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Items: 1 to 100 of 501

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129935413, LOC129935414
+1097 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1703 more
Copy number gain
See cases
GPathogenic
ABCA12, ABCB6
+1687 more
Copy number gain
See cases
GPathogenic
AAMP, ABCA12
+1665 more
Copy number gain
See cases
GPathogenic
LOC126806461, LOC126806467
+1299 more
Copy number gain
See cases
GPathogenic
OR6B3, OTOS
+1148 more
Copy number gain
See cases
GPathogenic
AAMP, ABCB6
+986 more
Copy number gain
See cases
GPathogenic
BCS1L, ZNF142
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
BCS1L, LOC129935609
Single nucleotide variant
(5 prime UTR variant +1 more)
GRACILE syndrome
+3 more
GUncertain significance
BCS1L, LOC129935609
Single nucleotide variant
(5 prime UTR variant +1 more)
Mitochondrial complex III deficiency nuclear type 1
+2 more
GUncertain significance
BCS1L, LOC129935609
Single nucleotide variant
(5 prime UTR variant +1 more)
GRACILE syndrome
GUncertain significance
BCS1L, LOC129935609
Single nucleotide variant
(5 prime UTR variant +1 more)
GRACILE syndrome
GUncertain significance
BCS1L, LOC129935609
Single nucleotide variant
(5 prime UTR variant +1 more)
GRACILE syndrome
GUncertain significance
BCS1L, LOC129935609
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
BCS1L, LOC129935609
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GBenign
BCS1L
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GLikely benign
BCS1L
Single nucleotide variant
(5 prime UTR variant +2 more)
Pili torti-deafness syndrome
GLikely pathogenic
BCS1L
Single nucleotide variant
(5 prime UTR variant +2 more)
GRACILE syndrome
GUncertain significance
BCS1L
Single nucleotide variant
(5 prime UTR variant +2 more)
GRACILE syndrome
GLikely pathogenic
BCS1L
Single nucleotide variant
(5 prime UTR variant +2 more)
GRACILE syndrome
+2 more
GConflicting classifications of pathogenicity
BCS1L
Single nucleotide variant
(5 prime UTR variant +3 more)
Leigh syndrome
+2 more
GUncertain significance
BCS1L
Single nucleotide variant
(5 prime UTR variant +2 more)
Leigh syndrome
+2 more
GUncertain significance
BCS1L
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GBenign
BCS1L
Single nucleotide variant
(intron variant +2 more)
not provided
GLikely benign
BCS1L
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GBenign
BCS1L
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely benign
BCS1L
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
BCS1L
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely benign
BCS1L
Deletion
(5 prime UTR variant +2 more)
not provided
GLikely benign
BCS1L
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GBenign
BCS1L
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GBenign
BCS1L
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GBenign
BCS1L
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
BCS1L
Single nucleotide variant
(5 prime UTR variant +2 more)
Mitochondrial complex III deficiency nuclear type 1
+3 more
GConflicting classifications of pathogenicity
BCS1L
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
+3 more
GConflicting classifications of pathogenicity
BCS1L
(M1L)
Single nucleotide variant
(missense variant +4 more)
not provided
+1 more
GPathogenic/Likely pathogenic
BCS1L
(M1V)
Single nucleotide variant
(missense variant +4 more)
not provided
GPathogenic
BCS1L
(P2L)
Single nucleotide variant
(missense variant +3 more)
not provided
GUncertain significance
BCS1L
(S4L)
Single nucleotide variant
(missense variant +3 more)
not provided
GUncertain significance
BCS1L
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
BCS1L
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
BCS1L
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
BCS1L
(A18fs)
Deletion
(frameshift variant +3 more)
GRACILE syndrome
GLikely pathogenic
BCS1L
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
BCS1L
Single nucleotide variant
(synonymous variant +3 more)
not provided
GConflicting classifications of pathogenicity
BCS1L
(V23fs)
Duplication
(frameshift variant +3 more)
not provided
GPathogenic
BCS1L
Single nucleotide variant
(5 prime UTR variant +3 more)
not provided
GLikely benign
BCS1L
(A28V)
Single nucleotide variant
(missense variant +3 more)
not provided
GUncertain significance
BCS1L
(A32V)
Single nucleotide variant
(missense variant +3 more)
Inborn genetic diseases
GUncertain significance
BCS1L
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
BCS1L
(K34R)
