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Links from Gene

Items: 74

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SOX30
(P269T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SOX30
(P21S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SOX30
(Q430H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SOX30
(L418P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOX30
(R285S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SOX30
(V24L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SOX30
(P84S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SOX30
(I411M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SOX30
(R350G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SOX30
(R328W +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SOX30
(S183T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SOX30
(T168I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SOX30
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SOX30
(A45E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SOX30
(A45T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SOX30
(R259K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SOX30
(H702N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SOX30
(E89Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SOX30
(E440V +1 more)
Single nucleotide variant
(missense variant +1 more)
See cases
GUncertain significance
SOX30
(A91P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SOX30
(F178L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SOX30
(R609G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SOX30
(N692Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SOX30
(S163F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SOX30
(S419R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOX30
(G277E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SOX30
(S244G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SOX30
(V236A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SOX30
(L235P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SOX30
(P314L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SOX30
(Q486H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SOX30
(M645I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOX30
(L131R)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
SOX30
(A66V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SOX30
(P123T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SOX30
(P259A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SOX30
(P290T +1 more)
Single nucleotide variant
(intron variant +1 more)
not specified
GUncertain significance
SOX30
(S677N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SOX30
(Q498R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SOX30
(V420A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOX30
(A92T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SOX30
(A60G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SOX30
(A205V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SOX30
(S300F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SOX30
(S139L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOX30
(L302R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SOX30
(A86T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SOX30
(P123S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SOX30
(R13L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SOX30
(T266R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PTTG1, UBLCP1
+29 more
Copy number loss
not provided
GLikely pathogenic
ADAM19, ADRA1B
+98 more
Copy number gain
not provided
GPathogenic
ADAM19, ADAMTS2
+222 more
Copy number gain
Hunter-McAlpine craniosynostosis
GPathogenic
ADAM19, ADRA1B
+33 more
Copy number loss
not provided
Gnot provided
ADAM19, ADRA1B
+51 more
Copy number loss
not provided
GPathogenic
SOX30
(S212C +1 more)
Single nucleotide variant
(missense variant +1 more)
Male infertility
GLikely pathogenic
SOX30
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
SOX30
(Q258P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
SOX30
(L235P +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
SOX30
(S255L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
SOX30
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
C5orf52, ADAM19
+51 more
Copy number gain
not provided
GPathogenic
C5orf52, SOX30
Copy number loss
not provided
GLikely benign
LSM11, C5orf52
+4 more
Copy number gain
not provided
GUncertain significance
DHFR, DHX29
+738 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ARL10, ARL14EPL
+511 more
Copy number gain
not provided
GLikely benign
HRH2, HSD17B4
+520 more
Copy number gain
See cases
GPathogenic
ADAM19, ADRA1B
+50 more
Copy number loss
See cases
GPathogenic
ADAM19, ADRA1B
+295 more
Copy number loss
See cases
GPathogenic
LOC129995440, LOC129995441
+864 more
Copy number gain
See cases
GPathogenic
ADAM19, ADRA1B
+280 more
Copy number loss
See cases
GPathogenic
LOC132089226, LOC132089227
+1167 more
Copy number gain
See cases
GPathogenic
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