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Items: 1 to 100 of 271

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A1CF, ADAMTS14
+902 more
Copy number gain
See cases
GPathogenic
LOC129390180, LOC129390181
+1008 more
Copy number gain
See cases
GPathogenic
LOC129390190, LOC129390191
+610 more
Copy number loss
See cases
GPathogenic
HERC4, HK1
+514 more
Copy number loss
See cases
GPathogenic
LOC130004125, LOC130004126
+580 more
Copy number gain
See cases
GPathogenic
ADAMTS14, LINC02622
+26 more
Copy number gain
See cases
GUncertain significance
SGPL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SGPL1
(S3fs)
Duplication
(frameshift variant)
Nephrotic syndrome 14
GPathogenic
SGPL1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SGPL1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SGPL1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SGPL1
(A11V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SGPL1
(Y15C)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SGPL1
(V21L)
Single nucleotide variant
(missense variant)
Nephrotic syndrome 14
+1 more
GBenign
SGPL1
(S23C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SGPL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SGPL1
(K25E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SGPL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SGPL1
Deletion
(nonsense)
Nephrotic syndrome 14
GLikely pathogenic
SGPL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SGPL1
(W45*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
SGPL1
(V48M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SGPL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SGPL1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
SGPL1
(W55*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
SGPL1
(G56*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
SGPL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SGPL1
(F61C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SGPL1
(E64D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SGPL1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SGPL1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SGPL1
Single nucleotide variant
(intron variant)
not provided
GBenign
SGPL1
Single nucleotide variant
(intron variant)
not provided
GBenign
SGPL1
(R69G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SGPL1
(R79K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SGPL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SGPL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SGPL1
(R86C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SGPL1
Single nucleotide variant
(splice donor variant)
Nephrotic syndrome 14
GPathogenic
SGPL1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SGPL1
Single nucleotide variant
(intron variant)
not provided
GBenign
SGPL1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SGPL1
Duplication
(intron variant)
not provided
GLikely benign
SGPL1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SGPL1
(Q89H)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SGPL1
(D90E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SGPL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SGPL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SGPL1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
SGPL1
(L106P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SGPL1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SGPL1
(K110E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SGPL1
(E111D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SGPL1
(Y112H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SGPL1
(S122R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SGPL1
(S123P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SGPL1
(Y133fs)
Deletion
(frameshift variant)
not provided
GPathogenic
SGPL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SGPL1
(M136L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SGPL1
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
SGPL1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SGPL1
Single nucleotide variant
(intron variant)
not provided
GBenign
SGPL1
Single nucleotide variant
(intron variant)
not provided
GBenign
SGPL1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SGPL1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SGPL1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SGPL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SGPL1
(A138S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SGPL1
(A138V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SGPL1
(G147A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SGPL1
(S151N)
Single nucleotide variant
(missense variant)
Nephrotic syndrome 14
GUncertain significance
SGPL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SGPL1
(E154K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SGPL1
(K155E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SGPL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SGPL1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SGPL1
Single nucleotide variant
(intron variant)
not provided
GBenign
SGPL1
Single nucleotide variant
(intron variant)
not provided
GBenign
SGPL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SGPL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SGPL1
(L173fs)
Duplication
(frameshift variant)
not provided
GPathogenic
SGPL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SGPL1
(P172A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SGPL1
(P172S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SGPL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SGPL1
(R182C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SGPL1
(I184T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SGPL1
Single nucleotide variant
(synonymous variant)
Nephrotic syndrome 14
+1 more
GBenign
SGPL1
(N197S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SGPL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SGPL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SGPL1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SGPL1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SGPL1
Single nucleotide variant
(intron variant)
not provided
GBenign
SGPL1
Single nucleotide variant
(intron variant)
not provided
GBenign
SGPL1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SGPL1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SGPL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SGPL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SGPL1
(R222W)
Single nucleotide variant
(missense variant)
Nephrotic syndrome 14
GPathogenic
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