D29G)
Single nucleotide variant
(missense variant)
SLC29A4-related disorder
GBenign
SLC29A4
(A36V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
(A37V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
Single nucleotide variant
(synonymous variant)
SLC29A4-related disorder
GLikely benign
SLC29A4
Duplication
(inframe_insertion)
not provided
GUncertain significance
SLC29A4
(A39V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
(D59N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
(D64N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
(A73V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
(A77D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
(V79M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
(T102I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
(L121V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
(L121F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC29A4
(L147F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC29A4
(G179S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SLC29A4
Single nucleotide variant
(intron variant)
SLC29A4-related disorder
GLikely benign
SLC29A4
(T191M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
(M179T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
(T199M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
(G187R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
(E206K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
(T194A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
(R217P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
Duplication
(inframe_insertion)
SLC29A4-related disorder
GUncertain significance
SLC29A4
(V223L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
Single nucleotide variant
(synonymous variant)
SLC29A4-related disorder
GLikely benign
SLC29A4
(R242C +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
SLC29A4
(L259V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
(T249P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
(Y279C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
(R268G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
(H285Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SLC29A4
Single nucleotide variant
(intron variant)
not provided
GBenign
SLC29A4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SLC29A4
(P285L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
(P303L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
(S292C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
Single nucleotide variant
(synonymous variant)
SLC29A4-related disorder
GLikely benign
SLC29A4
(H299D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
Single nucleotide variant
(synonymous variant)
SLC29A4-related disorder
GLikely benign
SLC29A4
(G317S +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
SLC29A4
(G305S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
Single nucleotide variant
(synonymous variant)
SLC29A4-related disorder
GBenign
SLC29A4
(G320R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
(M309V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
Single nucleotide variant
(synonymous variant)
SLC29A4-related disorder
GBenign
SLC29A4
Single nucleotide variant
(synonymous variant)
SLC29A4-related disorder
GLikely benign
SLC29A4
(R315W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
(R334C +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
SLC29A4
(R334H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
(S321R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
(F339L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
Single nucleotide variant
(synonymous variant)
SLC29A4-related disorder
GBenign
SLC29A4
(V334M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
Single nucleotide variant
(synonymous variant)
SLC29A4-related disorder
GLikely benign
SLC29A4
(V348M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
(T349I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
Single nucleotide variant
(synonymous variant)
SLC29A4-related disorder
GLikely benign
SLC29A4
Single nucleotide variant
(synonymous variant)
SLC29A4-related disorder
GLikely benign
SLC29A4
(L394V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
(R413W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
(R413Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SLC29A4
(P423L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
(A428T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
(A428G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
(L429F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
(R444H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
(G443A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SLC29A4
(I469M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
(M478V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC29A4
(T482M +1 more)
Single nucleotide variant
(missense variant)
SLC29A4-related disorder
GUncertain significance
SLC29A4
Single nucleotide variant
(synonymous variant)
SLC29A4-related disorder
GBenign
SLC29A4
(R496H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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