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Items: 84

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ASIC4-AS1, GMPPA
Single nucleotide variant
(intron variant)
Alacrima, achalasia, and intellectual disability syndrome
GLikely benign
GMPPA, ASIC4-AS1
(H40fs)
Deletion
(frameshift variant)
Alacrima, achalasia, and intellectual disability syndrome
GPathogenic
ASIC4-AS1, GMPPA
Single nucleotide variant
(intron variant)
Alacrima, achalasia, and intellectual disability syndrome
GLikely benign
ASIC4-AS1, GMPPA
Single nucleotide variant
(intron variant)
Alacrima, achalasia, and intellectual disability syndrome
GLikely benign
ASIC4-AS1, GMPPA
(R264*)
Single nucleotide variant
(nonsense)
Alacrima, achalasia, and intellectual disability syndrome
+1 more
GPathogenic/Likely pathogenic
ASIC4-AS1, GMPPA
(R134C)
Single nucleotide variant
(missense variant)
Alacrima, achalasia, and intellectual disability syndrome
GUncertain significance
ASIC4-AS1, GMPPA
(G302D)
Single nucleotide variant
(missense variant)
Alacrima, achalasia, and intellectual disability syndrome
GUncertain significance
ASIC4-AS1, GMPPA
(R349C)
Single nucleotide variant
(missense variant)
Alacrima, achalasia, and intellectual disability syndrome
GUncertain significance
ASIC4-AS1, GMPPA
Single nucleotide variant
(synonymous variant)
Alacrima, achalasia, and intellectual disability syndrome
GLikely benign
ASIC4-AS1, GMPPA
Single nucleotide variant
(synonymous variant)
Alacrima, achalasia, and intellectual disability syndrome
GLikely benign
ASIC4-AS1, GMPPA
(P291L)
Single nucleotide variant
(missense variant)
Alacrima, achalasia, and intellectual disability syndrome
GUncertain significance
ASIC4-AS1, GMPPA
(V347M)
Single nucleotide variant
(missense variant)
Alacrima, achalasia, and intellectual disability syndrome
GUncertain significance
ASIC4-AS1, GMPPA
Single nucleotide variant
(synonymous variant)
Alacrima, achalasia, and intellectual disability syndrome
GLikely benign
ASIC4-AS1, GMPPA
(V353M)
Single nucleotide variant
(missense variant)
Alacrima, achalasia, and intellectual disability syndrome
GUncertain significance
ASIC4-AS1, GMPPA
Single nucleotide variant
(synonymous variant)
Alacrima, achalasia, and intellectual disability syndrome
GLikely benign
ASIC4-AS1, GMPPA
(M369V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ASIC4-AS1, GMPPA
Single nucleotide variant
(intron variant)
Alacrima, achalasia, and intellectual disability syndrome
GLikely benign
ASIC4-AS1, GMPPA
(L65F)
Single nucleotide variant
(missense variant)
Alacrima, achalasia, and intellectual disability syndrome
GUncertain significance
ASIC4-AS1, GMPPA
(A367D)
Single nucleotide variant
(missense variant)
Alacrima, achalasia, and intellectual disability syndrome
GUncertain significance
ASIC4-AS1, GMPPA
(R390*)
Single nucleotide variant
(nonsense)
Alacrima, achalasia, and intellectual disability syndrome
GUncertain significance
ASIC4-AS1, GMPPA
Single nucleotide variant
(intron variant)
Alacrima, achalasia, and intellectual disability syndrome
GLikely benign
ASIC4-AS1, GMPPA
(V156A)
Single nucleotide variant
(missense variant)
Alacrima, achalasia, and intellectual disability syndrome
GUncertain significance
ASIC4-AS1, GMPPA
(W214fs)
Duplication
(frameshift variant)
Alacrima, achalasia, and intellectual disability syndrome
+1 more
GPathogenic/Likely pathogenic
ASIC4-AS1, GMPPA
Single nucleotide variant
(intron variant)
Alacrima, achalasia, and intellectual disability syndrome
GLikely benign
ASIC4-AS1, GMPPA
Single nucleotide variant
(synonymous variant)
Alacrima, achalasia, and intellectual disability syndrome
GLikely benign
ASIC4-AS1, GMPPA
