U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 521

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDC146, CCDC201
+4735 more
Copy number loss
See cases
GPathogenic
LOC129998995, LOC129998996
+2212 more
Copy number gain
See cases
GPathogenic
LOC129999548, LOC129999549
+1547 more
Copy number gain
See cases
GPathogenic
CADPS2, CALD1
+1380 more
Copy number gain
See cases
GPathogenic
ABCB8, ABCF2
+1176 more
Copy number gain
See cases
GPathogenic
TMEM139-AS1, TMEM140
+1052 more
Copy number gain
See cases
GPathogenic
MIR5707, MIR595
+1046 more
Copy number gain
See cases
GPathogenic
LOC123956245, LOC123956246
+1025 more
Copy number gain
See cases
GPathogenic
LOC285889, LOC349160
+1025 more
Copy number gain
See cases
GPathogenic
ABCB8, ABCF2
+1019 more
Copy number gain
See cases
GPathogenic
LOC129999467, LOC129999468
+944 more
Copy number loss
See cases
GPathogenic
LOC129999526, LOC129999527
+908 more
Copy number gain
See cases
GPathogenic
CTAGE4, CTAGE6
+888 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
ABCB8, ABCF2
+847 more
Copy number gain
Neurodevelopmental disorder
GLikely pathogenic
LOC129999649, LOC129999650
+737 more
Copy number loss
See cases
GPathogenic
LOC129389950, LOC129999513
+707 more
Copy number loss
See cases
GPathogenic
LOC129389931, LOC129389932
+573 more
Copy number loss
See cases
GPathogenic
TRC-GCA22-1, TRC-GCA23-1
+540 more
Copy number loss
See cases
GPathogenic
LOC129999578, LOC129999579
+538 more
Copy number loss
See cases
GLikely pathogenic
ABCB8, ABCF2
+533 more
Copy number loss
See cases
GPathogenic
ATG9B, ATP6V0E2
+473 more
Copy number loss
See cases
GPathogenic
LOC129389937, LOC129389938
+526 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+526 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+407 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+375 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+351 more
Copy number loss
See cases
GPathogenic
LOC129999684, LOC129999685
+315 more
Copy number gain
See cases
GPathogenic
ACTR3B, BLACE
+271 more
Copy number loss
See cases
GPathogenic
RBM33, RBM33-DT
+226 more
Copy number loss
See cases
GPathogenic
LOC129999707, LOC129999708
+225 more
Copy number gain
See cases
GPathogenic
ACTR3B, BLACE
+190 more
Deletion
Autism
GLikely pathogenic
ACTR3B, BLACE
+207 more
Copy number loss
See cases
GPathogenic
BLACE, CNPY1
+205 more
Copy number loss
See cases
GPathogenic
BLACE, CNPY1
+204 more
Copy number loss
See cases
GPathogenic
BLACE, CNPY1
+205 more
Copy number loss
See cases
GPathogenic
BLACE, CNPY1
+195 more
Copy number loss
See cases
GPathogenic
BLACE, CNPY1
+193 more
Copy number loss
Holoprosencephaly 3
GPathogenic
BLACE, CNPY1
+186 more
Copy number loss
See cases
GPathogenic
LOC123956282, LOC123956283
+173 more
Copy number loss
See cases
GPathogenic
ESYT2, INSIG1
+161 more
Copy number loss
See cases
GPathogenic
CNPY1, DNAJB6
+156 more
Copy number gain
See cases
GLikely pathogenic
CNPY1, DNAJB6
+150 more
Copy number loss
See cases
GPathogenic
DNAJB6, DYNC2I1
+148 more
Copy number loss
See cases
GPathogenic
LINC00244, LMBR1
+22 more
Duplication
Triphalangeal thumb-polysyndactyly syndrome
GPathogenic
RNF32, LMBR1
(F229L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LMBR1, RNF32
(N241T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LMBR1, RNF32
(D252N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LMBR1, RNF32
(C269R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
RNF32, LMBR1
(V308M)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
LMBR1, RNF32
(R313H)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
LMBR1, RNF32
(V339M)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
LMBR1, RNF32
(K357N)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
LMBR1
Single nucleotide variant
(3 prime UTR variant)
Polydactyly of a triphalangeal thumb
GBenign
LMBR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Polydactyly of a triphalangeal thumb
GUncertain significance
LMBR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Polydactyly of a triphalangeal thumb
GUncertain significance
LMBR1
Duplication
(3 prime UTR variant +1 more)
Triphalangeal thumb-polysyndactyly syndrome
GBenign
LMBR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Polydactyly of a triphalangeal thumb
GUncertain significance
LMBR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Polydactyly of a triphalangeal thumb
GBenign
LMBR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Polydactyly of a triphalangeal thumb
GBenign
LMBR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Polydactyly of a triphalangeal thumb
