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Items: 1 to 100 of 108

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129935164, LOC129935165
+697 more
Copy number loss
See cases
GPathogenic
AGPS, ANKAR
+377 more
Copy number loss
See cases
GPathogenic
LOC126806416, LOC126806417
+591 more
Copy number loss
See cases
GPathogenic
ANKAR, ASDURF
+312 more
Copy number loss
See cases
GPathogenic
ANKAR, ANKRD44
+430 more
Copy number loss
See cases
GPathogenic
INPP1, ITGA4
+1097 more
Copy number gain
See cases
GPathogenic
ANKAR, ASDURF
+191 more
Copy number loss
See cases
GPathogenic
ANKAR, ANKRD44
+329 more
Copy number loss
See cases
GPathogenic
LOC129935343, LOC129935344
+1703 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1687 more
Copy number gain
See cases
GPathogenic
C2orf88, MSTN
Single nucleotide variant
(3 prime UTR variant)
Myostatin-related muscle hypertrophy
GBenign
C2orf88, MSTN
Single nucleotide variant
(3 prime UTR variant)
Myostatin-related muscle hypertrophy
GBenign
C2orf88, MSTN
Single nucleotide variant
(3 prime UTR variant)
Myostatin-related muscle hypertrophy
GBenign
C2orf88, MSTN
Single nucleotide variant
(3 prime UTR variant)
Myostatin-related muscle hypertrophy
GBenign
C2orf88, MSTN
Single nucleotide variant
(3 prime UTR variant)
Myostatin-related muscle hypertrophy
GUncertain significance
C2orf88, MSTN
Single nucleotide variant
(3 prime UTR variant)
Myostatin-related muscle hypertrophy
GUncertain significance
C2orf88, MSTN
Single nucleotide variant
(3 prime UTR variant)
Myostatin-related muscle hypertrophy
GBenign
C2orf88, MSTN
Deletion
(3 prime UTR variant)
Myostatin-related muscle hypertrophy
GLikely benign
C2orf88, MSTN
Single nucleotide variant
(3 prime UTR variant)
Myostatin-related muscle hypertrophy
GUncertain significance
C2orf88, MSTN
Single nucleotide variant
(3 prime UTR variant)
Myostatin-related muscle hypertrophy
GUncertain significance
C2orf88, MSTN
Single nucleotide variant
(3 prime UTR variant)
Myostatin-related muscle hypertrophy
GUncertain significance
C2orf88, MSTN
Single nucleotide variant
(3 prime UTR variant)
Myostatin-related muscle hypertrophy
GUncertain significance
C2orf88, MSTN
Single nucleotide variant
(3 prime UTR variant)
Myostatin-related muscle hypertrophy
+1 more
GBenign
C2orf88, MSTN
Single nucleotide variant
(3 prime UTR variant)
Myostatin-related muscle hypertrophy
GUncertain significance
C2orf88, MSTN
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GUncertain significance
C2orf88, MSTN
Single nucleotide variant
(3 prime UTR variant)
Myostatin-related muscle hypertrophy
GLikely benign
C2orf88, MSTN
Single nucleotide variant
(3 prime UTR variant)
Myostatin-related muscle hypertrophy
GBenign
C2orf88, MSTN
Single nucleotide variant
(3 prime UTR variant)
Myostatin-related muscle hypertrophy
GBenign
C2orf88, MSTN
Single nucleotide variant
(3 prime UTR variant)
Myostatin-related muscle hypertrophy
GUncertain significance
C2orf88, MSTN
Single nucleotide variant
(3 prime UTR variant)
Myostatin-related muscle hypertrophy
+1 more
GBenign
MSTN, C2orf88
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
C2orf88, MSTN
Single nucleotide variant
(3 prime UTR variant)
Myostatin-related muscle hypertrophy
GUncertain significance
C2orf88, MSTN
Single nucleotide variant
(3 prime UTR variant)
Myostatin-related muscle hypertrophy
+1 more
GBenign
C2orf88, MSTN
Single nucleotide variant
(3 prime UTR variant)
Myostatin-related muscle hypertrophy
GUncertain significance
C2orf88, MSTN
Single nucleotide variant
(3 prime UTR variant)
Myostatin-related muscle hypertrophy
GUncertain significance
C2orf88, MSTN
Single nucleotide variant
(3 prime UTR variant)
Myostatin-related muscle hypertrophy
GLikely benign
C2orf88, MSTN
Single nucleotide variant
(3 prime UTR variant)
Myostatin-related muscle hypertrophy
GBenign
C2orf88, MSTN
(R371H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C2orf88, MSTN
(R371C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C2orf88, MSTN
(M367I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C2orf88, MSTN
(G362E)
Single nucleotide variant
(missense variant)
Myostatin-related muscle hypertrophy
GUncertain significance
C2orf88, MSTN
Single nucleotide variant
(synonymous variant)
Myostatin-related muscle hypertrophy
GLikely benign
C2orf88, MSTN
(P332R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C2orf88, MSTN
(A306T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C2orf88, MSTN
Single nucleotide variant
(synonymous variant)
Myostatin-related muscle hypertrophy
GUncertain significance
C2orf88, MSTN
(G294A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C2orf88, MSTN
Single nucleotide variant
(synonymous variant)
not provided
GBenign
C2orf88, MSTN
Single nucleotide variant
(synonymous variant)
