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Items: 1 to 100 of 6153

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGRN
(E665K +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
SKI
(A62G)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
SKI
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
SKI
(A388V)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
PEX10
(T294A +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GBenign/Likely benign
PRDM16
(A34T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
PRDM16
Single nucleotide variant
(synonymous variant)
Left ventricular noncompaction 8
GLikely benign
PRDM16
(V1101M)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
+2 more
GBenign
PRDM16
(E1207D)
Single nucleotide variant
(missense variant)
Left ventricular noncompaction 8
+3 more
GConflicting classifications of pathogenicity
CEP104, LOC126805586
Single nucleotide variant
(synonymous variant)
Joubert syndrome 25
+2 more
GBenign/Likely benign
CEP104
(H390R)
Single nucleotide variant
(missense variant)
Joubert syndrome 25
+2 more
GBenign/Likely benign
NPHP4
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
NPHP4
Deletion
(intron variant)
not specified
+1 more
GBenign/Likely benign
NPHP4
(P1160L +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 4
+5 more
GBenign
NPHP4
(A1110V +2 more)
Single nucleotide variant
(missense variant +1 more)
Kidney disorder
+5 more
GConflicting classifications of pathogenicity
NPHP4
(S972G +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GBenign/Likely benign
NPHP4
Single nucleotide variant
(splice acceptor variant)
Nephronophthisis
+1 more
GBenign
NPHP4
(R848W +2 more)
Single nucleotide variant
(missense variant +1 more)
Kidney disorder
+4 more
GBenign/Likely benign
NPHP4
(D753N +2 more)
Single nucleotide variant
(missense variant +1 more)
Kidney disorder
+5 more
GConflicting classifications of pathogenicity
NPHP4
(R740H +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis 4
+5 more
GConflicting classifications of pathogenicity
NPHP4
(E618K +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+5 more
GBenign/Likely benign
NPHP4
(Q569E +2 more)
Single nucleotide variant
(missense variant +1 more)
Nephronophthisis
+4 more
GBenign/Likely benign
NPHP4
(A544G +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GBenign/Likely benign
NPHP4
Single nucleotide variant
(intron variant)
NPHP4-related disorder
+3 more
GBenign/Likely benign
NPHP4
(P497R)
Single nucleotide variant
(missense variant +2 more)
Nephronophthisis
+2 more
GBenign
NPHP4
Single nucleotide variant
(synonymous variant +2 more)
Nephronophthisis 4
+5 more
GBenign
NPHP4
Single nucleotide variant
(intron variant)
Kidney disorder
+4 more
GBenign/Likely benign
NPHP4
Single nucleotide variant
(intron variant)
Nephronophthisis
+2 more
GBenign/Likely benign
NPHP4
(A171T)
Single nucleotide variant
(5 prime UTR variant +2 more)
Nephronophthisis
+2 more
GBenign/Likely benign
NPHP4
(F91L)
Single nucleotide variant
(5 prime UTR variant +3 more)
Nephronophthisis
+4 more
GConflicting classifications of pathogenicity
NPHP4
(T29M)
Single nucleotide variant
(5 prime UTR variant +3 more)
Nephronophthisis
+5 more
GBenign
PLEKHG5
(E723del +2 more)
Microsatellite
(inframe_deletion +1 more)
not provided
+4 more
GBenign/Likely benign
PLEKHG5
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease recessive intermediate C
+2 more
GBenign
PIK3CD
Single nucleotide variant
(synonymous variant)
Immunodeficiency 14
+2 more
GBenign/Likely benign
KIF1B
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
KIF1B
(M807I)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
KIF1B
(E1006G)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign/Likely benign
KIF1B
(I1031T)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
KIF1B
(N731S +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+4 more
GBenign
KIF1B, LOC126805614
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease
+4 more
GBenign/Likely benign
KIF1B
(Y1087C +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+4 more
GBenign
KIF1B
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
+4 more
GConflicting classifications of pathogenicity
KIF1B
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
KIF1B
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
+4 more
GBenign/Likely benign
KIF1B
(V1554M +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+4 more
GBenign
KIF1B
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 2
+4 more
GBenign
KIF1B
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
TARDBP
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
TARDBP
Duplication
(intron variant)
not provided
+1 more
GBenign
MTOR
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
MTOR
Single nucleotide variant
(synonymous variant)
MTOR-related disorder
