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Items: 1 to 100 of 241

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CPSF7, DAGLA
+30 more
Copy number gain
See cases
GLikely benign
LOC130005805, MYRF
Single nucleotide variant
not provided
GBenign
MYRF, MYRF-AS1
Single nucleotide variant
(5 prime UTR variant +1 more)
MYRF-related disorder
GLikely benign
MYRF, MYRF-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
MYRF
Single nucleotide variant
(synonymous variant)
MYRF-related disorder
GLikely benign
MYRF
Deletion
(splice acceptor variant +1 more)
Cardiac-urogenital syndrome
GPathogenic
MYRF
Single nucleotide variant
(synonymous variant)
MYRF-related disorder
GLikely benign
MYRF
(A43T +1 more)
Single nucleotide variant
(missense variant)
MYRF-related disorder
GBenign
MYRF
Single nucleotide variant
(synonymous variant)
MYRF-related disorder
GLikely benign
MYRF
(G53E +1 more)
Single nucleotide variant
(missense variant)
MYRF-related disorder
GUncertain significance
MYRF
(S67N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYRF
(G72fs +1 more)
Duplication
(frameshift variant)
Heart, malformation of
+2 more
GLikely pathogenic
MYRF
(P84L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYRF
(P84S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYRF
(P93L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYRF
(T88P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
MYRF
(N91I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYRF
(N102K +1 more)
Single nucleotide variant
(missense variant)
Developmental disorder
GUncertain significance
MYRF
(N105D +1 more)
Single nucleotide variant
(missense variant)
Disorder of sexual differentiation
GLikely pathogenic
MYRF
(G99D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYRF
(G108fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
MYRF
(G108fs +1 more)
Indel
(frameshift variant)
Cardiac-urogenital syndrome
GPathogenic
MYRF
(P120S +1 more)
Single nucleotide variant
(missense variant)
Cardiac-urogenital syndrome
+1 more
GUncertain significance
MYRF
Single nucleotide variant
(intron variant)
not provided
GBenign
MYRF
Single nucleotide variant
(intron variant)
not provided
GBenign
MYRF
Single nucleotide variant
(intron variant)
not provided
GBenign
MYRF
Single nucleotide variant
(intron variant)
MYRF-related disorder
GLikely benign
MYRF
Single nucleotide variant
(synonymous variant)
MYRF-related disorder
GLikely benign
MYRF
(S133W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYRF
(G134fs +1 more)
Deletion
(frameshift variant)
Cardiac-urogenital syndrome
GPathogenic
MYRF
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MYRF
(Q141* +1 more)
Single nucleotide variant
(nonsense)
Cardiac-urogenital syndrome
GLikely pathogenic
MYRF
Single nucleotide variant
(intron variant)
not provided
GBenign
MYRF
Single nucleotide variant
(intron variant)
not provided
GBenign
MYRF
(P146S +1 more)
Single nucleotide variant
(missense variant)
Encephalitis/encephalopathy, mild, with reversible myelin vacuolization
GUncertain significance
MYRF
(R150C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYRF
(T153I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYRF
(E155fs +1 more)
Microsatellite
(frameshift variant)
MYRF-related disorder
GPathogenic
MYRF
(V160M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYRF
(R174C +1 more)
Single nucleotide variant
(missense variant)
MYRF-related disorder
+2 more
GUncertain significance
MYRF
(R165H +1 more)
Single nucleotide variant
(missense variant)
MYRF-related disorder
GLikely benign
MYRF
(P178L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYRF
(P179S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYRF
(P180S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYRF
Single nucleotide variant
(synonymous variant)
MYRF-related disorder
GLikely benign
MYRF
Single nucleotide variant
(synonymous variant)
MYRF-related disorder
GLikely benign
MYRF
(P182S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYRF
(P194S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYRF
(R203W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYRF
(M198T +1 more)
Single nucleotide variant
(missense variant)
MYRF-related disorder
GLikely benign
MYRF
(H206fs +1 more)
Deletion
(frameshift variant)
