U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 97

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126861648, LOC126861649
+4836 more
Copy number gain
See cases
GPathogenic
ANKRD52, APOF
+124 more
Duplication
not specified
GUncertain significance
TIMELESS
(G1193E +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
TIMELESS
(L1188V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(K1167T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(P1160L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(A1155D +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(A1155T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
TIMELESS
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TIMELESS
(A1148T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign/Likely benign
TIMELESS
(A1132P +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TIMELESS
(R1129Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(K1127E +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(Q1107H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(P1088S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(R1080*)
Single nucleotide variant
(nonsense +1 more)
Advanced sleep phase syndrome, familial, 4
GPathogenic
TIMELESS
(F1060L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
TIMELESS
(E1057K +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(N1051D +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(P1042A +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(A1040G +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(R946Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(R939Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(R940W +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(R923Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(R921H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(V909I +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
TIMELESS
(R905W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
TIMELESS
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TIMELESS
(V855G +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(D838N +1 more)
Single nucleotide variant
(missense variant +1 more)
Advance sleep phase syndrome, familial, 4
GBenign
TIMELESS
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TIMELESS
(Y806C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(M802I +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(F768L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(R752H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(R752C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(D734G +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(H733R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC126861537, TIMELESS
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LOC126861537, TIMELESS
(L709P +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC126861537, TIMELESS
(S684L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC126861537, TIMELESS
(G664E +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LOC126861537, TIMELESS
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC126861537, TIMELESS
(F632S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(R601Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(E594K +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(V591M +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(M577V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
TIMELESS
(S574F +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(S551N +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(S551F +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(C516Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
TIMELESS
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
TIMELESS
(L508V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(T505A +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(R495C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(Q493P +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(F485L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(L484F +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(N470K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TIMELESS
(I468F +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(R465G +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(R434W +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(R425L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(R426H +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(Y419C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(V398I +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(R394Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
TIMELESS
(M358V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(R355Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(N337S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(N337I +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(A334D +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(R332C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(R321C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
Single nucleotide variant
(intron variant)
Advance sleep phase syndrome, familial, 4
GUncertain significance
TIMELESS
(G290R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(F277S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(R266Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(R241C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TIMELESS
(S206T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(A182S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(L173F)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
TIMELESS
(G144D)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(A129S)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
TIMELESS
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TIMELESS
(D37Y)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TIMELESS
(M5V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ANKRD52, APOF
+30 more
Copy number gain
not specified
GUncertain significance
AGAP2, ANKRD52
+105 more
Copy number gain
not provided
GPathogenic
HMGA2, HNF1A
+1006 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+1006 more
Copy number gain
See cases
GPathogenic
AGAP2, ARF3
+1007 more
Copy number gain
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination