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Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129935726, LOC129935727
+1665 more
Copy number gain
See cases
GPathogenic
LOC129935966, LOC129935967
+630 more
Copy number gain
See cases
GPathogenic
ARMC9
Single nucleotide variant
(intron variant)
not provided
GBenign
ARMC9
(S9P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ARMC9
(D26H)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ARMC9
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
ARMC9
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
ARMC9
Single nucleotide variant
(intron variant)
not provided
GBenign
ARMC9
(S85F)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ARMC9
Single nucleotide variant
(intron variant)
not provided
GBenign
ARMC9
(R222H)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
ARMC9
Single nucleotide variant
(intron variant)
not provided
GBenign
ARMC9
Single nucleotide variant
(synonymous variant +2 more)
Joubert syndrome 30
+1 more
GPathogenic/Likely pathogenic
ARMC9
Single nucleotide variant
(intron variant)
not provided
GBenign
ARMC9
(R343C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
ARMC9
(R343H +1 more)
Single nucleotide variant
(missense variant +1 more)
Joubert syndrome 30
+1 more
GUncertain significance
ARMC9
Single nucleotide variant
(intron variant)
not provided
GBenign
ARMC9
(L347Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ARMC9
Single nucleotide variant
(intron variant)
not provided
GBenign
ARMC9
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
ARMC9
(A418T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ARMC9
(L465V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ARMC9
(R456H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ARMC9
(Q519H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ARMC9
Single nucleotide variant
(intron variant)
not provided
GBenign
ARMC9
(E573K +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ARMC9
Single nucleotide variant
(intron variant)
not provided
GBenign
ARMC9
Single nucleotide variant
(intron variant)
not provided
GBenign
ARMC9
Single nucleotide variant
(intron variant)
not provided
GBenign
ARMC9
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign
ARMC9
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign
ARMC9
Single nucleotide variant
(intron variant)
not provided
GBenign
ARMC9
(T620I +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
ARMC9
(S709F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARMC9
(K781R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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