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Links from Gene

Items: 1 to 100 of 108

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPATA16
(L161S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA16
(L537P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA16
(K85Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA16
(M327R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA16
(Q564R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA16
(Q497H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA16
(I436T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA16
(M43I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA16
(V423A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ECT2, NCEH1
+2 more
Copy number gain
not specified
GUncertain significance
ECT2, FNDC3B
+5 more
Copy number gain
not provided
GUncertain significance
MUC20, MUC4
+286 more
Duplication
not provided
GPathogenic
SPATA16
(G134S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA16
(G416C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA16
(I440M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA16
(Y538C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA16
(I440T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA16
(D338H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACTRT3, CLDN11
+25 more
Duplication
Fanconi-Bickel syndrome
GUncertain significance
SPATA16
(E534K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA16
(Y359C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA16
(R94G)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SPATA16
(D76V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA16
(L563I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA16
(E484A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA16
(C152G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA16
(A337V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA16
(T27R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA16
(A486V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPATA16
(R432Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC50, MELTF
+155 more
Copy number gain
Isolated anorectal malformation
GLikely pathogenic
ACTL6A, ACTRT3
+79 more
Copy number gain
not specified
GPathogenic
ECT2, NCEH1
+1 more
Copy number gain
not provided
GUncertain significance
ACTL6A, ACTRT3
+40 more
Copy number gain
not provided
GLikely pathogenic
SPATA16
Single nucleotide variant
(intron variant)
not provided
GBenign
SPATA16, ECT2
Copy number gain
not provided
GUncertain significance
SPATA16
Single nucleotide variant
(5 prime UTR variant)
Globozoospermia
GUncertain significance
SPATA16
Single nucleotide variant
(synonymous variant)
Globozoospermia
GUncertain significance
SPATA16
(G454D)
Single nucleotide variant
(missense variant)
Globozoospermia
GUncertain significance
SPATA16
(S463R)
Single nucleotide variant
(missense variant)
Globozoospermia
GUncertain significance
SPATA16
Single nucleotide variant
(intron variant)
Globozoospermia
GUncertain significance
SPATA16
(I69V)
Single nucleotide variant
(missense variant)
Globozoospermia
+1 more
GUncertain significance
SPATA16
(R84Q)
Single nucleotide variant
(missense variant)
Globozoospermia
+1 more
GUncertain significance
SPATA16
(R136C)
Single nucleotide variant
(missense variant)
Globozoospermia
GUncertain significance
SPATA16
(M526T)
Single nucleotide variant
(missense variant)
Globozoospermia
+1 more
GLikely benign
SPATA16
Single nucleotide variant
(3 prime UTR variant)
Globozoospermia
GUncertain significance
SPATA16
Single nucleotide variant
(3 prime UTR variant)
Globozoospermia
GUncertain significance
SPATA16
Single nucleotide variant
(3 prime UTR variant)
Globozoospermia
GUncertain significance
SPATA16
(M144V)
Single nucleotide variant
(missense variant)
Globozoospermia
GUncertain significance
SPATA16
(H164Y)
Single nucleotide variant
(missense variant)
Globozoospermia
GUncertain significance
SPATA16
Single nucleotide variant
(intron variant)
Globozoospermia
GUncertain significance
SPATA16
(R240Q)
Single nucleotide variant
(missense variant)
Globozoospermia
GUncertain significance
SPATA16
