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Links from MedGen

Items: 1 to 100 of 115

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BLK
(A320T +1 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK
(G247R +1 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK
(P386L +1 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK
(I237V +1 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 11
GLikely benign
BLK
(Y394H +1 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
BLK
(A219S +1 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
BLK
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
BLK
Single nucleotide variant
(synonymous variant)
Maturity-onset diabetes of the young type 11
+1 more
GLikely benign
BLK
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
BLK
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
BLK
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
BLK
(T270M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
BLK
(C248F +1 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK
(V216M +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GLikely benign
BLK
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
BLK
Single nucleotide variant
(intron variant)
Systemic lupus erythematosus
+2 more
GBenign
BLK
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
BLK
Single nucleotide variant
(intron variant)
Systemic lupus erythematosus
+2 more
GBenign
BLK
Single nucleotide variant
(intron variant)
Systemic lupus erythematosus
+2 more
GBenign
BLK
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
BLK
Single nucleotide variant
(synonymous variant +1 more)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK
(E471Q +1 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK
Single nucleotide variant
(synonymous variant)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK
(V347M +1 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK, LOC126860303
Single nucleotide variant
(synonymous variant)
Maturity-onset diabetes of the young type 11
GLikely benign
BLK, LOC126860302
Single nucleotide variant
(5 prime UTR variant)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK
Single nucleotide variant
BLK-related disorder
+1 more
GConflicting classifications of pathogenicity
BLK
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK
(L310S +1 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK
(D327V +1 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 11
+1 more
GConflicting classifications of pathogenicity
BLK, LOC126860303
Single nucleotide variant
(splice acceptor variant)
Maturity-onset diabetes of the young type 11
+1 more
GBenign/Likely benign
BLK
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
BLK
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 11
GLikely benign
BLK
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK
(T204I +1 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK
Single nucleotide variant
(synonymous variant)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK
Single nucleotide variant
(intron variant)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK
Single nucleotide variant
(5 prime UTR variant +1 more)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK
Single nucleotide variant
(synonymous variant +1 more)
Maturity-onset diabetes of the young type 11
GLikely benign
BLK
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK
(Q155P +1 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK
(P152L +1 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 11
GLikely benign
BLK
Single nucleotide variant
(intron variant)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK
Single nucleotide variant
(synonymous variant +1 more)
Maturity-onset diabetes of the young type 11
GLikely benign
BLK, LOC126860302
Single nucleotide variant
(5 prime UTR variant)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK, LOC126860302
Single nucleotide variant
(5 prime UTR variant)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
BLK
(H55R)
Single nucleotide variant
(5 prime UTR variant +1 more)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK
(R359C +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
LOC126860303, BLK
(R131W +1 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 11
+2 more
GConflicting classifications of pathogenicity
BLK
(S341A +1 more)
Single nucleotide variant
(missense variant)
Monogenic diabetes
+2 more
GBenign/Likely benign
BLK
(W23R)
Single nucleotide variant
(missense variant +1 more)
Monogenic diabetes
+2 more
GUncertain significance
BLK
(P225L +1 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 11
+1 more
GConflicting classifications of pathogenicity
BLK
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 11
GBenign
BLK
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
BLK
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 11
GBenign
BLK
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign/Likely benign
BLK
Single nucleotide variant
(3 prime UTR variant)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GBenign
BLK
(G451S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
BLK
(R450H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
BLK
Single nucleotide variant
(synonymous variant)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK
(A403V +1 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK
(C374G +1 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK
Single nucleotide variant
(synonymous variant)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK
(R353C +1 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 11
+3 more
GConflicting classifications of pathogenicity
BLK
(A349V +1 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK
(K325T +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
BLK
(R298* +1 more)
Single nucleotide variant
(nonsense)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
BLK
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
BLK
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
BLK
Single nucleotide variant
(synonymous variant)
Maturity-onset diabetes of the young type 11
+2 more
GConflicting classifications of pathogenicity
BLK
Single nucleotide variant
(synonymous variant)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK
(S206C +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
BLK
(P191T +1 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK, LOC126860303
(I142V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
BLK, LOC126860303
Single nucleotide variant
(synonymous variant)
Maturity-onset diabetes of the young type 11
+1 more
GBenign
BLK
(R104I +1 more)
Single nucleotide variant
(missense variant)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK
(R75G +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
BLK
(V63M)
Single nucleotide variant
(5 prime UTR variant +1 more)
Maturity-onset diabetes of the young type 11
+2 more
GConflicting classifications of pathogenicity
BLK
(D59E)
Single nucleotide variant
(5 prime UTR variant +1 more)
Maturity-onset diabetes of the young type 11
+3 more
GBenign/Likely benign
BLK
Single nucleotide variant
(5 prime UTR variant +1 more)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK, LOC126860302
Single nucleotide variant
(5 prime UTR variant)
not provided
+1 more
GBenign
BLK, LOC126860302
Single nucleotide variant
(5 prime UTR variant)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK, LOC126860302
Single nucleotide variant
(5 prime UTR variant)
Maturity-onset diabetes of the young type 11
GBenign
BLK, LOC126860302
Single nucleotide variant
(5 prime UTR variant)
Maturity-onset diabetes of the young type 11
GBenign
BLK, LOC126860302
Single nucleotide variant
(5 prime UTR variant)
Maturity-onset diabetes of the young type 11
GUncertain significance
BLK
Single nucleotide variant
(intron variant)
not specified
+1 more
GLikely benign
BLK, LOC126860303
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
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