U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 784

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130006222, LOC130006223
+282 more
Copy number loss
See cases
GPathogenic
LOC130006108, LOC130006109
+72 more
Duplication
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
LOC130006097, PACS1
Single nucleotide variant
not provided
GBenign
LOC130006097, PACS1
Single nucleotide variant
not provided
GBenign
LOC130006098, PACS1
Single nucleotide variant
(5 prime UTR variant)
PACS1-related disorder
GLikely benign
LOC130006098, PACS1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
PACS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PACS1
(G15A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
PACS1
(G16C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PACS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PACS1
(G22E)
Single nucleotide variant
(missense variant)
Schuurs-Hoeijmakers syndrome
GUncertain significance
PACS1
(V25G)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PACS1
(A26V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
PACS1
(S28C)
Single nucleotide variant
(missense variant)
PACS1-related disorder
+2 more
GConflicting classifications of pathogenicity
PACS1
Deletion
(inframe deletion)
PACS1-related disorder
GUncertain significance
PACS1
(Q30P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PACS1
Microsatellite
(inframe_insertion)
not specified
+1 more
GConflicting classifications of pathogenicity
PACS1
(P32Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PACS1
Duplication
(inframe_insertion)
not specified
+4 more
GBenign/Likely benign
PACS1
Deletion
(inframe_deletion)
Inborn genetic diseases
GLikely benign
PACS1
Microsatellite
(inframe_insertion)
Inborn genetic diseases
GBenign
PACS1
Microsatellite
(inframe_insertion)
not provided
+1 more
GConflicting classifications of pathogenicity
PACS1
(Q40del)
Microsatellite
(inframe deletion)
PACS1-related disorder
GLikely benign
PACS1
Microsatellite
(inframe_deletion)
Schuurs-Hoeijmakers syndrome
GUncertain significance
PACS1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign
PACS1
(Q35P)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PACS1
(Q36E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PACS1
(Q38P)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PACS1
Deletion
(inframe_deletion)
Inborn genetic diseases
GLikely benign
PACS1
(P42L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PACS1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
PACS1
(T46A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PACS1
(Q52*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
PACS1
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
PACS1
(S57F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC130006099, PACS1
(S69F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GLikely benign
LOC130006099, PACS1
(T72I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
LOC130006099, PACS1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
LOC130006099, PACS1
(T74I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130006099, PACS1
(S75F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC130006099, PACS1
(M76I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC130006099, PACS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC130006099, PACS1
Deletion
(inframe_deletion)
not provided
+1 more
GBenign
LOC130006099, PACS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC130006099, PACS1
(G83V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC130006099, PACS1
(G88S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC130006099, PACS1
(P96S)
Single nucleotide variant
(missense variant)
Schuurs-Hoeijmakers syndrome
GUncertain significance
LOC130006099, PACS1
(Q100*)
Single nucleotide variant
(nonsense)
Schuurs-Hoeijmakers syndrome
GLikely pathogenic
PACS1
(A105G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC130006100, PACS1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
LOC130006100, PACS1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
LOC130006100, PACS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC130006100, PACS1
Single nucleotide variant
(intron variant)
not provided
GBenign
PACS1
Single nucleotide variant
