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Items: 67

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMC1A
(Y12fs)
Deletion
(frameshift variant +1 more)
Developmental and epileptic encephalopathy, 85, with or without midline brain defects
GUncertain significance
SMC1A
(R412Q +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 85, with or without midline brain defects
GUncertain significance
SMC1A
(Y589* +1 more)
Duplication
(nonsense)
Congenital muscular hypertrophy-cerebral syndrome
+1 more
GLikely pathogenic
SMC1A
Single nucleotide variant
(splice donor variant)
Congenital muscular hypertrophy-cerebral syndrome
+1 more
GPathogenic
SMC1A
(E1018K +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular hypertrophy-cerebral syndrome
+1 more
GLikely pathogenic
SMC1A
(E745fs +1 more)
Deletion
(frameshift variant)
Congenital muscular hypertrophy-cerebral syndrome
+1 more
GLikely pathogenic
SMC1A
(S942fs +1 more)
Microsatellite
(frameshift variant)
Congenital muscular hypertrophy-cerebral syndrome
+1 more
GPathogenic
SMC1A
(A177T +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 85, with or without midline brain defects
GUncertain significance
SMC1A
(Q1014* +1 more)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 85, with or without midline brain defects
GLikely pathogenic
SMC1A
(Q257del +1 more)
Microsatellite
(inframe_deletion)
Developmental and epileptic encephalopathy, 85, with or without midline brain defects
GLikely pathogenic
SMC1A
(S1020fs +1 more)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 85, with or without midline brain defects
GPathogenic
SMC1A
(L686fs +1 more)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 85, with or without midline brain defects
GPathogenic
SMC1A
(K351R +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 85, with or without midline brain defects
GUncertain significance
SMC1A
(K670fs +1 more)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 85, with or without midline brain defects
GPathogenic
SMC1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 85, with or without midline brain defects
+1 more
GBenign/Likely benign
SMC1A
Single nucleotide variant
(synonymous variant)
Congenital muscular hypertrophy-cerebral syndrome
+1 more
GLikely benign
SMC1A
Single nucleotide variant
(intron variant)
Congenital muscular hypertrophy-cerebral syndrome
+1 more
GBenign/Likely benign
SMC1A
Single nucleotide variant
(intron variant)
Congenital muscular hypertrophy-cerebral syndrome
+1 more
GLikely benign
SMC1A
Single nucleotide variant
(synonymous variant)
Congenital muscular hypertrophy-cerebral syndrome
+1 more
GLikely benign
SMC1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 85, with or without midline brain defects
+1 more
GBenign/Likely benign
SMC1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 85, with or without midline brain defects
+1 more
GBenign/Likely benign
SMC1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 85, with or without midline brain defects
+1 more
GBenign/Likely benign
SMC1A
(N239S +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular hypertrophy-cerebral syndrome
+1 more
GUncertain significance
SMC1A
(R446Q +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular hypertrophy-cerebral syndrome
+1 more
GUncertain significance
SMC1A
(N593S +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 85, with or without midline brain defects
+1 more
GUncertain significance
SMC1A
(K656del +1 more)
Microsatellite
(inframe_deletion)
Developmental and epileptic encephalopathy, 85, with or without midline brain defects
+1 more
GLikely pathogenic
SMC1A
Single nucleotide variant
(intron variant)
Congenital muscular hypertrophy-cerebral syndrome
+2 more
GUncertain significance
SMC1A
(Q337fs +1 more)
Microsatellite
(frameshift variant)
Developmental and epileptic encephalopathy, 85, with or without midline brain defects
GLikely pathogenic
SMC1A
Single nucleotide variant
(intron variant)
Congenital muscular hypertrophy-cerebral syndrome
+2 more
GBenign/Likely benign
SMC1A
(Q1039* +1 more)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 85, with or without midline brain defects
GLikely pathogenic
SMC1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 85, with or without midline brain defects
+1 more
GLikely benign
SMC1A
Single nucleotide variant
(synonymous variant)
Congenital muscular hypertrophy-cerebral syndrome
+1 more
GLikely benign
SMC1A
Single nucleotide variant
(synonymous variant)
Congenital muscular hypertrophy-cerebral syndrome
+1 more
GLikely benign
SMC1A
Single nucleotide variant
(synonymous variant)
Congenital muscular hypertrophy-cerebral syndrome
+1 more
GLikely benign
SMC1A
Single nucleotide variant
(synonymous variant)
Congenital muscular hypertrophy-cerebral syndrome
+1 more
GLikely benign
SMC1A
(R1027* +1 more)
Single nucleotide variant
(nonsense)
Congenital muscular hypertrophy-cerebral syndrome
+1 more
GPathogenic
SMC1A
(S426fs +1 more)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 85, with or without midline brain defects
GLikely pathogenic
SMC1A
(K776fs +1 more)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 85, with or without midline brain defects
GPathogenic
SMC1A
(R895G +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 85, with or without midline brain defects
GPathogenic
SMC1A
(Q1039* +1 more)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 85, with or without midline brain defects
GPathogenic
SMC1A
(N804fs +1 more)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 85, with or without midline brain defects
GPathogenic
SMC1A
(E733* +1 more)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 85, with or without midline brain defects
GPathogenic
SMC1A
(N766fs +1 more)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 85, with or without midline brain defects
GPathogenic
SMC1A
Single nucleotide variant
(splice donor variant)
Developmental and epileptic encephalopathy, 85, with or without midline brain defects
GPathogenic
SMC1A
(R496C +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular hypertrophy-cerebral syndrome
+2 more
GPathogenic/Likely pathogenic
SMC1A
(L102F +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular hypertrophy-cerebral syndrome
+1 more
GLikely benign
SMC1A
Single nucleotide variant
(intron variant)
Congenital muscular hypertrophy-cerebral syndrome
+1 more
GLikely benign
SMC1A
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
SMC1A
Single nucleotide variant
(synonymous variant)
Congenital muscular hypertrophy-cerebral syndrome
+2 more
GLikely benign
SMC1A
(R658H +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
(A143V +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 85, with or without midline brain defects
+1 more
GUncertain significance
SMC1A
Single nucleotide variant
(synonymous variant)
Congenital muscular hypertrophy-cerebral syndrome
+2 more
GLikely benign
SMC1A
(Q909R +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 85, with or without midline brain defects
+1 more
GUncertain significance
SMC1A
(D1134E +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 85, with or without midline brain defects
+2 more
GUncertain significance
SMC1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 85, with or without midline brain defects
+2 more
GLikely benign
SMC1A
(Q972R +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular hypertrophy-cerebral syndrome
+9 more
GUncertain significance
SMC1A
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
SMC1A
(I1163fs +1 more)
Duplication
(frameshift variant)
Congenital muscular hypertrophy-cerebral syndrome
GPathogenic
SMC1A
(S951fs +1 more)
Deletion
(frameshift variant)
Congenital muscular hypertrophy-cerebral syndrome
+1 more
GPathogenic
SMC1A
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
SMC1A
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
SMC1A
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
SMC1A
Single nucleotide variant
(synonymous variant)
Congenital muscular hypertrophy-cerebral syndrome
+4 more
GBenign/Likely benign
SMC1A
(R1049Q +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular hypertrophy-cerebral syndrome
+2 more
GPathogenic/Likely pathogenic
SMC1A
(R711W +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
SMC1A
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
SMC1A
Single nucleotide variant
(5 prime UTR variant)
not specified
+4 more
GBenign
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