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Items: 60

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130006570, LOC130006571
+474 more
Copy number loss
See cases
GPathogenic
KBTBD3, KDM4D
+528 more
Copy number loss
See cases
GPathogenic
LOC101929174, LOC102723838
+378 more
Copy number loss
See cases
GPathogenic
NOX4
(Y512C +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NOX4
(R430C +6 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
NOX4
(V398I +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NOX4
(F385L +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NOX4
(F459I +6 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NOX4
(L418V +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NOX4
Single nucleotide variant
(intron variant)
not provided
GBenign
NOX4
(S327Y +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NOX4
(T361A +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NOX4
(V321I +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NOX4
(R260I +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NOX4
(M291V +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NOX4
(R230W +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NOX4
(E272K +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NOX4
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NOX4
(S264A +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NOX4
(W262C +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NOX4
(W212C +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NOX4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NOX4
(K189N +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NOX4
(L132F +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NOX4
(T119I +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CHORDC1, DISC1FP1
+17 more
Copy number loss
See cases
GUncertain significance
NOX4
(L146P +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NOX4
(V143A +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NOX4
(V143L +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NOX4
(F82I +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NOX4
(V118M +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NOX4
(F125C +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NOX4
(L23F +4 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
NOX4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NOX4
(Q63R +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NOX4
(T4A +4 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NOX4
(P95S +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NOX4
(H20Y +2 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GLikely benign
NOX4
Duplication
(inframe_insertion +1 more)
not provided
GBenign
NOX4
(K15E)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
NOX4
(A10T)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
NOX4
(R6K)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
AMOTL1, ANGPTL5
+93 more
Copy number loss
not provided
GPathogenic
MAML2, MAP3K11
+955 more
Copy number gain
MISSED ABORTION
GPathogenic
C11orf54, CCDC81
+39 more
Copy number loss
not specified
GLikely pathogenic
AMOTL1, ANKRD42
+66 more
Copy number loss
not specified
GPathogenic
AMOTL1, ANKRD42
+72 more
Copy number loss
not specified
GPathogenic
AASDHPPT, ACAT1
+182 more
Copy number loss
not provided
GUncertain significance
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
FOLH1B, NOX4
Copy number loss
not provided
GUncertain significance
FOLH1B, NOX4
+2 more
Copy number gain
not provided
GUncertain significance
FOLH1B, NOX4
+6 more
Copy number gain
not provided
GLikely benign
CCDC81, CCDC83
+29 more
Copy number gain
not provided
GPathogenic
NOX4, TYR
Copy number gain
not provided
GUncertain significance
GRM5, HIKESHI
+36 more
Copy number loss
Intellectual disability
GPathogenic
AAMDC, AASDHPPT
+261 more
Copy number gain
not provided
GPathogenic
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
AASDHPPT, ACAT1
+95 more
Copy number loss
See cases
GPathogenic
CTSC, FOLH1B
+14 more
Copy number loss
Abnormal esophagus morphology
GLikely benign
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