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Links from Gene

Items: 54

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LONP2, SIAH1
(M1I +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
LONP2, SIAH1
(A37fs +1 more)
Insertion
(frameshift variant +1 more)
Buratti-Harel syndrome
GLikely pathogenic
LONP2, SIAH1
(P110L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LONP2, SIAH1
(Y47fs +1 more)
Deletion
(frameshift variant +1 more)
SIAH1-related condition
GUncertain significance
SIAH1
(Y11*)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
LONP2, SIAH1
(F185C +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LONP2, SIAH1
(C121fs +1 more)
Duplication
(frameshift variant +1 more)
Buratti-Harel syndrome
GLikely pathogenic
LONP2, SIAH1
(L69V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LONP2, SIAH1
(G12D +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SIAH1
(M1L)
Single nucleotide variant
(missense variant +2 more)
Buratti-Harel syndrome
GUncertain significance
LONP2, SIAH1
(D177H +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LONP2, SIAH1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LONP2, SIAH1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
LONP2, SIAH1
(M190T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LONP2, SIAH1
(P109L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LONP2, SIAH1
(A24fs +1 more)
Duplication
(frameshift variant +1 more)
not provided
GUncertain significance
LONP2, SIAH1
(R21S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SIAH1
(T26R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SIAH1
Single nucleotide variant
(intron variant)
Buratti-Harel syndrome
GUncertain significance
LONP2, SIAH1
(G174S +1 more)
Single nucleotide variant
(missense variant +1 more)
Buratti-Harel syndrome
GUncertain significance
LONP2, SIAH1
(P17A +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SIAH1
(V16fs)
Duplication
(frameshift variant +1 more)
Inborn genetic diseases
GUncertain significance
HERPUD1, IRX3
+99 more
Copy number gain
not provided
GPathogenic
LONP2, SIAH1
(R233Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LONP2, SIAH1
(R107W +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
LONP2, SIAH1
(H152R +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
LONP2, SIAH1
(D162N +1 more)
Single nucleotide variant
(missense variant +1 more)
Buratti-Harel syndrome
GLikely pathogenic
AARS1, ABCC11
+368 more
Copy number gain
not provided
GPathogenic
SIAH1, LONP2
(A39V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CFAP20, LOC101927556
+520 more
Duplication
not provided
GPathogenic
LONP2, SIAH1
(P50L +1 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder
GLikely pathogenic
LONP2, SIAH1
(G174R +1 more)
Single nucleotide variant
(missense variant +1 more)
Buratti-Harel syndrome
GPathogenic
LONP2, SIAH1
(C41G +1 more)
Single nucleotide variant
(missense variant +1 more)
Buratti-Harel syndrome
GPathogenic
LONP2, SIAH1
(C128F +1 more)
Single nucleotide variant
(missense variant +1 more)
Buratti-Harel syndrome
GPathogenic
LONP2, SIAH1
(T168A +1 more)
Single nucleotide variant
(missense variant +1 more)
Buratti-Harel syndrome
GPathogenic
LONP2, SIAH1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
LONP2, SIAH1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
LONP2, SIAH1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
LONP2, SIAH1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign/Likely benign
CA7, COG8
+368 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
KCTD19, KIAA0513
+368 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
ABCC11, ABCC12
+100 more
Copy number gain
See cases
GPathogenic
CBLN1, CCDC102A
+591 more
Copy number gain
See cases
GUncertain significance
AARS1, ABAT
+811 more
Copy number gain
See cases
GPathogenic
CCL22, CCNF
+811 more
Copy number gain
See cases
GPathogenic
ABCC11, ABCC12
+23 more
Copy number loss
See cases
GPathogenic
ABCC6, BCL7C
+811 more
Copy number gain
See cases
GPathogenic
ATXN1L, B3GNT9
+368 more
Copy number loss
Breast ductal adenocarcinoma
GUncertain significance
ABCC11, ABCC12
+211 more
Copy number loss
See cases
GPathogenic
CNEP1R1, CYLD
+210 more
Copy number gain
See cases
GPathogenic
ABCC11, ABCC12
+211 more
Copy number loss
See cases
GPathogenic
LOC130058939, LOC130058940
+210 more
Copy number loss
See cases
GPathogenic
ABCC11, ABCC12
+203 more
Copy number loss
See cases
GPathogenic
C16orf78, HNRNPA1L3
+205 more
Copy number loss
See cases
GPathogenic
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