C1510586[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1297035	NM_013436.5(NCKAP1):c.3348_3351del (p.Ala1115_Tyr1116insTer)	NCKAP1	Deletion (nonsense)	Neurodevelopmental disorder +2 more	GUncertain significance
Select item 800722	NM_005909.5(MAP1B):c.4990C>T (p.Arg1664Ter)	MAP1B (R1538* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder +1 more	GPathogenic/Likely pathogenic
Select item 996681	NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu)	STXBP1 (P173L +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4 +3 more	GPathogenic/Likely pathogenic
Select item 1262	NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)	RNASEH2B (A177T)	Single nucleotide variant (missense variant)	Abnormality of the nervous system +6 more	GPathogenic/Likely pathogenic
Select item 40781	NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn)	MAP2K1 (D67N)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	GPathogenic FDA Recognized database
Select item 13397	NM_000311.5(PRNP):c.385A>G (p.Met129Val)	PRNP (M129V)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GBenign/Likely benign
Select item 372707	NM_001372044.2(SHANK3):c.3649_3650del	SHANK3	Deletion	Phelan-McDermid syndrome +2 more	GPathogenic/Likely pathogenic
Select item 208759	NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs)	SHANK3 (A1227fs)	Duplication (frameshift variant)	Inborn genetic diseases +5 more	GPathogenic

ClinVar