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Links from MedGen

Items: 37

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
INSL3
(R64L +1 more)
Single nucleotide variant
(missense variant)
Cryptorchidism
+1 more
GUncertain significance
Familial Mediterranean fever
GPathogenic
INSL3
Single nucleotide variant
(synonymous variant)
Cryptorchidism
+1 more
GBenign
INSL3
(T60A)
Single nucleotide variant
(missense variant)
Cryptorchidism
+1 more
GBenign
CCDC183, LRRC26
+68 more
Copy number loss
Cryptorchidism
+1 more
GPathogenic
AIFM3, ARVCF
+44 more
Copy number gain
Cryptorchidism
+1 more
GPathogenic
RAB3GAP1
Single nucleotide variant
(intron variant)
Cryptorchidism
+17 more
GPathogenic
MFSD2A
(V82del)
Deletion
(inframe_deletion +1 more)
Cryptorchidism
+7 more
GPathogenic
LSM1
Single nucleotide variant
(intron variant)
Triphalangeal thumb
+19 more
GUncertain significance
FGF14
(R116fs +8 more)
Duplication
(frameshift variant)
Cryptorchidism
+17 more
GLikely pathogenic
TMCO1
(R206* +2 more)
Single nucleotide variant
(nonsense +1 more)
Cerebro facio thoracic dysplasia
+20 more
GPathogenic
SZT2
Single nucleotide variant
(splice acceptor variant)
See cases
+8 more
GLikely pathogenic
KAT6B
(T1738I +7 more)
Single nucleotide variant
(missense variant)
not provided
+9 more
GConflicting classifications of pathogenicity
ARID1B, TMEM242
+1 more
Copy number gain
Hypotonia
+7 more
GUncertain significance
SMCHD1
(F171V)
Single nucleotide variant
(missense variant)
Arrhinia with choanal atresia and microphthalmia syndrome
GUncertain significance
NIPBL
Deletion
(nonsense)
Cornelia de Lange syndrome 1
+9 more
GLikely pathogenic
BTD
(G14fs)
Deletion
(frameshift variant)
Biotinidase deficiency
GPathogenic
SZT2
(V1984del +1 more)
Deletion
(inframe_deletion)
not provided
+10 more
GPathogenic/Likely pathogenic
Translocation
Cryptorchidism
+12 more
GPathogenic
Translocation
Cryptorchidism
+13 more
GPathogenic
Inversion
Motor delay
+8 more
GPathogenic
Complex
Growth delay
+14 more
GPathogenic
Translocation
Ventricular septal defect
+10 more
GUncertain significance
Translocation
Nystagmus
+7 more
GUncertain significance
ANKRD11
(E1773*)
Single nucleotide variant
(nonsense)
Hypertelorism
+9 more
GPathogenic
TUBA1A
(V409A +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
NSD1
(W1280* +4 more)
Single nucleotide variant
(nonsense)
Sotos syndrome
+19 more
GPathogenic
MEFV
(R329H +1 more)
Single nucleotide variant
(missense variant)
Familial Mediterranean fever
+13 more
GConflicting classifications of pathogenicity
SOX3
Duplication
(inframe_insertion)
Autism
+28 more
GConflicting classifications of pathogenicity
INSL3
(R73*)
Single nucleotide variant
(synonymous variant +1 more)
Cryptorchidism
GPathogenic
INSL3
(R102H +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
INSL3
(R102C)
Single nucleotide variant
(synonymous variant +1 more)
Cryptorchidism
GPathogenic
INSL3
(P93L +1 more)
Single nucleotide variant
(missense variant)
Cryptorchidism
GPathogenic
INSL3
(N110K +1 more)
Single nucleotide variant
(missense variant)
Cryptorchidism
GPathogenic
ATRX
(R2348* +1 more)
Single nucleotide variant
(nonsense)
not provided
+9 more
GPathogenic
RXFP2
(T222P)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
LOC126862264, MEFV
Single nucleotide variant
(missense variant +1 more)
Familial Mediterranean fever
+24 more
GPathogenic/Likely pathogenic
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