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

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 978859	NM_001372044.2(SHANK3):c.2300+3G>C	SHANK3	Single nucleotide variant (intron variant)	Intellectual disability	GUncertain significance
Select item 978894	NM_001372044.2(SHANK3):c.2990del (p.Pro997fs)	SHANK3 (P997fs)	Deletion (frameshift variant)	Autism spectrum disorder +1 more	GPathogenic
Select item 235854	NM_001372044.2(SHANK3):c.3134_3149dup (p.Pro1051fs)	SHANK3 (P1051fs)	Duplication (frameshift variant)	Intellectual disability	GPathogenic
Select item 978858	NM_001372044.2(SHANK3):c.3162_3165del (p.Phe1056fs)	SHANK3 (F1056fs)	Deletion (frameshift variant)	Intellectual disability	GPathogenic
Select item 978860	NM_001372044.2(SHANK3):c.3325del (p.Ala1109fs)	SHANK3 (A1109fs)	Deletion (frameshift variant)	Intellectual disability	GPathogenic
Select item 30560	NM_001372044.2(SHANK3):c.3574C>T (p.Arg1192Ter)	SHANK3 (R1117* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability	GPathogenic
Select item 978893	NM_001372044.2(SHANK3):c.3597del (p.Ser1200fs)	SHANK3 (S1200fs)	Deletion (frameshift variant)	Intellectual disability	GPathogenic
Select item 436718	NM_001372044.2(SHANK3):c.3904del	SHANK3 (A1227fs)	Deletion (frameshift variant)	Intellectual disability +4 more	GPathogenic/Likely pathogenic
Select item 279892	NM_001372044.2(SHANK3):c.3989_4001del (p.Arg1330fs)	SHANK3 (R1255fs +1 more)	Deletion (frameshift variant)	See cases +4 more	GPathogenic
Select item 978892	NM_001372044.2(SHANK3):c.4193del (p.Leu1398fs)	SHANK3 (L1398fs)	Deletion (frameshift variant)	Intellectual disability	GPathogenic
Select item 978857	NM_001372044.2(SHANK3):c.4290_4291del (p.Val1432fs)	SHANK3 (V1432fs)	Deletion (frameshift variant)	Phelan-McDermid syndrome +2 more	GPathogenic