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Items: 1 to 100 of 142

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYLK, MYLK-AS1
Single nucleotide variant
(3 prime UTR variant)
Aortic aneurysm, familial thoracic 7
+1 more
GUncertain significance
MYLK, MYLK-AS1
Single nucleotide variant
(3 prime UTR variant)
Aortic aneurysm, familial thoracic 7
+1 more
GUncertain significance
MYLK, MYLK-AS1
Single nucleotide variant
(3 prime UTR variant)
Aortic aneurysm, familial thoracic 7
+1 more
GLikely benign
MYLK, MYLK-AS1
Single nucleotide variant
(3 prime UTR variant)
Megacystis-microcolon-intestinal hypoperistalsis syndrome 1
+1 more
GUncertain significance
MYLK, MYLK-AS1
Deletion
(3 prime UTR variant)
Aortic aneurysm, familial thoracic 7
+2 more
GUncertain significance
MYLK, MYLK-AS1
(T1716I +6 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
+1 more
GUncertain significance
MYLK, MYLK-AS1
(D1641N +6 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
+2 more
GUncertain significance
MYLK, MYLK-AS1
(R1816H +6 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GConflicting classifications of pathogenicity
MYLK-AS1, MYLK
(R1640C +6 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
+2 more
GUncertain significance
MYLK, MYLK-AS1
(V1792M +6 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
MYLK, MYLK-AS1
Microsatellite
(intron variant)
Megacystis-microcolon-intestinal hypoperistalsis syndrome 1
+1 more
GLikely benign
LOC126806791, MYLK
+1 more
(N1522H +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Megacystis-microcolon-intestinal hypoperistalsis syndrome 1
+2 more
GUncertain significance
LOC126806791, MYLK
+1 more
Single nucleotide variant
(non-coding transcript variant +2 more)
Megacystis-microcolon-intestinal hypoperistalsis syndrome 1
+4 more
GBenign
LOC126806791, MYLK
+1 more
(D1613N +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Megacystis-microcolon-intestinal hypoperistalsis syndrome 1
+2 more
GUncertain significance
LOC126806791, MYLK
+1 more
(N1603S +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Aortic aneurysm, familial thoracic 7
+3 more
GUncertain significance
LOC126806791, MYLK
+1 more
(D1666G +2 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Aortic aneurysm, familial thoracic 7
+2 more
GUncertain significance
MYLK
(G1639A +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
+2 more
GUncertain significance
MYLK
(G1639R +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
+3 more
GUncertain significance
MYLK
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GBenign/Likely benign
MYLK
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GLikely benign
MYLK
(R1498W +2 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
MYLK
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 7
+3 more
GLikely benign
MYLK
(K1355N +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
MYLK
(C1339Y +2 more)
Single nucleotide variant
(missense variant)
Megacystis-microcolon-intestinal hypoperistalsis syndrome 1
+2 more
GUncertain significance
MYLK
(R1304Q +2 more)
Single nucleotide variant
(missense variant)
Megacystis-microcolon-intestinal hypoperistalsis syndrome 1
+2 more
GUncertain significance
MYLK
(R1293K +2 more)
Single nucleotide variant
(missense variant)
Megacystis-microcolon-intestinal hypoperistalsis syndrome 1
+2 more
GUncertain significance
MYLK
(R1450Q +2 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
MYLK
Single nucleotide variant
(intron variant)
Aortic aneurysm, familial thoracic 7
+3 more
GLikely benign
MYLK
(P1431L +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
+3 more
GConflicting classifications of pathogenicity
MYLK
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GLikely benign
MYLK
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GLikely benign
MYLK
(R1229H +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
+3 more
GUncertain significance
MYLK
(R1316H +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
+3 more
GUncertain significance
MYLK
(R1209C +2 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
MYLK
(E1193K +2 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
MYLK
(S1361N +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
+1 more
GUncertain significance
MYLK
(G1360D +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
+1 more
GUncertain significance
MYLK
(R1168W +2 more)
Single nucleotide variant
(missense variant)
Megacystis-microcolon-intestinal hypoperistalsis syndrome 1
+2 more
GUncertain significance
MYLK
(R1301C +2 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GUncertain significance
MYLK
(A1300V +2 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
MYLK
(E1282K +2 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GUncertain significance
MYLK
(Q1279R +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
+1 more
GUncertain significance
MYLK
(R1250H +2 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
MYLK
(P1232L +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
+3 more
GUncertain significance
MYLK
(P1159A +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
+1 more
GUncertain significance
MYLK
(V1213L +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
+4 more
GUncertain significance
MYLK
(V1213M +2 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GUncertain significance
MYLK
Single nucleotide variant
(synonymous variant)
Megacystis-microcolon-intestinal hypoperistalsis syndrome 1
+2 more
GLikely benign
