"GeneDx"[submitter] AND "SOX18"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
Select item 1242190	NM_018419.3(SOX18):c.*127G>A	SOX18	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1247986	NM_018419.3(SOX18):c.*82T>C	SOX18	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 261031	NM_018419.3(SOX18):c.801G>A (p.Ala267=)	SOX18	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 8002	NM_018419.3(SOX18):c.720C>A (p.Cys240Ter)	SOX18 (C240*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2504729	NM_018419.3(SOX18):c.536C>T (p.Pro179Leu)	SOX18 (P179L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1691139	NM_018419.3(SOX18):c.521T>C (p.Leu174Pro)	SOX18 (L174P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 261030	NM_018419.3(SOX18):c.358+34A>C	SOX18	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 261029	NM_018419.3(SOX18):c.243C>T (p.Asp81=)	SOX18	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1225190	NC_000020.11:g.64049808C>T	LOC108281116, SOX18	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 253445	GRCh37/hg19 20q13.33(chr20:61827144-62907526)x1	PPDPF, OPRL1 +35 more	Copy number loss	See cases	GPathogenic