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Items: 66

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
LOC129389795, LOC129389796
+636 more
Copy number gain
See cases
GPathogenic
ABCA13, ADCY1
+426 more
Copy number loss
See cases
GPathogenic
ABCA13, ADCY1
+200 more
Copy number loss
See cases
GPathogenic
GRB10
(T591K +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRB10
(T495M +4 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GRB10
Single nucleotide variant
(synonymous variant)
GRB10-related disorder
GBenign
GRB10
(F496I +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRB10
(Q451E +4 more)
Single nucleotide variant
(missense variant)
GRB10-related disorder
GLikely benign
GRB10
Single nucleotide variant
(synonymous variant)
not provided
GBenign
GRB10
Single nucleotide variant
(intron variant)
GRB10-related disorder
GBenign
GRB10
(R517Q +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRB10
Single nucleotide variant
(intron variant)
GRB10-related disorder
GLikely benign
GRB10
(A403T +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRB10
Variation
(no sequence alteration)
not provided
GBenign
GRB10
(A449V +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRB10
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GRB10
Single nucleotide variant
(intron variant)
GRB10-related disorder
GLikely benign
GRB10
Single nucleotide variant
(synonymous variant)
GRB10-related disorder
GBenign
GRB10
(R329G +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRB10
Single nucleotide variant
(synonymous variant)
GRB10-related disorder
GLikely benign
GRB10
(H314Y +4 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GRB10
(I286V +4 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GRB10
(S306T +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GRB10
(L244V +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GRB10
Single nucleotide variant
(synonymous variant +1 more)
GRB10-related disorder
GLikely benign
GRB10
(V316I +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRB10
Single nucleotide variant
(synonymous variant)
GRB10-related disorder
GLikely benign
GRB10
(R222T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRB10
(L135V +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRB10
(R229G +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRB10
(P210L +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GRB10
(P194L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRB10
(T155M +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRB10
(V202L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRB10
(P201T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRB10
(P152A +3 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
GRB10
(P200A +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRB10
(S199T +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRB10
(P148L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRB10
(R160H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRB10
Single nucleotide variant
(synonymous variant)
GRB10-related disorder
GLikely benign
GRB10
(R111H +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRB10
(P128T +3 more)
Single nucleotide variant
(missense variant)
GRB10-related disorder
GBenign
GRB10
(R125C +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRB10
(Q84E +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRB10
(G121A +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GRB10
(S13G +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GRB10
Single nucleotide variant
(synonymous variant +1 more)
GRB10-related disorder
GLikely benign
GRB10
(N44S)
Single nucleotide variant
(missense variant +2 more)
not provided
GBenign
GRB10
(R41Q)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GRB10
(A37T)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GRB10
(P36L)
Single nucleotide variant
(missense variant +2 more)
not provided
GBenign
GRB10
(A31T)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GRB10
(Q22R)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
GRB10
Single nucleotide variant
(intron variant)
GRB10-related disorder
GLikely benign
COBL, DDC
+1 more
Copy number loss
not provided
GUncertain significance
AASS, ABCA13
+896 more
Copy number loss
See cases
GUncertain significance
CACNA2D1, CADPS2
+896 more
Complex
Ring chromosome 7
GPathogenic
GRB10
Copy number gain
not provided
GUncertain significance
PRSS1, PRSS37
+896 more
Copy number gain
not provided
GPathogenic
AVL9, AZGP1
+896 more
Copy number gain
See cases
GPathogenic
MCM7, MDFIC
+896 more
Copy number gain
See cases
GPathogenic
RP9, SCIN
+196 more
Copy number gain
See cases
GPathogenic
AASS, ABCA13
+678 more
Deletion
Pleomorphic xanthoastrocytoma
GPathogenic
ARMC10, ASB4
+504 more
Inversion
Childhood apraxia of speech
GPathogenic
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