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Links from MedGen

Items: 79

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BCS1L
(L126fs +2 more)
Deletion
(frameshift variant +1 more)
Pili torti-deafness syndrome
GLikely pathogenic
BCS1L
(S190* +2 more)
Single nucleotide variant
(nonsense +1 more)
Pili torti-deafness syndrome
GLikely pathogenic
BCS1L
(R219* +2 more)
Single nucleotide variant
(nonsense +1 more)
Pili torti-deafness syndrome
GLikely pathogenic
BCS1L
(K133fs +2 more)
Insertion
(frameshift variant +1 more)
Pili torti-deafness syndrome
GLikely pathogenic
BCS1L
(R90fs)
Duplication
(frameshift variant +3 more)
Pili torti-deafness syndrome
GLikely pathogenic
BCS1L
(K165fs +1 more)
Deletion
(frameshift variant +2 more)
Pili torti-deafness syndrome
GLikely pathogenic
BCS1L
(D150fs +2 more)
Deletion
(frameshift variant +1 more)
Pili torti-deafness syndrome
+1 more
GPathogenic/Likely pathogenic
BCS1L
(R145fs +2 more)
Deletion
(frameshift variant +1 more)
Pili torti-deafness syndrome
GLikely pathogenic
BCS1L
(R176fs +2 more)
Duplication
(frameshift variant +1 more)
Pili torti-deafness syndrome
GLikely pathogenic
BCS1L
(G125fs +2 more)
Indel
(frameshift variant +1 more)
Pili torti-deafness syndrome
GLikely pathogenic
BCS1L
(E13* +1 more)
Single nucleotide variant
(nonsense +3 more)
Pili torti-deafness syndrome
GLikely pathogenic
BCS1L
(Q194* +2 more)
Single nucleotide variant
(nonsense +1 more)
Pili torti-deafness syndrome
GLikely pathogenic
BCS1L
(R104fs +2 more)
Deletion
(frameshift variant +1 more)
Pili torti-deafness syndrome
GLikely pathogenic
BCS1L
(W192* +2 more)
Single nucleotide variant
(nonsense +1 more)
Pili torti-deafness syndrome
GLikely pathogenic
BCS1L
Single nucleotide variant
(5 prime UTR variant +2 more)
Pili torti-deafness syndrome
GLikely pathogenic
BCS1L
(N165fs +2 more)
Deletion
(frameshift variant +1 more)
Pili torti-deafness syndrome
GLikely pathogenic
BCS1L
Single nucleotide variant
(splice acceptor variant +1 more)
Neonatal encephalopathy
+1 more
GLikely pathogenic
BCS1L
(R265* +2 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
BCS1L
(V202fs +2 more)
Insertion
(frameshift variant +1 more)
Pili torti-deafness syndrome
+2 more
GLikely pathogenic
BCS1L
(V135fs +1 more)
Insertion
(frameshift variant +3 more)
Pili torti-deafness syndrome
+2 more
GLikely pathogenic
BCS1L
(C114* +2 more)
Single nucleotide variant
(nonsense +1 more)
Pili torti-deafness syndrome
+2 more
GLikely pathogenic
BCS1L
(L159* +1 more)
Single nucleotide variant
(nonsense +2 more)
Pili torti-deafness syndrome
+2 more
GLikely pathogenic
BCS1L
(H104fs)
Insertion
(frameshift variant +3 more)
Pili torti-deafness syndrome
+2 more
GLikely pathogenic
BCS1L
(N100fs +2 more)
Insertion
(frameshift variant +1 more)
Pili torti-deafness syndrome
+2 more
GLikely pathogenic
BCS1L
(E175fs +2 more)
Deletion
(frameshift variant +1 more)
Pili torti-deafness syndrome
+2 more
GLikely pathogenic
BCS1L
(R139C +2 more)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex III deficiency nuclear type 1
+3 more
GPathogenic/Likely pathogenic
BCS1L
(R114W)
Single nucleotide variant
(missense variant +3 more)
not provided
+1 more
GPathogenic/Likely pathogenic
BCS1L
(Q40* +1 more)
Single nucleotide variant
(nonsense +2 more)
not provided
+2 more
GPathogenic/Likely pathogenic
BCS1L
(R185Q +2 more)
Single nucleotide variant
(missense variant +1 more)
GRACILE syndrome
+3 more
GUncertain significance
BCS1L
(R266Q +2 more)
Single nucleotide variant
(missense variant +1 more)
GRACILE syndrome
+3 more
GUncertain significance
BCS1L
(K165* +1 more)
Single nucleotide variant
(nonsense +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
BCS1L
(Q75H +2 more)
Single nucleotide variant
(missense variant +1 more)
Pili torti-deafness syndrome
+3 more
GUncertain significance
BCS1L
(Y181* +2 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
BCS1L
(F142L +2 more)
Single nucleotide variant
(missense variant +1 more)
GRACILE syndrome
+3 more
GUncertain significance
BCS1L
(R69H)
Single nucleotide variant
(missense variant +3 more)
not provided
+3 more
GUncertain significance
BCS1L
(P240fs +2 more)
Deletion
(frameshift variant +1 more)
Mitochondrial complex III deficiency nuclear type 1
+2 more
GUncertain significance
BCS1L
(S65R)
Single nucleotide variant
(missense variant +3 more)
Mitochondrial complex III deficiency nuclear type 1
+3 more
GUncertain significance
BCS1L
(R155* +1 more)
Single nucleotide variant
(nonsense +2 more)
Pili torti-deafness syndrome
+1 more
GPathogenic/Likely pathogenic
BCS1L
