C4225202[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690059	NM_006940.6(SOX5):c.2283A>C (p.Gln761His)	SOX5 (Q375H +5 more)	Single nucleotide variant (missense variant)	Lamb-Shaffer syndrome	GUncertain significance
Select item 2436263	NM_006940.6(SOX5):c.2149G>A (p.Gly717Arg)	SOX5 (G331R +5 more)	Single nucleotide variant (missense variant)	Lamb-Shaffer syndrome	GUncertain significance
Select item 2433667	NM_006940.6(SOX5):c.1867T>C (p.Tyr623His)	SOX5 (Y237H +5 more)	Single nucleotide variant (missense variant)	Lamb-Shaffer syndrome	GLikely pathogenic
Select item 2436260	NM_006940.6(SOX5):c.1303G>T (p.Ala435Ser)	SOX5 (A400S +4 more)	Single nucleotide variant (missense variant +1 more)	Lamb-Shaffer syndrome	GUncertain significance
Select item 2352289	NM_006940.6(SOX5):c.1280G>A (p.Gly427Asp)	SOX5 (G414D +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2436262	NM_006940.6(SOX5):c.913A>G (p.Ser305Gly)	SOX5 (S270G +3 more)	Single nucleotide variant (missense variant)	Lamb-Shaffer syndrome	GUncertain significance
Select item 2436261	NM_006940.6(SOX5):c.693T>G (p.Ile231Met)	SOX5 (I196M +3 more)	Single nucleotide variant (missense variant)	Lamb-Shaffer syndrome	GUncertain significance
Select item 2436259	NM_006940.6(SOX5):c.576C>T (p.Pro192=)	SOX5	Single nucleotide variant (synonymous variant)	Lamb-Shaffer syndrome	GUncertain significance
Select item 986009	NM_006940.6(SOX5):c.179A>G (p.Asn60Ser)	SOX5 (N47S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance