C1510586[trait identifier] AND "Diagnostic Laboratory, Strasbourg Univ - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 978968	NM_017739.4(POMGNT1):c.*11del	POMGNT1, TSPAN1 (G657fs)	Deletion (frameshift variant +1 more)	Autism spectrum disorder	GUncertain significance
Select item 521004	NM_001378120.1(MBD5):c.973C>T (p.Arg325Ter)	MBD5 (R325*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 978855	NM_001080517.3(SETD5):c.2591dup (p.Ser865fs)	SETD5 (S767fs +1 more)	Duplication (frameshift variant)	Autism spectrum disorder	GLikely pathogenic
Select item 206134	NM_002397.5(MEF2C):c.766C>T (p.Arg256Ter)	MEF2C (R254* +5 more)	Single nucleotide variant (nonsense)	Autism spectrum disorder +3 more	GPathogenic
Select item 978850	NM_002834.5(PTPN11):c.317A>G (p.Asp106Gly)	PTPN11 (D105G +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely pathogenic
Select item 162152	NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter)	DYRK1A (R255* +2 more)	Single nucleotide variant (nonsense)	DYRK1A-related intellectual disability syndrome +3 more	GPathogenic
Select item 978894	NM_001372044.2(SHANK3):c.2990del (p.Pro997fs)	SHANK3 (P997fs)	Deletion (frameshift variant)	Intellectual disability +1 more	GPathogenic
Select item 579449	NM_001353921.2(ARHGEF9):c.1474G>A (p.Gly492Ser)	ARHGEF9 (G485S +10 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 973141	NM_001353921.2(ARHGEF9):c.889C>T (p.Arg297Cys)	ARHGEF9 (R290C +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 973142	NM_001353921.2(ARHGEF9):c.16G>A (p.Gly6Ser)	ARHGEF9 (G6S)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	GUncertain significance