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Links from Gene

Items: 34

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDLIM4
(R192W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
FSTL4, GDF9
+63 more
Copy number loss
not provided
GPathogenic
PDLIM4
(R21W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PDLIM4
(A246V)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
PDLIM4
(P140L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
P4HA2, PDLIM4
+1 more
Copy number loss
not specified
GUncertain significance
PDLIM4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PDLIM4
(P141R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACSL6, ADAMTS19
+44 more
Copy number loss
Houge-Janssens syndrome 3
GPathogenic
PDLIM4
(S4F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDLIM4
(G221C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDLIM4
(V330F)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
PDLIM4
(P119L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDLIM4
(P113R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDLIM4
(E152K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
P4HA2, PDLIM4
+2 more
Deletion
Renal carnitine transport defect
GPathogenic
IL3, LYRM7
+10 more
Deletion
Renal carnitine transport defect
GPathogenic
P4HA2, PDLIM4
+1 more
Copy number loss
not provided
GUncertain significance
C5orf24, C5orf34
+600 more
Deletion
Neurodevelopmental disorder
GUncertain significance
ACSL6, ADAMTS19
+68 more
Copy number loss
not provided
GLikely pathogenic
SLC22A4, LEAP2
+19 more
Copy number gain
Blepharophimosis
+5 more
GUncertain significance
HARS1, HARS2
+385 more
Deletion
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
DHFR, DHX29
+738 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ARL10, ARL14EPL
+511 more
Copy number gain
not provided
GLikely benign
HRH2, HSD17B4
+520 more
Copy number gain
See cases
GPathogenic
LOC129994992, LOC129994993
+1157 more
Copy number gain
See cases
GPathogenic
ACSL6, ACSL6-AS1
+263 more
Copy number loss
See cases
GPathogenic
LOC129994580, LOC129994581
+336 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACSL6
+1672 more
Copy number loss
See cases
GPathogenic
LOC129994513, LOC129994514
+200 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACSL6
+1218 more
Copy number gain
See cases
GPathogenic
PDLIM4
Single nucleotide variant
Bone mineral density quantitative trait locus 15
Grisk factor
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