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Links from MedGen

Items: 1 to 100 of 113

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMEM165
(A261T)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
TMEM165
Single nucleotide variant
(intron variant)
TMEM165-congenital disorder of glycosylation
GLikely benign
TMEM165
Single nucleotide variant
(intron variant)
TMEM165-congenital disorder of glycosylation
GLikely benign
TMEM165
Single nucleotide variant
(intron variant)
TMEM165-congenital disorder of glycosylation
GLikely benign
TMEM165
(M134I)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
TMEM165
Single nucleotide variant
(synonymous variant +1 more)
TMEM165-congenital disorder of glycosylation
GLikely benign
TMEM165
Single nucleotide variant
(synonymous variant +1 more)
TMEM165-congenital disorder of glycosylation
GLikely benign
TMEM165
Duplication
(intron variant)
TMEM165-congenital disorder of glycosylation
GLikely benign
TMEM165
(T73I)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
TMEM165
Single nucleotide variant
(intron variant)
TMEM165-congenital disorder of glycosylation
GLikely benign
TMEM165
(W249*)
Single nucleotide variant
(nonsense +1 more)
TMEM165-congenital disorder of glycosylation
GPathogenic
LOC129992613, TMEM165
(G62V)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
TMEM165
Single nucleotide variant
(non-coding transcript variant +1 more)
TMEM165-congenital disorder of glycosylation
GLikely benign
TMEM165
Single nucleotide variant
(synonymous variant +1 more)
TMEM165-congenital disorder of glycosylation
GLikely benign
LOC129992613, TMEM165
(A66S)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
AASDH, CEP135
+13 more
Deletion
not provided
GPathogenic
TMEM165
(I258V)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
TMEM165
Single nucleotide variant
(intron variant)
TMEM165-congenital disorder of glycosylation
GLikely benign
LOC129992613, TMEM165
Single nucleotide variant
(synonymous variant +1 more)
TMEM165-congenital disorder of glycosylation
GLikely benign
TMEM165
(R176Q)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
TMEM165
Single nucleotide variant
(synonymous variant +1 more)
TMEM165-congenital disorder of glycosylation
GLikely benign
TMEM165
(A310V)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
TMEM165
(A99T)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
TMEM165
Single nucleotide variant
(synonymous variant +1 more)
TMEM165-congenital disorder of glycosylation
GLikely benign
LOC129992613, TMEM165
Single nucleotide variant
(intron variant)
TMEM165-congenital disorder of glycosylation
GLikely benign
TMEM165
Single nucleotide variant
(non-coding transcript variant +1 more)
TMEM165-congenital disorder of glycosylation
GLikely benign
TMEM165
(P155R)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
TMEM165
Single nucleotide variant
(intron variant)
TMEM165-congenital disorder of glycosylation
GLikely benign
TMEM165
Single nucleotide variant
(synonymous variant +1 more)
TMEM165-congenital disorder of glycosylation
GLikely benign
TMEM165
(M134V)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
TMEM165
Single nucleotide variant
(synonymous variant +1 more)
TMEM165-congenital disorder of glycosylation
GLikely benign
LOC129992613, TMEM165
Single nucleotide variant
(synonymous variant +1 more)
TMEM165-congenital disorder of glycosylation
GLikely benign
LOC129992613, TMEM165
(P6R)
Indel
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
TMEM165
(T242S)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
TMEM165
Single nucleotide variant
(intron variant)
TMEM165-congenital disorder of glycosylation
GLikely benign
TMEM165
Deletion
(inframe_deletion +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
LOC129992613, TMEM165
Single nucleotide variant
(synonymous variant +1 more)
TMEM165-congenital disorder of glycosylation
GLikely benign
TMEM165
Single nucleotide variant
(intron variant)
TMEM165-congenital disorder of glycosylation
GLikely benign
TMEM165
Single nucleotide variant
(intron variant)
TMEM165-congenital disorder of glycosylation
GLikely benign
TMEM165
Single nucleotide variant
(synonymous variant +1 more)
TMEM165-congenital disorder of glycosylation
GLikely benign
TMEM165
Single nucleotide variant
(intron variant)
TMEM165-congenital disorder of glycosylation
GLikely benign
TMEM165
(N81S)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
TMEM165, LOC129992613
(A3V)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
TMEM165
(F204L)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
LOC129992613, TMEM165
(R42W)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
LOC129992613, TMEM165
(R15W)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
LOC129992613, TMEM165
(P55A)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
TMEM165
(V238I)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
TMEM165, LOC129992613
(S12W)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
LOC129992613, TMEM165
