U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 128

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
INPP1, ITGA4
+1097 more
Copy number gain
See cases
GPathogenic
LOC129935343, LOC129935344
+1703 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1687 more
Copy number gain
See cases
GPathogenic
LOC129935726, LOC129935727
+1665 more
Copy number gain
See cases
GPathogenic
LOC129935713, LOC129935714
+1299 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1148 more
Copy number gain
See cases
GPathogenic
LOC110120629, LOC110120691
+986 more
Copy number gain
See cases
GPathogenic
ABCB6, ANKZF1
+77 more
Copy number gain
See cases
GUncertain significance
ABCB6, ACSL3
+195 more
Copy number loss
See cases
GPathogenic
STK16, TUBA4A
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
TUBA4A
(D423N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBA4A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TUBA4A
Single nucleotide variant
(synonymous variant)
TUBA4A-related disorder
GLikely benign
TUBA4A
(E405K +1 more)
Single nucleotide variant
(missense variant)
TUBA4A-related disorder
GUncertain significance
TUBA4A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TUBA4A
Single nucleotide variant
(synonymous variant)
TUBA4A-related disorder
GLikely benign
TUBA4A
(E400K +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
TUBA4A
Single nucleotide variant
(synonymous variant)
TUBA4A-related disorder
GLikely benign
TUBA4A
Single nucleotide variant
(synonymous variant)
TUBA4A-related disorder
GLikely benign
TUBA4A
(W392* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
TUBA4A
(W407* +1 more)
Single nucleotide variant
(nonsense)
Amyotrophic lateral sclerosis type 22
GPathogenic
TUBA4A
(V390G +1 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis
GUncertain significance
TUBA4A
Single nucleotide variant
(synonymous variant)
TUBA4A-related disorder
GLikely benign
TUBA4A
(R375H +1 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 22
GUncertain significance
TUBA4A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TUBA4A
(A383T +1 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 22
GLikely pathogenic
TUBA4A
Single nucleotide variant
(synonymous variant)
TUBA4A-related disorder
GLikely benign
TUBA4A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TUBA4A
Single nucleotide variant
(synonymous variant)
TUBA4A-related disorder
GLikely benign
TUBA4A
Single nucleotide variant
(synonymous variant)
TUBA4A-related disorder
GLikely benign
TUBA4A
Single nucleotide variant
(synonymous variant)
TUBA4A-related disorder
GLikely benign
TUBA4A
Single nucleotide variant
(synonymous variant)
TUBA4A-related disorder
GLikely benign
TUBA4A
(K337fs +1 more)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
TUBA4A
Single nucleotide variant
(synonymous variant)
TUBA4A-related disorder
GLikely benign
TUBA4A
(Q327R +1 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 22
GUncertain significance
TUBA4A
Single nucleotide variant
(synonymous variant)
TUBA4A-related disorder
GLikely benign
TUBA4A
Single nucleotide variant
(synonymous variant)
TUBA4A-related disorder
GLikely benign
TUBA4A
(R324C +1 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 22
GUncertain significance
TUBA4A
(A319T +1 more)
Single nucleotide variant
(missense variant)
TUBA4A-related disorder
GUncertain significance
TUBA4A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TUBA4A
(I317fs +1 more)
Indel
(frameshift variant)
not provided
GLikely pathogenic
TUBA4A
Single nucleotide variant
(synonymous variant)
TUBA4A-related disorder
GLikely benign
TUBA4A
Single nucleotide variant
(synonymous variant)
TUBA4A-related disorder
GLikely benign
TUBA4A
Single nucleotide variant
(synonymous variant)
TUBA4A-related disorder
GLikely benign
TUBA4A
(V309M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBA4A
Single nucleotide variant
(synonymous variant)
TUBA4A-related disorder
GLikely benign
TUBA4A
Single nucleotide variant
(synonymous variant)
TUBA4A-related disorder
GLikely benign
TUBA4A
(R320H +1 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 22
GPathogenic
TUBA4A
(R320C +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
TUBA4A
Single nucleotide variant
(synonymous variant)
TUBA4A-related disorder
GLikely benign
TUBA4A
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
TUBA4A
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
TUBA4A
Single nucleotide variant
(synonymous variant)
TUBA4A-related disorder
GLikely benign
TUBA4A
Single nucleotide variant
(synonymous variant)
TUBA4A-related disorder
GLikely benign
TUBA4A
Single nucleotide variant
(synonymous variant)
TUBA4A-related disorder
GLikely benign
TUBA4A
(A266V +1 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 22
GUncertain significance
TUBA4A
(Y247* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
TUBA4A
(E239fs +1 more)
Microsatellite
(frameshift variant)
not provided
GLikely pathogenic
TUBA4A
(R228S +1 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 22
GUncertain significance
TUBA4A
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
TUBA4A
(N201K +1 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 10
GUncertain significance
TUBA4A
(R215S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
TUBA4A
(R215C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBA4A
Single nucleotide variant
(synonymous variant)
TUBA4A-related disorder
GLikely benign
TUBA4A
Single nucleotide variant
(synonymous variant)
TUBA4A-related disorder
GLikely benign
TUBA4A
(E168K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBA4A
(E168Q +1 more)
Single nucleotide variant
(missense variant)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
TUBA4A
(V166M +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBA4A
(V166M +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TUBA4A
Single nucleotide variant
(synonymous variant)
TUBA4A-related disorder
GLikely benign
TUBA4A
(T145P +1 more)
Single nucleotide variant
(missense variant)
Amyotrophic lateral sclerosis type 22
GPathogenic
TUBA4A
Single nucleotide variant
(synonymous variant)
TUBA4A-related disorder
GLikely benign
TUBA4A
Single nucleotide variant
(splice acceptor variant)
TUBA4A-related disorder
GUncertain significance
TUBA4A
(D105G +1 more)
Single nucleotide variant
(missense variant)
TUBA4A-related disorder
GUncertain significance
TUBA4A
Single nucleotide variant
(synonymous variant)
TUBA4A-related disorder
GLikely benign
TUBA4A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TUBA4A
(R105C +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
TUBA4A
(D83A +1 more)
Single nucleotide variant
(missense variant)
TUBA4A-related disorder
GUncertain significance
TUBA4A
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TUBA4A
Single nucleotide variant
(intron variant)
not provided
GBenign
TUBA4A
(I60fs +1 more)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
TUBA4A
Single nucleotide variant
(synonymous variant)
TUBA4A-related disorder
GLikely benign
TUBA4A
(G29R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBA4A
(H13R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TUBA4A
Single nucleotide variant
(synonymous variant)
TUBA4A-related disorder
GLikely benign
TUBA4A
(Q11P)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
TUBA4A
Single nucleotide variant
(intron variant)
not provided
GBenign
TUBA4A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TUBA4A
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TUBA4A
Duplication
(intron variant)
not provided
GBenign
TUBA4A
Duplication
(intron variant)
not provided
GLikely benign
TUBA4A
Insertion
(intron variant)
not provided
GBenign
TUBA4A
Deletion
(intron variant)
not provided
GLikely benign
TUBA4A
Single nucleotide variant
(intron variant)
not provided
GBenign
TUBA4A
Insertion
(intron variant)
not provided
GBenign
TUBA4A, TUBA4B
Single nucleotide variant
(intron variant)
Ptosis
GUncertain significance
TUBA4A, TUBA4B
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TUBA4A, TUBA4B
Deletion
(intron variant)
not provided
GLikely benign
TUBA4A, TUBA4B
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC129935646, TUBA4A
+1 more
Duplication
(intron variant)
not provided
GBenign
Format
Items per page
Sort by
Choose Destination