"GeneDx"[submitter] AND "LOC108021846"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1196892	NC_000017.11:g.72120679GC[5]	LOC108021846, SOX9 +1 more	Microsatellite	not provided	GLikely benign
Select item 1264490	NC_000017.11:g.72120684_72120685insGCAC	LOC108021846, SOX9 +1 more	Insertion	not provided	GBenign
Select item 1229218	NC_000017.11:g.72120684CA[12]	LOC108021846, SOX9 +1 more	Microsatellite	not provided	GBenign
Select item 1199135	NC_000017.11:g.72120684_72120685insGCACAC	LOC108021846, SOX9 +1 more	Insertion	not provided	GLikely benign
Select item 1284079	NC_000017.11:g.72120684CA[10]	LOC108021846, SOX9 +1 more	Microsatellite	not provided	GBenign
Select item 152566	GRCh38/hg38 17q24.3(chr17:72120958-72123189)x3	LOC108021846, SOX9	Copy number gain	See cases	GBenign
Select item 324902	NM_000346.4(SOX9):c.-169G>A	LOC108021846, SOX9	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign/Likely benign
Select item 324903	NM_000346.4(SOX9):c.-156T>A	LOC108021846, SOX9	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1290975	NM_000346.4(SOX9):c.-83G>A	LOC108021846, SOX9	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2183871	NM_000346.4(SOX9):c.16C>T (p.Pro6Ser)	LOC108021846, SOX9 (P6S)	Single nucleotide variant (missense variant)	Camptomelic dysplasia +2 more	GConflicting classifications of pathogenicity
Select item 507525	NM_000346.4(SOX9):c.18C>T (p.Pro6=)	LOC108021846, SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia +1 more	GLikely benign
Select item 705752	NM_000346.4(SOX9):c.48G>A (p.Lys16=)	LOC108021846, SOX9	Single nucleotide variant (synonymous variant)	Camptomelic dysplasia +1 more	GLikely benign
Select item 1217940	NM_000346.4(SOX9):c.181AAG[1] (p.Lys62del)	LOC108021846, SOX9 (K62del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3373081	NM_000346.4(SOX9):c.216C>T (p.Cys72=)	LOC108021846, SOX9	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1706148	NM_000346.4(SOX9):c.226G>T (p.Ala76Ser)	LOC108021846, SOX9 (A76S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304243	NM_000346.4(SOX9):c.247G>A (p.Gly83Ser)	LOC108021846, SOX9 (G83S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 546496	NM_000346.4(SOX9):c.272dup (p.Met91fs)	LOC108021846, SOX9 (M91fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 378637	NM_000346.4(SOX9):c.276G>T (p.Pro92=)	LOC108021846, SOX9	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1254813	NM_000346.4(SOX9):c.337A>G (p.Met113Val)	LOC108021846, SOX9 (M113V)	Single nucleotide variant (missense variant)	Camptomelic dysplasia +1 more	GPathogenic
Select item 392305	NM_000346.4(SOX9):c.370G>C (p.Ala124Pro)	LOC108021846, SOX9 (A124P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499969	NM_000346.4(SOX9):c.396C>G (p.Asn132Lys)	LOC108021846, SOX9 (N132K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 453015	NM_000346.4(SOX9):c.413C>A (p.Thr138Lys)	LOC108021846, SOX9 (T138K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 151583	GRCh38/hg38 17q24.3(chr17:72122288-72124232)x3	LOC108021846, SOX9	Copy number gain	See cases	GBenign
Select item 667624	NM_000346.4(SOX9):c.432-161G>A	LOC108021846, SOX9	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 24