(P28A)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
LOC129992613, TMEM165
(A48V)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
TMEM165
Single nucleotide variant
(synonymous variant +1 more)
TMEM165-congenital disorder of glycosylation
GLikely benign
TMEM165
Single nucleotide variant
(intron variant)
TMEM165-congenital disorder of glycosylation
GLikely benign
LOC129992613, TMEM165
Single nucleotide variant
(synonymous variant +1 more)
TMEM165-congenital disorder of glycosylation
GLikely benign
TMEM165, LOC129992613
Single nucleotide variant
(synonymous variant +1 more)
TMEM165-congenital disorder of glycosylation
+2 more
GBenign/Likely benign
TMEM165
Single nucleotide variant
(synonymous variant +1 more)
TMEM165-congenital disorder of glycosylation
GLikely benign
TMEM165
Deletion
(intron variant)
TMEM165-congenital disorder of glycosylation
GBenign
TMEM165
Duplication
(intron variant)
TMEM165-congenital disorder of glycosylation
GBenign
TMEM165
Single nucleotide variant
(intron variant)
TMEM165-congenital disorder of glycosylation
GLikely benign
TMEM165
Single nucleotide variant
(intron variant)
TMEM165-congenital disorder of glycosylation
GLikely benign
TMEM165
Insertion
(splice donor variant)
TMEM165-congenital disorder of glycosylation
GUncertain significance
TMEM165
(T244I)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
LOC129992613, TMEM165
(E64G)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
TMEM165
(T218A)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
SPINK2, SRP72
+18 more
Duplication
TMEM165-congenital disorder of glycosylation
GUncertain significance
TMEM165
(T218M)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
TMEM165
(V271M)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
TMEM165
Single nucleotide variant
(intron variant)
TMEM165-congenital disorder of glycosylation
GUncertain significance
LOC129992613, TMEM165
(P14L)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
LOC129992613, TMEM165
(A33T)
Single nucleotide variant
(non-coding transcript variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
TMEM165
(A76P)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
TMEM165
Single nucleotide variant
(intron variant)
TMEM165-congenital disorder of glycosylation
GUncertain significance
TMEM165
(C278Y)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
TMEM165
(V275A)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
+1 more
GUncertain significance
TMEM165
(L230F)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
TMEM165
(I318V)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
LOC129992613, TMEM165
(P55Q)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
LOC129992613, TMEM165
(P14S)
Single nucleotide variant
(non-coding transcript variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
LOC129992613, TMEM165
Single nucleotide variant
(intron variant)
TMEM165-congenital disorder of glycosylation
GUncertain significance
LOC129992613, TMEM165
(R67W)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
LOC129992613, TMEM165
(V31A)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
LOC129992613, TMEM165
(L18M)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
TMEM165
(V271L)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
TMEM165
Single nucleotide variant
(3 prime UTR variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
TMEM165
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GBenign
TMEM165
Single nucleotide variant
(3 prime UTR variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
TMEM165
(R206Q)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
TMEM165
Single nucleotide variant
(synonymous variant +1 more)
TMEM165-congenital disorder of glycosylation
GConflicting classifications of pathogenicity
TMEM165
Single nucleotide variant
(3 prime UTR variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
TMEM165
Single nucleotide variant
(3 prime UTR variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
TMEM165
Single nucleotide variant
(synonymous variant +1 more)
TMEM165-congenital disorder of glycosylation
GLikely benign
TMEM165
Single nucleotide variant
(synonymous variant +1 more)
TMEM165-congenital disorder of glycosylation
GLikely benign
LOC129992613, TMEM165
Single nucleotide variant
(synonymous variant +1 more)
TMEM165-congenital disorder of glycosylation
GLikely benign
TMEM165
Single nucleotide variant
(synonymous variant +1 more)
TMEM165-related disorder
+1 more
GBenign/Likely benign
LOC129992613, TMEM165
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GLikely benign
LOC129992613, TMEM165
Single nucleotide variant
(synonymous variant +1 more)
TMEM165-congenital disorder of glycosylation
+2 more
GLikely benign
TMEM165
(R298G)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
TMEM165
Microsatellite
(intron variant)
not provided
+1 more
GLikely benign
TMEM165
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GLikely benign
TMEM165
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
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