MYLK
(R1204Q +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
+3 more
GUncertain significance
MYLK
(R1204W +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
+4 more
GConflicting classifications of pathogenicity
MYLK
(S1027F +2 more)
Single nucleotide variant
(missense variant)
Megacystis-microcolon-intestinal hypoperistalsis syndrome 1
+2 more
GUncertain significance
MYLK
(S1017R +2 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GUncertain significance
MYLK
(E1158K +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
+2 more
GUncertain significance
MYLK
(T1132M +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
+1 more
GUncertain significance
MYLK
(Q1025L +2 more)
Single nucleotide variant
(missense variant)
Megacystis-microcolon-intestinal hypoperistalsis syndrome 1
+3 more
GUncertain significance
MYLK
(G1083E +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
+3 more
GUncertain significance
MYLK
(H1081R +2 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign/Likely benign
MYLK
(V1002I +2 more)
Single nucleotide variant
(missense variant)
Megacystis-microcolon-intestinal hypoperistalsis syndrome 1
+2 more
GUncertain significance
MYLK
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
MYLK
(N1058Y +2 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GUncertain significance
MYLK
Deletion
(inframe_deletion)
not specified
+2 more
GUncertain significance
MYLK
(E1045K +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
+3 more
GUncertain significance
MYLK
Deletion
(inframe_deletion)
not provided
+3 more
GUncertain significance
MYLK
(P1043A +2 more)
Single nucleotide variant
(missense variant)
Megacystis-microcolon-intestinal hypoperistalsis syndrome 1
+3 more
GUncertain significance
MYLK
(A1041T +2 more)
Single nucleotide variant
(missense variant)
Megacystis-microcolon-intestinal hypoperistalsis syndrome 1
+3 more
GUncertain significance
MYLK
Single nucleotide variant
(synonymous variant)
Megacystis-microcolon-intestinal hypoperistalsis syndrome 1
+4 more
GBenign
MYLK
(N995D +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
MYLK
(D804E +2 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GUncertain significance
MYLK
(P979L +2 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
MYLK
(V967M +2 more)
Single nucleotide variant
(missense variant)
Megacystis-microcolon-intestinal hypoperistalsis syndrome 1
+4 more
GUncertain significance
MYLK
(R954C +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
+2 more
GUncertain significance
MYLK
(R755Q +2 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GUncertain significance
MYLK
(R931W +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
+2 more
GUncertain significance
MYLK
(E745K +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
+3 more
GUncertain significance
MYLK
(R712C +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
+3 more
GUncertain significance
MYLK
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GLikely benign
MYLK
(R700C +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
MYLK
(G866S +2 more)
Single nucleotide variant
(missense variant)
Megacystis-microcolon-intestinal hypoperistalsis syndrome 1
+3 more
GUncertain significance
MYLK
(G658R +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
+1 more
GUncertain significance
MYLK
(E829K +2 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GLikely benign
MYLK
(S827R +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
+2 more
GUncertain significance
MYLK
(P825L +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MYLK
Single nucleotide variant
(intron variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GConflicting classifications of pathogenicity
MYLK
(R821W +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
+3 more
GUncertain significance
MYLK
(C629W +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
+3 more
GUncertain significance
MYLK
(E802K +2 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
MYLK
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 7
+2 more
GConflicting classifications of pathogenicity
MYLK
(V800F +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
MYLK
(L620V +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
+1 more
GUncertain significance
MYLK
(G721S +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
+3 more
GUncertain significance
MYLK
(D717N +2 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+8 more
GUncertain significance
MYLK
(Q707* +2 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GUncertain significance
MYLK
(R529H +2 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GUncertain significance
MYLK
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 7
+4 more
GBenign/Likely benign
MYLK
(T690M +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
+3 more
GUncertain significance
MYLK
(P687L +2 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GUncertain significance
MYLK
(G675R +2 more)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+4 more
GBenign/Likely benign
MYLK
(W480C +2 more)
Single nucleotide variant
(missense variant)
Aortic aneurysm, familial thoracic 7
+1 more
GUncertain significance
MYLK
(P652R +2 more)
Single nucleotide variant
(missense variant)
Congenital aneurysm of ascending aorta
+3 more
GUncertain significance
MYLK
Single nucleotide variant
(synonymous variant)
Aortic aneurysm, familial thoracic 7
+2 more
GLikely benign
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