Cardiac-urogenital syndrome
GLikely pathogenic
MYRF
(Y207* +1 more)
Single nucleotide variant
(nonsense)
Cardiac-urogenital syndrome
GPathogenic
MYRF
(A209V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYRF
(S225F +1 more)
Single nucleotide variant
(missense variant)
MYRF-related disorder
GBenign
MYRF
(L228P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYRF
(Q234H +1 more)
Single nucleotide variant
(missense variant)
Cardiac-urogenital syndrome
GUncertain significance
MYRF
(S255fs +1 more)
Duplication
(frameshift variant)
Non-immune hydrops fetalis
+2 more
GPathogenic/Likely pathogenic
MYRF
(S255fs +1 more)
Deletion
(frameshift variant)
Cardiac-urogenital syndrome
+1 more
GConflicting classifications of pathogenicity
MYRF
(P253A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYRF
Single nucleotide variant
(synonymous variant)
not provided
GBenign
MYRF
(S255R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYRF
(L266H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYRF
(N258S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYRF
(T281I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYRF
(T274I +1 more)
Single nucleotide variant
(missense variant)
MYRF-related disorder
GLikely benign
LOC130005807, MYRF
Deletion
(splice acceptor variant +1 more)
Cardiac-urogenital syndrome
GLikely pathogenic
MYRF
(R282* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
MYRF
(R282Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYRF
(P293L +1 more)
Single nucleotide variant
(missense variant)
MYRF-related disorder
GLikely benign
MYRF
(S295Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MYRF
Single nucleotide variant
(synonymous variant)
MYRF-related disorder
GLikely benign
MYRF
(A306V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYRF
(W313* +1 more)
Single nucleotide variant
(nonsense)
Cardiac-urogenital syndrome
GLikely pathogenic
MYRF
(D326A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYRF
(D336E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYRF
(P346S +1 more)
Single nucleotide variant
(missense variant)
Scimitar syndrome
GUncertain significance
MYRF
(H347R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYRF
(Q349* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
MYRF
Single nucleotide variant
(intron variant)
MYRF-related disorder
GLikely benign
MYRF
Duplication
(intron variant)
MYRF-related disorder
GLikely benign
MYRF
Single nucleotide variant
(intron variant)
MYRF-related disorder
GLikely benign
MYRF
Single nucleotide variant
(intron variant)
MYRF-related disorder
GLikely benign
MYRF
(L375F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYRF
(F378S +1 more)
Single nucleotide variant
(missense variant)
Heart, malformation of
+1 more
GLikely pathogenic
MYRF
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GUncertain significance
MYRF
(D382N +1 more)
Single nucleotide variant
(missense variant)
MYRF-related disorder
GUncertain significance
MYRF
(N400K +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
MYRF
(Q403* +1 more)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
GPathogenic
MYRF
(Q394L +1 more)
Single nucleotide variant
(missense variant)
MYRF-related disorder
GPathogenic
MYRF
(Q403R +1 more)
Single nucleotide variant
(missense variant)
Encephalitis/encephalopathy, mild, with reversible myelin vacuolization
GPathogenic
MYRF
(Q394H +1 more)
Single nucleotide variant
(missense variant)
Heart, malformation of
+2 more
GLikely pathogenic
MYRF
(L402V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYRF
(P405L +1 more)
Single nucleotide variant
(missense variant)
MYRF-related disorder
GLikely pathogenic
MYRF
Single nucleotide variant
(synonymous variant)
MYRF-related disorder
GLikely benign
MYRF
(V408I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYRF
(T419fs +1 more)
Duplication
(frameshift variant)
Cardiac-urogenital syndrome
GPathogenic
MYRF
(T410M +1 more)
Single nucleotide variant
(missense variant)
Malignant tumor of prostate
GUncertain significance
MYRF
(E412K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MYRF
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
MYRF
Single nucleotide variant
(synonymous variant)
MYRF-related disorder
GLikely benign
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