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Links from Gene

Items: 1 to 100 of 396

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LZTS1
(S117C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LZTS1
(I540V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LZTS1
(E383K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LZTS1
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
LZTS1
(A276P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LZTS1
(A483T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LZTS1
Duplication
not provided
GUncertain significance
ATP6V1B2, CSGALNACT1
+4 more
Deletion
not provided
GPathogenic
ASAH1, ASAH1-AS1
+10 more
Deletion
not provided
GPathogenic
LZTS1
(S254C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LZTS1
(I8N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAM18, ADAM2
+234 more
Copy number gain
not specified
GPathogenic
AARD, ABRA
+665 more
Copy number gain
not specified
GPathogenic
LZTS1
Single nucleotide variant
(3 prime UTR variant)
LZTS1-related disorder
GBenign
LZTS1
Single nucleotide variant
(5 prime UTR variant)
LZTS1-related disorder
GBenign
LZTS1
Single nucleotide variant
(intron variant)
LZTS1-related disorder
GLikely benign
LZTS1
Single nucleotide variant
(synonymous variant)
LZTS1-related disorder
GLikely benign
LZTS1
(E260K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
(G314S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
(A136V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LZTS1
(V96M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
(V70F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
(G208A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LZTS1
(L463P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
(G175S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LZTS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LZTS1
(H185Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
(P124T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
(S321A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
(R133P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LZTS1
(M225I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
(R556W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LZTS1
(S204G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LZTS1
(R43T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LZTS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LZTS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LZTS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LZTS1
(R559H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LZTS1
(R346Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
Microsatellite
(inframe_insertion)
not provided
GUncertain significance
LZTS1
(G53S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
LZTS1
(L359V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
LZTS1
(P299L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
(R301H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
(R19W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LZTS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LZTS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LZTS1
(K538del)
Deletion
(inframe_deletion)
not provided
GUncertain significance
LZTS1
(A439G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LZTS1
(R456C)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
LZTS1
(P164A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
(C261W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LZTS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LZTS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LZTS1
(T258M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
(A276V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LZTS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LZTS1
(T187A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
(R512W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LZTS1
(R465L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LZTS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LZTS1
(S250L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LZTS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LZTS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LZTS1
(S186I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
(G275D)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
LZTS1
(I596F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
(E430D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
(E537K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
(F493C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
(L581V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
(T198I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LZTS1
(G40R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LZTS1
(Q565E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
(S180C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LZTS1
(Y23H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
(E537Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
(E537del)
Deletion
(inframe_deletion)
not provided
GUncertain significance
LZTS1
(V130M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LZTS1
(E503K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
(S242A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
(G235R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LZTS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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