+2 more
GBenign/Likely benign
MTHFR
(T653M +1 more)
Single nucleotide variant
(missense variant)
MTHFR-related disorder
+3 more
GBenign/Likely benign
MTHFR
(E470A)
Single nucleotide variant
(missense variant)
MTHFR-related disorder
+4 more
GBenign/Likely benign; other
MTHFR
(A222V +1 more)
Single nucleotide variant
(missense variant)
methotrexate response - Toxicity
Gdrug response
NPPA, NPPA-AS1
+1 more
(S64R)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 6
+2 more
GBenign/Likely benign
PLOD1
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GConflicting classifications of pathogenicity
MFN2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2
+5 more
GLikely benign
MFN2
(G298R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2
+8 more
GBenign/Likely benign
CLCNKB, LOC106501713
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
CLCNKB, LOC106501713
Single nucleotide variant
(intron variant)
not specified
+1 more
GConflicting classifications of pathogenicity
CLCNKB, LOC106501713
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SDHB
Microsatellite
(intron variant)
Pheochromocytoma
+5 more
GConflicting classifications of pathogenicity
SDHB
Single nucleotide variant
(intron variant)
not specified
+5 more
GConflicting classifications of pathogenicity
SDHB
Single nucleotide variant
(synonymous variant)
Hereditary pheochromocytoma-paraganglioma
+9 more
GBenign/Likely benign
SDHB
Single nucleotide variant
(synonymous variant)
Hereditary pheochromocytoma-paraganglioma
+7 more
GConflicting classifications of pathogenicity
SDHB
Single nucleotide variant
(synonymous variant)
not specified
+8 more
GBenign
PADI3
(A294V)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
HSPG2, LDLRAD2
(A4328T +1 more)
Single nucleotide variant
(missense variant +1 more)
Connective tissue disorder
+5 more
GBenign/Likely benign
HSPG2
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GBenign/Likely benign
HSPG2
(G2950R +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
HSPG2
(V2849L +1 more)
Single nucleotide variant
(missense variant)
HSPG2-related disorder
+5 more
GBenign/Likely benign
HSPG2
(S2446L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HSPG2
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
HSPG2
(I2038M +1 more)
Single nucleotide variant
(missense variant)
Lethal Kniest-like syndrome
+3 more
GBenign
HSPG2
Single nucleotide variant
(intron variant)
Lethal Kniest-like syndrome
+3 more
GBenign/Likely benign
HSPG2
(R1919C +1 more)
Single nucleotide variant
(missense variant)
Lethal Kniest-like syndrome
+6 more
GBenign/Likely benign
HSPG2
Deletion
(intron variant)
not provided
+4 more
GConflicting classifications of pathogenicity
HSPG2
(R413Q)
Single nucleotide variant
(missense variant)
Lethal Kniest-like syndrome
+4 more
GBenign/Likely benign
SELENON
(T137A +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
SELENON
(C142Y +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
SELENON
(A195T +1 more)
Single nucleotide variant
(missense variant)
Eichsfeld type congenital muscular dystrophy
+3 more
GBenign/Likely benign
SELENON
Single nucleotide variant
(intron variant)
Eichsfeld type congenital muscular dystrophy
+3 more
GBenign/Likely benign
SELENON
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
SELENON
(N502K +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
TRIM63
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TRIM63
Deletion
(intron variant)
not specified
GLikely benign
TRIM63
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
TRIM63
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
TRIM63
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
SLC9A1
Single nucleotide variant
(synonymous variant +1 more)
Lichtenstein-Knorr syndrome
+1 more
GBenign/Likely benign
FCN3
(E155D +1 more)
Single nucleotide variant
(missense variant)
Immunodeficiency due to ficolin3 deficiency
GLikely benign
FCN3
Single nucleotide variant
(splice donor variant)
Immunodeficiency due to ficolin3 deficiency
+1 more
GUncertain significance
EPB41
(P82S +2 more)
Single nucleotide variant
(missense variant)
Elliptocytosis 1
+1 more
GBenign/Likely benign
YARS1
(A339T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate C
+2 more
GBenign
GJB3
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
GJB3
(R160H)
Single nucleotide variant
(missense variant)
GJB3-related disorder
+3 more
GConflicting classifications of pathogenicity
CSF3R
Single nucleotide variant
(synonymous variant)
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
+1 more
GBenign/Likely benign
CSF3R
(R440Q)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
CSF3R
(E149D)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CSF3R
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
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