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Items: 1 to 100 of 611

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACER2, ACO1
+1005 more
Copy number gain
See cases
GPathogenic
LOC130001537, LOC130001538
+3785 more
Copy number gain
See cases
GPathogenic
LOC132089671, LOC132089672
+1213 more
Copy number gain
See cases
GPathogenic
LOC130002976, LOC130002977
+3784 more
Copy number gain
See cases
GPathogenic
LOC130001468, LOC130001469
+3785 more
Copy number gain
See cases
GPathogenic
DNAJB5, DNAJB5-DT
+3785 more
Copy number gain
See cases
GPathogenic
HRCT1, IFNA1
+1061 more
Copy number gain
See cases
GPathogenic
ABHD17B, ACER2
+1119 more
Copy number gain
See cases
GPathogenic
LOC114827838, LOC116186936
+3785 more
Copy number gain
See cases
GPathogenic
LOC124252641, LOC124252642
+3785 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+882 more
Copy number gain
See cases
GPathogenic
LINC03026, LINC03041
+1366 more
Copy number gain
See cases
GPathogenic
LOC114022701, LOC114022702
+3785 more
Copy number gain
See cases
GPathogenic
ABCA1, ABCA2
+3785 more
Copy number gain
See cases
GPathogenic
LOC130001672, LOC130001673
+983 more
Copy number gain
See cases
GPathogenic
DMAC1, DMRT1
+898 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+979 more
Copy number gain
See cases
GPathogenic
LINC03041, LINC03106
+898 more
Copy number gain
See cases
GPathogenic
LOC110120726, LOC110120727
+3785 more
Copy number gain
See cases
GPathogenic
LOC126860576, LOC126860577
+897 more
Copy number gain
See cases
GPathogenic
LOC130001469, LOC130001470
+898 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+893 more
Copy number gain
See cases
GPathogenic
ACER2, ACO1
+690 more
Copy number gain
See cases
GPathogenic
LOC126860615, LOC126860616
+435 more
Copy number gain
See cases
GLikely pathogenic
LOC130001735, LOC130001736
+503 more
Copy number gain
See cases
GPathogenic
ALDH1B1, ANKRD18B
+360 more
Copy number gain
See cases
GPathogenic
ALDH1B1, ANKRD18A
+219 more
Copy number gain
See cases
GPathogenic
GRHPR
Single nucleotide variant
(genic upstream transcript variant)
not provided
GBenign
GRHPR
Deletion
(genic upstream transcript variant)
not provided
GBenign
GRHPR
Single nucleotide variant
(genic upstream transcript variant)
not provided
GBenign
GRHPR
Single nucleotide variant
(genic upstream transcript variant)
not provided
GBenign
GRHPR
Single nucleotide variant
Primary hyperoxaluria, type II
+1 more
GBenign
GRHPR
Single nucleotide variant
(genic upstream transcript variant)
not provided
GBenign
LOC126860627, LOC129390075
+22 more
Deletion
not provided
GPathogenic
GRHPR
Single nucleotide variant
(5 prime UTR variant)
GRHPR-related disorder
GLikely benign
GRHPR
Indel
(5 prime UTR variant)
Primary hyperoxaluria, type II
GLikely pathogenic
GRHPR
Single nucleotide variant
(5 prime UTR variant)
GRHPR-related disorder
GLikely benign
GRHPR
(M1L)
Single nucleotide variant
(missense variant +1 more)
Primary hyperoxaluria, type II
GLikely pathogenic
GRHPR
(M1V)
Single nucleotide variant
(missense variant +1 more)
Primary hyperoxaluria, type II
GPathogenic/Likely pathogenic
GRHPR
(M1R)
Single nucleotide variant
(missense variant +1 more)
Primary hyperoxaluria, type II
GLikely pathogenic
GRHPR
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GRHPR
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
GRHPR
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GRHPR
(R5*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
GRHPR
(R5Q)
Single nucleotide variant
(missense variant)
Primary hyperoxaluria, type II
GUncertain significance
GRHPR
(L6F)
Single nucleotide variant
(missense variant)
GRHPR-related disorder
+2 more
GBenign/Likely benign
GRHPR
(F10fs)
Duplication
(frameshift variant)
not provided
GPathogenic
GRHPR
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GRHPR
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GRHPR
(T12A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GRHPR
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GRHPR
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GRHPR
(I15L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GRHPR
(A17fs)
Deletion
(frameshift variant)
Primary hyperoxaluria, type II
GPathogenic
GRHPR
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GRHPR
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GRHPR
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GRHPR
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GRHPR
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GRHPR
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GRHPR
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GRHPR
(L23P)
Single nucleotide variant
(missense variant)
Primary hyperoxaluria, type II
GPathogenic
GRHPR
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GRHPR
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GRHPR
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GRHPR
Single nucleotide variant
(splice donor variant)
Primary hyperoxaluria, type II
GLikely pathogenic
GRHPR
Single nucleotide variant
(splice donor variant)
Primary hyperoxaluria, type II
+1 more
GLikely pathogenic
GRHPR
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GRHPR
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GRHPR
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GRHPR
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GRHPR
Single nucleotide variant
(intron variant)
Primary hyperoxaluria, type II
GLikely benign
GRHPR
Indel
(intron variant)
Primary hyperoxaluria, type II
GLikely benign
GRHPR
Deletion
(intron variant)
Primary hyperoxaluria, type II
GBenign
GRHPR
Deletion
(intron variant)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
GRHPR
Indel
(intron variant)
Primary hyperoxaluria, type II
GPathogenic
GRHPR
Deletion
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GRHPR
Deletion
(intron variant)
Primary hyperoxaluria, type II
GPathogenic
GRHPR
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GRHPR
Single nucleotide variant
(intron variant)
Nephrolithiasis/nephrocalcinosis
+1 more
GConflicting classifications of pathogenicity
GRHPR
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
GRHPR
(C29R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GRHPR
(C29Y)
Single nucleotide variant
(missense variant)
Nephrolithiasis/nephrocalcinosis
+1 more
GUncertain significance
GRHPR
Deletion
(inframe_deletion)
not provided
GUncertain significance
GRHPR
(Q33fs)
Duplication
(frameshift variant)
Primary hyperoxaluria, type II
GLikely pathogenic
GRHPR
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
GRHPR
(Q33*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
GRHPR
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GRHPR
Deletion
(nonsense)
Primary hyperoxaluria, type II
+1 more
GPathogenic/Likely pathogenic
GRHPR
(W34fs)
Deletion
(frameshift variant)
not provided
GPathogenic
GRHPR
Deletion
(splice donor variant)
not provided
GLikely pathogenic
GRHPR
(W34*)
Single nucleotide variant
(nonsense)
Primary hyperoxaluria, type II
GLikely pathogenic
GRHPR
(D35fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
GRHPR
(W34*)
Single nucleotide variant
(nonsense)
Primary hyperoxaluria, type II
+1 more
GPathogenic/Likely pathogenic
GRHPR
(S36*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
GRHPR
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
GRHPR
(D37fs)
Indel
(frameshift variant)
Primary hyperoxaluria, type II
GPathogenic
GRHPR
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GRHPR
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GRHPR
(I40T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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