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Items: 1 to 100 of 415

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARL8B, ARPC4
+286 more
Copy number loss
See cases
GPathogenic
ARL8B, ARPC4
+271 more
Copy number loss
See cases
GPathogenic
ARL8B, ARPC4
+406 more
Copy number gain
See cases
GPathogenic
ARL8B, ARPC4
+291 more
Copy number loss
See cases
GPathogenic
ARL8B, ARPC4
+331 more
Copy number loss
See cases
GPathogenic
ANKRD28, ARL8B
+799 more
Copy number gain
See cases
GPathogenic
LOC129936198, LOC129936199
+647 more
Copy number gain
See cases
GPathogenic
ARL8B, ARPC4
+281 more
Copy number loss
See cases
GPathogenic
LOC129936421, LOC129936422
+962 more
Copy number gain
See cases
GPathogenic
ACAA1, ACVR2B
+1111 more
Copy number gain
See cases
GPathogenic
LOC110120630, LOC111429626
+608 more
Copy number gain
See cases
GPathogenic
ARL8B, ARPC4
+274 more
Copy number loss
See cases
GPathogenic
ARPC4, ARPC4-TTLL3
+307 more
Copy number gain
See cases
GPathogenic
ARPC4, ARPC4-TTLL3
+190 more
Copy number gain
See cases
GLikely pathogenic
ARPC4, ARPC4-TTLL3
+146 more
Copy number gain
See cases
GLikely pathogenic
ARPC4, ARPC4-TTLL3
+118 more
Copy number loss
See cases
GPathogenic
ATP2B2, ATP2B2-IT1
+58 more
Copy number loss
See cases
GPathogenic
ATG7, ATP2B2
+79 more
Copy number loss
See cases
GPathogenic
ATP2B2, ATP2B2-IT1
+36 more
Copy number loss
See cases
GUncertain significance
ATP2B2
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
ATP2B2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
ATP2B2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ATP2B2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ATP2B2
Single nucleotide variant
(synonymous variant +1 more)
ATP2B2-related disorder
GLikely benign
ATP2B2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ATP2B2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ATP2B2
(S1155L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ATP2B2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ATP2B2
(A1150V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ATP2B2
(A1150T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
ATP2B2
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
ATP2B2
(T1188S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ATP2B2
(R1129Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ATP2B2
(P1158A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ATP2B2
Deletion
(nonsense +1 more)
not provided
GUncertain significance
ATP2B2
(V1159I)
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
ATP2B2
(R1142H +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ATP2B2
Single nucleotide variant
(intron variant)
not provided
GBenign
ATP2B2
Single nucleotide variant
(intron variant)
not provided
GBenign
ATP2B2
Single nucleotide variant
(intron variant +1 more)
ATP2B2-related disorder
GUncertain significance
ATP2B2
(L1136F)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ATP2B2
Single nucleotide variant
(intron variant)
not provided
GBenign
ATP2B2
Single nucleotide variant
(intron variant)
not provided
GBenign
ATP2B2
(R1091Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B2
(R1087* +1 more)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
ATP2B2
(R1076P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B2
(R1076G +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B2
(A1074T +1 more)
Indel
(missense variant)
not provided
GUncertain significance
ATP2B2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ATP2B2
Single nucleotide variant
(synonymous variant)
ATP2B2-related disorder
+1 more
GBenign
ATP2B2
(V1068M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B2
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
ATP2B2
(E1066K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ATP2B2
(N1065S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ATP2B2
Single nucleotide variant
(synonymous variant)
ATP2B2-related disorder
GLikely benign
ATP2B2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATP2B2
Single nucleotide variant
(intron variant)
not provided
GBenign
ATP2B2
Deletion
(intron variant)
not provided
GBenign
ATP2B2
Single nucleotide variant
(intron variant)
not provided
GBenign
ATP2B2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP2B2
(V1076I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ATP2B2
(L1014P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B2
(P1008S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATP2B2
Single nucleotide variant
(intron variant)
not provided
GBenign
ATP2B2
Single nucleotide variant
(intron variant)
not provided
GBenign
ATP2B2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATP2B2
(R983Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B2
(G1025S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B2
(R975L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B2
(R1020fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
ATP2B2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP2B2
(I1016V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B2
(R1014C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP2B2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ATP2B2
(Q1006R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ATP2B2
(A940T +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
ATP2B2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ATP2B2
(E974* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
ATP2B2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ATP2B2
Single nucleotide variant
(intron variant)
not provided
GBenign
ATP2B2
Single nucleotide variant
(intron variant)
not provided
GBenign
ATP2B2
Single nucleotide variant
(intron variant)
not provided
GBenign
ATP2B2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ATP2B2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ATP2B2
(I921F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ATP2B2
(P945L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B2
(R897C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ATP2B2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
ATP2B2
(P894L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B2
(K938R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ATP2B2
(T888S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ATP2B2
(T931M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP2B2
(S877L +1 more)
Single nucleotide variant
(missense variant)
ATP2B2-related Progressive hearing impairment
+1 more
GConflicting classifications of pathogenicity
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