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Items: 1 to 100 of 2962

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130057806, LOC130057807
+1763 more
Copy number gain
See cases
GPathogenic
ABHD17C, ABHD2
+1244 more
Copy number gain
See cases
GPathogenic
LOC130057831, LOC130057832
+664 more
Copy number gain
See cases
GPathogenic
ABHD2, ACAN
+630 more
Copy number gain
See cases
GPathogenic
LOC130057938, LOC130057939
+611 more
Copy number gain
See cases
GPathogenic
ABHD2, ACAN
+552 more
Copy number gain
See cases
GPathogenic
LOC121530602, LOC121530603
+517 more
Copy number gain
See cases
GPathogenic
LOC129390732, LOC129390733
+500 more
Copy number gain
See cases
GPathogenic
LOC126862240, LOC126862241
+311 more
Copy number gain
See cases
GPathogenic
POLG, RLBP1
(S168fs)
Deletion
(frameshift variant)
Progressive sclerosing poliodystrophy
+1 more
GPathogenic
FANCI, POLG
+1 more
Deletion
Fanconi anemia
GPathogenic
FANCI, POLG
Single nucleotide variant
(intron variant)
Fanconi anemia
+3 more
GBenign/Likely benign
FANCI, POLG
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group I
+4 more
GBenign/Likely benign
FANCI, POLG
Duplication
(intron variant)
POLG-Related Spectrum Disorders
+1 more
GUncertain significance
POLG, FANCI
Single nucleotide variant
(intron variant)
POLG-Related Spectrum Disorders
GUncertain significance
FANCI, POLG
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial disease
GUncertain significance
FANCI, POLG
+1 more
Duplication
(3 prime UTR variant +1 more)
Fanconi anemia
GLikely benign
FANCI, POLG
+1 more
Duplication
(3 prime UTR variant +1 more)
Fanconi anemia
GLikely benign
FANCI, POLG
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Fanconi anemia
GLikely benign
FANCI, POLG
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Fanconi anemia
GLikely benign
FANCI, POLG
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Fanconi anemia
GLikely benign
FANCI, POLG
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Fanconi anemia
GLikely benign
FANCI, POLG
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Fanconi anemia
GBenign
FANCI, POLG
+1 more
Deletion
(3 prime UTR variant +1 more)
Fanconi anemia
GLikely benign
FANCI, POLG
+1 more
Deletion
(3 prime UTR variant +1 more)
Fanconi anemia
GBenign
FANCI, POLG
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Fanconi anemia
GLikely benign
FANCI, POLG
+1 more
Inversion
(3 prime UTR variant +1 more)
Fanconi anemia
GUncertain significance
POLG, FANCI
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Fanconi anemia
GLikely benign
FANCI, POLG
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Fanconi anemia
GLikely benign
FANCI, POLG
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Fanconi anemia
GLikely benign
FANCI, POLG
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Fanconi anemia
GLikely benign
FANCI, POLG
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Fanconi anemia
GLikely benign
FANCI, POLG
+1 more
(G1249S +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Fanconi anemia
GUncertain significance
FANCI, POLG
+1 more
Deletion
(stop lost +2 more)
Fanconi anemia complementation group I
GPathogenic
FANCI, POLG
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Fanconi anemia
GLikely benign
FANCI, POLG
+1 more
(A1251S +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Fanconi anemia
+1 more
GUncertain significance
FANCI, POLG
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Fanconi anemia
GLikely benign
FANCI, POLG
+1 more
(G1316R +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Fanconi anemia complementation group I
+2 more
GUncertain significance
FANCI, POLGARF
+1 more
(G1316E +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GLikely benign
FANCI, POLG
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
FANCI, POLG
+1 more
(Q1224* +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GPathogenic/Likely pathogenic
FANCI, POLG
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Fanconi anemia
GLikely benign
POLGARF, POLG
+1 more
(K1226fs +2 more)
Deletion
(3 prime UTR variant +1 more)
Fanconi anemia
GUncertain significance
FANCI, POLG
+1 more
(A1262V +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Fanconi anemia
GUncertain significance
FANCI, POLG
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Fanconi anemia
GLikely benign
FANCI, POLG
+1 more
(K1231R +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Fanconi anemia
GUncertain significance
FANCI, POLG
+1 more
(K1235fs +2 more)
Duplication
(3 prime UTR variant +1 more)
Fanconi anemia
GUncertain significance
FANCI, POLG
+1 more
(R1266T +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Fanconi anemia
GUncertain significance
FANCI, POLG
+1 more
(R1266M +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Fanconi anemia
GUncertain significance
FANCI, POLG
+1 more
Duplication
(3 prime UTR variant +2 more)
Fanconi anemia
GUncertain significance
FANCI, POLG
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Fanconi anemia
GLikely benign
FANCI, POLG
+1 more
Duplication
(3 prime UTR variant +2 more)
Fanconi anemia
GUncertain significance
POLG, POLGARF
+1 more
(K1268N +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Fanconi anemia
GUncertain significance
FANCI, POLG
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GUncertain significance
POLG, POLGARF
+1 more
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial disease
GUncertain significance
FANCI, POLG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial disease