Single nucleotide variant
(synonymous variant)
Globozoospermia
GUncertain significance
SPATA16
Single nucleotide variant
(synonymous variant)
Globozoospermia
GUncertain significance
FXR1, HTR3D
+113 more
Copy number gain
not provided
GPathogenic
SPATA16
(L246F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SPATA16
(H18R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SPATA16
(R569S)
Single nucleotide variant
(missense variant)
not provided
GBenign
SPATA16
Single nucleotide variant
(stop lost)
not provided
GBenign
ECT2, FNDC3B
+5 more
Copy number gain
not provided
GUncertain significance
SPATA16
Single nucleotide variant
(splice acceptor variant)
Globozoospermia
GUncertain significance
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCF3
+198 more
Copy number gain
See cases
GPathogenic
SPATA16
Single nucleotide variant
Spermatogenic Failure
GUncertain significance
SPATA16
Single nucleotide variant
(5 prime UTR variant)
Globozoospermia
GUncertain significance
SPATA16
Single nucleotide variant
(5 prime UTR variant)
Spermatogenic Failure
GUncertain significance
SPATA16
Single nucleotide variant
(5 prime UTR variant)
Globozoospermia
GLikely benign
SPATA16
Single nucleotide variant
(synonymous variant)
Globozoospermia
GUncertain significance
SPATA16
(M31L)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
SPATA16
(A35V)
Single nucleotide variant
(missense variant)
Globozoospermia
+1 more
GUncertain significance
SPATA16
Single nucleotide variant
(synonymous variant)
Globozoospermia
GUncertain significance
SPATA16
(S44T)
Single nucleotide variant
(missense variant)
Globozoospermia
+1 more
GBenign
SPATA16
(N50S)
Single nucleotide variant
(missense variant)
Globozoospermia
+1 more
GBenign/Likely benign
SPATA16
(E78K)
Single nucleotide variant
(missense variant)
Globozoospermia
+1 more
GBenign
SPATA16
(M110L)
Single nucleotide variant
(missense variant)
Globozoospermia
GUncertain significance
SPATA16
(M133V)
Single nucleotide variant
(missense variant)
Globozoospermia
+1 more
GBenign
SPATA16
(M144L)
Single nucleotide variant
(missense variant)
Globozoospermia
GUncertain significance
SPATA16
(G147E)
Single nucleotide variant
(missense variant)
Globozoospermia
+1 more
GBenign
SPATA16
Single nucleotide variant
(synonymous variant)
Globozoospermia
GUncertain significance
SPATA16
Single nucleotide variant
(synonymous variant)
Globozoospermia
GUncertain significance
SPATA16
Single nucleotide variant
(synonymous variant)
Globozoospermia
+1 more
GBenign
SPATA16
Single nucleotide variant
(synonymous variant)
Globozoospermia
+1 more
GBenign
SPATA16
Single nucleotide variant
(synonymous variant)
Globozoospermia
GUncertain significance
SPATA16
Deletion
(intron variant)
Spermatogenic Failure
GUncertain significance
SPATA16
(M291I)
Single nucleotide variant
(missense variant)
Globozoospermia
GUncertain significance
SPATA16
(A332V)
Single nucleotide variant
(missense variant)
Globozoospermia
GUncertain significance
SPATA16
(D373N)
Single nucleotide variant
(missense variant)
Globozoospermia
GUncertain significance
SPATA16
Single nucleotide variant
(synonymous variant)
Globozoospermia
+1 more
GLikely benign
SPATA16
(S442G)
Single nucleotide variant
(missense variant)
Globozoospermia
GUncertain significance
SPATA16
Single nucleotide variant
(synonymous variant)
Globozoospermia
GLikely benign
SPATA16
(Q467H)
Single nucleotide variant
(missense variant)
Globozoospermia
GUncertain significance
SPATA16
Single nucleotide variant
(synonymous variant)
Globozoospermia
GUncertain significance
SPATA16
(A509V)
Single nucleotide variant
(missense variant)
Globozoospermia
+1 more
GLikely benign
AADAC, AADACL2
+220 more
Copy number gain
See cases
GPathogenic
LOC129938260, LOC129938261
+1064 more
Copy number gain
See cases
GPathogenic
LOC112935909, LOC112935910
+35 more
Copy number loss
See cases
GLikely pathogenic
LOC108281160, LOC108281177
+1247 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+627 more
Copy number gain
See cases
GLikely pathogenic
ABCC5, ABCC5-AS1
+1245 more
Copy number gain
See cases
GPathogenic
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