(intron variant)
not provided
GBenign
PACS1
Single nucleotide variant
(intron variant)
not provided
GBenign
PACS1
Single nucleotide variant
(intron variant)
not provided
GBenign
PACS1
Microsatellite
(intron variant)
Schuurs-Hoeijmakers syndrome
GLikely benign
PACS1
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
PACS1
(L123S)
Single nucleotide variant
(missense variant)
Schuurs-Hoeijmakers syndrome
GUncertain significance
PACS1
Single nucleotide variant
(synonymous variant)
Schuurs-Hoeijmakers syndrome
GLikely benign
LOC130006168, LOC130006169
+212 more
Copy number gain
See cases
GPathogenic
PACS1
Single nucleotide variant
(synonymous variant)
Schuurs-Hoeijmakers syndrome
GLikely benign
PACS1
(V129I)
Single nucleotide variant
(missense variant)
Schuurs-Hoeijmakers syndrome
+2 more
GConflicting classifications of pathogenicity
PACS1
(M130V)
Single nucleotide variant
(missense variant)
PACS1-related disorder
GUncertain significance
PACS1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
PACS1
(M134V)
Single nucleotide variant
(missense variant)
Schuurs-Hoeijmakers syndrome
GUncertain significance
PACS1
(M134T)
Single nucleotide variant
(missense variant)
Schuurs-Hoeijmakers syndrome
+1 more
GLikely benign
PACS1
(D135Y)
Single nucleotide variant
(missense variant)
Schuurs-Hoeijmakers syndrome
GUncertain significance
PACS1
(N139I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PACS1
(N139T)
Single nucleotide variant
(missense variant)
Intellectual disability
GLikely benign
PACS1
(V142I)
Single nucleotide variant
(missense variant)
Schuurs-Hoeijmakers syndrome
GBenign
PACS1
Single nucleotide variant
(synonymous variant)
Schuurs-Hoeijmakers syndrome
GLikely benign
PACS1
Single nucleotide variant
(synonymous variant)
Schuurs-Hoeijmakers syndrome
GLikely benign
PACS1
(A144T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PACS1
(L147R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PACS1
Single nucleotide variant
(intron variant)
Schuurs-Hoeijmakers syndrome
GUncertain significance
PACS1
Single nucleotide variant
(intron variant)
Schuurs-Hoeijmakers syndrome
GConflicting classifications of pathogenicity
PACS1
Single nucleotide variant
(intron variant)
Schuurs-Hoeijmakers syndrome
GLikely benign
PACS1
Single nucleotide variant
(intron variant)
Schuurs-Hoeijmakers syndrome
GLikely benign
PACS1
Single nucleotide variant
(intron variant)
Schuurs-Hoeijmakers syndrome
GLikely benign
PACS1
Single nucleotide variant
(intron variant)
not provided
GBenign
PACS1
Single nucleotide variant
(intron variant)
not provided
GBenign
PACS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PACS1
Deletion
(intron variant)
Schuurs-Hoeijmakers syndrome
GLikely benign
PACS1
Single nucleotide variant
(intron variant)
Schuurs-Hoeijmakers syndrome
GLikely benign
PACS1
Single nucleotide variant
(intron variant)
Schuurs-Hoeijmakers syndrome
GLikely benign
PACS1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
PACS1
(L154I)
Single nucleotide variant
(missense variant)
Schuurs-Hoeijmakers syndrome
+2 more
GConflicting classifications of pathogenicity
PACS1
(L154R)
Single nucleotide variant
(missense variant)
Schuurs-Hoeijmakers syndrome
GLikely benign
PACS1
(R155C)
Single nucleotide variant
(missense variant)
Schuurs-Hoeijmakers syndrome
GUncertain significance
PACS1
Single nucleotide variant
(synonymous variant)
Schuurs-Hoeijmakers syndrome
GLikely benign
PACS1
(E158K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PACS1
Single nucleotide variant
(synonymous variant)
Schuurs-Hoeijmakers syndrome
GLikely benign
PACS1
(V160I)
Single nucleotide variant
(missense variant)
Schuurs-Hoeijmakers syndrome
GUncertain significance
PACS1
Single nucleotide variant
(synonymous variant)
Schuurs-Hoeijmakers syndrome
GLikely benign
PACS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PACS1
(S164G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
PACS1
(S164N)
Single nucleotide variant
(missense variant)
PACS1-related disorder
GUncertain significance
PACS1
(S164I)
Single nucleotide variant
(missense variant)
Schuurs-Hoeijmakers syndrome
GUncertain significance
PACS1
(S164R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
Format
Items per page
Sort by
Choose Destination