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Links from MedGen

Items: 1 to 100 of 104

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BCS1L
(A9T)
Single nucleotide variant
(missense variant +3 more)
Mitochondrial complex III deficiency nuclear type 1
GPathogenic
LYRM7
Single nucleotide variant
(splice acceptor variant)
Mitochondrial complex III deficiency nuclear type 1
GPathogenic
BCS1L
(D57G)
Single nucleotide variant
(missense variant +3 more)
Mitochondrial complex III deficiency nuclear type 1
GLikely 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
Single nucleotide variant
(splice donor variant)
Mitochondrial complex III deficiency nuclear type 1
GPathogenic
BCS1L
(R139C +2 more)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex III deficiency nuclear type 1
+3 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
(Q75H +2 more)
Single nucleotide variant
(missense variant +1 more)
Pili torti-deafness syndrome
+3 more
GUncertain significance
BCS1L
(S118G +2 more)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex III deficiency nuclear type 1
GPathogenic
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
(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, LOC129935609
Single nucleotide variant
(5 prime UTR variant +1 more)
Leigh syndrome
+3 more
GUncertain significance
BCS1L
(N69S +2 more)
Single nucleotide variant
(missense variant +1 more)
GRACILE syndrome
+2 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
(V167I +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
BCS1L
(R144* +1 more)
Single nucleotide variant
(nonsense +3 more)
GRACILE syndrome
+3 more
GPathogenic/Likely pathogenic
BCS1L
(R90C)
Single nucleotide variant
(missense variant +3 more)
Pili torti-deafness syndrome
+3 more
GPathogenic/Likely pathogenic
BCS1L
(R73C)
Single nucleotide variant
(missense variant +3 more)
GRACILE syndrome
+2 more
GConflicting classifications of pathogenicity
BCS1L
(R45H)
Single nucleotide variant
(missense variant +3 more)
not provided
+3 more
GConflicting classifications of pathogenicity
BCS1L
Single nucleotide variant
(5 prime UTR variant +2 more)
GRACILE syndrome
+2 more
GConflicting classifications of pathogenicity
BCS1L
Deletion
(intron variant)
GRACILE syndrome
+4 more
GLikely benign
BCS1L
Single nucleotide variant
(synonymous variant +1 more)
BCS1L-related disorder
+5 more
GConflicting classifications of pathogenicity
BCS1L
(M329V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
BCS1L
(G129R +1 more)
Single nucleotide variant
(missense variant +3 more)
Leigh syndrome
+2 more
GPathogenic/Likely pathogenic
BCS1L
Single nucleotide variant
(synonymous variant +3 more)
BCS1L-related disorder
+5 more
GConflicting classifications of pathogenicity
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
(S82*)
Single nucleotide variant
(nonsense +3 more)
not provided
+3 more
GPathogenic/Likely pathogenic
BCS1L
Single nucleotide variant
(splice donor variant)
GRACILE syndrome
+3 more
GPathogenic/Likely pathogenic
UQCRQ
Deletion
(3 prime UTR variant)
Mitochondrial complex III deficiency nuclear type 1
GLikely benign
LOC126807509, UQCRQ
Deletion
(5 prime UTR variant)
Mitochondrial complex III deficiency nuclear type 1
GUncertain significance
BCS1L
Single nucleotide variant
(synonymous variant +1 more)
GRACILE syndrome
+4 more
GConflicting classifications of pathogenicity
BCS1L
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
BCS1L
Single nucleotide variant
(intron variant)
GRACILE syndrome
+3 more
GConflicting classifications of pathogenicity
BCS1L
Single nucleotide variant
(synonymous variant +3 more)
not provided
+3 more
GConflicting classifications of pathogenicity
BCS1L
(L38V)
Single nucleotide variant
(missense variant +3 more)
Leigh syndrome
+2 more
GUncertain significance
BCS1L
Single nucleotide variant
(5 prime UTR variant +2 more)
GRACILE syndrome
+3 more
GConflicting classifications of pathogenicity
BCS1L
Single nucleotide variant
(5 prime UTR variant +2 more)
Leigh syndrome
+2 more
GUncertain significance
BCS1L
Single nucleotide variant
(5 prime UTR variant +3 more)
GRACILE syndrome
+2 more
GUncertain significance
BCS1L, LOC129935609
Single nucleotide variant
(5 prime UTR variant +1 more)
