ClinVar for MedGen (Select 1718475) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2683986	NM_001792.5(CDH2):c.1344+5G>T	CDH2	Single nucleotide variant (intron variant)	Agenesis of corpus callosum, cardiac, ocular, and genital syndrome	GUncertain significance
Select item 1792304	NM_001792.5(CDH2):c.2505C>G (p.Phe835Leu)	CDH2 (F804L +1 more)	Single nucleotide variant (missense variant)	Agenesis of corpus callosum, cardiac, ocular, and genital syndrome +2 more	GUncertain significance
Select item 1685257	NM_001792.5(CDH2):c.1344+1G>A	CDH2	Single nucleotide variant (splice donor variant)	Arrhythmogenic right ventricular dysplasia, familial, 14 +1 more	GPathogenic/Likely pathogenic
Select item 1683580	NM_001792.5(CDH2):c.1808C>G (p.Pro603Arg)	CDH2 (P572R +1 more)	Single nucleotide variant (missense variant)	Agenesis of corpus callosum, cardiac, ocular, and genital syndrome	GUncertain significance
Select item 929855	NM_001792.5(CDH2):c.485T>A (p.Val162Asp)	CDH2 (V162D +1 more)	Single nucleotide variant (missense variant)	Agenesis of corpus callosum, cardiac, ocular, and genital syndrome	GPathogenic
Select item 929854	NM_001792.5(CDH2):c.702+1G>A	CDH2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 805765	NM_001792.5(CDH2):c.2564_2567dup (p.Leu856fs)	CDH2 (L825fs +1 more)	Duplication (frameshift variant)	Agenesis of corpus callosum, cardiac, ocular, and genital syndrome +3 more	GPathogenic/Likely pathogenic
Select item 805764	NM_001792.5(CDH2):c.2563_2564del (p.Leu855fs)	CDH2 (L824fs +1 more)	Deletion (frameshift variant)	Agenesis of corpus callosum, cardiac, ocular, and genital syndrome +3 more	GPathogenic/Likely pathogenic
Select item 805760	NM_001792.5(CDH2):c.1789G>T (p.Asp597Tyr)	CDH2 (D566Y +1 more)	Single nucleotide variant (missense variant)	Agenesis of corpus callosum, cardiac, ocular, and genital syndrome +2 more	GPathogenic
Select item 805759	NM_001792.5(CDH2):c.1789G>A (p.Asp597Asn)	CDH2 (D566N +1 more)	Single nucleotide variant (missense variant)	Agenesis of corpus callosum, cardiac, ocular, and genital syndrome +3 more	GPathogenic/Likely pathogenic
Select item 804251	NM_001792.5(CDH2):c.2027A>G (p.Tyr676Cys)	CDH2 (Y645C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 789104	NM_001792.5(CDH2):c.702+6A>T	CDH2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia, familial, 14 +2 more	GBenign/Likely benign
Select item 789103	NM_001792.5(CDH2):c.885C>T (p.Asp295=)	CDH2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia, familial, 14 +3 more	GBenign/Likely benign