GUncertain significance
LMBR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Polydactyly of a triphalangeal thumb
GBenign
LMBR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Polydactyly of a triphalangeal thumb
GUncertain significance
LMBR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Polydactyly of a triphalangeal thumb
GUncertain significance
LMBR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Polydactyly of a triphalangeal thumb
GUncertain significance
LMBR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Polydactyly of a triphalangeal thumb
GBenign
LMBR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Polydactyly of a triphalangeal thumb
GUncertain significance
LMBR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Polydactyly of a triphalangeal thumb
GUncertain significance
LMBR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Polydactyly of a triphalangeal thumb
GBenign
LMBR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Polydactyly of a triphalangeal thumb
GUncertain significance
LMBR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Polydactyly of a triphalangeal thumb
GBenign
LMBR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Polydactyly of a triphalangeal thumb
GBenign
LMBR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Polydactyly of a triphalangeal thumb
GBenign
LMBR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Polydactyly of a triphalangeal thumb
GUncertain significance
LMBR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Polydactyly of a triphalangeal thumb
GUncertain significance
LMBR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Polydactyly of a triphalangeal thumb
GBenign
LMBR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Polydactyly of a triphalangeal thumb
GUncertain significance
LMBR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Polydactyly of a triphalangeal thumb
GUncertain significance
LMBR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Polydactyly of a triphalangeal thumb
GUncertain significance
LMBR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Polydactyly of a triphalangeal thumb
GBenign
LMBR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Polydactyly of a triphalangeal thumb
GUncertain significance
LMBR1
Single nucleotide variant
(non-coding transcript variant +1 more)
Polydactyly of a triphalangeal thumb
GBenign
LMBR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Polydactyly of a triphalangeal thumb
GUncertain significance
LMBR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Polydactyly of a triphalangeal thumb
GBenign
LMBR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Polydactyly of a triphalangeal thumb
GUncertain significance
LMBR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Polydactyly of a triphalangeal thumb
GBenign
LMBR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Polydactyly of a triphalangeal thumb
GUncertain significance
LMBR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Polydactyly of a triphalangeal thumb
GBenign
LMBR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Polydactyly of a triphalangeal thumb
GBenign
LMBR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Polydactyly of a triphalangeal thumb
GUncertain significance
LMBR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Polydactyly of a triphalangeal thumb
GUncertain significance
LMBR1
Single nucleotide variant
(non-coding transcript variant +1 more)
Polydactyly of a triphalangeal thumb
GBenign
LMBR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Polydactyly of a triphalangeal thumb
GBenign
LMBR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Polydactyly of a triphalangeal thumb
GBenign
LMBR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Polydactyly of a triphalangeal thumb
GUncertain significance
LMBR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Polydactyly of a triphalangeal thumb
GUncertain significance
LMBR1
Single nucleotide variant
(non-coding transcript variant +1 more)
Polydactyly of a triphalangeal thumb
GBenign
LMBR1
Duplication
(3 prime UTR variant +1 more)
Triphalangeal thumb-polysyndactyly syndrome
GBenign
LMBR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Polydactyly of a triphalangeal thumb
GUncertain significance
LMBR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Polydactyly of a triphalangeal thumb
GUncertain significance
LMBR1
Single nucleotide variant
(3 prime UTR variant +1 more)
Polydactyly of a triphalangeal thumb
GUncertain significance
Format
Items per page
Sort by
Choose Destination