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Items: 1 to 100 of 235

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806103, LOC126806104
+1047 more
Copy number gain
See cases
GPathogenic
ABHD1, ACP1
+893 more
Copy number gain
See cases
GPathogenic
LOC129933311, LOC129933312
+1631 more
Copy number gain
See cases
GPathogenic
LINC01115, LINC01121
+1400 more
Copy number gain
See cases
GPathogenic
HAAO, HADHA
+2457 more
Copy number gain
See cases
GBenign
TRY-GTA2-1, UBXN2A
+321 more
Copy number loss
See cases
GPathogenic
KRTCAP3
(G14V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRTCAP3
(V21M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRTCAP3
(V21A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRTCAP3
(A37S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRTCAP3
(T42A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRTCAP3
(S68L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRTCAP3
(L70V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRTCAP3
(R88S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRTCAP3
(A97T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRTCAP3
(N102K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRTCAP3
(L113F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRTCAP3
(V117G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRTCAP3
(G124D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRTCAP3
(R127H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRTCAP3
(G146E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRTCAP3
(A188T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRTCAP3
(R198K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRTCAP3
(D200E)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
KRTCAP3
(G204E)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
KRTCAP3
(Q224E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
KRTCAP3
(A234V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IFT172, KRTCAP3
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
IFT172, KRTCAP3
Single nucleotide variant
(intron variant)
not provided
GBenign
IFT172, KRTCAP3
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GBenign
IFT172, KRTCAP3
(Q1749E +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 71
+1 more
GUncertain significance
IFT172, KRTCAP3
(F1724L +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
GUncertain significance
IFT172, KRTCAP3
(S1721R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
IFT172, KRTCAP3
(S1743T +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 71
+1 more
GUncertain significance
IFT172, KRTCAP3
(C1738G +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 71
+1 more
GUncertain significance
IFT172, KRTCAP3
Deletion
(inframe_indel +1 more)
Retinitis pigmentosa 71
+1 more
GUncertain significance
IFT172, KRTCAP3
(S1713N +1 more)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GUncertain significance
IFT172, KRTCAP3
(V1708L +1 more)
Single nucleotide variant
(missense variant +1 more)
IFT172-related disorder
GUncertain significance
IFT172, KRTCAP3
(V1730M +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 71
+1 more
GUncertain significance
IFT172, KRTCAP3
Single nucleotide variant
(synonymous variant +1 more)
Short-rib thoracic dysplasia 10 with or without polydactyly
+4 more
GBenign/Likely benign
IFT172, KRTCAP3
(Q1728K +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 71
+1 more
GUncertain significance
IFT172, KRTCAP3
(C1727R +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa
+3 more
GPathogenic
IFT172, KRTCAP3
(S1702I +1 more)
Single nucleotide variant
(missense variant +1 more)
IFT172-related disorder
GUncertain significance
IFT172, KRTCAP3
Deletion
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GPathogenic
IFT172, KRTCAP3
(S1724G +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 71
+1 more
GUncertain significance
IFT172, KRTCAP3
(S1724R +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 71
+1 more
GUncertain significance
IFT172, KRTCAP3
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, KRTCAP3
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, KRTCAP3
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 71
+1 more
GLikely benign
IFT172, KRTCAP3
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 71
+2 more
GBenign/Likely benign
IFT172, KRTCAP3
Microsatellite
(intron variant)
not provided
GBenign
IFT172, KRTCAP3
Duplication
(intron variant)
not provided
GBenign
IFT172, KRTCAP3
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, KRTCAP3
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, KRTCAP3
Microsatellite
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, KRTCAP3
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
KRTCAP3, IFT172
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, KRTCAP3
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 71
+1 more
GUncertain significance
IFT172, KRTCAP3
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GUncertain significance
IFT172, KRTCAP3
(K1698T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
IFT172, KRTCAP3
(K1720R +1 more)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GUncertain significance
IFT172, KRTCAP3
Single nucleotide variant
(synonymous variant +1 more)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, KRTCAP3
(M1717L +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 71
+3 more
GUncertain significance
IFT172, KRTCAP3
Single nucleotide variant
(synonymous variant +1 more)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, KRTCAP3
(N1691D +1 more)
Single nucleotide variant
(missense variant +1 more)
IFT172-related disorder
GUncertain significance
IFT172, KRTCAP3
(W1712fs +1 more)
Deletion
(frameshift variant +1 more)
Anophthalmia-microphthalmia syndrome
GLikely benign
IFT172, KRTCAP3
(D1710N +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
IFT172, KRTCAP3
(N1708K +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 71
+2 more
GLikely benign
IFT172, KRTCAP3
(A1707V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
KRTCAP3, IFT172
(A1706T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
IFT172, KRTCAP3
Single nucleotide variant
(synonymous variant +1 more)
Retinitis pigmentosa 71
+1 more
GLikely benign
IFT172, KRTCAP3
(R1702Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GUncertain significance
IFT172, KRTCAP3
(R1702W +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
+3 more
GUncertain significance
IFT172, KRTCAP3
(I1676T +1 more)
Single nucleotide variant
(missense variant +1 more)
IFT172-related disorder
+2 more
GUncertain significance
IFT172, KRTCAP3
Single nucleotide variant
(synonymous variant +1 more)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, KRTCAP3
(L1672V +1 more)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GUncertain significance
IFT172, KRTCAP3
Single nucleotide variant
(synonymous variant +1 more)
IFT172-related disorder
GLikely benign
IFT172, KRTCAP3
Single nucleotide variant
(intron variant +1 more)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely pathogenic
IFT172, KRTCAP3
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+2 more
GConflicting classifications of pathogenicity
KRTCAP3, IFT172
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, KRTCAP3
Single nucleotide variant
(intron variant)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, KRTCAP3
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 71
+1 more
GUncertain significance
IFT172, KRTCAP3
(G1690R +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 71
+1 more
GUncertain significance
IFT172, KRTCAP3
(L1687F +1 more)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 10 with or without polydactyly
+2 more
GUncertain significance
IFT172, KRTCAP3
(P1685S +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
IFT172, KRTCAP3
Single nucleotide variant
(synonymous variant +1 more)
Retinitis pigmentosa 71
+1 more
GLikely benign
IFT172, KRTCAP3
Single nucleotide variant
(synonymous variant +1 more)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
IFT172, KRTCAP3
(R1682Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
IFT172, KRTCAP3
(R1682G +1 more)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GUncertain significance
IFT172, KRTCAP3
(R1682* +1 more)
Single nucleotide variant
(nonsense +1 more)
Retinitis pigmentosa 71
+2 more
GPathogenic/Likely pathogenic
IFT172, KRTCAP3
(V1681I +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 71
+1 more
GUncertain significance
IFT172, KRTCAP3
(T1679S +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 71
+1 more
GUncertain significance
IFT172, KRTCAP3
(S1656T +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
GUncertain significance
IFT172, KRTCAP3
(S1678N +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 71
+1 more
GUncertain significance
IFT172, KRTCAP3
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IFT172, KRTCAP3
(A1677S +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 71
+1 more
GUncertain significance
IFT172, KRTCAP3
(V1675A +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 71
+1 more
GUncertain significance
IFT172, KRTCAP3
(S1651F +1 more)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GUncertain significance
IFT172, KRTCAP3
(A1650D +1 more)
Single nucleotide variant
(missense variant +1 more)
IFT172-related disorder
GUncertain significance
KRTCAP3, IFT172
(A1672G +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 71
+1 more
GUncertain significance
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