Single nucleotide variant
(missense variant +3 more)
not provided
GUncertain significance
BCS1L
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
BCS1L
(G35R)
Single nucleotide variant
(missense variant +3 more)
Bjornstad syndrome with mild mitochondrial complex III deficiency
GPathogenic
BCS1L
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
BCS1L
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
BCS1L
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
BCS1L
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
BCS1L
(L38V)
Single nucleotide variant
(missense variant +3 more)
Leigh syndrome
+2 more
GUncertain significance
BCS1L
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
BCS1L
Single nucleotide variant
(synonymous variant +3 more)
GRACILE syndrome
+4 more
GConflicting classifications of pathogenicity
BCS1L
(R44W)
Single nucleotide variant
(missense variant +3 more)
not provided
GUncertain significance
BCS1L
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
BCS1L
(R45G)
Single nucleotide variant
(missense variant +3 more)
not provided
GLikely pathogenic
BCS1L
(R45C)
Single nucleotide variant
(missense variant +3 more)
not provided
+1 more
GPathogenic/Likely pathogenic
BCS1L
(R45H)
Single nucleotide variant
(missense variant +3 more)
not provided
+3 more
GConflicting classifications of pathogenicity
BCS1L
(M48V)
Single nucleotide variant
(missense variant +3 more)
not specified
+2 more
GConflicting classifications of pathogenicity
BCS1L
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
BCS1L
(T50A)
Single nucleotide variant
(missense variant +3 more)
Mitochondrial complex III deficiency nuclear type 1
GPathogenic
BCS1L
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
BCS1L
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
BCS1L
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
BCS1L
(R56*)
Single nucleotide variant
(nonsense +3 more)
not provided
+5 more
GPathogenic
BCS1L
(R56Q)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
BCS1L
(D57G)
Single nucleotide variant
(missense variant +3 more)
Mitochondrial complex III deficiency nuclear type 1
GLikely pathogenic
BCS1L
Single nucleotide variant
(synonymous variant +3 more)
not specified
+4 more
GConflicting classifications of pathogenicity
BCS1L
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
BCS1L
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
BCS1L
(W62C)
Single nucleotide variant
(missense variant +3 more)
not provided
GUncertain significance
BCS1L
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
BCS1L
(S65R)
Single nucleotide variant
(missense variant +3 more)
Mitochondrial complex III deficiency nuclear type 1
+3 more
GUncertain significance
BCS1L
Single nucleotide variant
(synonymous variant +3 more)
not provided
+3 more
GConflicting classifications of pathogenicity
BCS1L
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
BCS1L
(R69C)
Single nucleotide variant
(missense variant +3 more)
not provided
+4 more
GConflicting classifications of pathogenicity
BCS1L
(R69H)
Single nucleotide variant
(missense variant +3 more)
not provided
+3 more
GUncertain significance
BCS1L
(H70R)
Single nucleotide variant
(missense variant +3 more)
not provided
GUncertain significance
BCS1L
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
BCS1L
(R73fs)
Deletion
(frameshift variant +3 more)
not provided
GPathogenic
BCS1L
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
BCS1L
(R73G)
Single nucleotide variant
(missense variant +3 more)
not provided
GUncertain significance
BCS1L
(R73C)
Single nucleotide variant
(missense variant +3 more)
not provided
+2 more
GConflicting classifications of pathogenicity
BCS1L
(R73H)
Single nucleotide variant
(missense variant +3 more)
not provided
GUncertain significance
BCS1L
Single nucleotide variant
(synonymous variant +3 more)
not provided
GUncertain significance
BCS1L
(S78G)
Single nucleotide variant
(missense variant +3 more)
not provided
+3 more
GPathogenic
BCS1L
(S78I)
Single nucleotide variant
(missense variant +3 more)
not provided
GLikely pathogenic
BCS1L
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
BCS1L
(E80*)
Single nucleotide variant
(nonsense +3 more)
not provided
GPathogenic
BCS1L
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
BCS1L
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
BCS1L
(S82*)
Single nucleotide variant
(nonsense +3 more)
not provided
+3 more
GPathogenic/Likely pathogenic
BCS1L
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
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