(R139H +2 more)
Single nucleotide variant
(missense variant +1 more)
Pili torti-deafness syndrome
+3 more
GPathogenic/Likely pathogenic
BCS1L
(G113fs +2 more)
Deletion
(frameshift variant +1 more)
Pili torti-deafness syndrome
+4 more
GPathogenic/Likely pathogenic
BCS1L
(K94fs)
Deletion
(frameshift variant +3 more)
not provided
+1 more
GPathogenic/Likely pathogenic
BCS1L
(W176* +2 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
BCS1L, LOC129935609
Single nucleotide variant
(5 prime UTR variant +1 more)
Leigh syndrome
+3 more
GUncertain significance
BCS1L
(R119*)
Single nucleotide variant
(nonsense +3 more)
Pili torti-deafness syndrome
+3 more
GPathogenic/Likely pathogenic
BCS1L
Single nucleotide variant
(synonymous variant +3 more)
GRACILE syndrome
+3 more
GLikely benign
BCS1L
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GLikely benign
BCS1L
Single nucleotide variant
(intron variant)
GRACILE syndrome
+3 more
GBenign
BCS1L
(R144* +1 more)
Single nucleotide variant
(nonsense +3 more)
GRACILE syndrome
+3 more
GPathogenic/Likely pathogenic
BCS1L
(E13fs +1 more)
Deletion
(frameshift variant +3 more)
not provided
+3 more
GConflicting classifications of pathogenicity
BCS1L
(G173D +2 more)
Single nucleotide variant
(missense variant +1 more)
Pili torti-deafness syndrome
+2 more
GConflicting classifications of pathogenicity
BCS1L
(R90C)
Single nucleotide variant
(missense variant +3 more)
Pili torti-deafness syndrome
+3 more
GPathogenic/Likely pathogenic
BCS1L
(P154fs +2 more)
Deletion
(frameshift variant +1 more)
GRACILE syndrome
+2 more
GPathogenic/Likely pathogenic
BCS1L
(R45H)
Single nucleotide variant
(missense variant +3 more)
not provided
+3 more
GConflicting classifications of pathogenicity
BCS1L
Deletion
(intron variant)
GRACILE syndrome
+4 more
GLikely benign
BCS1L
(M329V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
BCS1L
Single nucleotide variant
(synonymous variant +1 more)
not provided
+4 more
GLikely benign
BCS1L
(R200* +2 more)
Single nucleotide variant
(nonsense +1 more)
Mitochondrial complex III deficiency nuclear type 1
+3 more
GPathogenic/Likely pathogenic
BCS1L
(R186* +2 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
BCS1L
(S82*)
Single nucleotide variant
(nonsense +3 more)
not provided
+3 more
GPathogenic/Likely pathogenic
BCS1L
(R117*)
Single nucleotide variant
(nonsense +3 more)
not provided
+2 more
GPathogenic/Likely pathogenic
BCS1L
Single nucleotide variant
(splice donor variant)
GRACILE syndrome
+3 more
GPathogenic/Likely pathogenic
BCS1L
(R109W)
Single nucleotide variant
(missense variant +3 more)
Pili torti-deafness syndrome
+2 more
GPathogenic/Likely pathogenic
BCS1L
(R291* +2 more)
Single nucleotide variant
(nonsense +1 more)
BCS1L-related disorder
+3 more
GConflicting classifications of pathogenicity
BCS1L
(V167M +1 more)
Single nucleotide variant
(missense variant +2 more)
GRACILE syndrome
+3 more
GUncertain significance
BCS1L
(R69C)
Single nucleotide variant
(missense variant +3 more)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
BCS1L
Single nucleotide variant
(synonymous variant +1 more)
not provided
+5 more
GBenign
BCS1L
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign/Likely benign
BCS1L
Single nucleotide variant
(synonymous variant +1 more)
not provided
+5 more
GBenign
BCS1L
(D210N +2 more)
Single nucleotide variant
(missense variant +1 more)
GRACILE syndrome
+5 more
GBenign/Likely benign
BCS1L
(Y301N +2 more)
Single nucleotide variant
(missense variant +1 more)
Pili torti-deafness syndrome
GPathogenic
BCS1L
Single nucleotide variant
(splice donor variant +1 more)
not provided
+4 more
GPathogenic/Likely pathogenic
BCS1L
(R183C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
BCS1L
(R184C +2 more)
Single nucleotide variant
(missense variant +1 more)
Pili torti-deafness syndrome
+4 more
GPathogenic/Likely pathogenic
BCS1L
(R183H +2 more)
Single nucleotide variant
(missense variant +1 more)
Pili torti-deafness syndrome
+4 more
GPathogenic
BCS1L
(R56*)
Single nucleotide variant
(nonsense +3 more)
Pili torti-deafness syndrome
+5 more
GPathogenic
BCS1L
(R45C)
Single nucleotide variant
(missense variant +3 more)
not provided
+1 more
GPathogenic/Likely pathogenic
BCS1L
(S78G)
Single nucleotide variant
(missense variant +3 more)
Pili torti-deafness syndrome
+3 more
GPathogenic
BCS1L
(V353M +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
BCS1L
(P99L)
Single nucleotide variant
(missense variant +3 more)
not provided
+2 more
GPathogenic/Likely pathogenic
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