ClinVar for MedGen (Select 462730) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3069185	NM_001372044.2(SHANK3):c.4910C>A (p.Ser1637Ter)	SHANK3 (S1562* +1 more)	Single nucleotide variant (nonsense)	Phelan-McDermid syndrome +1 more	GPathogenic
Select item 3024287	NM_001372044.2(SHANK3):c.4265dup (p.Ala1423fs)	SHANK3 (A1423fs)	Duplication (frameshift variant)	Schizophrenia 15 +1 more	GPathogenic
Select item 1683569	NM_001372044.2(SHANK3):c.3952_3964del (p.Gln1318fs)	SHANK3 (Q1318fs)	Deletion (frameshift variant)	Schizophrenia 15 +1 more	GPathogenic
Select item 1275575	NM_001372044.2(SHANK3):c.1113-8C>T	SHANK3	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 988760	NM_001372044.2(SHANK3):c.3313del (p.Leu1105fs)	SHANK3 (L1105fs)	Deletion (frameshift variant)	Phelan-McDermid syndrome +1 more	GLikely pathogenic
Select item 988742	NM_001372044.2(SHANK3):c.4108GAG[1] (p.Glu1371del)	SHANK3 (E1371del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 436718	NM_033517.1(SHANK3):c.3679del (p.Ala1227fs)	SHANK3 (A1227fs)	Deletion (frameshift variant)	Intellectual disability +4 more	GPathogenic/Likely pathogenic
Select item 397528	NM_033517.1(SHANK3):c.3637dup (p.His1213fs)	SHANK3	Duplication	Mutism +4 more	GPathogenic
Select item 252769	NM_001372044.2(SHANK3):c.3133G>T (p.Ala1045Ser)	SHANK3 (A970S +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 208759	NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs)	SHANK3 (A1227fs)	Duplication (frameshift variant)	Phelan-McDermid syndrome +5 more	GPathogenic
Select item 30561	NM_001372044.2(SHANK3):c.1831C>T (p.Arg611Trp)	SHANK3 (R536W +1 more)	Single nucleotide variant (missense variant)	Schizophrenia 15	GPathogenic
Select item 30560	NM_001372044.2(SHANK3):c.3574C>T (p.Arg1192Ter)	SHANK3 (R1117* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability	GPathogenic