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Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHRND
Single nucleotide variant
(synonymous variant +1 more)
Congenital myasthenic syndrome
+2 more
GBenign
CHRND
(A15V)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
CHRND
(N39K)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GBenign
CHRND
(G82S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CHRND
(S166F +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CHRND
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
CHRND
(R243C +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+6 more
GConflicting classifications of pathogenicity
CHRND
(Y269H +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CHRND
(Q288E +3 more)
Single nucleotide variant
(missense variant)
Lethal multiple pterygium syndrome
+3 more
GBenign/Likely benign
CHRND
(P307S +3 more)
Single nucleotide variant
(missense variant)
Lethal multiple pterygium syndrome
+5 more
GConflicting classifications of pathogenicity
CHRND
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CHRND
(T321I +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHRND
(P356S +3 more)
Single nucleotide variant
(missense variant)
Lethal multiple pterygium syndrome
+2 more
GUncertain significance
CHRND
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CHRND
(P369S +3 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
CHRND
Single nucleotide variant
(synonymous variant)
Lethal multiple pterygium syndrome
+1 more
GConflicting classifications of pathogenicity
CHRND
(R376Q +3 more)
Single nucleotide variant
(missense variant)
Lethal multiple pterygium syndrome
+2 more
GConflicting classifications of pathogenicity
CHRND
(R407Q +3 more)
Single nucleotide variant
(missense variant)
Lethal multiple pterygium syndrome
+4 more
GUncertain significance
CHRND
(R467H +3 more)
Single nucleotide variant
(missense variant)
CHRND-related condition
+4 more
GConflicting classifications of pathogenicity
CHRND
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CHRND
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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