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Items: 1 to 100 of 440

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAMTS12, ADAMTS16
+697 more
Copy number loss
See cases
GPathogenic
ACTBL2, ADAMTS12
+1445 more
Copy number gain
See cases
GPathogenic
ADAMTS12, ADAMTS16
+953 more
Copy number gain
See cases
GPathogenic
LINC02116, LINC02120
+696 more
Copy number gain
See cases
GPathogenic
ADAMTS12, ADAMTS16
+952 more
Copy number gain
See cases
GPathogenic
ADAMTS12, ADAMTS16
+657 more
Copy number loss
See cases
GPathogenic
ADAMTS12, ADAMTS16
+530 more
Copy number gain
See cases
GPathogenic
AGXT2, LOC121725200
+385 more
Copy number gain
See cases
GLikely pathogenic
ADAMTS12, AGXT2
+116 more
Copy number loss
See cases
GPathogenic
ADAMTS12, AGXT2
+128 more
Copy number loss
See cases
GLikely pathogenic
AMACR, C1QTNF3
+17 more
Copy number gain
Autism spectrum disorder
GUncertain significance
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +1 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(3 prime UTR variant +1 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +1 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +1 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
AMACR, C1QTNF3-AMACR
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Oculocutaneous albinism
+1 more
GLikely benign
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +1 more)
Alpha-methylacyl-CoA racemase deficiency
GLikely benign
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +1 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +1 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +1 more)
Alpha-methylacyl-CoA racemase deficiency
GLikely benign
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +1 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +1 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +1 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +1 more)
Alpha-methylacyl-CoA racemase deficiency
GBenign
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(3 prime UTR variant +1 more)
Alpha-methylacyl-CoA racemase deficiency
GLikely benign
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +1 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +1 more)
Alpha-methylacyl-CoA racemase deficiency
GBenign
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +1 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +1 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +1 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +1 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
C1QTNF3-AMACR, AMACR
Single nucleotide variant
(non-coding transcript variant +1 more)
Alpha-methylacyl-CoA racemase deficiency
GLikely benign
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +1 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +1 more)
Alpha-methylacyl-CoA racemase deficiency
GLikely benign
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +1 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
C1QTNF3-AMACR, AMACR
Single nucleotide variant
(non-coding transcript variant +1 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
AMACR, C1QTNF3-AMACR
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GLikely benign
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +1 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
AMACR, C1QTNF3-AMACR
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Oculocutaneous albinism
+2 more
GBenign/Likely benign
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +1 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
C1QTNF3-AMACR, SLC45A2
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Oculocutaneous albinism
+2 more
GLikely benign
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +1 more)
Alpha-methylacyl-CoA racemase deficiency
+1 more
GLikely benign
AMACR, C1QTNF3-AMACR
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Alpha-methylacyl-CoA racemase deficiency
+2 more
GBenign/Likely benign
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +1 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
AMACR, C1QTNF3-AMACR
(I392V)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
AMACR, C1QTNF3-AMACR
(P387L)
Single nucleotide variant
(non-coding transcript variant +2 more)
Seizure
GUncertain significance
AMACR, C1QTNF3-AMACR
(L385V)
Single nucleotide variant
(non-coding transcript variant +2 more)
Alpha-methylacyl-CoA racemase deficiency
+1 more
GBenign
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
AMACR, C1QTNF3-AMACR
+1 more
Single nucleotide variant
(non-coding transcript variant +2 more)
Oculocutaneous albinism
+3 more
GBenign/Likely benign
AMACR, C1QTNF3-AMACR
+1 more
Single nucleotide variant
(non-coding transcript variant +2 more)
Congenital bile acid synthesis defect 4
+3 more
GBenign/Likely benign
AMACR, C1QTNF3-AMACR
Duplication
(non-coding transcript variant +2 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +2 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +2 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +2 more)
Alpha-methylacyl-CoA racemase deficiency
GLikely benign
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +2 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +2 more)
Alpha-methylacyl-CoA racemase deficiency
