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Links from MedGen

Items: 1 to 100 of 172

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LPIN1
Copy number loss
Myoglobinuria, acute recurrent, autosomal recessive
GLikely pathogenic
LPIN1
Single nucleotide variant
(intron variant)
Myoglobinuria, acute recurrent, autosomal recessive
GUncertain significance
LPIN1
(Q308fs +6 more)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
LPIN1
(P793R +7 more)
Single nucleotide variant
(missense variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
GUncertain significance
LPIN1
(R65H +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LPIN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GUncertain significance
LPIN1
Single nucleotide variant
(intron variant)
Myoglobinuria, acute recurrent, autosomal recessive
GUncertain significance
LPIN1
Deletion
(intron variant)
Myoglobinuria, acute recurrent, autosomal recessive
+1 more
GLikely benign
LPIN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
LPIN1
(P521H +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
LPIN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
LPIN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
LPIN1
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
LPIN1
(T653M +7 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
LPIN1
(I513M +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
LPIN1
(P373R +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
LPIN1
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
LPIN1
(M211V +3 more)
Single nucleotide variant
(missense variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
+1 more
GUncertain significance
LOC122756382, LPIN1
(D505G +6 more)
Single nucleotide variant
(missense variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
+1 more
GUncertain significance
LPIN1
(N340K +6 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
LOC126806147, LPIN1
(L280V +6 more)
Single nucleotide variant
(missense variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
+1 more
GUncertain significance
LPIN1
(T344I +6 more)
Single nucleotide variant
(missense variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
+2 more
GUncertain significance
LPIN1
(N521Y +6 more)
Single nucleotide variant
(missense variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
+2 more
GUncertain significance
LPIN1
(Y630C +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
LPIN1
(K691R +7 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
LPIN1
(P322A +6 more)
Single nucleotide variant
(missense variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
+1 more
GUncertain significance
LPIN1
(S844L +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
LPIN1
(D131G +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
LPIN1
(A31T +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
LPIN1
(Q486* +6 more)
Single nucleotide variant
(nonsense +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
GPathogenic
LPIN1
(K595N +7 more)
Single nucleotide variant
(missense variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
+2 more
GUncertain significance
LPIN1
(R388Q +6 more)
Single nucleotide variant
(missense variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
+1 more
GUncertain significance
LPIN1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
LPIN1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
LPIN1
(A890V +7 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GUncertain significance
LPIN1
(R390* +6 more)
Single nucleotide variant
(nonsense +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
+1 more
GPathogenic/Likely pathogenic
LPIN1
(T151M +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
LPIN1
(P634L +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
LPIN1
(G704D +7 more)
Single nucleotide variant
(missense variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
GUncertain significance
LPIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
GLikely benign
LPIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
GUncertain significance
LPIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
GUncertain significance
LPIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
GUncertain significance
LPIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
GUncertain significance
LPIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
GBenign
LPIN1
Single nucleotide variant
(intron variant)
Myoglobinuria, acute recurrent, autosomal recessive
+1 more
GUncertain significance
LPIN1
(G618R +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
LPIN1
(T563A +7 more)
Single nucleotide variant
(missense variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
+1 more
GUncertain significance
LPIN1
(R57H +3 more)
Single nucleotide variant
(missense variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
GUncertain significance
LPIN1
Single nucleotide variant
(synonymous variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
+1 more
GConflicting classifications of pathogenicity
LPIN1
Single nucleotide variant
(synonymous variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
+1 more
GConflicting classifications of pathogenicity
LPIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
GLikely benign
LPIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
GUncertain significance
LPIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
GUncertain significance
LPIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
GUncertain significance
LPIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
GUncertain significance
LPIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
GUncertain significance
LPIN1
(A554T +6 more)
Single nucleotide variant
(missense variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
+1 more
GUncertain significance
LPIN1
Single nucleotide variant
(intron variant)
Myoglobinuria, acute recurrent, autosomal recessive
+1 more
GConflicting classifications of pathogenicity
LPIN1
Single nucleotide variant
(synonymous variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
+1 more
GBenign/Likely benign
LOC129933127, LPIN1
Single nucleotide variant
(5 prime UTR variant +2 more)
Myoglobinuria, acute recurrent, autosomal recessive
GUncertain significance
LOC129933127, LPIN1
Single nucleotide variant
(5 prime UTR variant +2 more)
Myoglobinuria, acute recurrent, autosomal recessive
GUncertain significance
LOC129933127, LPIN1
Single nucleotide variant
(5 prime UTR variant +2 more)
Myoglobinuria, acute recurrent, autosomal recessive
GUncertain significance
LPIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
GLikely benign
LPIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
GUncertain significance
LPIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
GUncertain significance
LPIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
GUncertain significance
LPIN1
(S862C +7 more)
Single nucleotide variant
(missense variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
GUncertain significance
LPIN1
(T869S +7 more)
Single nucleotide variant
(missense variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
GUncertain significance
LPIN1
(E805G +7 more)
Single nucleotide variant
(missense variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
+1 more
GConflicting classifications of pathogenicity
LPIN1
Single nucleotide variant
(intron variant)
Myoglobinuria, acute recurrent, autosomal recessive
GUncertain significance
LPIN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC126806147, LPIN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC126806147, LPIN1
(T255K +6 more)
Single nucleotide variant
(missense variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
+1 more
GConflicting classifications of pathogenicity
LPIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
GUncertain significance
LPIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
GUncertain significance
LPIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
GUncertain significance
LPIN1
(T745M +7 more)
Single nucleotide variant
(missense variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
+2 more
GUncertain significance
LPIN1
(D713G +7 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
LPIN1
(G717V +7 more)
Single nucleotide variant
(missense variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
GUncertain significance
LPIN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
LPIN1
(K641M +7 more)
Single nucleotide variant
(missense variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
GUncertain significance
LPIN1
(V658I +7 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
LPIN1
(T205I +3 more)
Single nucleotide variant
(missense variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
GUncertain significance
LPIN1
Single nucleotide variant
(synonymous variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
+1 more
GConflicting classifications of pathogenicity
LPIN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC126806147, LPIN1
(P314fs +6 more)
Deletion
(frameshift variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
GPathogenic/Likely pathogenic
LOC126806147, LPIN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
LPIN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
LPIN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
LPIN1
(R690H +7 more)
Single nucleotide variant
(missense variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
+1 more
GConflicting classifications of pathogenicity
LPIN1
Single nucleotide variant
(intron variant)
Myoglobinuria, acute recurrent, autosomal recessive
+1 more
GLikely benign
LPIN1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
LPIN1
(D840H +7 more)
Single nucleotide variant
(missense variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
GUncertain significance
LPIN1
(G657fs +7 more)
Duplication
(frameshift variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
GLikely pathogenic
LOC122756382, LPIN1
(P426fs +6 more)
Deletion
(frameshift variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
+1 more
GConflicting classifications of pathogenicity
LPIN1
Single nucleotide variant
(splice acceptor variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
+1 more
GUncertain significance
LPIN1
(E13D)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
LPIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
GUncertain significance
LPIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
Myoglobinuria, acute recurrent, autosomal recessive
GBenign
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