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Links from Gene

Items: 1 to 100 of 106

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPATA4
(Q220R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA4
(H282R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA4
(L223S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA4
(I81T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA4
(R175C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA4
(L178M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA4
(I271T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SPATA4
(L257F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA4
(P177S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA4
(L151F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM29, AGA
+17 more
Copy number gain
not provided
GPathogenic
FAT1, FAT4
+197 more
Copy number gain
not specified
GPathogenic
AADAT, ACSL1
+85 more
Copy number loss
not specified
GPathogenic
ACSL1, ADAM29
+34 more
Copy number loss
not specified
GPathogenic
AADAT, ABCE1
+286 more
Copy number gain
not specified
GPathogenic
ENPP6, F11
+68 more
Copy number loss
not provided
GPathogenic
HPGDS, SCRG1
+537 more
Copy number gain
not provided
GPathogenic
GLRA3, GPM6A
+27 more
Copy number loss
not provided
GLikely pathogenic
AADAT, ACSL1
+69 more
Copy number gain
not provided
GPathogenic
SPATA4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPATA4
(R253H)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SPATA4
(I32V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA4
(R57L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA4
(R120I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA4
(E230D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA4
(L152I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA4
(I87K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA4
(T237S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA4
(N202D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA4
(L95S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA4
(T168M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA4
(Q249R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA4
(Q60H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA4
(R261S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA4
(A210V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SPATA4
(R253G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA4
(Q60L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AADAT, ACSL1
+69 more
Copy number loss
See cases
GPathogenic
CYP4V2, HAND2
+93 more
Copy number loss
See cases
GPathogenic
ACSL1, ADAM29
+50 more
Copy number loss
FETAL DEMISE
GPathogenic
ACSL1, ADAM29
+46 more
Copy number gain
not specified
GPathogenic
AADAT, ACSL1
+86 more
Copy number gain
not specified
GPathogenic
AADAT, ADAM29
+35 more
Copy number loss
See cases
GPathogenic
ASB5, GPM6A
+3 more
Copy number gain
not provided
GUncertain significance
SCRG1, SH3RF1
+79 more
Copy number loss
not provided
GPathogenic
AADAT, ABCE1
+163 more
Copy number gain
not provided
GPathogenic
ASB5, GPM6A
+3 more
Copy number gain
not provided
GUncertain significance
AADAT, ACSL1
+131 more
Copy number gain
not provided
GPathogenic
ASB5, SPATA4
+3 more
Copy number gain
not provided
GUncertain significance
AADAT, ACSL1
+65 more
Copy number gain
not provided
GPathogenic
CPE, DDX60
+36 more
Copy number gain
not provided
GPathogenic
AADAT, ACSL1
+70 more
Copy number loss
not provided
GPathogenic
SCRG1, SPATA4
+17 more
Deletion
Neurodevelopmental disorder
GPathogenic
CLDN22, FAM149A
+48 more
Copy number loss
not provided
GPathogenic
RWDD4, SAP30
+54 more
Copy number loss
not provided
GPathogenic
ACSL1, AGA
+45 more
Copy number loss
not provided
GPathogenic
ACSL1, ADAM29
+47 more
Copy number loss
not provided
GPathogenic
AADAT, ACSL1
+63 more
Copy number loss
not provided
GPathogenic
AADAT, ACSL1
+92 more
Copy number gain
not provided
GPathogenic
AADAT, ADAM29
+60 more
Copy number gain
not provided
GPathogenic
ANKRD37, ACSL1
+43 more
Deletion
not provided
GPathogenic
AADAT, ACSL1
+102 more
Copy number gain
See cases
GPathogenic
AADAT, ABCE1
+314 more
Copy number gain
See cases
GPathogenic
AADAT, ACSL1
+70 more
Copy number gain
See cases
GPathogenic
ACSL1, AGA
+45 more
Copy number gain
See cases
GPathogenic
CFAP97, CFI
+255 more
Copy number gain
See cases
GPathogenic
AADAT, ADAM29
+46 more
Copy number loss
See cases
GPathogenic
AADAT, AASDH
+745 more
Copy number gain
See cases
GPathogenic
MRPL1, MSANTD1
+745 more
Copy number gain
See cases
GPathogenic
AADAT, ACSL1
+118 more
Copy number gain
See cases
GPathogenic
H2AZ1, HADH
+744 more
Copy number gain
See cases
GPathogenic
SCOC, SCRG1
+218 more
Copy number gain
See cases
GPathogenic
AADAT, ABCE1
+142 more
Copy number gain
See cases
GPathogenic
ACSL1, AGA
+43 more
Copy number loss
See cases
GPathogenic
LOC126807223, SPATA4
+1 more
Copy number loss
Premature ovarian failure
GUncertain significance
LOC132090717, LOC132090718
+1051 more
Copy number gain
See cases
GPathogenic
LOC129993480, LOC129993481
+451 more
Copy number gain
See cases
GPathogenic
LOC126807230, LOC126807231
+383 more
Copy number loss
See cases
GPathogenic
ACSL1, ADAM29
+372 more
Copy number loss
See cases
GPathogenic
AADAT, ACSL1
+386 more
Copy number loss
See cases
GPathogenic
LOC129993469, LOC129993470
+455 more
Copy number loss
See cases
GPathogenic
AADAT, ADAM29
+178 more
Copy number loss
See cases
GPathogenic
FLJ38576, FRG1
+339 more
Copy number loss
See cases
GPathogenic
AADAT, ACSL1
+553 more
Copy number gain
See cases
GPathogenic
LOC129993424, LOC129993425
+485 more
Copy number loss
See cases
GPathogenic
AADAT, ACSL1
+399 more
Copy number loss
See cases
GPathogenic
QKILA, RAB33B
+1102 more
Copy number gain
See cases
GPathogenic
SAP30-DT, SCRG1
+401 more
Copy number gain
See cases
GUncertain significance
LOC129993091, LOC129993092
+1068 more
Copy number gain
See cases
GPathogenic
MIR4455, MIR548T
+466 more
Copy number loss
See cases
GPathogenic
LOC129993335, LOC129993336
+1026 more
Copy number gain
See cases
GPathogenic
ACSL1, ADAM29
+330 more
Copy number loss
See cases
GPathogenic
AADAT, ABCE1
+903 more
Copy number gain
See cases
GPathogenic
AGA, AGA-DT
+59 more
Copy number loss
See cases
GPathogenic
ADAM29, AGA
+103 more
Copy number loss
See cases
GPathogenic
ACSL1, ADAM29
+330 more
Copy number loss
See cases
GPathogenic
ACSL1, ADAM29
+369 more
Copy number loss
See cases
GPathogenic
ADAM29, AGA
+85 more
Copy number loss
See cases
GPathogenic
UFSP2, VEGFC
+375 more
Copy number loss
See cases
GPathogenic
LOC129993482, LOC129993483
+509 more
Copy number loss
See cases
GPathogenic
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