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Items: 96

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADGRV1, ALDH7A1
+682 more
Copy number loss
See cases
GPathogenic
LOC129994229, LOC129994230
+688 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACSL6
+1672 more
Copy number loss
See cases
GPathogenic
LOC129994389, LOC129994390
+340 more
Copy number loss
See cases
GPathogenic
LOC129389350, LOC129389351
+377 more
Copy number loss
See cases
GPathogenic
ALDH7A1, AP3S1
+317 more
Copy number loss
See cases
GPathogenic
AP3S1, ARL14EPL
+228 more
Copy number loss
See cases
GPathogenic
LOC129994580, LOC129994581
+336 more
Copy number loss
See cases
GPathogenic
CEP120, CSNK1G3
+55 more
Copy number loss
See cases
GPathogenic
ALDH7A1, CEP120
+105 more
Copy number loss
See cases
GPathogenic
ALDH7A1, CEP120
+86 more
Copy number loss
See cases
GUncertain significance
PRDM6, PRDM6-AS1
(L26F)
Single nucleotide variant
(non-coding transcript variant +1 more)
PRDM6-related disorder
GUncertain significance
PRDM6, PRDM6-AS1
(H29Y)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
PRDM6, PRDM6-AS1
(G33A)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
PRDM6, PRDM6-AS1
(S38G)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GLikely benign
PRDM6, PRDM6-AS1
(A41P)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
PRDM6, PRDM6-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
PRDM6-related disorder
GBenign
PRDM6, PRDM6-AS1
(G42D)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
PRDM6, PRDM6-AS1
(L43P)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GLikely benign
PRDM6, PRDM6-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
PRDM6-related disorder
GBenign
PRDM6, PRDM6-AS1
Microsatellite
(non-coding transcript variant +1 more)
PRDM6-related disorder
GBenign
PRDM6, PRDM6-AS1
Microsatellite
(non-coding transcript variant +1 more)
not provided
GLikely benign
PRDM6, PRDM6-AS1
(P53T)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
PRDM6, PRDM6-AS1
(P53L)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
PRDM6, PRDM6-AS1
(P54L)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
PRDM6, PRDM6-AS1
(P56S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
PRDM6, PRDM6-AS1
(P58fs)
Insertion
(non-coding transcript variant +1 more)
not provided
GBenign
PRDM6, PRDM6-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GLikely benign
PRDM6, PRDM6-AS1
(P58R)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
PRDM6, PRDM6-AS1
(P59S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
PRDM6, PRDM6-AS1
(D67N)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
PRDM6, PRDM6-AS1
(R72L)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
PRDM6, PRDM6-AS1
(L76F)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
PRDM6, PRDM6-AS1
(S78C)
Single nucleotide variant
(non-coding transcript variant +1 more)
Patent ductus arteriosus 3
+1 more
GUncertain significance
PRDM6, PRDM6-AS1
(S80L)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
PRDM6, PRDM6-AS1
(S81T)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
PRDM6, PRDM6-AS1
Microsatellite
(non-coding transcript variant +1 more)
not provided
GLikely benign
PRDM6, PRDM6-AS1
Microsatellite
(non-coding transcript variant +1 more)
not provided
+1 more
GBenign
PRDM6
Single nucleotide variant
(synonymous variant)
PRDM6-related disorder
GLikely benign
PRDM6
(P117S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRDM6
(P134L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRDM6
(G140R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRDM6
(S143C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRDM6
(K149M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRDM6
(G153A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRDM6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PRDM6
(G154D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRDM6
(G155R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRDM6
(G158R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRDM6
(I186M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRDM6
(S193G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRDM6
(R220L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRDM6
(A232T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRDM6
(P234S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRDM6
(P238R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRDM6
(E247D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRDM6
(C263S)
Single nucleotide variant
(missense variant)
Patent ductus arteriosus 3
GPathogenic
PRDM6
(A291T)
Single nucleotide variant
(missense variant)
PRDM6-related disorder
GBenign
PRDM6
(I301V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRDM6
(Q309R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRDM6
(C332R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRDM6
(N336T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRDM6
(S344L)
Single nucleotide variant
(missense variant)
Heart, malformation of
GUncertain significance
PRDM6
Single nucleotide variant
(synonymous variant)
PRDM6-related disorder
GLikely benign
PRDM6
(R349Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
PRDM6
(D353N)
Single nucleotide variant
(missense variant)
PRDM6-related disorder
+1 more
GUncertain significance
PRDM6
(A411T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRDM6
(V419I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
PRDM6
(P425L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRDM6
(I439V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRDM6
(Q462R)
Single nucleotide variant
(missense variant)
Patent ductus arteriosus 3
GPathogenic
PRDM6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PRDM6
(S511P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRDM6
(I548V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRDM6
(R549Q)
Single nucleotide variant
(missense variant)
Patent ductus arteriosus 3
GPathogenic
PRDM6
Single nucleotide variant
(synonymous variant)
PRDM6-related disorder
GLikely benign
PRDM6
(S565T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRDM6
(S588T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PRDM6
(V594G)
Single nucleotide variant
(missense variant)
Patent ductus arteriosus 3
GUncertain significance
AP3S1, APC
+80 more
Copy number loss
not specified
GPathogenic
ALDH7A1, AP3S1
+46 more
Copy number loss
not provided
GPathogenic
CAMK4, CCDC112
+60 more
Copy number loss
not specified
GPathogenic
CEP120, CSNK1G3
+4 more
Copy number gain
not provided
GUncertain significance
ADAMTS19, ADGRV1
+104 more
Copy number gain
not provided
GPathogenic
PRDM6
Copy number loss
not provided
GUncertain significance
C5orf24, C5orf34
+600 more
Deletion
Neurodevelopmental disorder
GUncertain significance
AFAP1L1, AFF4
+385 more
Deletion
Familial adenomatous polyposis 1
+1 more
GPathogenic
CEP120, FTMT
+8 more
Copy number gain
See cases
GUncertain significance
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
CEP120, CSNK1G3
+9 more
Copy number loss
See cases
GUncertain significance
ARL10, ARL14EPL
+511 more
Copy number gain
not provided
GLikely benign
TRIM36, TSLP
+41 more
Copy number loss
See cases
GPathogenic
HRH2, HSD17B4
+520 more
Copy number gain
See cases
GPathogenic
LINC02201, LOC101927357
+6 more
Duplication
Lower urinary tract obstruction, congenital
GUncertain significance
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