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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAMTS17, LOC130058037
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ADAMTS17, LOC130058037
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
ADAMTS17, LOC130058037
(P574S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
ADAMTS17, LOC130058037
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADAMTS17, LOC130058037
(R566Q)
Indel
(missense variant)
not provided
GUncertain significance
ADAMTS17, LOC130058037
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
ADAMTS17, LOC130058037
(R564L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADAMTS17, LOC130058037
(R564H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADAMTS17, LOC130058037
(R564C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ADAMTS17, LOC130058037
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADAMTS17, LOC130058037
(G562V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ADAMTS17, LOC130058037
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ADAMTS17, LOC130058037
(T561M)
Single nucleotide variant
(missense variant)
Weill-Marchesani 4 syndrome, recessive
+1 more
GUncertain significance
ADAMTS17, LOC130058037
(R557Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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