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Items: 1 to 100 of 123

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD4, ANG
+312 more
Copy number loss
See cases
GPathogenic
LOC130055392, LOC130055393
+780 more
Copy number gain
See cases
GPathogenic
ABHD4, ACIN1
+814 more
Copy number gain
See cases
GPathogenic
OR10G2, OR10G3
+859 more
Copy number gain
See cases
GPathogenic
LOC125048431, LOC125048432
+3280 more
Copy number gain
See cases
GPathogenic
ANG, APEX1
+119 more
Copy number gain
See cases
GPathogenic
FSCB, FUT8
+3275 more
Copy number gain
See cases
GPathogenic
ABHD4, ACIN1
+399 more
Copy number gain
See cases
GPathogenic
LOC112214170, LOC112214171
+840 more
Copy number loss
See cases
GPathogenic
LOC124958010, LOC124958011
+529 more
Copy number gain
See cases
GLikely pathogenic
ANG, ARHGEF40
+108 more
Copy number loss
See cases
GPathogenic
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
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
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
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
Single nucleotide variant
(5 prime UTR variant)
Amyotrophic lateral sclerosis type 9
GBenign
ANG, RNASE4
Single nucleotide variant
(5 prime UTR 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, LOC130055270
+1 more
Single nucleotide variant
(5 prime UTR variant +1 more)
Amyotrophic lateral sclerosis type 9
GBenign
RNASE4, ANG
+1 more
Single nucleotide variant
(intron variant)
Amyotrophic lateral sclerosis type 9
GLikely benign
ANG, RNASE4
Single nucleotide variant
(intron variant)
not provided
GBenign
ANG, RNASE4
Single nucleotide variant
(intron variant)
not provided
GBenign
ANG, RNASE4
Single nucleotide variant
(intron variant)
not provided
GBenign
ANG, RNASE4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ANG, EGILA
+1 more
Single nucleotide variant
(intron 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
(non-coding transcript variant +3 more)
Inborn genetic diseases
GLikely benign
ANG, EGILA
+1 more
Duplication
(inframe_insertion +3 more)
not provided
GUncertain significance
ANG, EGILA
+1 more
(V13A)
Single nucleotide variant
(missense variant +2 more)
Amyotrophic lateral sclerosis type 9
GUncertain significance
ANG, EGILA
+1 more
(L18Q)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
ANG, EGILA
+1 more
(P21S)
Single nucleotide variant
(missense variant +2 more)
ANG-related disorder
+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
(R29G)
Single nucleotide variant
(non-coding transcript variant +3 more)
not provided
GUncertain significance
ANG, EGILA
+1 more
(H32Y)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ANG, EGILA
+1 more
(H32Q)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
ANG, EGILA
+1 more
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign/Likely benign
ANG, EGILA
+1 more
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GLikely benign
ANG, EGILA
+1 more
(Q36L)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 9
GPathogenic
EGILA, RNASE4
+1 more
(H37R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ANG, EGILA
+1 more
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GLikely benign
ANG, EGILA
+1 more
(Y38C)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
ANG, EGILA
+1 more
(A40fs)
Insertion
(non-coding transcript variant +2 more)
not provided
GUncertain significance
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
(Q43H)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
+1 more
GUncertain significance
ANG, EGILA
+1 more
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GBenign/Likely benign
ANG, EGILA
+1 more
(R45W)
Single nucleotide variant
(intron variant +2 more)
not provided
GUncertain significance
ANG, EGILA
+1 more
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GLikely benign
ANG, EGILA
+1 more
(S52N)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 9
GLikely pathogenic
ANG, EGILA
+1 more
(R55K)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 9
GPathogenic
ANG, EGILA
+1 more
(R57Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ANG, EGILA
+1 more
(R57P)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
ANG, EGILA
+1 more
Single nucleotide variant
(non-coding transcript variant +2 more)
ANG-related disorder
GLikely benign
ANG, EGILA
+1 more
(C63W)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 9
GPathogenic
ANG, EGILA
+1 more
(K64I)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 9
GPathogenic
ANG, EGILA
+1 more
(D65N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ANG, EGILA
+1 more
(N67D)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ANG, EGILA
+1 more
(N67S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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
(H71N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ANG, EGILA
+1 more
(R75G)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
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
(K78E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ANG, EGILA
+1 more
(K84E)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GBenign
ANG, EGILA
+1 more
(N85H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ANG, EGILA
+1 more
(G109fs)
Duplication
(frameshift variant +1 more)
Amyotrophic lateral sclerosis
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
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ANG, EGILA
+1 more
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ANG, EGILA
+1 more
(R119Q)
Single nucleotide variant
(missense variant +1 more)
ANG-related disorder
GUncertain significance
ANG, EGILA
+1 more
(R119L)
Single nucleotide variant
(missense variant +1 more)
ANG-related disorder
+1 more
GUncertain significance
ANG, EGILA
+1 more
(A120D)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ANG, EGILA
+1 more
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
ANG, EGILA
+1 more
(A122V)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 9
GLikely benign
ANG, EGILA
+1 more
(G123A)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 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
(F124I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ANG, EGILA
+1 more
(R125K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ANG, EGILA
+1 more
(V127I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
RNASE4, ANG
+1 more
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ANG, EGILA
+1 more
(P136S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
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
(V137I)
Single nucleotide variant
(missense variant +1 more)
Amyotrophic lateral sclerosis type 9
GPathogenic
ANG, EGILA
+1 more
(H138P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ANG, EGILA
+1 more
(D140N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ANG, EGILA
+1 more
(R145C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ANG, EGILA
+1 more
(R145H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ANG, EGILA
+1 more
(R146C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ANG, EGILA
+1 more
Single nucleotide variant
(synonymous 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
GLikely benign
ANG, EGILA
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
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
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