"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 143984	NM_001759.4(CCND2):c.841C>T (p.Pro281Ser)	CCND2 (P281S)	Single nucleotide variant (missense variant)	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	GPathogenic
Select item 1338376	NM_001759.4(CCND2):c.851T>A (p.Val284Glu)	CCND2 (V284E)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1330180	GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3	ACRBP, ACSM4 +106 more	Copy number gain	Small hand +6 more	GPathogenic

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