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Links from MedGen

Items: 43

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP10A, CYFIP1
+26 more
Copy number loss
Prader-Willi syndrome
GPathogenic
MAGEL2
(A1037D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SNHG14, SNRPN
+1 more
Deletion
(intron variant +2 more)
Prader-Willi syndrome
GPathogenic
MAGEL2
(V701fs)
Duplication
(frameshift variant)
Prader-Willi syndrome
GPathogenic
MAGEL2
(W965*)
Single nucleotide variant
(nonsense)
Prader-Willi syndrome
GPathogenic
NDN
(P291T)
Single nucleotide variant
(missense variant)
Prader-Willi syndrome
GUncertain significance
MAGEL2
(A74T)
Single nucleotide variant
(missense variant)
Prader-Willi syndrome
+1 more
GUncertain significance
HERC2
Single nucleotide variant
(synonymous variant)
Developmental delay with autism spectrum disorder and gait instability
+3 more
GLikely benign
MAGEL2
(P664L)
Single nucleotide variant
(missense variant)
Schaaf-Yang syndrome
+2 more
GConflicting classifications of pathogenicity
MAGEL2
(A871F)
Indel
(missense variant)
Schaaf-Yang syndrome
+2 more
GBenign/Likely benign
HERC2
Single nucleotide variant
(intron variant)
Prader-Willi syndrome
GUncertain significance
MAGEL2
(A658T)
Single nucleotide variant
(missense variant)
Schaaf-Yang syndrome
+1 more
GUncertain significance
MAGEL2
(P547L)
Single nucleotide variant
(missense variant)
Prader-Willi syndrome
+1 more
GUncertain significance
HERC2
Single nucleotide variant
(splice acceptor variant)
Prader-Willi syndrome
GPathogenic
HERC2
(R1784H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
HERC2
(S3475F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MAGEL2
Deletion
(inframe_deletion)
not specified
+2 more
GUncertain significance
MAGEL2
(P407L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
NDN
(T158fs)
Duplication
(frameshift variant)
Prader-Willi syndrome
GUncertain significance
MAGEL2
(S1044L)
Single nucleotide variant
(missense variant)
Prader-Willi syndrome
GUncertain significance
HERC2
(I2866M)
Single nucleotide variant
(missense variant)
Prader-Willi syndrome
GUncertain significance
NDN
(Q71R)
Single nucleotide variant
(missense variant)
Prader-Willi syndrome
GUncertain significance
HERC2
(A2671G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
MAGEL2
Microsatellite
(nonsense)
Prader-Willi syndrome
GLikely pathogenic
NPAP1
(D1016Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
NPAP1
(M221I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
HERC2
(R1045C)
Single nucleotide variant
(missense variant)
HERC2-related disorder
+4 more
GBenign/Likely benign
ATP10A, GABRA5
+21 more
Copy number loss
Prader-Willi syndrome
GPathogenic
ATP10A, GABRA5
+22 more
Copy number loss
Angelman syndrome
+1 more
GPathogenic
ATP10A, GABRA5
+22 more
Copy number loss
Angelman syndrome
+1 more
GPathogenic
NIPA1, NIPA2
+27 more
Copy number loss
Prader-Willi syndrome
+1 more
GPathogenic
APBA2, ARHGAP11A
+50 more
Copy number loss
Prader-Willi syndrome
+1 more
GPathogenic
NDN
(R178K)
Single nucleotide variant
(missense variant)
Prader-Willi syndrome
GUncertain significance
HERC2
(R2800H)
Single nucleotide variant
(missense variant)
Developmental delay with autism spectrum disorder and gait instability
+3 more
GUncertain significance
HERC2
(M1792V)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
MAGEL2
(M129V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
MAGEL2
(A320D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
MAGEL2
(A572V)
Single nucleotide variant
(missense variant)
Schaaf-Yang syndrome
+2 more
GUncertain significance
HERC2
(V4538M)
Single nucleotide variant
(missense variant)
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
+3 more
GUncertain significance
ATP10A, GABRA5
+21 more
Deletion
Prader-Willi syndrome
GPathogenic
MAGEL2
(Q638*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+4 more
GPathogenic/Likely pathogenic
MAGEL2
(V692I)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
MAGEL2
(T1006S)
Single nucleotide variant
(missense variant)
Prader-Willi syndrome
+3 more
GBenign/Likely benign
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