Myostatin-related muscle hypertrophy
GUncertain significance
C2orf88, MSTN
Single nucleotide variant
(intron variant)
Myostatin-related muscle hypertrophy
GLikely benign
C2orf88, MSTN
Single nucleotide variant
(intron variant)
not provided
GBenign
C2orf88, MSTN
Single nucleotide variant
(intron variant)
Myostatin-related muscle hypertrophy
GBenign
C2orf88, MSTN
(D247N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C2orf88, MSTN
(P244A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C2orf88, MSTN
(F241L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C2orf88, MSTN
(G234D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C2orf88, MSTN
(I225T)
Single nucleotide variant
(missense variant)
Myostatin-related muscle hypertrophy
+1 more
GBenign/Likely benign
C2orf88, MSTN
(Q213H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C2orf88, MSTN
(L212V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C2orf88, MSTN
(T184I)
Single nucleotide variant
(missense variant)
Myostatin-related muscle hypertrophy
GBenign
C2orf88, MSTN
(G183R)
Single nucleotide variant
(missense variant)
Myostatin-related muscle hypertrophy
GUncertain significance
C2orf88, MSTN
(M180V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C2orf88, MSTN
(I177L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C2orf88, MSTN
(Q172H)
Single nucleotide variant
(missense variant)
Myostatin-related muscle hypertrophy
GLikely benign
C2orf88, MSTN
Single nucleotide variant
(synonymous variant)
Myostatin-related muscle hypertrophy
GUncertain significance
C2orf88, MSTN
(P166S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C2orf88, MSTN
(E164K)
Single nucleotide variant
(missense variant)
Myostatin-related muscle hypertrophy
+1 more
GBenign/Likely benign
C2orf88, MSTN
(L156I)
Single nucleotide variant
(missense variant)
Myostatin-related muscle hypertrophy
GLikely benign
C2orf88, MSTN
(K153R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
C2orf88, MSTN
Single nucleotide variant
(synonymous variant)
Myostatin-related muscle hypertrophy
GUncertain significance
C2orf88, MSTN
(K136Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C2orf88, MSTN
(M129R)
Single nucleotide variant
(missense variant)
Myostatin-related muscle hypertrophy
+1 more
GBenign/Likely benign
C2orf88, MSTN
Single nucleotide variant
(intron variant)
not provided
GBenign
C2orf88, MSTN
Single nucleotide variant
(intron variant)
not provided
GBenign
MSTN, C2orf88
Deletion
(intron variant)
not provided
GBenign
C2orf88, MSTN
Single nucleotide variant
(intron variant)
Myostatin-related muscle hypertrophy
GPathogenic
C2orf88, MSTN
Single nucleotide variant
(synonymous variant)
Myostatin-related muscle hypertrophy
+1 more
GBenign
C2orf88, MSTN
(R88Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
C2orf88, MSTN
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
C2orf88, MSTN
(R65H)
Single nucleotide variant
(missense variant)
MSTN-related disorder
GLikely benign
MSTN, C2orf88
Single nucleotide variant
(synonymous variant)
Myostatin-related muscle hypertrophy
+1 more
GBenign/Likely benign
C2orf88, MSTN
(A55V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C2orf88, MSTN
(A55T)
Single nucleotide variant
(missense variant)
Myostatin-related muscle hypertrophy
+1 more
GBenign
C2orf88, MSTN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C2orf88, MSTN
(V33A)
Single nucleotide variant
(missense variant)
Myostatin-related muscle hypertrophy
GUncertain significance
C2orf88, MSTN
(K30T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C2orf88, MSTN
Single nucleotide variant
(synonymous variant)
MSTN-related disorder
GLikely benign
C2orf88, MSTN
Single nucleotide variant
(5 prime UTR variant)
Myostatin-related muscle hypertrophy
GBenign
C2orf88, MSTN
Microsatellite
(5 prime UTR variant)
Myostatin-related muscle hypertrophy
GLikely benign
C2orf88, MSTN
Single nucleotide variant
(5 prime UTR variant)
Myostatin-related muscle hypertrophy
GUncertain significance
AAMP, ABCA12
+208 more
Copy number gain
See cases
GPathogenic
ANKAR, ASNSD1
+17 more
Duplication
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
+2 more
GUncertain significance
ABI2, ADAM23
+107 more
Copy number loss
not provided
GPathogenic
C2orf88, HIBCH
+1 more
Copy number gain
not provided
GUncertain significance
ANKAR, ANKRD44
+48 more
Copy number loss
not provided
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
ABI2, ACADL
+127 more
Copy number loss
Chromosome 2q32-q33 deletion syndrome
GPathogenic
AGPS, ANKAR
+217 more
Copy number gain
not specified
GPathogenic
AAMP, ABCA12
+384 more
Copy number gain
See cases
GPathogenic
MSTN
Copy number loss
not provided
GUncertain significance
ANKAR, ASNSD1
+34 more
Copy number gain
not provided
GLikely pathogenic
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