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Items: 1 to 100 of 1178

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARD, ABRA
+3658 more
Copy number gain
See cases
GPathogenic
LOC129999937, LOC129999938
+3658 more
Copy number gain
See cases
GPathogenic
PKHD1L1, PKIA
+3656 more
Copy number gain
See cases
GPathogenic
LOC126860501, LOC126860502
+3652 more
Copy number gain
See cases
GPathogenic
MIR7705, MIR7848
+3656 more
Copy number gain
See cases
GPathogenic
LOC130000156, LOC130000157
+3106 more
Copy number gain
See cases
GPathogenic
ADHFE1, ALKAL1
+489 more
Copy number gain
See cases
GPathogenic
LINC02894, LINC02906
+1960 more
Copy number gain
See cases
GPathogenic
LOC130000438, LOC130000439
+421 more
Copy number gain
See cases
GPathogenic
ADHFE1, ARFGEF1
+417 more
Copy number gain
See cases
GPathogenic
ADHFE1, ARFGEF1
+228 more
Copy number loss
See cases
GPathogenic
LOC130000602, LOC130000603
+470 more
Copy number gain
See cases
GPathogenic
LOC130000640, LOC130000641
+245 more
Copy number gain
See cases
GPathogenic
ARFGEF1, COPS5
+4 more
Copy number gain
See cases
GUncertain significance
CSPP1
Single nucleotide variant
(genic upstream transcript variant)
not provided
GBenign
CSPP1
Single nucleotide variant
(genic upstream transcript variant)
not provided
GLikely benign
CSPP1
Single nucleotide variant
(genic upstream transcript variant)
not provided
GLikely benign
CSPP1
(M1del)
Deletion
(inframe_deletion +1 more)
Joubert syndrome 21
GUncertain significance
CSPP1
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
CSPP1
(M1L)
Single nucleotide variant
(5 prime UTR variant +2 more)
Joubert syndrome 21
GUncertain significance
CSPP1
(M1L)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
CSPP1
(M1R)
Single nucleotide variant
(5 prime UTR variant +2 more)
Joubert syndrome 21
GUncertain significance
CSPP1
(M1K)
Single nucleotide variant
(5 prime UTR variant +2 more)
Joubert syndrome 21
GUncertain significance
CSPP1
(L2V)
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GUncertain significance
CSPP1
(L2Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GUncertain significance
CSPP1
(F3Y)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
CSPP1
(F3L)
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GUncertain significance
CSPP1
(P4R)
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GUncertain significance
CSPP1
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GLikely benign
CSPP1
(L5F)
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GUncertain significance
CSPP1
(L5I)
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GUncertain significance
CSPP1
(A8V)
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GUncertain significance
CSPP1
(A9D)
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GUncertain significance
CSPP1
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+3 more
GBenign/Likely benign
CSPP1
(S12F)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
CSPP1
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GLikely benign
CSPP1
(R15C)
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GUncertain significance
CSPP1
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GLikely benign
CSPP1
(D16G)
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GUncertain significance
CSPP1
(D16V)
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GUncertain significance
CSPP1
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GLikely benign
CSPP1
(D17N)
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GUncertain significance
CSPP1
(D17G)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
CSPP1
(L19V)
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GUncertain significance
CSPP1
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GLikely benign
CSPP1
(H21Y)
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GUncertain significance
CSPP1
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GLikely benign
CSPP1
(S24C)
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GUncertain significance
CSPP1
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GLikely benign
CSPP1
(R26W)
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GUncertain significance
CSPP1
(R26Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GUncertain significance
CSPP1
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GLikely benign
CSPP1
(R28*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GPathogenic
CSPP1
(R28P)
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GUncertain significance
CSPP1
(R28Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GUncertain significance
CSPP1
(A29T)
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GUncertain significance
CSPP1
(P32fs)
Deletion
(5 prime UTR variant +1 more)
Joubert syndrome 21
GPathogenic
CSPP1
(P32A)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
CSPP1
Deletion
(5 prime UTR variant +1 more)
Joubert syndrome 21
GLikely pathogenic
CSPP1
Single nucleotide variant
(intron variant +1 more)
Joubert syndrome 21
GUncertain significance
CSPP1
Deletion
(5 prime UTR variant +1 more)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(5 prime UTR variant +1 more)
Joubert syndrome 21
+1 more
GBenign
CSPP1
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
CSPP1
Duplication
(intron variant)
not provided
GBenign
CSPP1
Single nucleotide variant
(intron variant)
not provided
GBenign
CSPP1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CSPP1
Single nucleotide variant
(intron variant)
Joubert syndrome 21
GLikely benign
CSPP1
Duplication
(intron variant)
Joubert syndrome 21
+1 more
GBenign/Likely benign
CSPP1
Single nucleotide variant
(intron variant)
Joubert syndrome 21
GLikely benign
CSPP1
Deletion
(intron variant)
Joubert syndrome 21
GBenign
CSPP1
Single nucleotide variant
(intron variant)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(intron variant)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(splice acceptor variant)
Joubert syndrome 21
GLikely pathogenic
CSPP1
(A38V +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 21
+1 more
GUncertain significance
CSPP1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CSPP1
(D39A +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 21
GUncertain significance
CSPP1
Single nucleotide variant
(synonymous variant)
Joubert syndrome 21
GLikely benign
CSPP1
(D42E +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 21
GUncertain significance
CSPP1
(E7* +1 more)
Single nucleotide variant
(nonsense)
Joubert syndrome 21
GPathogenic
CSPP1
(I45T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CSPP1
(E47fs +1 more)
Deletion
(frameshift variant)
Joubert syndrome 21
GPathogenic
CSPP1
Single nucleotide variant
(synonymous variant)
Joubert syndrome 21
GLikely benign
CSPP1
(E11A +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 21
GUncertain significance
CSPP1
Single nucleotide variant
(synonymous variant)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(synonymous variant)
Joubert syndrome 21
GLikely benign
CSPP1
(L16V +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 21
GUncertain significance
CSPP1
Single nucleotide variant
(synonymous variant)
Joubert syndrome 21
+1 more
GBenign/Likely benign
CSPP1
Single nucleotide variant
(synonymous variant)
Joubert syndrome 21
+2 more
GLikely benign
CSPP1
(E18K +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 21
GUncertain significance
CSPP1
(K20Q +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 21
GUncertain significance
CSPP1
(K20fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CSPP1
Single nucleotide variant
(synonymous variant)
Joubert syndrome 21
GLikely benign
CSPP1
Single nucleotide variant
(synonymous variant)
Joubert syndrome 21
GLikely benign
CSPP1
(E24D +1 more)
Single nucleotide variant
(missense variant)
Joubert syndrome 21
GUncertain significance
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