"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "MCPH1-AS1" - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1676095	NM_024596.5(MCPH1):c.2358C>A (p.Val786=)	MCPH1, MCPH1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 810247	NM_024596.5(MCPH1):c.2368C>T (p.Pro790Ser)	MCPH1, MCPH1-AS1 (P697S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 158856	NM_024596.5(MCPH1):c.2401A>G (p.Ser801Gly)	MCPH1-AS1, MCPH1 (S801G +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1919634	NM_024596.5(MCPH1):c.2403C>T (p.Ser801=)	MCPH1, MCPH1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026595	NM_024596.5(MCPH1):c.2452+176C>G	MCPH1, MCPH1-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2658351	NM_024596.5(MCPH1):c.2452+4309G>A	MCPH1, MCPH1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3067465	NM_024596.5(MCPH1):c.2452+4333G>A	MCPH1, MCPH1-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3025932	NM_024596.5(MCPH1):c.2453-5080C>G	MCPH1, MCPH1-AS1	Single nucleotide variant (synonymous variant +1 more)	MCPH1-related condition +1 more	GLikely benign

ClinVar