+1 more
GUncertain significance
AMACR, C1QTNF3-AMACR
+1 more
Single nucleotide variant
(non-coding transcript variant +2 more)
Oculocutaneous albinism
+2 more
GBenign/Likely benign
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +3 more)
not provided
GUncertain significance
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +3 more)
Alpha-methylacyl-CoA racemase deficiency
GLikely benign
AMACR, C1QTNF3-AMACR
(K379N)
Single nucleotide variant
(non-coding transcript variant +3 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
AMACR, C1QTNF3-AMACR
(N376Y)
Single nucleotide variant
(non-coding transcript variant +2 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
AMACR, C1QTNF3-AMACR
(S375G)
Single nucleotide variant
(non-coding transcript variant +2 more)
Alpha-methylacyl-CoA racemase deficiency
+1 more
GUncertain significance
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +2 more)
Alpha-methylacyl-CoA racemase deficiency
GLikely benign
AMACR, C1QTNF3-AMACR
(I372V)
Single nucleotide variant
(non-coding transcript variant +2 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
AMACR, C1QTNF3-AMACR
(D370G)
Single nucleotide variant
(non-coding transcript variant +2 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
AMACR, C1QTNF3-AMACR
(D370H)
Single nucleotide variant
(non-coding transcript variant +2 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
AMACR, C1QTNF3-AMACR
(Q366R)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
+1 more
GUncertain significance
AMACR, C1QTNF3-AMACR
(E362K)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
AMACR, C1QTNF3-AMACR
(R361H)
Single nucleotide variant
(non-coding transcript variant +2 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
AMACR, C1QTNF3-AMACR
(R361C)
Single nucleotide variant
(non-coding transcript variant +2 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
AMACR, C1QTNF3-AMACR
(F357S)
Single nucleotide variant
(non-coding transcript variant +2 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
C1QTNF3-AMACR, AMACR
(I353L)
Single nucleotide variant
(non-coding transcript variant +2 more)
AMACR-related disorder
GUncertain significance
AMACR, C1QTNF3-AMACR
(E351K)
Single nucleotide variant
(non-coding transcript variant +2 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
AMACR, C1QTNF3-AMACR
(H349D)
Single nucleotide variant
(non-coding transcript variant +2 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
AMACR, C1QTNF3-AMACR
(E348fs)
Duplication
(non-coding transcript variant +2 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
AMACR, C1QTNF3-AMACR
(I346V)
Single nucleotide variant
(non-coding transcript variant +2 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +2 more)
Alpha-methylacyl-CoA racemase deficiency
GLikely benign
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
AMACR, C1QTNF3-AMACR
(D343Y)
Single nucleotide variant
(non-coding transcript variant +2 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +2 more)
Alpha-methylacyl-CoA racemase deficiency
GLikely benign
AMACR, C1QTNF3-AMACR
(R342T)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +2 more)
Alpha-methylacyl-CoA racemase deficiency
GLikely benign
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +2 more)
Alpha-methylacyl-CoA racemase deficiency
+1 more
GConflicting classifications of pathogenicity
AMACR, C1QTNF3-AMACR
(P335S)
Single nucleotide variant
(non-coding transcript variant +2 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +2 more)
Alpha-methylacyl-CoA racemase deficiency
GLikely benign
AMACR, C1QTNF3-AMACR
(T334I)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
+1 more
GUncertain significance
AMACR, C1QTNF3-AMACR
(N333fs)
Insertion
(non-coding transcript variant +2 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
AMACR, C1QTNF3-AMACR
(L332V)
Single nucleotide variant
(non-coding transcript variant +2 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +2 more)
AMACR-related disorder
GLikely benign
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +2 more)
Alpha-methylacyl-CoA racemase deficiency
GLikely benign
AMACR, C1QTNF3-AMACR
(A328V)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GUncertain significance
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +2 more)
Alpha-methylacyl-CoA racemase deficiency
GLikely benign
AMACR, C1QTNF3-AMACR
(R326fs)
Duplication
(non-coding transcript variant +2 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
AMACR, C1QTNF3-AMACR
(R326C)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +2 more)
Alpha-methylacyl-CoA racemase deficiency
GLikely benign
AMACR, C1QTNF3-AMACR
(V323L)
Single nucleotide variant
(non-coding transcript variant +2 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
AMACR, C1QTNF3-AMACR
(V323M)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
AMACR, C1QTNF3-AMACR
Single nucleotide variant
(non-coding transcript variant +2 more)
Alpha-methylacyl-CoA racemase deficiency
+1 more
GLikely benign
AMACR, C1QTNF3-AMACR
(D322V)
Single nucleotide variant
(non-coding transcript variant +2 more)
Alpha-methylacyl-CoA racemase deficiency
GUncertain significance
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