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Links from MedGen

Items: 40

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PITX1
(R275Q)
Single nucleotide variant
(missense variant)
Clubfoot
GUncertain significance
PITX1
(R141Q)
Single nucleotide variant
(missense variant)
Clubfoot
GUncertain significance
PITX1
(W184S)
Single nucleotide variant
(missense variant)
Clubfoot
GUncertain significance
WAPL
(R668C +1 more)
Single nucleotide variant
(missense variant)
Clubfoot
+5 more
GUncertain significance
PITX1
(S98fs)
Deletion
(frameshift variant)
Clubfoot
GLikely pathogenic
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
GPathogenic
PITX1, PITX1-AS1
(T53M)
Single nucleotide variant
(missense variant)
Clubfoot
GUncertain significance
ATP2B1
(V793L +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental delay
+4 more
GLikely pathogenic
ATP2B1
Single nucleotide variant
(splice donor variant)
Neurodevelopmental delay
+4 more
GLikely pathogenic
PITX1, PITX1-AS1
(A30fs)
Deletion
(frameshift variant)
Clubfoot
GLikely pathogenic
PITX1
(G265S)
Single nucleotide variant
(missense variant)
Clubfoot
+1 more
GBenign
PITX1
(K138N)
Single nucleotide variant
(missense variant)
Clubfoot
GLikely pathogenic
UNC13C
(R95*)
Single nucleotide variant
(nonsense)
Cystic renal dysplasia
+4 more
GUncertain significance
BLTP1
(F231fs)
Deletion
(frameshift variant)
Clubfoot
+2 more
GLikely pathogenic
BLTP1
Single nucleotide variant
(splice donor variant)
Clubfoot
+2 more
GLikely pathogenic
PITX1
(S228I)
Single nucleotide variant
(missense variant)
Clubfoot
GUncertain significance
NSD2
(E1099K)
Single nucleotide variant
(missense variant)
Anemia
+14 more
GConflicting classifications of pathogenicity
PITX1
(Y171*)
Single nucleotide variant
(nonsense)
Clubfoot
+1 more
GConflicting classifications of pathogenicity
KAT6B
(T1738I +7 more)
Single nucleotide variant
(missense variant)
not provided
+9 more
GConflicting classifications of pathogenicity
AARS1
(V685A)
Single nucleotide variant
(missense variant)
Clubfoot
+7 more
GUncertain significance
CC2D2A
Single nucleotide variant
(splice donor variant)
Joubert syndrome 9
+8 more
GPathogenic/Likely pathogenic
PKD1
(Q4004R +1 more)
Single nucleotide variant
(missense variant)
Polycystic kidney disease
+3 more
GUncertain significance
COL5A1
(P968fs)
Deletion
(frameshift variant)
Cutis laxa
+9 more
GLikely pathogenic
PLOD2
(R659* +1 more)
Single nucleotide variant
(nonsense)
Femoral bowing
+10 more
GPathogenic/Likely pathogenic
PLOD2
(G454V)
Single nucleotide variant
(missense variant)
not provided
+9 more
GConflicting classifications of pathogenicity
PITX1
(G299A)
Single nucleotide variant
(missense variant)
Clubfoot
+3 more
GBenign
Complex
Clubfoot
+9 more
GUncertain significance
Translocation
Intellectual disability, mild
+6 more
GPathogenic
PKD1
(R2477C)
Single nucleotide variant
(missense variant)
Narrow chest
+5 more
GConflicting classifications of pathogenicity
BLTP1
(Y519*)
Single nucleotide variant
(nonsense)
Alkuraya-Kucinskas syndrome
GPathogenic
VANGL1
(R175W +1 more)
Single nucleotide variant
(missense variant)
not provided
+18 more
GConflicting classifications of pathogenicity
CC2D2A
Deletion
(splice donor variant)
Joubert syndrome 9
+17 more
GPathogenic
PITX1
(A256fs)
Deletion
(frameshift variant)
Clubfoot
GPathogenic
TRPV4
(R316H +2 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2C
+1 more
GPathogenic/Likely pathogenic
RYR1
(M2423K)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+7 more
GConflicting classifications of pathogenicity
PITX1
(E130K)
Single nucleotide variant
(missense variant)
Clubfoot
GPathogenic
TNFRSF13B
(C104R)
Single nucleotide variant
(missense variant)
Pseudoarthrosis
+23 more
GConflicting classifications of pathogenicity; risk factor
DARS2
Single nucleotide variant
(splice donor variant)
CNS demyelination
+15 more
GPathogenic
DARS2
Indel
(intron variant)
CNS demyelination
+14 more
GPathogenic
INPP5E
(R378C)
Single nucleotide variant
(missense variant)
Pseudoarthrosis
+20 more
GPathogenic/Likely pathogenic
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