C1535926[trait identifier] AND "SIB Swiss Institute of Bioinformatics" - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062029	NM_015378.4(VPS13D):c.5723T>C (p.Ile1908Thr)	VPS13D (I1908T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 929948	NM_001829.4(CLCN3):c.1709C>T (p.Thr570Ile)	CLCN3 (T543I +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and brain abnormalities +1 more	GLikely pathogenic
Select item 617475	NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)	EIF3F (F232V)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 67 +6 more	GPathogenic/Likely pathogenic
Select item 3062362	NM_001034173.4(ALDH1L2):c.398C>A (p.Pro133His)	ALDH1L2 (P133H)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 632564	NM_001318852.2(MAPK8IP3):c.1735C>T (p.Arg579Cys)	MAPK8IP3 (R578C +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA +2 more	GPathogenic/Likely pathogenic
Select item 982711	NM_004539.4(NARS1):c.1600C>T (p.Arg534Ter)	NARS1 (R534*)	Single nucleotide variant (nonsense)	Developmental disorder +4 more	GPathogenic
Select item 983068	NM_004539.4(NARS1):c.1067A>C (p.Asp356Ala)	NARS1 (D356A)	Single nucleotide variant (missense variant)	See cases +4 more	GConflicting classifications of pathogenicity
Select item 1285640	NM_020719.3(PRR12):c.5909T>C (p.Leu1970Pro)	PRR12 (L1970P)	Single nucleotide variant (missense variant)	Neuroocular syndrome +1 more	GConflicting classifications of pathogenicity