C0233514[trait identifier] AND "Centre for Mendelian Genomics, Univers - 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 523421	NM_001378452.1(ITPR1):c.2477C>T (p.Ser826Phe)	ITPR1 (S811F +1 more)	Single nucleotide variant (missense variant)	Movement disorder +3 more	GUncertain significance
Select item 9	NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)	HFE (C282Y +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +19 more	GPathogenic/Pathogenic, low penetrance; other; risk factor
Select item 523494	NM_006772.3(SYNGAP1):c.1697_1700dup (p.Val568fs)	SYNGAP1, SYNGAP1-AS1 (V568fs)	Duplication (frameshift variant)	Motor delay +3 more	GLikely pathogenic
Select item 411584	NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter)	SYNGAP1, SYNGAP1-AS1 (R687*)	Single nucleotide variant (nonsense)	Pointed chin +15 more	GPathogenic/Likely pathogenic
Select item 523458	NM_001032221.6(STXBP1):c.360del (p.Lys120fs)	STXBP1 (K120fs +2 more)	Deletion (frameshift variant)	Macrocephaly +4 more	GPathogenic
Select item 523382	NM_000834.5(GRIN2B):c.2225G>T (p.Arg742Ile)	GRIN2B (R742I)	Single nucleotide variant (missense variant)	Autistic behavior +3 more	GLikely pathogenic
Select item 523381	NM_000834.5(GRIN2B):c.2216T>G (p.Met739Arg)	GRIN2B (M739R)	Single nucleotide variant (missense variant)	Craniosynostosis syndrome +10 more	GLikely pathogenic
Select item 522263	NM_013275.6(ANKRD11):c.6919C>T (p.Pro2307Ser)	ANKRD11 (P2307S)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 523550	NM_001372044.2(SHANK3):c.3302C>T (p.Ser1101Phe)	SHANK3 (S1026F +1 more)	Single nucleotide variant (missense variant)	Macrocephaly +4 more	GUncertain significance
Select item 11823	NM_001110792.2(MECP2):c.455C>T (p.Ala152Val)	MECP2 (A140V +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability +15 more	GPathogenic/Likely pathogenic