GUncertain significance
POLG, POLGARF
+1 more
Single nucleotide variant
(3 prime UTR variant)
POLG-Related Spectrum Disorders
+1 more
GUncertain significance
FANCI, POLG
+1 more
Duplication
(3 prime UTR variant)
POLG-Related Spectrum Disorders
+2 more
GBenign/Likely benign
FANCI, POLG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Progressive sclerosing poliodystrophy
+3 more
GConflicting classifications of pathogenicity
FANCI, POLG
+1 more
Single nucleotide variant
(3 prime UTR variant)
POLG-Related Spectrum Disorders
+2 more
GConflicting classifications of pathogenicity
FANCI, POLG
+1 more
Single nucleotide variant
(3 prime UTR variant)
POLG-related disorder
GLikely benign
FANCI, POLG
+1 more
Single nucleotide variant
(3 prime UTR variant)
Fanconi anemia complementation group I
+3 more
GConflicting classifications of pathogenicity
FANCI, POLG
+1 more
Single nucleotide variant
(3 prime UTR variant)
not specified
GLikely benign
POLG, POLGARF
+1 more
Single nucleotide variant
(3 prime UTR variant)
not specified
GLikely benign
FANCI, POLG
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Progressive sclerosing poliodystrophy
GUncertain significance
FANCI, POLG
+1 more
Single nucleotide variant
(stop lost +1 more)
Progressive sclerosing poliodystrophy
GUncertain significance
FANCI, POLG
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Progressive sclerosing poliodystrophy
GLikely benign
FANCI, POLG
+1 more
(P1239L)
Single nucleotide variant
(missense variant +1 more)
Progressive sclerosing poliodystrophy
GUncertain significance
FANCI, POLG
+1 more
(P1239fs)
Deletion
(frameshift variant +1 more)
Progressive sclerosing poliodystrophy
GUncertain significance
FANCI, POLG
+1 more
(P1239T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
FANCI, POLG
+1 more
(G1238A)
Single nucleotide variant
(missense variant +1 more)
Progressive sclerosing poliodystrophy
GUncertain significance
FANCI, POLG
+1 more
(G1238R)
Single nucleotide variant
(missense variant +1 more)
Progressive sclerosing poliodystrophy
GUncertain significance
FANCI, POLG
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Progressive sclerosing poliodystrophy
GLikely benign
FANCI, POLG
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Progressive sclerosing poliodystrophy
GLikely benign
FANCI, POLG
+1 more
(P1237L)
Single nucleotide variant
(missense variant +1 more)
Progressive sclerosing poliodystrophy
GUncertain significance
FANCI, POLG
+1 more
(Q1236H)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia
+12 more
GBenign/Likely benign
FANCI, POLG
+1 more
(Q1236*)
Single nucleotide variant
(nonsense +1 more)
Progressive sclerosing poliodystrophy
GUncertain significance
FANCI, POLG
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Progressive sclerosing poliodystrophy
GLikely benign
FANCI, POLG
+1 more
(S1235R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FANCI, POLG
+1 more
(S1235fs)
Duplication
(frameshift variant +1 more)
not provided
GUncertain significance
FANCI, POLG
+1 more
(S1235fs)
Insertion
(frameshift variant +1 more)
Progressive sclerosing poliodystrophy
GUncertain significance
POLGARF, FANCI
+1 more
(R1234P)
Single nucleotide variant
(missense variant +1 more)
Progressive sclerosing poliodystrophy
+1 more
GUncertain significance
FANCI, POLG
+1 more
(R1234Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
FANCI, POLG
+1 more
(R1234*)
Single nucleotide variant
(nonsense +1 more)
Progressive sclerosing poliodystrophy
GUncertain significance
FANCI, POLG
+1 more
(R1234G)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia
+3 more
GUncertain significance
FANCI, POLG
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
FANCI, POLG
+1 more
(K1233N)
Single nucleotide variant
(missense variant +1 more)
Progressive sclerosing poliodystrophy
GUncertain significance
FANCI, POLG
+1 more
(E1232G)
Single nucleotide variant
(missense variant +1 more)
Progressive sclerosing poliodystrophy
GUncertain significance
FANCI, POLG
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Progressive sclerosing poliodystrophy
GLikely benign
FANCI, POLG
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Progressive sclerosing poliodystrophy
GLikely benign
FANCI, POLG
+1 more
(L1231V)
Single nucleotide variant
(missense variant +1 more)
Progressive sclerosing poliodystrophy
GUncertain significance
FANCI, POLG
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Progressive sclerosing poliodystrophy
GLikely benign
FANCI, POLG
+1 more
(S1230A)
Single nucleotide variant
(missense variant +1 more)
Progressive sclerosing poliodystrophy
GUncertain significance
FANCI, POLG
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Progressive sclerosing poliodystrophy
GLikely benign
FANCI, POLG
+1 more
(G1229V)
Single nucleotide variant
(missense variant +1 more)
Progressive sclerosing poliodystrophy
GUncertain significance
FANCI, POLG
+1 more
(G1229A)
Single nucleotide variant
(missense variant +1 more)
Progressive sclerosing poliodystrophy
GUncertain significance
FANCI, POLG
+1 more
(G1229D)
Single nucleotide variant
(missense variant +1 more)
Progressive sclerosing poliodystrophy
GUncertain significance
FANCI, POLG
+1 more
(K1228R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FANCI, POLG
+1 more
(T1227N)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
FANCI, POLG
+1 more
(L1226H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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