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Items: 1 to 100 of 139

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130006930, LOC130006931
+1199 more
Copy number gain
See cases
GPathogenic
ABCG4, ACRV1
+774 more
Copy number gain
See cases
GPathogenic
ABCG4, APOA1
+355 more
Copy number gain
See cases
GPathogenic
MPZL3, MSANTD2
+769 more
Copy number gain
See cases
GPathogenic
LOC129390375, LOC129390376
+764 more
Copy number gain
See cases
GPathogenic
POU2F3, PRDM10
+764 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+764 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+763 more
Copy number gain
See cases
GPathogenic
LOC130006854, LOC130006855
+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
LOC130007028, LOC130007029
+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
(R116H)
Single nucleotide variant
(missense variant)
not provided
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
(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 specified
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
(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
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
(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
NLRX1
(T817M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(R833H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(V842M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NLRX1
(A843V)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
NLRX1
(R860Q)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
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