Single nucleotide variant
(intron variant)
Alacrima, achalasia, and intellectual disability syndrome
GLikely benign
ASIC4-AS1, GMPPA
Single nucleotide variant
(synonymous variant)
Alacrima, achalasia, and intellectual disability syndrome
GLikely benign
ASIC4-AS1, GMPPA
Single nucleotide variant
(synonymous variant)
Alacrima, achalasia, and intellectual disability syndrome
GLikely benign
ASIC4-AS1, GMPPA
Single nucleotide variant
(intron variant)
Alacrima, achalasia, and intellectual disability syndrome
GBenign
ASIC4-AS1, GMPPA
(A293T)
Single nucleotide variant
(missense variant)
Alacrima, achalasia, and intellectual disability syndrome
GUncertain significance
ASIC4-AS1, GMPPA
Single nucleotide variant
(synonymous variant)
Alacrima, achalasia, and intellectual disability syndrome
GUncertain significance
ASIC4-AS1, GMPPA
(G94C)
Single nucleotide variant
(missense variant)
Alacrima, achalasia, and intellectual disability syndrome
GUncertain significance
ASIC4-AS1, GMPPA
(I179F)
Single nucleotide variant
(missense variant)
Alacrima, achalasia, and intellectual disability syndrome
GUncertain significance
ARPC2, ASIC4
+50 more
Duplication
Paroxysmal nonkinesigenic dyskinesia
+1 more
GUncertain significance
ASIC4-AS1, GMPPA
(A351V)
Single nucleotide variant
(missense variant)
Alacrima, achalasia, and intellectual disability syndrome
GUncertain significance
ASIC4-AS1, GMPPA
(Q84K)
Single nucleotide variant
(missense variant)
Alacrima, achalasia, and intellectual disability syndrome
GUncertain significance
ASIC4-AS1, GMPPA
(S373T)
Single nucleotide variant
(missense variant)
Alacrima, achalasia, and intellectual disability syndrome
GPathogenic
ASIC4-AS1, GMPPA
(E128*)
Single nucleotide variant
(nonsense)
Alacrima, achalasia, and intellectual disability syndrome
GLikely pathogenic
ASIC4-AS1, GMPPA
Single nucleotide variant
(intron variant)
Alacrima, achalasia, and intellectual disability syndrome
+1 more
GBenign
ASIC4-AS1, GMPPA
(R366*)
Single nucleotide variant
(nonsense)
Alacrima, achalasia, and intellectual disability syndrome
GPathogenic/Likely pathogenic
ASIC4-AS1, GMPPA
Single nucleotide variant
(synonymous variant)
Alacrima, achalasia, and intellectual disability syndrome
GLikely benign
ASIC4-AS1, GMPPA
Single nucleotide variant
(synonymous variant)
Alacrima, achalasia, and intellectual disability syndrome
GLikely benign
ASIC4-AS1, GMPPA
(V156I)
Single nucleotide variant
(missense variant)
Alacrima, achalasia, and intellectual disability syndrome
GUncertain significance
ASIC4-AS1, GMPPA
(I384V)
Single nucleotide variant
(missense variant)
Alacrima, achalasia, and intellectual disability syndrome
GUncertain significance
ASIC4-AS1, GMPPA
(D267N)
Single nucleotide variant
(missense variant)
Alacrima, achalasia, and intellectual disability syndrome
GUncertain significance
ASIC4-AS1, GMPPA
(R195W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
GMPPA, ASIC4-AS1
(R320W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ASIC4-AS1, GMPPA
(R349H)
Single nucleotide variant
(missense variant)
Alacrima, achalasia, and intellectual disability syndrome
GUncertain significance
ASIC4-AS1, GMPPA
(T147A)
Single nucleotide variant
(missense variant)
Alacrima, achalasia, and intellectual disability syndrome
GUncertain significance
ASIC4-AS1, GMPPA
(K379N)
Single nucleotide variant
(missense variant)
Alacrima, achalasia, and intellectual disability syndrome
GLikely benign
ASIC4-AS1, GMPPA
(A72T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ASIC4-AS1, GMPPA
Single nucleotide variant
(synonymous variant)
Alacrima, achalasia, and intellectual disability syndrome
GLikely benign
