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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHRNG
(N40fs)
Duplication
(frameshift variant)
Inborn genetic diseases
+2 more
GPathogenic
CHRNG
Single nucleotide variant
(synonymous variant)
Autosomal recessive multiple pterygium syndrome
+2 more
GConflicting classifications of pathogenicity
CHRNG
Single nucleotide variant
(intron variant)
Lethal multiple pterygium syndrome
+3 more
GBenign/Likely benign
CHRNG
Single nucleotide variant
(synonymous variant)
Autosomal recessive multiple pterygium syndrome
+2 more
GConflicting classifications of pathogenicity
CHRNG
(A259T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CHRNG
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
CHRNG
(I305V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CHRNG
Single nucleotide variant
(synonymous variant)
Lethal multiple pterygium syndrome
+3 more
GConflicting classifications of pathogenicity
CHRNG, TIGD1
(P364L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHRNG, TIGD1
(V367A)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
CHRNG, TIGD1
(S372F)
Single nucleotide variant
(missense variant)
CHRNG-related condition
+3 more
GConflicting classifications of pathogenicity
CHRNG, TIGD1
(G461R)
Single nucleotide variant
(missense variant)
Lethal multiple pterygium syndrome
+3 more
GConflicting classifications of pathogenicity
CHRNG, TIGD1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
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