GRACILE syndrome
+2 more
GUncertain significance
TTC19, NCOR1
Single nucleotide variant
(3 prime UTR variant)
Mitochondrial complex III deficiency nuclear type 1
GUncertain significance
TTC19
Indel
(3 prime UTR variant)
Mitochondrial complex III deficiency nuclear type 1
GUncertain significance
TTC19
Duplication
(3 prime UTR variant)
Mitochondrial complex III deficiency nuclear type 1
GUncertain significance
TTC19
Deletion
(3 prime UTR variant)
Mitochondrial complex III deficiency nuclear type 1
GUncertain significance
TTC19
Duplication
(3 prime UTR variant)
Mitochondrial complex III deficiency nuclear type 1
GUncertain significance
TTC19
Duplication
(3 prime UTR variant)
Mitochondrial complex III deficiency nuclear type 1
GUncertain significance
TTC19
Duplication
(3 prime UTR variant)
Mitochondrial complex III deficiency nuclear type 1
GUncertain significance
TTC19
Duplication
(3 prime UTR variant)
Mitochondrial complex III deficiency nuclear type 1
GUncertain significance
TTC19
Duplication
(3 prime UTR variant)
Mitochondrial complex III deficiency nuclear type 1
GUncertain significance
TTC19
Duplication
(3 prime UTR variant)
Mitochondrial complex III deficiency nuclear type 1
GLikely benign
TTC19, LOC130060312
Duplication
(3 prime UTR variant)
Mitochondrial complex III deficiency nuclear type 1
GUncertain significance
TTC19
Deletion
(3 prime UTR variant)
Mitochondrial complex III deficiency nuclear type 1
GUncertain significance
TTC19
Deletion
(inframe_indel)
Mitochondrial complex III deficiency nuclear type 1
GUncertain significance
TTC19
Single nucleotide variant
Inborn genetic diseases
+1 more
GUncertain significance
TTC19
Single nucleotide variant
Mitochondrial complex III deficiency nuclear type 1
GUncertain significance
ZSWIM7, TTC19
Single nucleotide variant
(5 prime UTR variant)
Mitochondrial complex III deficiency nuclear type 1
+1 more
GConflicting classifications of pathogenicity
LOC130060310, TTC19
+1 more
Single nucleotide variant
(5 prime UTR variant)
Mitochondrial complex III deficiency nuclear type 1
GUncertain significance
TTC19, ZSWIM7
(R25Q)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
LOC130060309, TTC19
+1 more
Single nucleotide variant
(intron variant)
Mitochondrial complex III deficiency nuclear type 1
GUncertain significance
LOC130060309, TTC19
+1 more
Single nucleotide variant
(intron variant)
Mitochondrial complex III deficiency nuclear type 1
+1 more
GConflicting classifications of pathogenicity
BCS1L
Single nucleotide variant
(synonymous variant +3 more)
Leigh syndrome
+3 more
GConflicting classifications of pathogenicity
UQCRB
(R105fs +1 more)
Deletion
(frameshift variant +2 more)
not provided
GConflicting classifications of pathogenicity
TTC19
Single nucleotide variant
not provided
+1 more
GUncertain significance
BCS1L
(G235R +2 more)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial complex III deficiency nuclear type 1
+2 more
GConflicting classifications of pathogenicity
BCS1L
(R90H)
Single nucleotide variant
(missense variant +3 more)
not provided
+1 more
GLikely pathogenic
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
(V205I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GConflicting classifications of pathogenicity
BCS1L
Single nucleotide variant
(synonymous variant +3 more)
GRACILE syndrome
+4 more
GConflicting classifications of pathogenicity
BCS1L
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
+3 more
GConflicting classifications of pathogenicity
TTC19
Single nucleotide variant
not specified
+1 more
GConflicting classifications of pathogenicity
ZSWIM7, TTC19
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GBenign/Likely benign
TTC19, ZSWIM7
Single nucleotide variant
(intron variant)
not specified
+1 more
GConflicting classifications of pathogenicity
TTC19, ZSWIM7
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
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
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
(T50A)
Single nucleotide variant
(missense variant +3 more)
Mitochondrial complex III deficiency nuclear type 1
GPathogenic
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
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