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Links from MedGen

Items: 43

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMCHD1
(T1858A)
Single nucleotide variant
(missense variant)
Arrhinia with choanal atresia and microphthalmia syndrome
GUncertain significance
SMCHD1
Single nucleotide variant
(intron variant)
Arrhinia with choanal atresia and microphthalmia syndrome
+1 more
GLikely benign
SMCHD1
Duplication
(intron variant)
Arrhinia with choanal atresia and microphthalmia syndrome
GBenign
SMCHD1
Deletion
(intron variant)
not provided
+1 more
GBenign
SMCHD1
Duplication
(intron variant)
Arrhinia with choanal atresia and microphthalmia syndrome
+1 more
GBenign
SMCHD1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SMCHD1
Single nucleotide variant
(intron variant)
Arrhinia with choanal atresia and microphthalmia syndrome
+2 more
GBenign
SMCHD1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SMCHD1
(N1439S)
Single nucleotide variant
(missense variant)
Arrhinia with choanal atresia and microphthalmia syndrome
+2 more
GUncertain significance
SMCHD1
(P502A)
Single nucleotide variant
(missense variant)
Arrhinia with choanal atresia and microphthalmia syndrome
GUncertain significance
SMCHD1
(I1608S)
Single nucleotide variant
(missense variant)
Arrhinia with choanal atresia and microphthalmia syndrome
GUncertain significance
SMCHD1
(S991N)
Single nucleotide variant
(missense variant)
Arrhinia with choanal atresia and microphthalmia syndrome
GUncertain significance
SMCHD1
(L1933H)
Single nucleotide variant
(missense variant)
Arrhinia with choanal atresia and microphthalmia syndrome
+1 more
GUncertain significance
SMCHD1
(N524S)
Single nucleotide variant
(missense variant)
Arrhinia with choanal atresia and microphthalmia syndrome
GPathogenic
SMCHD1
(T523K)
Single nucleotide variant
(missense variant)
Arrhinia with choanal atresia and microphthalmia syndrome
GPathogenic
SMCHD1
(E473Q)
Single nucleotide variant
(missense variant)
Arrhinia with choanal atresia and microphthalmia syndrome
GPathogenic
SMCHD1
(D420V)
Single nucleotide variant
(missense variant)
Arrhinia with choanal atresia and microphthalmia syndrome
GPathogenic
SMCHD1
(A242G)
Single nucleotide variant
(missense variant)
Arrhinia with choanal atresia and microphthalmia syndrome
GPathogenic
SMCHD1
(F171V)
Single nucleotide variant
(missense variant)
Arrhinia with choanal atresia and microphthalmia syndrome
GUncertain significance
SMCHD1
(L141F)
Single nucleotide variant
(missense variant)
Arrhinia with choanal atresia and microphthalmia syndrome
GPathogenic
SMCHD1
(N139H)
Single nucleotide variant
(missense variant)
Arrhinia with choanal atresia and microphthalmia syndrome
GPathogenic
SMCHD1
(M129K)
Single nucleotide variant
(missense variant)
Arrhinia with choanal atresia and microphthalmia syndrome
GPathogenic
SMCHD1
(L107P)
Single nucleotide variant
(missense variant)
Arrhinia with choanal atresia and microphthalmia syndrome
GPathogenic
SMCHD1
(S135I)
Single nucleotide variant
(missense variant)
Arrhinia with choanal atresia and microphthalmia syndrome
GPathogenic
SMCHD1
(S135N)
Single nucleotide variant
(missense variant)
SMCHD1-related disorder
GPathogenic
SMCHD1
(S135C)
Single nucleotide variant
(missense variant)
Arrhinia with choanal atresia and microphthalmia syndrome
GPathogenic
SMCHD1
(G137E)
Single nucleotide variant
(missense variant)
Arrhinia with choanal atresia and microphthalmia syndrome
+1 more
GPathogenic
SMCHD1
(E136D)
Single nucleotide variant
(missense variant)
Facioscapulohumeral muscular dystrophy 2
GUncertain significance
SMCHD1
(Q400L)
Single nucleotide variant
(missense variant)
Arrhinia with choanal atresia and microphthalmia syndrome
+2 more
GPathogenic
SMCHD1
(L141F)
Single nucleotide variant
(missense variant)
Arrhinia with choanal atresia and microphthalmia syndrome
GPathogenic
SMCHD1
(H348R)
Single nucleotide variant
(missense variant)
Arrhinia with choanal atresia and microphthalmia syndrome
GPathogenic
SMCHD1
(Q345R)
Single nucleotide variant
(missense variant)
Facioscapulohumeral muscular dystrophy 2
GUncertain significance
SMCHD1
(T1603I)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign/Likely benign
SMCHD1
(R552Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMCHD1
(T1176I)
Single nucleotide variant
(missense variant)
Facioscapulohumeral muscular dystrophy 2
+2 more
GUncertain significance
SMCHD1
(T1176M)
Inversion
(missense variant)
not provided
+2 more
GUncertain significance
SMCHD1
Single nucleotide variant
(intron variant)
Arrhinia with choanal atresia and microphthalmia syndrome
+3 more
GBenign
SMCHD1
Single nucleotide variant
(intron variant)
Arrhinia with choanal atresia and microphthalmia syndrome
+3 more
GBenign
SMCHD1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
SMCHD1
Single nucleotide variant
(synonymous variant)
Arrhinia with choanal atresia and microphthalmia syndrome
+3 more
GBenign
SMCHD1
(V708I)
Single nucleotide variant
(missense variant)
Arrhinia with choanal atresia and microphthalmia syndrome
+3 more
GBenign
SMCHD1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
LOC130062084, SMCHD1
Single nucleotide variant
(synonymous variant)
Arrhinia with choanal atresia and microphthalmia syndrome
+3 more
GBenign
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