U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 146

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AASDHPPT, ABCG4
+1199 more
Copy number gain
See cases
GPathogenic
BCL9L, BLID
+774 more
Copy number gain
See cases
GPathogenic
LOC130006895, LOC130006896
+355 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+769 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+764 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+764 more
Copy number gain
See cases
GPathogenic
LOC128772366, LOC128772367
+764 more
Copy number gain
See cases
GPathogenic
LOC130006864, LOC130006865
+763 more
Copy number gain
See cases
GPathogenic
LOC130007002, LOC130007003
+499 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+635 more
Copy number gain
See cases
GPathogenic
ABCG4, C2CD2L
+40 more
Copy number gain
See cases
GLikely benign
ABCG4, ACAD8
+608 more
Duplication
Schizophrenia
GLikely pathogenic
NLRX1
Single nucleotide variant
not provided
Gnot provided
NLRX1
Single nucleotide variant
not provided
Gnot provided
NLRX1
Single nucleotide variant
(5 prime UTR variant)
not provided
Gnot provided
NLRX1
Single nucleotide variant
(5 prime UTR variant)
not provided
Gnot provided
NLRX1
Single nucleotide variant
(intron variant)
not provided
Gnot provided
NLRX1
Single nucleotide variant
(intron variant)
not provided
Gnot provided
NLRX1
Single nucleotide variant
(5 prime UTR variant)
not provided
Gnot provided
NLRX1
Single nucleotide variant
(5 prime UTR variant)
not provided
Gnot provided
NLRX1
(R9G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
Single nucleotide variant
(intron variant)
not provided
Gnot provided
NLRX1
Single nucleotide variant
(intron variant)
not provided
Gnot provided
NLRX1
(R26H)
Single nucleotide variant
(missense variant)
not provided
GBenign
NLRX1
(G44E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
Single nucleotide variant
(intron variant)
not provided
Gnot provided
NLRX1
(R65M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
Single nucleotide variant
(intron variant)
not provided
Gnot provided
NLRX1
Single nucleotide variant
(intron variant)
not provided
Gnot provided
NLRX1
Single nucleotide variant
(intron variant)
not provided
Gnot provided
NLRX1
Single nucleotide variant
(intron variant)
not provided
Gnot provided
NLRX1
(R84L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(R92Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(R98C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(T103S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(V111I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(R116H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NLRX1
(L124F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NLRX1
(L141F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(P143A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(R157L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(G166R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(R187W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(R187Q)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
NLRX1
(R219C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(K224Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(T256M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(P265L)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
NLRX1
(V273I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(R277H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NLRX1
(P292A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(I295F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(R305H)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
NLRX1
(Y306H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(I309M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(G311S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(D314V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(L317V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
Single nucleotide variant
(synonymous variant)
not provided
Gnot provided
NLRX1
(Q323H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(S355F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NLRX1
(G391V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(Y434C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(R440C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(K441E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(F444C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(F477L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(P484S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(F490I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NLRX1
Single nucleotide variant
(synonymous variant)
not provided
Gnot provided
NLRX1
(P495L)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
NLRX1
(A496T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(R528C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
Single nucleotide variant
(synonymous variant)
not provided
Gnot provided
NLRX1
(R547W)
Single nucleotide variant
(missense variant)
not provided
GBenign
NLRX1
Single nucleotide variant
(synonymous variant)
not provided
Gnot provided
NLRX1
(R571W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(R571Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(M597T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(A599S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(V604M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(E621K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(F623S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(P624S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(V638L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(F680S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(F681L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(F681I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(R699H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(V715G)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
NLRX1
(R751H)
Single nucleotide variant
(missense variant)
Long QT syndrome
GLikely benign
NLRX1
(R753Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
Single nucleotide variant
(intron variant)
not provided
Gnot provided
NLRX1
Single nucleotide variant
(intron variant)
not provided
Gnot provided
NLRX1
(E801K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(A804G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(T810M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(H811D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
Format
Items per page
Sort by
Choose Destination