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Links from Gene

Items: 1 to 100 of 189

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PUSL1
(L155V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PUSL1
(F229C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PUSL1
(P145L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACAP3, ACTRT2
+60 more
Deletion
Shprintzen-Goldberg syndrome
GUncertain significance
PUSL1
(S291F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PUSL1
(T279M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PUSL1
(L155F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PUSL1
(A135V)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
LOC129929111, PUSL1
(P91S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129929111, PUSL1
(S62T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PUSL1
(P5Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ACAP3, ACTRT2
+76 more
Copy number gain
not specified
GPathogenic
RNF207, RNF223
+108 more
Copy number loss
not specified
GPathogenic
MMP23B, SSU72
+29 more
Copy number gain
not provided
GUncertain significance
MIR551A, PANK4
+58 more
Copy number gain
not provided
GPathogenic
MMEL1, PEX10
+53 more
Copy number gain
not provided
GUncertain significance
TMEM88B, UBE2J2
+38 more
Copy number loss
not provided
GLikely pathogenic
SCNN1D, SDF4
+67 more
Copy number loss
not provided
GPathogenic
ACAP3, ACOT7
+116 more
Copy number loss
not provided
GPathogenic
A2ML1-AS2, A3GALT2
+2151 more
Copy number gain
Trisomy 12p
GPathogenic
LOC129929111, PUSL1
(L78V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PUSL1
(R149C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129929111, PUSL1
(A71P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACAP3, ACTRT2
+79 more
Copy number loss
not provided
GPathogenic
PUSL1
(R36S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PUSL1
(R149H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PUSL1
(M162V)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
PUSL1
(T129S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129929111, PUSL1
(P91R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PUSL1
(L279F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACAP3, AGRN
+65 more
Copy number loss
Chromosome 1p36 deletion syndrome
GPathogenic
PUSL1
(N150K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PUSL1
(S226N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PUSL1
(V40I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129929111, PUSL1
(V57I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PUSL1
(Q318P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PUSL1
(L306P +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PUSL1
(D158Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PUSL1
(G299V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PUSL1
(C315Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129929111, PUSL1
(S63R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PUSL1
(R36C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC129929109, PUSL1
(A30V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PUSL1
(E225K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PUSL1
(E259D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PUSL1
(F224S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PUSL1
(P207S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PUSL1
(G276S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PUSL1
(R141C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACAP3, ANKRD65
+43 more
Copy number gain
not provided
GUncertain significance
ACAP3, B3GALT6
+10 more
Copy number loss
not provided
GUncertain significance
ACAP3, ACOT7
+159 more
Copy number loss
not provided
GPathogenic
ACAP3, ACTRT2
+63 more
Copy number loss
not provided
GPathogenic
ACAP3, AGRN
+60 more
Copy number loss
See cases
GPathogenic
GPR157, H6PD
+124 more
Copy number loss
Chromosome 1p36 deletion syndrome, proximal
GPathogenic
ACAP3, ACTRT2
+76 more
Copy number loss
Chromosome 1p36 deletion syndrome
GPathogenic
TNFRSF18, TNFRSF4
+77 more
Copy number loss
Chromosome 1p36 deletion syndrome
GPathogenic
TMEM240, TMEM88B
+181 more
Deletion
Chromosome 1p36 deletion syndrome
GPathogenic
ACAP3, AURKAIP1
+7 more
Deletion
not provided
GUncertain significance
MIR429, MMEL1
+58 more
Deletion
Left ventricular noncompaction 8
GUncertain significance
AGRN, ANKRD65
+58 more
Deletion
Left ventricular noncompaction 8
GUncertain significance
ATAD3A, ACAP3
+74 more
Deletion
Peroxisome biogenesis disorder, complementation group 7
GPathogenic
DNAJC11, DVL1
+101 more
Copy number loss
Chromosome 1p36 deletion syndrome
GPathogenic
ACAP3, AGRN
+62 more
Copy number loss
not provided
GPathogenic
AJAP1, KAZN
+228 more
Copy number loss
not provided
GPathogenic
PUSL1
(Y231*)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
ACAP3, ACTRT2
+76 more
Copy number loss
not provided
GPathogenic
AGRN, B3GALT6
+19 more
Duplication
not provided
GUncertain significance
TMEM88B, TNFRSF18
+45 more
Copy number loss
not provided
GPathogenic
ACAP3, ACTRT2
+80 more
Copy number loss
not provided
GPathogenic
ATAD3B, ATAD3C
+49 more
Copy number loss
not provided
GPathogenic
ACAP3, AGRN
+50 more
Copy number loss
not provided
GPathogenic
ACAP3, AGRN
+45 more
Copy number loss
not provided
GLikely pathogenic
PUSL1, RER1
+98 more
Copy number loss
Harel-Yoon syndrome
GLikely pathogenic
TMEM88B, TTLL10
+58 more
Deletion
Left ventricular noncompaction 8
GUncertain significance
MMP23B, MRPL20
+46 more
Deletion
Congenital myasthenic syndrome 8
GPathogenic
AGRN, B3GALT6
+16 more
Deletion
Spondyloepimetaphyseal dysplasia with joint laxity
+1 more
GUncertain significance
ACAP3, ACTRT2
+66 more
Copy number gain
See cases
GPathogenic
ACAP3, ACTRT2
+77 more
Copy number loss
not provided
GPathogenic
ACAP3, ACTRT2
+77 more
Copy number loss
not provided
GPathogenic
ACAP3, ACTRT2
+78 more
Copy number loss
not provided
GPathogenic
ACAP3, ACOT7
+98 more
Copy number loss
not provided
GPathogenic
TAS1R3, ATAD3A
+42 more
Copy number loss
not provided
GUncertain significance
CFAP74, TNFRSF4
+50 more
Copy number gain
not provided
GUncertain significance
ACAP3, ANKRD65
+14 more
Copy number loss
not provided
GUncertain significance
TMEM88B, TNFRSF14
+57 more
Deletion
Shprintzen-Goldberg syndrome
GUncertain significance
ACAP3, ACOT7
+148 more
Copy number loss
See cases
GPathogenic
ACAP3, ACOT7
+100 more
Copy number loss
See cases
GPathogenic
ACAP3, ACOT7
+119 more
Deletion
Neurodevelopmental disorder
GPathogenic
ACAP3, AGRN
+25 more
Copy number loss
not provided
GLikely pathogenic
CFAP74, CPTP
+62 more
Copy number loss
Chromosome 1p36 deletion syndrome
GPathogenic
MEGF6, MIB2
+71 more
Copy number loss
Chromosome 1p36 deletion syndrome
GPathogenic
ANKRD65, ARHGEF16
+97 more
Copy number loss
Chromosome 1p36 deletion syndrome
GPathogenic
MRPL20, ATAD3B
+38 more
Copy number loss
not provided
GLikely pathogenic
ACAP3, ACOT7
+98 more
Copy number loss
not provided
GPathogenic
ACAP3, ACTRT2
+76 more
Copy number loss
not provided
GPathogenic
PRKCZ, NADK
+52 more
Copy number loss
not provided
GPathogenic
NOC2L, C1QTNF12
+26 more
Copy number loss
not provided
GPathogenic
ACAP3, AGRN
+68 more
Deletion
Congenital myasthenic syndrome 8
GPathogenic
CCDC27, MIR200B
+79 more
Copy number loss
Primary dilated cardiomyopathy
+2 more
GPathogenic
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