"Broad Center for Mendelian Genomics, Broad Institute of MIT and Harva - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 159537	NM_000430.4(PAFAH1B1):c.671+5G>A	PAFAH1B1	Single nucleotide variant (intron variant)	Lissencephaly due to LIS1 mutation	GLikely pathogenic
Select item 21175	NM_000430.4(PAFAH1B1):c.1002+1G>A	PAFAH1B1	Single nucleotide variant (splice donor variant)	Lissencephaly due to LIS1 mutation	GPathogenic

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