"Diagnostic Laboratory, Strasbourg University Hospital"[submitter] AND - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1334906	NM_032539.5(SLITRK2):c.221T>C (p.Leu74Ser)	SLITRK2 (L74S)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 1334909	NM_032539.5(SLITRK2):c.628G>A (p.Glu210Lys)	SLITRK2 (E210K)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked 111 +1 more	GConflicting classifications of pathogenicity
Select item 1334907	NM_032539.5(SLITRK2):c.934A>G (p.Thr312Ala)	SLITRK2 (T312A)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked 111 +1 more	GPathogenic/Likely pathogenic
Select item 1334882	NM_032539.5(SLITRK2):c.1121C>G (p.Pro374Arg)	SLITRK2 (P374R)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked 111 +1 more	GPathogenic/Likely pathogenic
Select item 1334905	NM_032539.5(SLITRK2):c.1276C>T (p.Arg426Cys)	SLITRK2 (R426C)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked 111 +1 more	GPathogenic/Likely pathogenic
Select item 1334881	NM_032539.5(SLITRK2):c.1381G>T (p.Glu461Ter)	SLITRK2 (E461*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, X-linked 111 +1 more	GPathogenic/Likely pathogenic
Select item 1334908	NM_032539.5(SLITRK2):c.1531G>A (p.Val511Met)	SLITRK2 (V511M)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked 111 +1 more	GConflicting classifications of pathogenicity
Select item 1334910	NM_032539.5(SLITRK2):c.1665G>C (p.Glu555Asp)	SLITRK2 (E555D)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance