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Links from Gene

Items: 53

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DSE, TSPYL1
(A161T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DSE, TSPYL1
(Q252R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DSE, TSPYL1
(E216A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DSE, TSPYL1
(E207K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DSE, LOC129997035
+1 more
(V70I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DSE, TSPYL1
(P49L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DSE, LOC129997035
+1 more
Single nucleotide variant
(synonymous variant +1 more)
TSPYL1-related disorder
GLikely benign
DSE, TSPYL1
Single nucleotide variant
(synonymous variant +1 more)
TSPYL1-related disorder
GLikely benign
DSE, TSPYL1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DSE, TSPYL1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DSE, LOC129997035
+1 more
(M115I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DSE, TSPYL1
(S17I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DSE, TSPYL1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DSE, TSPYL1
(G295S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DSE, TSPYL1
(E201K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TSPYL1, DSE
(G6V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DSE, TSPYL1
(G6R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DSE, TSPYL1
(A214S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DSE, TSPYL1
(D297Y)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DSE, TSPYL1
(D38Y)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DSE, TSPYL1
(Q195H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DSE, LOC129997035
+1 more
(V155L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DSE, TSPYL1
(G52A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DSE, TSPYL1
(T11I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DSE, TSPYL1
(Q189P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DSE, TSPYL1
(Q32E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
DSE, TSPYL1
(E191del)
Deletion
(inframe_deletion +1 more)
not provided
GLikely benign
DSE, TSPYL1
(I356T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
DSE, TSPYL1
(E194*)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
DSE, LOC129997035
+1 more
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
DSE, LOC129997035
+1 more
(I134M)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
DSE, TSPYL1
(P62S)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
DSE, TSPYL1
(A181T)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
DSE, LOC129997035
+1 more
(Q126H)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
DSE, TSPYL1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DSE, LOC129997035
+1 more
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DSE, LOC129997035
+1 more
(A74P)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
DSE, TSPYL1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DSE, TSPYL1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DSE, LOC129997035
+1 more
(G97E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
DSE, TSPYL1
(L307S)
Single nucleotide variant
(missense variant +1 more)
Sudden infant death-dysgenesis of the testes syndrome
GUncertain significance
LOC129997034, TSPYL1
+1 more
Microsatellite
(inframe_indel +2 more)
not provided
+1 more
GBenign
DSE, LOC129997035
+1 more
(A131V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
DSE, LOC129997035
+1 more
(G79fs)
Deletion
(frameshift variant +1 more)
Sudden infant death-dysgenesis of the testes syndrome
GLikely pathogenic
DSE, TSPYL1
(V242fs)
Microsatellite
(frameshift variant +1 more)
Sudden infant death-dysgenesis of the testes syndrome
GPathogenic/Likely pathogenic
DSE, TSPYL1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign/Likely benign
DSE, TSPYL1
(T379A)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GBenign
DSE, TSPYL1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DSE, LOC129997035
+1 more
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
DSE, LOC129997035
+1 more
(I94V)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
DSE, LOC129997035
+1 more
(V86I)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
TSPYL1, DSE
(F366L)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
DSE, LOC129997035
+1 more
(E154fs)
Duplication
(frameshift variant +1 more)
Sudden infant death-dysgenesis of the testes syndrome
GPathogenic
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