C5543339[trait identifier] AND "Victorian Clinical Genetics Services, - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1805886	NM_015001.3(SPEN):c.922C>T (p.Arg308Ter)	SPEN (R308*)	Single nucleotide variant (nonsense)	Radio-Tartaglia syndrome	GPathogenic
Select item 1694493	NM_015001.3(SPEN):c.5567A>G (p.Asn1856Ser)	SPEN (N1856S)	Single nucleotide variant (missense variant)	SPEN-related condition +2 more	GBenign/Likely benign
Select item 1805177	NM_015001.3(SPEN):c.9361C>T (p.Arg3121Trp)	SPEN (R3121W)	Single nucleotide variant (missense variant)	Radio-Tartaglia syndrome	GUncertain significance

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