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

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	DMTN, DOK2 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 362475	NM_005144.5(HR):c.3470C>G (p.Pro1157Arg)	HR (P1157R +1 more)	Single nucleotide variant (missense variant)	Atrichia with papular lesions +3 more	GBenign/Likely benign

Format

Sort by

Choose Destination