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Links from Gene

Items: 1 to 100 of 204

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCB7, ABCD1
+526 more
Duplication
Hereditary factor VIII deficiency disease
GUncertain significance
AGTR2
(T250fs)
Deletion
(frameshift variant)
AGTR2-related disorder
GUncertain significance
AGTR2
(Y52D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGTR2, DANT2
+8 more
Deletion
not provided
GPathogenic
LOC130068417, LOC130068418
+2599 more
Copy number gain
Klinefelter syndrome
GPathogenic
AGTR2
(E30D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGTR2
(I293T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGTR2
(T178A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGTR2
(I57T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCD1, ACSL4
+321 more
Copy number loss
not specified
GPathogenic
AGTR2
(C169F)
Single nucleotide variant
(missense variant)
AGTR2-related disorder
GUncertain significance
CT47A5, NXF3
+488 more
Copy number gain
not provided
GPathogenic
AGTR2
(I135fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
AGTR2
(I135fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
AGTR2
(C137*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
AGTR2
(S79C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AGTR2, AKAP14
+66 more
Copy number gain
not provided
GPathogenic
ACSL4, AGTR2
+175 more
Copy number loss
not provided
GPathogenic
ACSL4, AGTR2
+159 more
Copy number gain
not provided
GPathogenic
AGTR2
(I49V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
AGTR2
(H237Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
AGTR2
(T309N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABCB7, ABCD1
+818 more
Copy number gain
Klinefelter syndrome
GPathogenic
AGTR2
(V184I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGTR2
(C71S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
AGTR2
(Q37E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGTR2
(P301L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGTR2
(S26P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGTR2
(P201S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGTR2
(S105C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGTR2
(I222T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACSL4, AGTR2
+133 more
Copy number loss
not provided
GPathogenic
AGTR2
(N29S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGTR2
(P271L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AGTR2
(I147N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAPN6, CENPI
+176 more
Copy number gain
not provided
GPathogenic
ABCB7, ABCD1
+790 more
Copy number loss
See cases
GPathogenic
NXF5, NXT2
+414 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+818 more
Copy number gain
Klinefelter syndrome
GPathogenic
ABCB7, ABCD1
+501 more
Copy number loss
Turner syndrome
GPathogenic
ABCB7, ABCD1
+819 more
Copy number loss
Turner syndrome
GPathogenic
AKAP14, CT47A11
+819 more
Copy number gain
Hypotonia
+2 more
GPathogenic
ACSL4, AGTR2
+77 more
Copy number gain
not specified
GPathogenic
RADX, RAI2
+818 more
Copy number loss
not provided
GPathogenic
GPM6B, KLHL15
+818 more
Copy number gain
not provided
GPathogenic
KLHL34, KLHL4
+818 more
Copy number loss
not provided
GPathogenic
CPXCR1, GABRE
+509 more
Copy number gain
not provided
GPathogenic
ARMCX4, CXorf51B
+513 more
Copy number gain
See cases
GPathogenic
ABCD1, ACSL4
+387 more
Copy number loss
not provided
GPathogenic
ACSL4, ACTRT1
+201 more
Copy number loss
not provided
GPathogenic
ABCD1, ACSL4
+398 more
Copy number loss
not provided
GPathogenic
ABCD1, ACSL4
+410 more
Copy number loss
not provided
GPathogenic
AGTR2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
AGTR2
(Y231H)
Single nucleotide variant
(missense variant)
not provided
GBenign
ARHGAP36, ARHGAP4
+818 more
Copy number loss
not provided
GPathogenic
AWAT1, AWAT2
+524 more
Copy number loss
not provided
GUncertain significance
ABCD1, ACSL4
+320 more
Copy number loss
not provided
GPathogenic
AWAT2, BCAP31
+502 more
Copy number loss
not provided
GPathogenic
BEX1, BEX2
+818 more
Copy number gain
not provided
GPathogenic
AIFM1, CXorf51A
+389 more
Copy number loss
not provided
GPathogenic
AKAP14, CCDC22
+733 more
Duplication
Syndromic X-linked intellectual disability Lubs type
GPathogenic
AGTR2
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
AGTR2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
FMR1-AS1, FMR1NB
+297 more
Copy number loss
not provided
GPathogenic
ABCD1, ACSL4
+385 more
Copy number loss
not provided
GPathogenic
ABCD1, ACSL4
+390 more
Copy number loss
not provided
GPathogenic
AMER1, AMMECR1
+541 more
Indel
Heterotaxy, visceral, 1, X-linked
GPathogenic
ARSF, CFAP47
+2632 more
Duplication
Autism
+1 more
GPathogenic
AGTR2
(E291K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AGTR2
(Y148C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AGTR2
(H273N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ABCB7, ABCD1
+818 more
Copy number gain
See cases
GPathogenic
LRCH2, LUZP4
+277 more
Copy number loss
See cases
GPathogenic
PNMA5, PNMA6A
+695 more
Copy number loss
See cases
GPathogenic
NAA10, NALF2
+509 more
Copy number gain
See cases
GPathogenic
ABCD1, ACSL4
+410 more
Copy number loss
See cases
GPathogenic
ACSL4, ACTRT1
+303 more
Copy number gain
See cases
GUncertain significance
AP1S2, APEX2
+731 more
Copy number loss
See cases
GPathogenic
ABCD1, ACSL4
+384 more
Copy number loss
See cases
GPathogenic
OR13H1, OTUD6A
+505 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+523 more
Copy number gain
See cases
GPathogenic
ATP11C, ATP1B4
+393 more
Copy number loss
See cases
GPathogenic
YIPF6, ZBTB33
+505 more
Copy number gain
See cases
GPathogenic
AGTR2, AMOT
+18 more
Copy number gain
See cases
GLikely pathogenic
ABCD1, ACSL4
+406 more
Copy number loss
See cases
GPathogenic
PLP1, PLS3
+158 more
Copy number loss
See cases
GPathogenic
BEX4, BEX5
+566 more
Copy number gain
not provided
GUncertain significance
AGTR2
(G21R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TMLHE, TMSB15A
+819 more
Copy number loss
See cases
GPathogenic
ABCB7, ABCD1
+819 more
Copy number loss
See cases
GPathogenic
BEX1, BEX2
+819 more
Copy number gain
See cases
GPathogenic
ABCD1, ACSL4
+387 more
Copy number loss
See cases
GPathogenic
ABCD1, ACSL4
+314 more
Copy number loss
See cases
GPathogenic
ACSL4, ACTRT1
+180 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+819 more
Copy number gain
See cases
GPathogenic
ABCB7, ADGRG2
+818 more
Copy number loss
See cases
GPathogenic
TCEAL8, TCEAL9
+299 more
Copy number gain
See cases
GPathogenic
ABCB7, ABCD1
+819 more
Copy number loss
See cases
GPathogenic
AGTR2
(N310K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AGTR2
(W100R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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