U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from Gene

Items: 52

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMIM13
(R77H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERVFRD-1, SMIM13
(S199L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ERVFRD-1, SMIM13
(F207S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SMIM13
(A76P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERVFRD-1, SMIM13
(L257S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ERVFRD-1, SMIM13
(R191W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ERVFRD-1, SMIM13
(G134V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ERVFRD-1, SMIM13
(R104C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ERVFRD-1, SMIM13
(A70V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADTRP, BLOC1S5
+73 more
Copy number gain
not provided
GPathogenic
ERVFRD-1, SMIM13
(S61L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ERVFRD-1, SMIM13
(I125T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SMIM13
(G86A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMIM13
(A81G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERVFRD-1, SMIM13
(A225V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ERVFRD-1, SMIM13
(I262T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ERVFRD-1, SMIM13
(I269T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ERVFRD-1, SMIM13
(L185W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SMIM13
(S67F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERVFRD-1, SMIM13
(N116S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ERVFRD-1, SMIM13
(W78G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ERVFRD-1, SMIM13
(R234Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ERVFRD-1, SMIM13
(G488V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SMIM13
(L33V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERVFRD-1, SMIM13
(P175S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ERVFRD-1, SMIM13
(A210G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ERVFRD-1, SMIM13
(R18H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADTRP, ATXN1
+89 more
Copy number gain
See cases
GPathogenic
RBM24, RNF182
+35 more
Copy number gain
not specified
GLikely pathogenic
ADTRP, ATXN1
+95 more
Copy number gain
not provided
GPathogenic
BLOC1S5, BMP6
+23 more
Copy number loss
not provided
GPathogenic
ADTRP, ATXN1
+93 more
Copy number gain
not provided
GPathogenic
ADTRP, BLOC1S5
+66 more
Copy number gain
not provided
GPathogenic
ADTRP, ATXN1
+95 more
Duplication
not provided
GPathogenic
AARS2, ABCC10
+1028 more
Copy number gain
See cases
GPathogenic
RING1, RIOK1
+1028 more
Copy number gain
See cases
GPathogenic
STMND1, SYCP2L
+95 more
Copy number gain
See cases
GPathogenic
BLOC1S5, BMP6
+60 more
Copy number loss
See cases
GPathogenic
ADTRP, ATXN1
+51 more
Copy number loss
See cases
GPathogenic
ADTRP, BLOC1S5
+612 more
Copy number loss
See cases
GPathogenic
LOC129995778, LOC129995779
+559 more
Copy number gain
See cases
GLikely pathogenic
ILRUN-AS1, IP6K3
+2582 more
Copy number gain
See cases
GPathogenic
LOC129995681, LOC129995682
+643 more
Copy number gain
See cases
GPathogenic
ADTRP, ATXN1
+617 more
Copy number loss
See cases
GPathogenic
ADTRP, C6orf52
+154 more
Copy number loss
See cases
GPathogenic
SLC35B3, SMIM13
+510 more
Copy number gain
See cases
GLikely pathogenic
ADTRP, ATXN1
+779 more
Copy number gain
See cases
GPathogenic
ABCF1, ABT1
+1340 more
Copy number gain
See cases
GPathogenic
LOC129995677, LOC129995678
+331 more
Copy number loss
See cases
GPathogenic
LOC129995802, LOC129995803
+573 more
Copy number gain
See cases
GPathogenic
ADTRP, BLOC1S5
+537 more
Copy number gain
See cases
GPathogenic
ADTRP, ATXN1
+825 more
Copy number gain
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination