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Items: 47

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACMSD, AMER3
+391 more
Copy number loss
See cases
GPathogenic
ACMSD, AMER3
+336 more
Copy number loss
See cases
GPathogenic
CFC1, CFC1B
Copy number loss
See cases
GLikely benign
CFC1
(P167R)
Single nucleotide variant
(missense variant +1 more)
not specified
GBenign
CFC1
(W164S)
Single nucleotide variant
(missense variant +1 more)
not specified
GBenign
CFC1
(G162V)
Single nucleotide variant
(missense variant +1 more)
not specified
GBenign
CFC1
(P158Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GBenign
CFC1
(R157C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CFC1
(A136fs +2 more)
Deletion
(frameshift variant)
not specified
+2 more
GConflicting classifications of pathogenicity
CFC1
(F87L +1 more)
Single nucleotide variant
(synonymous variant +1 more)
Heterotaxy, visceral, 2, autosomal
GBenign
AMER3, ARHGEF4
+18 more
Copy number gain
See cases
GUncertain significance
CFC1
(A145T)
Single nucleotide variant
(synonymous variant +2 more)
not specified
+1 more
GBenign
CFC1
Duplication
(intron variant +1 more)
Heterotaxy, visceral, 2, autosomal
GPathogenic
CFC1
(R112C)
Single nucleotide variant
(missense variant +1 more)
Heterotaxy, visceral, 2, autosomal
GPathogenic
CFC1
(R87fs)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
CFC1
(A79T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CFC1
(R78W)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CFC1
Single nucleotide variant
(synonymous variant)
not specified
GBenign
CFC1
(E72K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CFC1
(E71Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
CFC1
(P70L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CFC1
Duplication
(inframe_insertion)
not specified
GUncertain significance
CFC1
(W68C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CFC1
(G59R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
CFC1
(R47Q)
Single nucleotide variant
(missense variant)
not specified
GBenign
CFC1
(H31R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CFC1
(K30fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
CFC1
Single nucleotide variant
(synonymous variant)
not specified
GBenign
CFC1
(N21H)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
CFC1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
ACOXL, ACTR3
+121 more
Copy number loss
not specified
GPathogenic
AMER3, ARHGEF4
+16 more
Copy number loss
not provided
GUncertain significance
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
EPB41L5, ERCC3
+120 more
Copy number gain
2q13q22.3 microduplication syndrome
GPathogenic
GPR39, IL1F10
+122 more
Copy number gain
not provided
GPathogenic
ACMSD, AMER3
+64 more
Copy number loss
not provided
GPathogenic
AMER3, AMMECR1L
+44 more
Copy number loss
See cases
GLikely pathogenic
AMER3, IMP4
+23 more
Copy number gain
not provided
GUncertain significance
AMER3, CFC1
+4 more
Deletion
Neurodevelopmental disorder
GUncertain significance
TUBA3E, PTPN18
+13 more
Copy number loss
not provided
GLikely pathogenic
ACMSD, C2orf27A
+486 more
Deletion
not provided
GLikely pathogenic
CCDC74B, CCDC93
+218 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
AMER3, ARHGEF4
+23 more
Copy number gain
See cases
GUncertain significance
CCDC115, CCDC74B
+11 more
Copy number gain
See cases
GUncertain significance
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
ACMSD, AMER3
+74 more
Copy number loss
See cases
GPathogenic
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