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Items: 1 to 100 of 1540

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD1, ACP1
+1047 more
Copy number gain
See cases
GPathogenic
C2orf48, C2orf50
+893 more
Copy number gain
See cases
GPathogenic
ABCG5, ABCG8
+1631 more
Copy number gain
See cases
GPathogenic
ABCG5, ABCG8
+1400 more
Copy number gain
See cases
GPathogenic
LOC126806252, LOC126806253
+2457 more
Copy number gain
See cases
GBenign
TRY-GTA2-1, UBXN2A
+321 more
Copy number loss
See cases
GPathogenic
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 specified
+1 more
GBenign
IFT172, KRTCAP3
(Q1749E +1 more)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 10 with or without polydactyly
+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
(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)
not provided
+4 more
GBenign/Likely benign
IFT172, KRTCAP3
(Q1728K +1 more)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GUncertain significance
IFT172, KRTCAP3
(C1727R +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa
+3 more
GPathogenic
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)
Short-rib thoracic dysplasia 10 with or without polydactyly
+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)
Bardet-Biedl syndrome 20
+2 more
GBenign/Likely benign
KRTCAP3, IFT172
Microsatellite
(intron variant)
not provided
GBenign
IFT172, KRTCAP3
Duplication
(intron variant)
not provided
GBenign
IFT172, KRTCAP3
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 71
+1 more
GLikely benign
IFT172, KRTCAP3
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 71
+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)
Retinitis pigmentosa 71
+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
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)
Short-rib thoracic dysplasia 10 with or without polydactyly
+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
(N1691D +1 more)
Single nucleotide variant
(missense variant +1 more)
IFT172-related disorder
GUncertain significance
KRTCAP3, IFT172
(W1712fs +1 more)
Deletion
(frameshift variant +1 more)
Anophthalmia-microphthalmia syndrome
GLikely benign
KRTCAP3, IFT172
(D1710N +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GUncertain significance
IFT172, KRTCAP3
(N1708K +1 more)
Single nucleotide variant
(missense variant +1 more)
IFT172-related disorder
+3 more
GLikely benign
IFT172, KRTCAP3
(A1707V +1 more)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 10 with or without polydactyly
+2 more
GUncertain significance
IFT172, KRTCAP3
(A1706T +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)
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)
Retinitis pigmentosa 71
+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)
Retinitis pigmentosa 71
+1 more
GUncertain significance
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)
IFT172-related disorder
+3 more
GConflicting classifications of pathogenicity
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
GUncertain significance
KRTCAP3, IFT172
(G1690R +1 more)
Single nucleotide variant
(missense variant +1 more)
IFT172-related disorder
+2 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)
Short-rib thoracic dysplasia 10 with or without polydactyly
+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
Single nucleotide variant
(synonymous variant +1 more)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GLikely benign
KRTCAP3, IFT172
(R1682Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 71
+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)
Short-rib thoracic dysplasia 10 with or without polydactyly
+2 more
GPathogenic/Likely pathogenic
IFT172, KRTCAP3
(V1681I +1 more)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 10 with or without polydactyly
+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)
Short-rib thoracic dysplasia 10 with or without polydactyly
+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)
Short-rib thoracic dysplasia 10 with or without polydactyly
+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)
Retinitis pigmentosa 71
+1 more
GUncertain significance
IFT172, KRTCAP3
(A1672G +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
KRTCAP3, IFT172
(A1669T +1 more)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 10 with or without polydactyly
+2 more
GUncertain significance
IFT172, KRTCAP3
(R1667H +1 more)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 10 with or without polydactyly
+2 more
GUncertain significance
IFT172, KRTCAP3
(R1667C +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 71
+1 more
GUncertain significance
IFT172, KRTCAP3
(E1666D +1 more)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GUncertain significance
IFT172, KRTCAP3
(E1666G +1 more)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GUncertain significance
IFT172, KRTCAP3
(E1666K +1 more)
Single nucleotide variant
(missense variant +1 more)
IFT172-related disorder
+4 more
GUncertain significance
IFT172, KRTCAP3
(R1664Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GUncertain significance
IFT172, KRTCAP3
(R1664W +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 71
+2 more
GBenign
IFT172, KRTCAP3
(P1663L +1 more)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GUncertain significance
IFT172, KRTCAP3
(V1661I +1 more)
Single nucleotide variant
(missense variant +1 more)
IFT172-related disorder
+2 more
GUncertain significance
IFT172, KRTCAP3
(E1659Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 71
+1 more
GUncertain significance
IFT172, KRTCAP3
(R1635Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
IFT172, KRTCAP3
(Q1634* +1 more)
Single nucleotide variant
(nonsense +1 more)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GPathogenic
IFT172, KRTCAP3
(D1633G +1 more)
Single nucleotide variant
(missense variant +1 more)
IFT172-related disorder
GUncertain significance
IFT172, KRTCAP3
(M1654V +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 71
+3 more
GConflicting classifications of pathogenicity
IFT172, KRTCAP3
Single nucleotide variant
(synonymous variant +1 more)
Short-rib thoracic dysplasia 10 with or without polydactyly
+2 more
GConflicting classifications of pathogenicity
IFT172, KRTCAP3
(W1648C +1 more)
Single nucleotide variant
(missense variant +1 more)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GUncertain significance
IFT172, KRTCAP3
(D1647E +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
IFT172, KRTCAP3
Deletion
(inframe_deletion +1 more)
Retinitis pigmentosa 71
+2 more
GUncertain significance
KRTCAP3, IFT172
(R1646Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
+4 more
GUncertain significance
IFT172, KRTCAP3
(R1646* +1 more)
Single nucleotide variant
(nonsense +1 more)
Short-rib thoracic dysplasia 10 with or without polydactyly
+1 more
GPathogenic
IFT172, KRTCAP3
(V1623A +1 more)
Single nucleotide variant
(missense variant +1 more)
IFT172-related disorder
GUncertain significance
IFT172, KRTCAP3
(V1645I +1 more)
Single nucleotide variant
(missense variant +1 more)
IFT172-related disorder
+3 more
GBenign/Likely benign
KRTCAP3, IFT172
(R1642fs +1 more)
Microsatellite
(frameshift variant +1 more)
Retinitis pigmentosa 71
+2 more
GPathogenic
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