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Links from MedGen

Items: 1 to 100 of 790

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LAMB2
(D1135H)
Single nucleotide variant
(missense variant)
Pierson syndrome
GUncertain significance
LAMB2
Deletion
(frameshift variant)
Pierson syndrome
GLikely pathogenic
LAMB2
Single nucleotide variant
(splice donor variant)
Pierson syndrome
GPathogenic
LAMB2
(A1628fs)
Duplication
(frameshift variant)
Pierson syndrome
GLikely pathogenic
LAMB2, LOC129936738
(Q832*)
Single nucleotide variant
(nonsense)
Pierson syndrome
GPathogenic
LAMB2
Single nucleotide variant
(synonymous variant)
Pierson syndrome
+1 more
GLikely benign
LAMB2
Single nucleotide variant
(synonymous variant)
Pierson syndrome
+1 more
GLikely benign
LAMB2
(S701I)
Single nucleotide variant
(missense variant)
Pierson syndrome
+1 more
GUncertain significance
LAMB2
Single nucleotide variant
(intron variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GLikely benign
LAMB2
(L1400fs)
Deletion
(frameshift variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GPathogenic
LAMB2
Single nucleotide variant
(splice donor variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GLikely pathogenic
LAMB2
Single nucleotide variant
(synonymous variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GLikely benign
LAMB2
Single nucleotide variant
(synonymous variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GLikely benign
LAMB2
Deletion
(splice donor variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
Single nucleotide variant
(intron variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GLikely benign
LAMB2
(G1195W)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
Single nucleotide variant
(intron variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GLikely benign
LAMB2
Single nucleotide variant
(synonymous variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GLikely benign
LAMB2
(R384C)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
Single nucleotide variant
(intron variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GLikely benign
LAMB2
Single nucleotide variant
(intron variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GLikely benign
LAMB2
Single nucleotide variant
(synonymous variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GLikely benign
LAMB2
(T1255S)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
(R475Q)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
(K1601I)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
Single nucleotide variant
(synonymous variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
(R95C)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
Deletion
(intron variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GLikely benign
LAMB2
(Q784H)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
Single nucleotide variant
(synonymous variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GLikely benign
LAMB2
(P825S)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
(R1032Q)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+2 more
GUncertain significance
LAMB2
Single nucleotide variant
(intron variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GLikely benign
LAMB2
(C905R)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
Single nucleotide variant
(intron variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GLikely benign
LAMB2
Single nucleotide variant
(synonymous variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GLikely benign
LAMB2
(R390W)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
Single nucleotide variant
(intron variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GLikely benign
LAMB2
(D1404E)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
Single nucleotide variant
(synonymous variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GLikely benign
LAMB2
(R439H)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
(R95S)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
(A1281V)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
(H546L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
LAMB2
(R164C)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
(D261N)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
Single nucleotide variant
(intron variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GLikely benign
LAMB2
(R220H)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
(D261Y)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
(A1556T)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
(Q545P)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
Single nucleotide variant
(synonymous variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GLikely benign
LAMB2
Single nucleotide variant
(synonymous variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GLikely benign
LAMB2
Single nucleotide variant
(synonymous variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GLikely benign
LAMB2
Single nucleotide variant
(intron variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GLikely benign
LAMB2
(V1577I)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
Single nucleotide variant
(synonymous variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GLikely benign
LAMB2
(P187Q)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
Single nucleotide variant
(intron variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2, LOC129936738
Single nucleotide variant
(synonymous variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GLikely benign
LAMB2
(N786S)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
Deletion
(splice donor variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GPathogenic
LAMB2
(K1603fs)
Deletion
(frameshift variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GPathogenic
LAMB2
Single nucleotide variant
(splice donor variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GPathogenic
LAMB2
Single nucleotide variant
(splice acceptor variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GPathogenic
LAMB2
(G1648V)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
(D101G)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
(E1613K)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
(G421D)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
Single nucleotide variant
(intron variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
Single nucleotide variant
(intron variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GLikely benign
LAMB2
Single nucleotide variant
(intron variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GLikely benign
LAMB2
Single nucleotide variant
(synonymous variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GLikely benign
LAMB2
Single nucleotide variant
(synonymous variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GLikely benign
LAMB2
Deletion
(inframe_deletion)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
Single nucleotide variant
(intron variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GLikely benign
LAMB2
Single nucleotide variant
(synonymous variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GLikely benign
LAMB2
(A1142G)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
(M619V)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2, LOC129936738
Single nucleotide variant
(synonymous variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GLikely benign
LAMB2
(G827V)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
Single nucleotide variant
(synonymous variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GLikely benign
LAMB2
(R1365W)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
(Q1585K)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
Single nucleotide variant
(synonymous variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GLikely benign
LAMB2
(S462R)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
Single nucleotide variant
(intron variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
(R1582C)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
(H1018D)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
Single nucleotide variant
(synonymous variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GLikely benign
LAMB2
Single nucleotide variant
(synonymous variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GLikely benign
LAMB2
Single nucleotide variant
(synonymous variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GLikely benign
LAMB2
Single nucleotide variant
(synonymous variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GLikely benign
LAMB2
(I228V)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
Single nucleotide variant
(synonymous variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GLikely benign
LAMB2
(R1455P)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
(D1568N)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
(L1204F)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
LAMB2
Single nucleotide variant
(intron variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GLikely benign
LAMB2
(G810E)
Single nucleotide variant
(missense variant)
LAMB2-related infantile-onset nephrotic syndrome
+1 more
GUncertain significance
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