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Items: 1 to 100 of 103

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADTRP, ATXN1
+824 more
Copy number gain
See cases
GPathogenic
LOC129995709, LOC129995710
+642 more
Copy number gain
See cases
GPathogenic
ADTRP, ATXN1
+778 more
Copy number gain
See cases
GPathogenic
ADTRP, BLOC1S5
+611 more
Copy number loss
See cases
GPathogenic
LINC01622, LINC02521
+558 more
Copy number gain
See cases
GLikely pathogenic
HCG26, HCG27
+2581 more
Copy number gain
See cases
GPathogenic
LOC129995671, LOC129995672
+509 more
Copy number gain
See cases
GLikely pathogenic
LOC129995581, LOC129995582
+436 more
Copy number gain
See cases
GPathogenic
ADTRP, BLOC1S5
+572 more
Copy number gain
See cases
GPathogenic
BLOC1S5, BLOC1S5-TXNDC5
+432 more
Copy number loss
See cases
GPathogenic
LOC126859578, LOC126859579
+536 more
Copy number gain
See cases
GPathogenic
ADTRP, ATXN1
+617 more
Copy number loss
See cases
GPathogenic
ABCF1, ABT1
+1340 more
Copy number gain
See cases
GPathogenic
LOC129995677, LOC129995678
+331 more
Copy number loss
See cases
GPathogenic
BLOC1S5, BLOC1S5-TXNDC5
+159 more
Copy number loss
See cases
GPathogenic
BMP6
Microsatellite
Neonatal hemochromatosis
GUncertain significance
BMP6
Single nucleotide variant
Neonatal hemochromatosis
GUncertain significance
BMP6
(G23R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP6
(R28Q)
Single nucleotide variant
(missense variant)
BMP6-related disorder
GBenign
BMP6
(A33T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP6
(P57S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP6
(L71V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP6
Single nucleotide variant
(synonymous variant)
BMP6-related disorder
GBenign
BMP6
(Q80P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP6
(L89F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP6
(R94W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP6
Single nucleotide variant
(missense variant)
not provided
GLikely benign
BMP6
(P95L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP6
Single nucleotide variant
(missense variant)
not provided
GLikely benign
BMP6
(H97Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP6
Microsatellite
(inframe insertion)
BMP6-related disorder
GBenign
BMP6
(E112Q)
Single nucleotide variant
(missense variant)
Iron overload, susceptibility to
Grisk factor
BMP6
Single nucleotide variant
(missense variant)
BMP6-related disorder
+1 more
GBenign/Likely benign
BMP6
Single nucleotide variant
(synonymous variant)
BMP6-related disorder
GBenign
BMP6
(P124S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP6
(L137M)
Single nucleotide variant
(missense variant)
Premature ovarian failure
GLikely pathogenic
BMP6
(L143V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP6
(N147D)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
BMP6
(N147S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP6
(D150E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BMP6
(A152E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP6
Single nucleotide variant
(nonsense)
Iron overload, susceptibility to
Grisk factor
BMP6
Single nucleotide variant
(synonymous variant)
BMP6-related disorder
+1 more
GBenign/Likely benign
BMP6
(P176A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP6
(A189T)
Single nucleotide variant
(missense variant)
BMP6-related disorder
GBenign
BMP6
Single nucleotide variant
(synonymous variant)
BMP6-related disorder
GLikely benign
BMP6
(S202N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP6
(S202T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP6
(S202R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP6
(A203S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP6
Single nucleotide variant
(synonymous variant)
BMP6-related disorder
GLikely benign
BMP6
(F208S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP6
(F208L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP6
(L209P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP6
Single nucleotide variant
(synonymous variant)
BMP6-related disorder
GBenign
BMP6
Single nucleotide variant
(synonymous variant)
BMP6-related disorder
GLikely benign
BMP6
Single nucleotide variant
(intron variant)
BMP6-related disorder
GLikely benign
BMP6
(Y224D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP6
(R233Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP6
(R257H)
Single nucleotide variant
(missense variant)
Iron overload, susceptibility to
Grisk factor
BMP6
Single nucleotide variant
(synonymous variant)
BMP6-related disorder
GLikely benign
BMP6
(R296H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP6
(E302K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP6
(T311M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP6
(T320I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP6
(H338R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP6
Single nucleotide variant
(synonymous variant)
BMP6-related disorder
GBenign
BMP6
Single nucleotide variant
(synonymous variant)
BMP6-related disorder
GBenign
BMP6
(G351S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP6
Single nucleotide variant
(synonymous variant)
BMP6-related disorder
GBenign
BMP6
(S366R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP6
Single nucleotide variant
(synonymous variant)
BMP6-related disorder
GBenign
BMP6
Single nucleotide variant
(synonymous variant)
BMP6-related disorder
GLikely benign
BMP6
(T373S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP6
Single nucleotide variant
(synonymous variant)
BMP6-related disorder
GLikely benign
BMP6
(N404S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP6
(S405N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP6
(D428N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP6
Single nucleotide variant
(synonymous variant)
BMP6-related disorder
GLikely benign
BMP6
Single nucleotide variant
(intron variant)
BMP6-related disorder
GLikely benign
BMP6
(E471K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP6
(S487L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BMP6
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADTRP, BLOC1S5
+73 more
Copy number gain
not provided
GPathogenic
BMP6, DSP
+1 more
Duplication
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
+1 more
GUncertain significance
ADTRP, ATXN1
+89 more
Copy number gain
See cases
GPathogenic
BLOC1S5, BMP6
+7 more
Copy number gain
not provided
GUncertain significance
BLOC1S5, BMP6
+11 more
Copy number loss
not provided
GPathogenic
BMP6, CAGE1
+5 more
Copy number gain
not provided
GUncertain significance
ADTRP, ATXN1
+95 more
Copy number gain
not provided
GPathogenic
BLOC1S5, BMP6
+23 more
Copy number loss
not provided
GPathogenic
BLOC1S5, BMP6
+17 more
Copy number loss
not provided
GPathogenic
BLOC1S5, BMP6
+38 more
Copy number gain
not provided
GLikely pathogenic
ADTRP, ATXN1
+93 more
Copy number gain
not provided
GPathogenic
ADTRP, BLOC1S5
+66 more
Copy number gain
not provided
GPathogenic
ADTRP, ATXN1
+95 more
Duplication
not provided
GPathogenic
TAAR8, TAAR9
+1028 more
Copy number gain
See cases
GPathogenic
VPS52, VTA1
+1028 more
Copy number gain
See cases
GPathogenic
BMP6, CAGE1
+5 more
Copy number gain
See cases
GLikely benign
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