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Links from Gene

Items: 52

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZPR1
Single nucleotide variant
(synonymous variant)
Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies
GUncertain significance
LOC130006797, ZPR1
(R33W)
Single nucleotide variant
(missense variant)
Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies
GUncertain significance
ZPR1
(I90V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZPR1
(E375Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZPR1
(R224Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZPR1
(E119Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZPR1
(T232A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZPR1
(R226Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
LOC130006797, ZPR1
(V16I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZPR1
(R362W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZPR1
(E301K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APOA5, ZPR1
(C227*)
Single nucleotide variant
(nonsense)
Hypertriglyceridemia 1
GLikely pathogenic
APOA5, BUD13
+1 more
Copy number loss
not provided
GUncertain significance
APOA1, APOA4
+6 more
Copy number gain
not provided
GUncertain significance
AASDHPPT, ABCG4
+275 more
Duplication
not provided
GPathogenic
ZPR1
(F333L +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ZPR1
(M267T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZPR1
(R430P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130006797, ZPR1
(N53T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZPR1
(R405W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZPR1
(A216V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZPR1
(R310S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZPR1
(R294W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZPR1
(A170P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZPR1
(R405Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130006797, ZPR1
(D39N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZPR1
(E123K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZPR1
(S358I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZPR1
(E367Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZPR1
(A402G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZPR1
(N204I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ZPR1
(L105F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ZPR1
(S79F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC130006797, ZPR1
(A21T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MAML2, MAP3K11
+955 more
Copy number gain
MISSED ABORTION
GPathogenic
ABCG4, ACRV1
+172 more
Copy number gain
not provided
GPathogenic
AASDHPPT, ACAT1
+182 more
Copy number loss
not provided
GUncertain significance
ZPR1
(I196T +1 more)
Single nucleotide variant
(missense variant)
Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies
GPathogenic
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
VSIG2, VWA5A
+259 more
Duplication
Distal trisomy 11q
GPathogenic
APLP2, LINC02873
+169 more
Deletion
Anemia
+7 more
GLikely pathogenic
ZPR1
(A419V +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
AASDHPPT, ACAT1
+80 more
Copy number loss
not provided
GPathogenic
AAMDC, AASDHPPT
+261 more
Copy number gain
not provided
GPathogenic
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
ABCG4, APOA1
+72 more
Copy number gain
See cases
GPathogenic
APOA1, APOA1-AS
+83 more
Copy number gain
See cases
GUncertain significance
BCL9L, BLID
+774 more
Copy number gain
See cases
GPathogenic
LOC130006826, LOC130006827
+90 more
Copy number gain
See cases
GPathogenic
AASDHPPT, ABCG4
+1199 more
Copy number gain
See cases
GPathogenic
LOC130006895, LOC130006896
+355 more
Copy number gain
See cases
GPathogenic
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