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Items: 1 to 100 of 197

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129992561, LOC129992562
+1409 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
AASDH, ADGRL3
+244 more
Copy number gain
See cases
GPathogenic
LOC129389216, LOC129389217
+757 more
Copy number gain
See cases
GPathogenic
AASDH, ADGRL3
+177 more
Copy number gain
See cases
GPathogenic
LOC110120745, LOC129992610
+360 more
Copy number loss
Piebaldism
GPathogenic
LOC129992618, LOC129992619
+143 more
Copy number gain
See cases
GPathogenic
AASDH, ARL9
+136 more
Copy number loss
See cases
GPathogenic
AASDH, ADGRL3
+100 more
Copy number loss
See cases
GPathogenic
LOC129992612, TMEM165
Single nucleotide variant
(genic upstream transcript variant)
not provided
GBenign
LOC129992612, TMEM165
Single nucleotide variant
(genic upstream transcript variant)
not provided
GBenign
LOC129992612, TMEM165
Single nucleotide variant
(genic upstream transcript variant)
not provided
GBenign
LOC129992612, TMEM165
Single nucleotide variant
(genic upstream transcript variant)
not provided
GBenign
LOC129992612, TMEM165
Single nucleotide variant
Congenital disorder of glycosylation
GUncertain significance
LOC129992612, TMEM165
Single nucleotide variant
Congenital disorder of glycosylation
GUncertain significance
TMEM165
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GBenign
TMEM165, LOC129992613
(A3V)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
LOC129992613, TMEM165
Single nucleotide variant
(synonymous variant +1 more)
TMEM165-congenital disorder of glycosylation
+2 more
GLikely benign
LOC129992613, TMEM165
(P6R)
Indel
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
LOC129992613, TMEM165
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign
LOC129992613, TMEM165
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
LOC129992613, TMEM165
Single nucleotide variant
(synonymous variant +1 more)
TMEM165-congenital disorder of glycosylation
GLikely benign
TMEM165, LOC129992613
(S12W)
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
(P14L)
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
(L18M)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
+1 more
GUncertain significance
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
GLikely benign
LOC129992613, TMEM165
(L25P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129992613, TMEM165
(P28A)
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
TMEM165, LOC129992613
Single nucleotide variant
(synonymous variant +1 more)
TMEM165-congenital disorder of glycosylation
+2 more
GBenign/Likely benign
LOC129992613, TMEM165
(A33T)
Single nucleotide variant
(non-coding transcript variant +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
LOC129992613, TMEM165
(R42W)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
LOC129992613, TMEM165
(E45Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129992613, TMEM165
Single nucleotide variant
(synonymous variant +1 more)
TMEM165-congenital disorder of glycosylation
GLikely benign
LOC129992613, TMEM165
(A48V)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
LOC129992613, TMEM165
(Q51*)
Single nucleotide variant
(nonsense +1 more)
not provided
GLikely pathogenic
LOC129992613, TMEM165
(P55A)
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
(Q56E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129992613, TMEM165
(G62V)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
LOC129992613, TMEM165
(E64G)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
LOC129992613, TMEM165
(A66S)
Single nucleotide variant
(missense variant +1 more)
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
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
LOC129992613, 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
GUncertain significance
LOC129992613, TMEM165
Single nucleotide variant
(intron variant)
TMEM165-congenital disorder of glycosylation
GLikely benign
LOC129992613, TMEM165
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC129992613, TMEM165
Single nucleotide variant
(intron variant)
not provided
GBenign
TMEM165
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TMEM165
Single nucleotide variant
(intron variant)
not provided
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
Duplication
(intron variant)
TMEM165-congenital disorder of glycosylation
GBenign
TMEM165
Deletion
(intron variant)
TMEM165-congenital disorder of glycosylation
GBenign
TMEM165
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TMEM165
(T73I)
Single nucleotide variant
(missense 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
(N81S)
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
+1 more
GConflicting classifications of pathogenicity
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
GConflicting classifications of pathogenicity
TMEM165
(R126C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TMEM165
(R126H)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GPathogenic
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
(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
(intron variant)
TMEM165-congenital disorder of glycosylation
GLikely benign
TMEM165
Single nucleotide variant
(intron variant)
TMEM165-related disorder
GLikely benign
TMEM165
Single nucleotide variant
(intron variant)
TMEM165-congenital disorder of glycosylation
+1 more
GConflicting classifications of pathogenicity
TMEM165
Single nucleotide variant
(intron variant)
TMEM165-congenital disorder of glycosylation
GLikely benign
TMEM165
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TMEM165
Microsatellite
(intron variant)
not provided
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
(P155R)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
TMEM165
(V157F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMEM165
Single nucleotide variant
(synonymous variant +1 more)
TMEM165-related disorder
GLikely benign
TMEM165
Single nucleotide variant
(synonymous variant +1 more)
TMEM165-congenital disorder of glycosylation
GLikely benign
TMEM165
(I169T)
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
(R176Q)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
TMEM165
(Q194P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMEM165
(D201G)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
TMEM165
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GLikely benign
TMEM165
Single nucleotide variant
(intron variant)
TMEM165-congenital disorder of glycosylation
GLikely benign
TMEM165
(F204L)
Single nucleotide variant
(missense 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
(non-coding transcript variant +1 more)
TMEM165-congenital disorder of glycosylation
GLikely benign
TMEM165
(T218A)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
TMEM165
(T218M)
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
(S221G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMEM165
(L230F)
Single nucleotide variant
(missense variant +1 more)
TMEM165-congenital disorder of glycosylation
GUncertain significance
TMEM165
(S234P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
TMEM165
(V238L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
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