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Items: 76

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCB10, ACBD3
+1428 more
Copy number gain
See cases
GPathogenic
LOC120908923, LOC120947224
+1352 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+1326 more
Copy number gain
See cases
GPathogenic
LOC129932855, LOC129932856
+1168 more
Copy number gain
See cases
GPathogenic
TARBP1, TBCE
+968 more
Copy number gain
See cases
GPathogenic
LINC02765, LINC02768
+955 more
Copy number gain
See cases
GPathogenic
LOC440742, LYPD8
+955 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+953 more
Copy number gain
See cases
GPathogenic
LOC129932825, LOC129932826
+952 more
Copy number gain
See cases
GPathogenic
LOC129932658, LOC129932659
+950 more
Copy number gain
See cases
GPathogenic
LOC126806053, LOC126806054
+870 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+313 more
Copy number loss
See cases
GPathogenic
ABCB10, ACTA1
+656 more
Copy number gain
See cases
GPathogenic
AGT, ARV1
+66 more
Copy number gain
See cases
GUncertain significance
ACTN2, AGT
+378 more
Copy number loss
See cases
GPathogenic
ACTN2, AGT
+369 more
Copy number loss
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
GPathogenic
SPRTN
(T42S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SPRTN
(S80N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SPRTN
(I90L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SPRTN
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SPRTN
(Y117C)
Single nucleotide variant
(missense variant +1 more)
Progeroid features-hepatocellular carcinoma predisposition syndrome
GPathogenic
SPRTN
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SPRTN
(D126G)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SPRTN
(N148S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SPRTN
Single nucleotide variant
(intron variant)
Progeroid features-hepatocellular carcinoma predisposition syndrome
+1 more
GBenign
SPRTN
(D114G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SPRTN
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SPRTN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPRTN
(I167V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SPRTN
(A226P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SPRTN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPRTN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SPRTN
(G197fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
SPRTN
(K241fs)
Deletion
(3 prime UTR variant +1 more)
Progeroid features-hepatocellular carcinoma predisposition syndrome
GPathogenic
SPRTN
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
SPRTN
(I273M)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
SPRTN
(P296L)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign
SPRTN
(V302M)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
SPRTN
(H314Q)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
SPRTN
(S321I)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
SPRTN
(V335I)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
SPRTN
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
SPRTN
(R351G)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
SPRTN
(R370K)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
SPRTN
(N381H)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
SPRTN
(K424R)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
SPRTN
(K424N)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
SPRTN
(Q426K)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
SPRTN
(P434L)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
SPRTN
(T439S)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
SPRTN
(T439I)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
SPRTN
(E465K)
Single nucleotide variant
(3 prime UTR variant +1 more)
SPRTN-related disorder
GUncertain significance
ACTN2, AGT
+45 more
Copy number loss
not provided
GPathogenic
ABCB10, ACTA1
+137 more
Copy number gain
not provided
GPathogenic
ABCB10, ACBD3
+113 more
Copy number gain
not provided
Gnot provided
ABCB10, ACBD3
+185 more
Copy number gain
not provided
GPathogenic
ABCB10, ACTA1
+65 more
Copy number gain
not provided
GLikely pathogenic
COA6, COG2
+381 more
Copy number gain
See cases
GPathogenic
ABCB10, ACTA1
+36 more
Copy number loss
not specified
GPathogenic
ABCB10, ACBD3
+55 more
Copy number loss
not specified
GLikely pathogenic
ABCB10, ACTA1
+21 more
Duplication
Actin accumulation myopathy
GUncertain significance
SPRTN, TARBP1
+34 more
Copy number loss
not provided
GPathogenic
FCGR3A, LCE3C
+956 more
Duplication
Parathyroid carcinoma
+2 more
GUncertain significance
CHML, CHRM3
+250 more
Copy number gain
See cases
GPathogenic
C1orf35, C1orf74
+320 more
Copy number gain
See cases
GPathogenic
ERO1B, EXOC8
+59 more
Copy number gain
not provided
GPathogenic
FBXO28, ACBD3
+83 more
Copy number loss
not provided
GPathogenic
CCDC185, NTPCR
+127 more
Copy number gain
not provided
GPathogenic
C4BPB, CACNA1S
+433 more
Copy number gain
not provided
GPathogenic
ABCB10, ACTA1
+145 more
Copy number gain
not provided
GPathogenic
H2BC26, H3-3A
+213 more
Copy number gain
not provided
GPathogenic
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
ABCB10, ACBD3
+184 more
Copy number gain
See cases
GPathogenic
EXOC8, GNPAT
+1 more
Copy number gain
See cases
GLikely benign
AVPR1B, B3GALNT2
+393 more
Copy number gain
See cases
GPathogenic
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