ASIC4-AS1, GMPPA
Deletion
(intron variant)
Alacrima, achalasia, and intellectual disability syndrome
GLikely benign
GMPPA, ASIC4-AS1
Single nucleotide variant
(synonymous variant)
Alacrima, achalasia, and intellectual disability syndrome
+1 more
GBenign/Likely benign
ASIC4-AS1, GMPPA
Single nucleotide variant
(synonymous variant)
Alacrima, achalasia, and intellectual disability syndrome
GLikely benign
ASIC4-AS1, GMPPA
Single nucleotide variant
(synonymous variant)
Alacrima, achalasia, and intellectual disability syndrome
GLikely benign
ASIC4-AS1, GMPPA
Single nucleotide variant
(intron variant)
Alacrima, achalasia, and intellectual disability syndrome
+1 more
GLikely benign
ASIC4-AS1, GMPPA
(M36I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ASIC4-AS1, GMPPA
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
ASIC4-AS1, GMPPA
Single nucleotide variant
(synonymous variant)
Alacrima, achalasia, and intellectual disability syndrome
+1 more
GLikely benign
ASIC4-AS1, GMPPA
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GLikely benign
GMPPA, ASIC4-AS1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
ASIC4-AS1, GMPPA
(F198L)
Single nucleotide variant
(missense variant)
Alacrima, achalasia, and intellectual disability syndrome
+1 more
GUncertain significance
ASIC4-AS1, GMPPA
Single nucleotide variant
(splice donor variant)
Alacrima, achalasia, and intellectual disability syndrome
GPathogenic
ASIC4-AS1, GMPPA
Single nucleotide variant
(intron variant)
Alacrima, achalasia, and intellectual disability syndrome
+1 more
GLikely benign
ASIC4-AS1, GMPPA
Single nucleotide variant
(synonymous variant)
Alacrima, achalasia, and intellectual disability syndrome
+1 more
GLikely benign
ASIC4-AS1, GMPPA
(P64S)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
ASIC4-AS1, GMPPA
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
ASIC4-AS1, GMPPA
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
ASIC4-AS1, GMPPA
Single nucleotide variant
(intron variant)
Alacrima, achalasia, and intellectual disability syndrome
+1 more
GLikely benign
ASIC4-AS1, GMPPA
Single nucleotide variant
(synonymous variant)
Alacrima, achalasia, and intellectual disability syndrome
+1 more
GLikely benign
ASIC4-AS1, GMPPA
Single nucleotide variant
(intron variant)
Alacrima, achalasia, and intellectual disability syndrome
+2 more
GBenign/Likely benign
ASIC4-AS1, GMPPA
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
ASIC4-AS1, GMPPA
Single nucleotide variant
(synonymous variant)
Alacrima, achalasia, and intellectual disability syndrome
+1 more
GBenign/Likely benign
ASIC4-AS1, GMPPA
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
ASIC4-AS1, GMPPA
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
ASIC4-AS1, GMPPA
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
ASIC4-AS1, GMPPA
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
ASIC4-AS1, GMPPA
(H162Q)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
ASIC4-AS1, GMPPA
Single nucleotide variant
(nonsense)
Alacrima, achalasia, and intellectual disability syndrome
GPathogenic
ASIC4-AS1, GMPPA
(A71fs)
Deletion
(frameshift variant)
Global developmental delay
+2 more
GPathogenic
ASIC4-AS1, GMPPA
(G182D)
Single nucleotide variant
(missense variant)
Alacrima, achalasia, and intellectual disability syndrome
GPathogenic
ASIC4-AS1, GMPPA
(T334P)
Single nucleotide variant
(missense variant)
Alacrima, achalasia, and intellectual disability syndrome
GPathogenic
GMPPA, ASIC4-AS1
(R99*)
Single nucleotide variant
(nonsense)
Alacrima, achalasia, and intellectual disability syndrome
GPathogenic
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