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Links from MedGen

Items: 43

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANG, EGILA
+1 more
(R145C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ANG, EGILA
+1 more
(G123E)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 9
GUncertain significance
ANG, EGILA
+1 more
(R75H)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 9
+1 more
GUncertain significance
ANG, EGILA
+1 more
(P21L)
Single nucleotide variant
(missense variant +2 more)
Amyotrophic lateral sclerosis type 9
+1 more
GUncertain significance
ANG, EGILA
+1 more
(P21Q)
Single nucleotide variant
(missense variant +2 more)
Amyotrophic lateral sclerosis type 9
+1 more
GBenign/Likely benign
ANG, EGILA
+1 more
(V13A)
Single nucleotide variant
(missense variant +2 more)
Amyotrophic lateral sclerosis type 9
GUncertain significance
ANG, EGILA
+1 more
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 9
GUncertain significance
ANG, RNASE4
Single nucleotide variant
(5 prime UTR variant)
Amyotrophic lateral sclerosis type 9
GUncertain significance
ANG, EGILA
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Amyotrophic lateral sclerosis type 9
GLikely benign
ANG, EGILA
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Amyotrophic lateral sclerosis type 9
GUncertain significance
ANG
Single nucleotide variant
(5 prime UTR variant)
Amyotrophic lateral sclerosis type 9
GUncertain significance
ANG, EGILA
+1 more
(M1I)
Single nucleotide variant
(missense variant +3 more)
Amyotrophic lateral sclerosis type 10
+3 more
GConflicting classifications of pathogenicity
ANG, EGILA
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Amyotrophic lateral sclerosis type 9
GLikely benign
ANG, EGILA
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Amyotrophic lateral sclerosis type 9
GLikely benign
ANG, EGILA
+1 more
(A122V)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 9
GLikely benign
ANG, EGILA
+1 more
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
ANG, EGILA
+1 more
(K84E)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GBenign
ANG, EGILA
+1 more
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign/Likely benign
RNASE4, ANG
+1 more
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 9
GLikely benign
ANG, LOC130055270
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
Amyotrophic lateral sclerosis type 9
GBenign
ANG, RNASE4
Single nucleotide variant
(5 prime UTR variant)
Amyotrophic lateral sclerosis type 9
GUncertain significance
ANG
Single nucleotide variant
(5 prime UTR variant)
Amyotrophic lateral sclerosis type 9
GBenign
ANG, LOC130055269
Single nucleotide variant
(5 prime UTR variant)
Amyotrophic lateral sclerosis type 9
GBenign
ANG, LOC130055269
Single nucleotide variant
(5 prime UTR variant)
Amyotrophic lateral sclerosis type 9
GUncertain significance
ANG, LOC130055269
Single nucleotide variant
(5 prime UTR variant)
Amyotrophic lateral sclerosis type 9
GBenign
ANG, LOC130055269
Single nucleotide variant
(5 prime UTR variant)
Amyotrophic lateral sclerosis type 9
GBenign
ANG
Single nucleotide variant
(5 prime UTR variant)
Amyotrophic lateral sclerosis type 9
GBenign
ANG
Single nucleotide variant
(5 prime UTR variant)
Amyotrophic lateral sclerosis type 9
GUncertain significance
ANG
Single nucleotide variant
(5 prime UTR variant)
Amyotrophic lateral sclerosis type 9
GBenign
ANG
Single nucleotide variant
(5 prime UTR variant)
Amyotrophic lateral sclerosis type 9
GBenign
ANG
Single nucleotide variant
(5 prime UTR variant)
Amyotrophic lateral sclerosis type 9
GBenign
ANG
Single nucleotide variant
(5 prime UTR variant)
Amyotrophic lateral sclerosis type 9
GUncertain significance
ANG, EGILA
+1 more
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+3 more
GBenign/Likely benign
ANG, EGILA
+1 more
(V137I)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 9
GPathogenic
ANG, EGILA
+1 more
(P136L)
Single nucleotide variant
(missense variant +1 more)
ANG-related disorder
+2 more
GConflicting classifications of pathogenicity
ANG, EGILA
+1 more
(S52N)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 9
GLikely pathogenic
ANG, EGILA
+1 more
(I70V)
Single nucleotide variant
(missense variant +1 more)
ANG-related disorder
+3 more
GConflicting classifications of pathogenicity
ANG, EGILA
+1 more
(K64I)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 9
GPathogenic
ANG, EGILA
+1 more
(C63W)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 9
GPathogenic
ANG, EGILA
+1 more
(R55K)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 9
GPathogenic
ANG, EGILA
+1 more
(K41E)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 9
GPathogenic
ANG, EGILA
+1 more
(K41I)
Single nucleotide variant
(missense variant +1 more)
ANG-related disorder
+3 more
GConflicting classifications of pathogenicity
ANG, EGILA
+1 more
(Q36L)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 9
GPathogenic
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