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Items: 1 to 100 of 172

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GAL3ST3, GPR152
+282 more
Copy number loss
See cases
GPathogenic
B4GAT1, BRMS1
+72 more
Duplication
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
CATSPER1
Microsatellite
(3 prime UTR variant)
Male infertility
GUncertain significance
CATSPER1
Single nucleotide variant
(3 prime UTR variant)
Spermatogenic failure 7
GUncertain significance
CATSPER1
Single nucleotide variant
(3 prime UTR variant)
Spermatogenic failure 7
GUncertain significance
CATSPER1
Single nucleotide variant
(3 prime UTR variant)
Spermatogenic failure 7
GUncertain significance
CATSPER1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CATSPER1
(I766V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CATSPER1
(D764N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CATSPER1
(V762I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CATSPER1
(R757C)
Single nucleotide variant
(missense variant)
Spermatogenic failure 7
+1 more
GUncertain significance
CATSPER1
(V749M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CATSPER1
Single nucleotide variant
(synonymous variant)
Spermatogenic failure 7
GUncertain significance
CATSPER1
Single nucleotide variant
(intron variant)
Spermatogenic failure 7
GUncertain significance
CATSPER1
Single nucleotide variant
(intron variant)
not provided
GBenign
CATSPER1
(F728S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CATSPER1
(F728C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CATSPER1
(R722Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CATSPER1
(E716K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CATSPER1
Single nucleotide variant
(intron variant)
Spermatogenic failure 7
GUncertain significance
CATSPER1
Single nucleotide variant
(synonymous variant)
Spermatogenic failure 7
GUncertain significance
CATSPER1
(T703M)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CATSPER1
(R692W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CATSPER1
(A691S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CATSPER1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
CATSPER1
Single nucleotide variant
(intron variant)
not provided
GBenign
CATSPER1
Single nucleotide variant
(intron variant)
Spermatogenic failure 7
GUncertain significance
CATSPER1
Single nucleotide variant
(intron variant)
not provided
GBenign
CATSPER1
(L663R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CATSPER1
(L663V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CATSPER1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CATSPER1
(I655V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CATSPER1
(V652I)
Single nucleotide variant
(missense variant)
Spermatogenic failure 7
+1 more
GBenign
CATSPER1
Single nucleotide variant
(synonymous variant)
Spermatogenic failure 7
+1 more
GUncertain significance
CATSPER1
Single nucleotide variant
(synonymous variant)
Spermatogenic failure 7
GUncertain significance
CATSPER1
(R612H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CATSPER1
(R606H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CATSPER1
(R602Q)
Single nucleotide variant
(missense variant)
Spermatogenic failure 7
GUncertain significance
CATSPER1
(A599T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CATSPER1
(L594F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CATSPER1
(I583S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CATSPER1
(P581L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CATSPER1
(L576V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CATSPER1
(G574E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CATSPER1
Single nucleotide variant
(synonymous variant)
CATSPER1-related disorder
GLikely benign
CATSPER1
(R561W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CATSPER1
(R558W)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CATSPER1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
CATSPER1
(L524R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CATSPER1
(V523M)
Single nucleotide variant
(missense variant)
Spermatogenic failure 7
GUncertain significance
CATSPER1
Single nucleotide variant
(intron variant)
Spermatogenic failure 7
+1 more
GConflicting classifications of pathogenicity
CATSPER1
Single nucleotide variant
(intron variant)
CATSPER1-related disorder
GLikely benign
CATSPER1
Single nucleotide variant
(intron variant)
Spermatogenic failure 7
GUncertain significance
CATSPER1
Single nucleotide variant
(intron variant)
Spermatogenic failure 7
GUncertain significance
CATSPER1
Single nucleotide variant
(intron variant)
not provided
GBenign
CATSPER1
Single nucleotide variant
(synonymous variant)
Spermatogenic failure 7
GUncertain significance
CATSPER1
(S505L)
Single nucleotide variant
(missense variant)
Spermatogenic failure 7
+1 more
GUncertain significance
CATSPER1
(L502P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CATSPER1
(E494G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CATSPER1
Single nucleotide variant
(synonymous variant)
Spermatogenic failure 7
+1 more
GBenign/Likely benign
CATSPER1
(I486K)
Single nucleotide variant
(missense variant)
Spermatogenic failure 7
+1 more
GUncertain significance
CATSPER1
(D484Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CATSPER1
(A482G)
Single nucleotide variant
(missense variant)
Spermatogenic failure 7
GUncertain significance
CATSPER1
(A482T)
Single nucleotide variant
(missense variant)
Spermatogenic failure 7
GUncertain significance
CATSPER1
(E471A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CATSPER1
(V462I)
Single nucleotide variant
(missense variant)
Spermatogenic failure 7
GUncertain significance
CATSPER1
(E450V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CATSPER1
(R441P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CATSPER1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CATSPER1
(W424R)
Single nucleotide variant
(missense variant)
Spermatogenic failure 7
GUncertain significance
CATSPER1
(R413C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CATSPER1
Single nucleotide variant
(synonymous variant)
Spermatogenic failure 7
+1 more
GBenign
CATSPER1
Single nucleotide variant
(intron variant)
not provided
GBenign
CATSPER1
Single nucleotide variant
(intron variant)
not provided
GBenign
CATSPER1
Single nucleotide variant
(intron variant)
not provided
GBenign
CATSPER1
Single nucleotide variant
(intron variant)
not provided
GBenign
CATSPER1
(G399R)
Single nucleotide variant
(missense variant)
Spermatogenic failure 7
GUncertain significance
CATSPER1
(G395D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CATSPER1
(W394C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CATSPER1
(W394R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CATSPER1
(R373C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CATSPER1
(R371H)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CATSPER1
Single nucleotide variant
(synonymous variant)
Spermatogenic failure 7
GUncertain significance
CATSPER1
(R357Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CATSPER1
(R357W)
Single nucleotide variant
(missense variant)
Spermatogenic failure 7
GUncertain significance
CATSPER1
(V353I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
CATSPER1
(F349V)
Single nucleotide variant
(missense variant)
Spermatogenic failure 7
GUncertain significance
CATSPER1
(S344F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CATSPER1
(S344A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CATSPER1
(D337N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CATSPER1
(H336P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CATSPER1
Single nucleotide variant
(synonymous variant)
Spermatogenic failure 7
+1 more
GConflicting classifications of pathogenicity
CATSPER1
(R332Q)
Single nucleotide variant
(missense variant)
Spermatogenic failure 7
+1 more
GUncertain significance
CATSPER1
(T330I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CATSPER1
(Q324E)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CATSPER1
(D317fs)
Duplication
(frameshift variant)
Spermatogenic failure 7
GPathogenic
CATSPER1
(G316D)
Single nucleotide variant
(missense variant)
Spermatogenic failure 7
GUncertain significance
CATSPER1
(H315Q)
Single nucleotide variant
(missense variant)
Spermatogenic failure 7
GUncertain significance
CATSPER1
(S311F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CATSPER1
(A308V)
Single nucleotide variant
(missense variant)
CATSPER1-related disorder
GLikely benign
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