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Links from MedGen

Items: 1 to 100 of 730

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMC1A
(R901C +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular hypertrophy-cerebral syndrome
+1 more
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
Deletion
(intron variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
Single nucleotide variant
(intron variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
Single nucleotide variant
(intron variant)
Congenital muscular hypertrophy-cerebral syndrome
GBenign
SMC1A
Single nucleotide variant
(intron variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
Single nucleotide variant
(synonymous variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
Single nucleotide variant
(intron variant)
Congenital muscular hypertrophy-cerebral syndrome
GBenign
SMC1A
Single nucleotide variant
(synonymous variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
(M815L +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular hypertrophy-cerebral syndrome
GUncertain significance
SMC1A
(R331W +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular hypertrophy-cerebral syndrome
GBenign
SMC1A
Single nucleotide variant
(intron variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
(D1197N +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular hypertrophy-cerebral syndrome
GUncertain significance
SMC1A
Single nucleotide variant
(intron variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
Single nucleotide variant
(intron variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
Single nucleotide variant
(synonymous variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
Single nucleotide variant
(intron variant)
Congenital muscular hypertrophy-cerebral syndrome
GUncertain significance
MIR6857, SMC1A
Single nucleotide variant
(non-coding transcript variant +1 more)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
Single nucleotide variant
(intron variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
Single nucleotide variant
(intron variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
(I862T +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular hypertrophy-cerebral syndrome
GUncertain significance
SMC1A
Single nucleotide variant
(synonymous variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
Single nucleotide variant
(intron variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
Single nucleotide variant
(intron variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
Single nucleotide variant
(synonymous variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
(R18*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Congenital muscular hypertrophy-cerebral syndrome
GPathogenic
SMC1A
Single nucleotide variant
(synonymous variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
Single nucleotide variant
(synonymous variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
Single nucleotide variant
(synonymous variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
(R1019H +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular hypertrophy-cerebral syndrome
GUncertain significance
SMC1A
(W816* +1 more)
Single nucleotide variant
(nonsense)
Congenital muscular hypertrophy-cerebral syndrome
GPathogenic
SMC1A
(S1124R +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular hypertrophy-cerebral syndrome
GUncertain significance
SMC1A
(D833G +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular hypertrophy-cerebral syndrome
GUncertain significance
SMC1A
Single nucleotide variant
(synonymous variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
(G643* +1 more)
Single nucleotide variant
(nonsense)
Congenital muscular hypertrophy-cerebral syndrome
GPathogenic
SMC1A
Single nucleotide variant
(synonymous variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
(D405N +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular hypertrophy-cerebral syndrome
GUncertain significance
SMC1A
(K854Q +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular hypertrophy-cerebral syndrome
GUncertain significance
SMC1A
Single nucleotide variant
(intron variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
(S1011fs +1 more)
Deletion
(frameshift variant)
Congenital muscular hypertrophy-cerebral syndrome
GPathogenic
SMC1A
(E313D +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular hypertrophy-cerebral syndrome
GBenign
SMC1A
Single nucleotide variant
(synonymous variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
Single nucleotide variant
(intron variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
Deletion
(intron variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
(K247E +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular hypertrophy-cerebral syndrome
GUncertain significance
SMC1A
Single nucleotide variant
(intron variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
Single nucleotide variant
(intron variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
Single nucleotide variant
(synonymous variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
Single nucleotide variant
(synonymous variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
Single nucleotide variant
(intron variant)
Congenital muscular hypertrophy-cerebral syndrome
GUncertain significance
SMC1A
Single nucleotide variant
(intron variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
(C759* +1 more)
Single nucleotide variant
(nonsense)
Congenital muscular hypertrophy-cerebral syndrome
GPathogenic
SMC1A
Single nucleotide variant
(synonymous variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
(K918T +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular hypertrophy-cerebral syndrome
GUncertain significance
SMC1A
(S361R +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular hypertrophy-cerebral syndrome
GUncertain significance
SMC1A
(L1141P +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular hypertrophy-cerebral syndrome
GPathogenic
SMC1A
(A171V +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular hypertrophy-cerebral syndrome
GUncertain significance
SMC1A
(L297fs +1 more)
Microsatellite
(frameshift variant)
Congenital muscular hypertrophy-cerebral syndrome
GPathogenic
SMC1A
Single nucleotide variant
(intron variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
Single nucleotide variant
(synonymous variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
Single nucleotide variant
(splice acceptor variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely pathogenic
SMC1A
Single nucleotide variant
(intron variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
(Q461fs +1 more)
Deletion
(frameshift variant)
Congenital muscular hypertrophy-cerebral syndrome
GPathogenic
SMC1A
Single nucleotide variant
(intron variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
Single nucleotide variant
(synonymous variant)
Congenital muscular hypertrophy-cerebral syndrome
GBenign
SMC1A
(K236R +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular hypertrophy-cerebral syndrome
GUncertain significance
SMC1A
(K267R +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular hypertrophy-cerebral syndrome
GUncertain significance
SMC1A
Single nucleotide variant
(intron variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
(T702I +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular hypertrophy-cerebral syndrome
GUncertain significance
SMC1A
Single nucleotide variant
(synonymous variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
Single nucleotide variant
(intron variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
Single nucleotide variant
(intron variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
Single nucleotide variant
(synonymous variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
(Q1155R +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular hypertrophy-cerebral syndrome
GUncertain significance
SMC1A
(R275Q +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular hypertrophy-cerebral syndrome
GUncertain significance
SMC1A
(S942fs +1 more)
Microsatellite
(frameshift variant)
Congenital muscular hypertrophy-cerebral syndrome
+1 more
GPathogenic
SMC1A
(S949I +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular hypertrophy-cerebral syndrome
GUncertain significance
SMC1A
(D989V +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular hypertrophy-cerebral syndrome
GUncertain significance
SMC1A
Single nucleotide variant
(synonymous variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
(R642fs +1 more)
Deletion
(frameshift variant)
Congenital muscular hypertrophy-cerebral syndrome
GPathogenic
SMC1A
Single nucleotide variant
(synonymous variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
Single nucleotide variant
(synonymous variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
Single nucleotide variant
(synonymous variant)
Congenital muscular hypertrophy-cerebral syndrome
GUncertain significance
SMC1A
Single nucleotide variant
(synonymous variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
(A932T +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular hypertrophy-cerebral syndrome
GUncertain significance
SMC1A
Single nucleotide variant
(synonymous variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
(E281D +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular hypertrophy-cerebral syndrome
GPathogenic
SMC1A
Single nucleotide variant
(intron variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
Single nucleotide variant
(synonymous variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
Single nucleotide variant
(synonymous variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
(E767del +1 more)
Deletion
(inframe_deletion)
Congenital muscular hypertrophy-cerebral syndrome
GUncertain significance
SMC1A
Single nucleotide variant
(intron variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
(A1094T +1 more)
Single nucleotide variant
(missense variant)
Congenital muscular hypertrophy-cerebral syndrome
GUncertain significance
SMC1A
Single nucleotide variant
(intron variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
Single nucleotide variant
(synonymous variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
Single nucleotide variant
(synonymous variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
SMC1A
Single nucleotide variant
(intron variant)
Congenital muscular hypertrophy-cerebral syndrome
GLikely benign
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