ClinVar for MedGen (Select 460626) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1684662	NC_000016.10:g.21936825_22429665del	UQCRC2, VWA3A +35 more	Deletion	Chromosome 16p12.1 deletion syndrome, 520kb	GPathogenic
Select item 1330202	GRCh37/hg19 16p12.2(chr16:21747532-22824584)x1	CDR2, EEF2K +9 more	Copy number loss	Chromosome 16p12.1 deletion syndrome, 520kb	GPathogenic
Select item 1330200	GRCh37/hg19 16p12.2(chr16:21869250-22524572)x1	CDR2, EEF2K +7 more	Copy number loss	Chromosome 16p12.1 deletion syndrome, 520kb	GPathogenic
Select item 1330186	GRCh37/hg19 16p12.2(chr16:21781158-22825913)x1	CDR2, EEF2K +9 more	Copy number loss	Chromosome 16p12.1 deletion syndrome, 520kb	GPathogenic
Select item 1330168	GRCh37/hg19 16p12.2(chr16:21964695-22376385)x1	CDR2, EEF2K +6 more	Copy number loss	Chromosome 16p12.1 deletion syndrome, 520kb	GPathogenic
Select item 625754	GRCh37/hg19 16p12.2(chr16:21973828-22361172)	CDR2, EEF2K +6 more	Copy number loss	Chromosome 16p12.1 deletion syndrome, 520kb	GLikely pathogenic
Select item 625686	GRCh37/hg19 16p12.2(chr16:21964083-22386845)	CDR2, EEF2K +6 more	Copy number loss	Chromosome 16p12.1 deletion syndrome, 520kb	GPathogenic
Select item 625677	GRCh37/hg19 16p12.2(chr16:21973828-22361172)	CDR2, EEF2K +6 more	Copy number loss	Chromosome 16p12.1 deletion syndrome, 520kb	GLikely pathogenic
Select item 625599	GRCh37/hg19 16p12.2(chr16:21976691-22386881)	POLR3E, SDR42E2 +6 more	Copy number loss	Chromosome 16p12.1 deletion syndrome, 520kb	GPathogenic
Select item 625577	GRCh37/hg19 16p12.2(chr16:21943463-22702769)	CDR2, EEF2K +7 more	Copy number loss	Chromosome 16p12.1 deletion syndrome, 520kb	GLikely pathogenic
Select item 625576	GRCh37/hg19 16p12.2(chr16:21884192-22288219)	SDR42E2, EEF2K +4 more	Copy number loss	Chromosome 16p12.1 deletion syndrome, 520kb	GPathogenic