ClinVar for MedGen (Select 369554) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1253660	NM_006265.3(RAD21):c.274+26GTT[5]	RAD21	Microsatellite (intron variant)	Cornelia de Lange syndrome 4 +2 more	GBenign
Select item 1206361	NM_006265.3(RAD21):c.815-6_815-5del	RAD21	Deletion (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1204746	NM_006265.3(RAD21):c.815-27dup	RAD21	Duplication (intron variant)	not provided +2 more	GLikely benign
Select item 560415	NM_006265.3(RAD21):c.1864G>A (p.Ala622Thr)	RAD21 (A622T)	Single nucleotide variant (missense variant)	Mungan syndrome	GPathogenic
Select item 522193	NM_006265.3(RAD21):c.815-5del	RAD21	Deletion (intron variant)	Mungan syndrome +2 more	GBenign/Likely benign
Select item 445861	NM_006265.3(RAD21):c.-32-1G>A	RAD21	Single nucleotide variant (splice acceptor variant)	not specified +3 more	GLikely benign
Select item 372619	NM_006265.3(RAD21):c.1352T>G (p.Leu451Arg)	RAD21 (L451R)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 4 +3 more	GConflicting classifications of pathogenicity
Select item 159808	NM_006265.3(RAD21):c.688+8G>A	RAD21	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 159805	NM_006265.3(RAD21):c.1440T>C (p.Ala480=)	RAD21	Single nucleotide variant (synonymous variant)	Mungan syndrome +4 more	GBenign

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