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Items: 94

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
AMMECR1L, BIN1
+125 more
Copy number gain
See cases
GUncertain significance
CCDC115, CCDC74B
+23 more
Copy number gain
See cases
GBenign
CCDC115, CCDC74B
+22 more
Copy number gain
See cases
GBenign
CCDC115, CCDC74B
+22 more
Copy number loss
See cases
GUncertain significance
CCDC115, CCDC74B
+23 more
Copy number gain
See cases
GBenign
CCDC115, CCDC74B
+19 more
Copy number loss
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
GPathogenic
CCDC115, IMP4
+16 more
Copy number loss
See cases
GUncertain significance
CCDC115
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
CCDC115
(A172V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
CCDC115
(Q169H +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
CCDC115
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
CCDC115
(R161W +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CCDC115
(R154* +2 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
CCDC115
(R149C +2 more)
Single nucleotide variant
(missense variant +1 more)
CCDC115-CDG
GUncertain significance
CCDC115
(A152T +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CCDC115
(I143V +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CCDC115
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign/Likely benign
CCDC115
(L142P +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CCDC115
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CCDC115
(Q128E +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
CCDC115
(R127H +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CCDC115
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CCDC115
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CCDC115
(R104C +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CCDC115
(R102Q +2 more)
Single nucleotide variant
(missense variant +1 more)
CCDC115-CDG
+1 more
GUncertain significance
CCDC115
(R102W +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CCDC115
Deletion
(intron variant)
not provided
GLikely benign
CCDC115
(F73fs +2 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
CCDC115
Single nucleotide variant
(intron variant)
not provided
GBenign
CCDC115
Single nucleotide variant
(intron variant)
not provided
GBenign
CCDC115
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CCDC115
(S67R +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
CCDC115
(A63T +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
CCDC115
(E56Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CCDC115
(M41K +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CCDC115
(L34fs +2 more)
Indel
(frameshift variant +1 more)
not provided
GUncertain significance
CCDC115
(R46G +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CCDC115
(R38C +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CCDC115
(A40T +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CCDC115
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CCDC115
(L31F)
Single nucleotide variant
(missense variant +2 more)
not provided
GBenign
CCDC115
(L31S)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GPathogenic
CCDC115
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
CCDC115
(L18F)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
CCDC115
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
CCDC115
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
CCDC115, LOC129934769
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
CCDC115, LOC129934769
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
CCDC115, LOC129934769
(D11Y)
Single nucleotide variant
(missense variant +2 more)
Congenital disorders of glycosylation type II
+1 more
GPathogenic
CCDC115, LOC129934769
(E9K)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
LOC129934769, CCDC115
(M1V)
Single nucleotide variant
(missense variant +3 more)
not provided
GConflicting classifications of pathogenicity
CCDC115, LOC129934769
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
CCDC115
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
CCDC115
Single nucleotide variant
not provided
GBenign
CCDC115
Deletion
not provided
GPathogenic
ACOXL, ACTR3
+121 more
Copy number loss
not specified
GPathogenic
CCDC115, CCDC74B
+6 more
Copy number gain
not provided
GUncertain significance
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
CCDC115
Deletion
not provided
GPathogenic
CCDC115
Duplication
not provided
GUncertain significance
GPR39, IL1F10
+122 more
Copy number gain
not provided
GPathogenic
ACMSD, AMER3
+64 more
Copy number loss
not provided
GPathogenic
CCDC115, IMP4
Deletion
not provided
GPathogenic
AMER3, AMMECR1L
+44 more
Copy number loss
See cases
GLikely pathogenic
CCDC115, CCDC74B
+6 more
Copy number gain
not provided
GUncertain significance
CCDC115, CCDC74B
+6 more
Copy number gain
not provided
GUncertain significance
CCDC115, CCDC74B
+6 more
Copy number loss
not provided
GUncertain significance
CCDC115, IMP4
+1 more
Copy number gain
not provided
GUncertain significance
CCDC115, CCDC74B
+7 more
Copy number gain
not provided
GUncertain significance
IMP4, MZT2B
+6 more
Copy number gain
not provided
GUncertain significance
CCDC115, CCDC74B
+6 more
Copy number gain
not provided
GUncertain significance
CCDC115, CCDC74B
+6 more
Copy number gain
not provided
GUncertain significance
AMER3, IMP4
+23 more
Copy number gain
not provided
GUncertain significance
CCDC115, IMP4
+4 more
Copy number loss
not provided
GUncertain significance
CCDC115, IMP4
+4 more
Copy number loss
not provided
GUncertain significance
CCDC115, CCDC74B
+6 more
Copy number loss
not provided
GUncertain significance
CCDC115, IMP4
+4 more
Copy number loss
not provided
GUncertain significance
TUBA3E, PTPN18
+13 more
Copy number loss
not provided
GLikely pathogenic
CCDC115, IMP4
+1 more
Copy number loss
not provided
GUncertain significance
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
CCDC115, IMP4
+4 more
Copy number loss
See cases
GUncertain significance
ACMSD, AMER3
+74 more
Copy number loss
See cases
GPathogenic
PTPN18, TUBA3E
+6 more
Copy number gain
See cases
GBenign
CCDC115, IMP4
+4 more
Deletion
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
CCDC115
Copy number gain
Premature ovarian failure
GBenign
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