U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LMX1B
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
LMX1B
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
LMX1B
Single nucleotide variant
(synonymous variant)
Nail-patella syndrome
+2 more
GLikely benign
LMX1B
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
LMX1B
Single nucleotide variant
(intron variant)
Nail-patella syndrome
+2 more
GLikely benign
LMX1B
Single nucleotide variant
(synonymous variant)
Nail-patella syndrome
+2 more
GBenign/Likely benign
LMX1B
(G117S)
Single nucleotide variant
(missense variant)
Nail-patella syndrome
+2 more
GUncertain significance
LMX1B
(E79D)
Single nucleotide variant
(missense variant)
Nail-patella syndrome
+2 more
GUncertain significance
LMX1B
(V187M)
Single nucleotide variant
(missense variant)
Nail-patella syndrome
+2 more
GUncertain significance
LMX1B
(A394T +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
LMX1B
(E170K)
Single nucleotide variant
(missense variant)
Nail-patella-like renal disease
+2 more
GUncertain significance
LMX1B
Single nucleotide variant
(synonymous variant)
Nail-patella syndrome
+2 more
GBenign/Likely benign
LMX1B
Single nucleotide variant
(synonymous variant)
Nail-patella syndrome
+2 more
GLikely benign
LMX1B
(V331M +1 more)
Single nucleotide variant
(missense variant)
Nail-patella-like renal disease
+2 more
GUncertain significance
LMX1B
(V44M)
Single nucleotide variant
(missense variant)
Nail-patella syndrome
+2 more
GUncertain significance
LMX1B
(R151C)
Single nucleotide variant
(missense variant)
Nail-patella syndrome
+2 more
GUncertain significance
LMX1B
(E155K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
LMX1B
(Q109*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
LMX1B
(A236P)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
LMX1B
(V179M)
Single nucleotide variant
(missense variant)
Nail-patella syndrome
+2 more
GConflicting classifications of pathogenicity
LMX1B
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
LMX1B
Single nucleotide variant
(synonymous variant)
Nail-patella syndrome
+2 more
GBenign/Likely benign
LMX1B
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
LMX1B
(R246P)
Single nucleotide variant
(missense variant)
Nail-patella-like renal disease
+1 more
GPathogenic/Likely pathogenic
LMX1B
Single nucleotide variant
(synonymous variant)
Nail-patella syndrome
+2 more
GBenign/Likely benign
LMX1B
Single nucleotide variant
(synonymous variant)
Nail-patella syndrome
+2 more
GLikely benign
LMX1B
(R246Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
LMX1B
(Q335H +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LMX1B
Single nucleotide variant
(synonymous variant)
Nail-patella syndrome
+3 more
GBenign/Likely benign
LMX1B
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
LMX1B
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
LMX1B
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
LMX1B
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
LMX1B
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
LMX1B
Single nucleotide variant
(intron variant)
Nail-patella syndrome
+3 more
GBenign/Likely benign
Format
Items per page
Sort by
Choose Destination