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Items: 1 to 100 of 952

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANTKMT, ARHGDIG
+194 more
Copy number loss
See cases
GPathogenic
ANTKMT, ARHGDIG
+210 more
Copy number loss
See cases
GPathogenic
LOC112340388, LOC112441449
+821 more
Copy number gain
See cases
GPathogenic
ABCA3, AMDHD2
+356 more
Copy number gain
See cases
GPathogenic
LOC130058535, LOC130058536
+916 more
Copy number gain
See cases
GPathogenic
ANTKMT, ARHGDIG
+224 more
Copy number loss
See cases
GPathogenic
LOC125146383, LOC125146384
+556 more
Copy number gain
See cases
GPathogenic
ANTKMT, ARHGDIG
+179 more
Copy number loss
See cases
GPathogenic
LOC105371046, LOC105371050
+842 more
Copy number gain
See cases
GPathogenic
ANTKMT, ARHGDIG
+253 more
Copy number loss
See cases
GPathogenic
ARHGDIG, ATP6V0C
+482 more
Copy number gain
See cases
GPathogenic
ANTKMT, ARHGDIG
+164 more
Copy number loss
See cases
GPathogenic
LOC130058149, LOC130058150
+925 more
Copy number gain
See cases
GPathogenic
BAIAP3, BRICD5
+162 more
Copy number gain
See cases
GPathogenic
BAIAP3, CCDC154
+32 more
Copy number loss
See cases
GBenign
MAPK8IP3, MAPK8IP3-AS1
+88 more
Copy number gain
See cases
GPathogenic
GNPTG, LOC130058158
+1 more
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
GNPTG, LOC130058158
Single nucleotide variant
not provided
+1 more
GBenign/Likely benign
GNPTG, LOC130058158
Single nucleotide variant
GNPTG-mucolipidosis
GUncertain significance
GNPTG, LOC130058158
Single nucleotide variant
GNPTG-mucolipidosis
GUncertain significance
LOC130058158, GNPTG
Single nucleotide variant
GNPTG-mucolipidosis
GUncertain significance
LOC130058158, GNPTG
Single nucleotide variant
(5 prime UTR variant)
GNPTG-mucolipidosis
GUncertain significance
GNPTG, LOC130058158
Single nucleotide variant
(5 prime UTR variant)
GNPTG-mucolipidosis
+1 more
GConflicting classifications of pathogenicity
GNPTG, LOC130058158
Deletion
not provided
GPathogenic
GNPTG, LOC130058158
(M1fs)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
GNPTG, LOC130058158
Single nucleotide variant
(5 prime UTR variant)
GNPTG-mucolipidosis
GUncertain significance
GNPTG, LOC130058158
(A3fs)
Duplication
(frameshift variant +1 more)
not provided
GPathogenic
GNPTG, LOC130058158
Deletion
(initiator_codon_variant)
GNPTG-mucolipidosis
GUncertain significance
GNPTG, LOC130058158
(M1I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
GNPTG, LOC130058158
(A3del)
Microsatellite
(inframe_deletion +1 more)
GNPTG-mucolipidosis
+1 more
GUncertain significance
GNPTG, LOC130058158
(A2V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNPTG, LOC130058158
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC130058158, GNPTG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GNPTG, LOC130058158
(A3T)
Single nucleotide variant
(missense variant)
GNPTG-related disorder
+2 more
GConflicting classifications of pathogenicity
GNPTG, LOC130058158
(A3V)
Single nucleotide variant
(missense variant)
GNPTG-mucolipidosis
+1 more
GUncertain significance
GNPTG, LOC130058158
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNPTG, LOC130058158
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNPTG, LOC130058158
Duplication
(inframe_insertion)
not specified
GUncertain significance
GNPTG, LOC130058158
(G4E)
Single nucleotide variant
(missense variant)
GNPTG-mucolipidosis
GLikely benign
GNPTG, LOC130058158
(G4A)
Single nucleotide variant
(missense variant)
GNPTG-mucolipidosis
+1 more
GUncertain significance
GNPTG, LOC130058158
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNPTG, LOC130058158
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNPTG, LOC130058158
(L5V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNPTG, LOC130058158
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNPTG, LOC130058158
(A6fs)
Duplication
(frameshift variant)
not provided
GPathogenic
GNPTG, LOC130058158
(L9fs)
Duplication
(frameshift variant)
not provided
GPathogenic
GNPTG, LOC130058158
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNPTG, LOC130058158
(A6T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNPTG, LOC130058158
(A6S)
Single nucleotide variant
(missense variant)
GNPTG-mucolipidosis
GUncertain significance
GNPTG, LOC130058158
(A6V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNPTG, LOC130058158
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNPTG, LOC130058158
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNPTG, LOC130058158
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNPTG, LOC130058158
(R7W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNPTG, LOC130058158
(R7Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNPTG, LOC130058158
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNPTG, LOC130058158
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNPTG, LOC130058158
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNPTG, LOC130058158
(L8F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130058158, GNPTG
(L8H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GNPTG, LOC130058158
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNPTG, LOC130058158
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNPTG, LOC130058158
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNPTG, LOC130058158
(L9Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNPTG, LOC130058158
(L9P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNPTG, LOC130058158
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNPTG, LOC130058158
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNPTG, LOC130058158
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNPTG, LOC130058158
(L10*)
Single nucleotide variant
(nonsense)
GNPTG-mucolipidosis
+1 more
GConflicting classifications of pathogenicity
GNPTG, LOC130058158
(L11P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNPTG, LOC130058158
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNPTG, LOC130058158
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNPTG, LOC130058158
(G13R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNPTG, LOC130058158
(G13fs)
Indel
(frameshift variant)
GNPTG-mucolipidosis
GLikely pathogenic
GNPTG, LOC130058158
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC130058158, GNPTG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNPTG, LOC130058158
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GNPTG, LOC130058158
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNPTG, LOC130058158
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNPTG, LOC130058158
(A16V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GNPTG, LOC130058158
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC130058158, GNPTG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GNPTG, LOC130058158
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
GNPTG, LOC130058158
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
GNPTG, LOC130058158
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
GNPTG, LOC130058158
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
LOC130058158, GNPTG
Single nucleotide variant
(intron variant)
GNPTG-mucolipidosis
GUncertain significance
GNPTG, LOC130058158
Duplication
(intron variant)
not provided
GLikely benign
LOC130058158, GNPTG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GNPTG, LOC130058158
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GNPTG, LOC130058158
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GNPTG, LOC130058158
Deletion
(intron variant)
GNPTG-mucolipidosis
GUncertain significance
GNPTG, LOC130058158
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GNPTG, LOC130058158
Duplication
(intron variant)
not provided
GLikely benign
GNPTG, LOC130058158
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GNPTG, LOC130058158
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GNPTG, LOC130058158
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GNPTG, LOC130058158
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GNPTG, LOC130058158
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GNPTG, LOC130058158
Single nucleotide variant
(intron variant)
not provided
GLikely benign
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