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Links from MedGen

Items: 1 to 100 of 341

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYOT, PKD2L2-DT
(Q212* +2 more)
Single nucleotide variant
(nonsense)
Myofibrillar myopathy 3
GLikely pathogenic
MYOT, PKD2L2-DT
(E5K)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(intron variant)
Myofibrillar myopathy 3
GLikely benign
MYOT, PKD2L2-DT
Single nucleotide variant
(synonymous variant)
Myofibrillar myopathy 3
GLikely benign
MYOT, PKD2L2-DT
(T48R)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(5 prime UTR variant +2 more)
Myofibrillar myopathy 3
GLikely benign
MYOT, PKD2L2-DT
Single nucleotide variant
(5 prime UTR variant +1 more)
Myofibrillar myopathy 3
GLikely benign
MYOT, PKD2L2-DT
(L349F +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(Q360P +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(D217G +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(intron variant)
Myofibrillar myopathy 3
GLikely benign
MYOT, PKD2L2-DT
Single nucleotide variant
(synonymous variant)
Myofibrillar myopathy 3
GLikely benign
MYOT, PKD2L2-DT
Single nucleotide variant
(synonymous variant +1 more)
Myofibrillar myopathy 3
GLikely benign
MYOT, PKD2L2-DT
Deletion
(intron variant)
Myofibrillar myopathy 3
GLikely benign
MYOT, PKD2L2-DT
(P143S +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(L21M)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(synonymous variant)
Myofibrillar myopathy 3
GLikely benign
PKD2L2-DT, MYOT
(P192A +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(F266S +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(synonymous variant +1 more)
Myofibrillar myopathy 3
GLikely benign
MYOT, PKD2L2-DT
Single nucleotide variant
(5 prime UTR variant +1 more)
Myofibrillar myopathy 3
GLikely benign
MYOT, PKD2L2-DT
Single nucleotide variant
(synonymous variant +1 more)
Myofibrillar myopathy 3
GLikely benign
MYOT, PKD2L2-DT
Single nucleotide variant
(intron variant)
Myofibrillar myopathy 3
GLikely benign
MYOT, PKD2L2-DT
(S59N)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(E178D +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(F247C +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(synonymous variant +1 more)
Myofibrillar myopathy 3
GLikely benign
MYOT, PKD2L2-DT
(A34V +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
Deletion
(nonsense)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(intron variant)
Myofibrillar myopathy 3
GLikely benign
MYOT, PKD2L2-DT
(T288I +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(synonymous variant)
Myofibrillar myopathy 3
GLikely benign
MYOT, PKD2L2-DT
Single nucleotide variant
(synonymous variant)
Myofibrillar myopathy 3
GLikely benign
MYOT, PKD2L2-DT
(L351F +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(synonymous variant)
Myofibrillar myopathy 3
GLikely benign
MYOT, PKD2L2-DT
(S114G +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(T63I)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(Q42L +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(synonymous variant)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(synonymous variant)
Myofibrillar myopathy 3
GLikely benign
MYOT, PKD2L2-DT
Single nucleotide variant
(intron variant)
Myofibrillar myopathy 3
GLikely benign
MYOT, PKD2L2-DT
(P376T +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(R4fs +2 more)
Deletion
(frameshift variant)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(I158T +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(intron variant)
Myofibrillar myopathy 3
GLikely benign
MYOT, PKD2L2-DT
Single nucleotide variant
(synonymous variant)
Myofibrillar myopathy 3
GLikely benign
MYOT, PKD2L2-DT
(I11T)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(synonymous variant)
Myofibrillar myopathy 3
GLikely benign
MYOT, PKD2L2-DT
(R6G)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(C167Y +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(M75R +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(intron variant)
Myofibrillar myopathy 3
GLikely benign
MYOT, PKD2L2-DT
(T436K +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(P377T +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(synonymous variant)
Myofibrillar myopathy 3
GLikely benign
MYOT, PKD2L2-DT
(S56L)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
PKD2L2-DT, MYOT
(R271W +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 3
+1 more
GUncertain significance
MYOT, PKD2L2-DT
(R188K +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(Q75H)
Single nucleotide variant
(missense variant +2 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(M144V +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(A94T)
Single nucleotide variant
(5 prime UTR variant +2 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(A131V +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(E178K +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(A137T +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(A186S +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(T57fs)
Deletion
(frameshift variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(D228H +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(T170P +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(splice acceptor variant)
Myofibrillar myopathy 3
GUncertain significance
PKD2L2-DT, MYOT
(F276L +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 3
+2 more
GUncertain significance
MYOT, PKD2L2-DT
(R301H +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(V341I +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(R328K +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(synonymous variant)
Myofibrillar myopathy 3
GLikely benign
MYOT, PKD2L2-DT
(S189L +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(T105R +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(I40V)
Single nucleotide variant
(intron variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(T317S +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
MYOT, PKD2L2-DT
(Q7* +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(Q187H +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 3
GUncertain significance
PKD2L2-DT, MYOT
Single nucleotide variant
(intron variant)
Myofibrillar myopathy 3
GLikely benign
MYOT, PKD2L2-DT
(P108S +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(V237M +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 3
GUncertain significance
PKD2L2-DT, MYOT
(E480del +2 more)
Deletion
(inframe_deletion)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(V289fs +2 more)
Duplication
(frameshift variant)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(L180W +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(N208S +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(G18V)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(D106E)
Single nucleotide variant
(5 prime UTR variant +2 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(V152L +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(synonymous variant)
Myofibrillar myopathy 3
GLikely benign
MYOT, PKD2L2-DT
(C17S)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
Single nucleotide variant
(synonymous variant +1 more)
Myofibrillar myopathy 3
GLikely benign
MYOT, PKD2L2-DT
Single nucleotide variant
(intron variant)
Myofibrillar myopathy 3
GLikely benign
MYOT, PKD2L2-DT
Single nucleotide variant
(5 prime UTR variant +1 more)
Myofibrillar myopathy 3
GLikely benign
MYOT, PKD2L2-DT
Single nucleotide variant
(synonymous variant)
Myofibrillar myopathy 3
GLikely benign
MYOT, PKD2L2-DT
Single nucleotide variant
(synonymous variant)
Myofibrillar myopathy 3
GLikely benign
MYOT, PKD2L2-DT
Deletion
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(V197A +2 more)
Single nucleotide variant
(missense variant)
Myofibrillar myopathy 3
GUncertain significance
MYOT, PKD2L2-DT
(R6C)
Single nucleotide variant
(missense variant +1 more)
Myofibrillar myopathy 3
GUncertain significance
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