"CDH3-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3049458	NM_001793.6(CDH3):c.-14CT[3]	CDH3, CDH3-AS1	Microsatellite (5 prime UTR variant +1 more)	CDH3-related disorder	GLikely benign
Select item 731369	NM_001793.6(CDH3):c.141C>G (p.Pro47=)	CDH3, CDH3-AS1	Single nucleotide variant (synonymous variant +1 more)	EEM syndrome +2 more	GBenign
Select item 744823	NM_001793.6(CDH3):c.285C>A (p.Ile95=)	CDH3	Single nucleotide variant (synonymous variant)	CDH3-related disorder +1 more	GLikely benign
Select item 3033047	NM_001793.6(CDH3):c.461del (p.Pro154fs)	CDH3 (P154fs +1 more)	Deletion (frameshift variant)	CDH3-related disorder	GLikely pathogenic
Select item 761020	NM_001793.6(CDH3):c.558C>T (p.His186=)	CDH3	Single nucleotide variant (synonymous variant)	CDH3-related disorder +1 more	GLikely benign
Select item 1166260	NM_001793.6(CDH3):c.582A>C (p.Ser194=)	CDH3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1102697	NM_001793.6(CDH3):c.708G>A (p.Gln236=)	CDH3	Single nucleotide variant (synonymous variant)	CDH3-related disorder +1 more	GLikely benign
Select item 285028	NM_001793.6(CDH3):c.805A>C (p.Met269Leu)	CDH3 (M269L +1 more)	Single nucleotide variant (missense variant)	EEM syndrome +3 more	GBenign/Likely benign
Select item 1899509	NM_001793.6(CDH3):c.806T>C (p.Met269Thr)	CDH3 (M214T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 884779	NM_001793.6(CDH3):c.909G>T (p.Met303Ile)	CDH3 (M248I +1 more)	Single nucleotide variant (missense variant)	EEM syndrome +2 more	GConflicting classifications of pathogenicity
Select item 777040	NM_001793.6(CDH3):c.1117G>A (p.Asp373Asn)	CDH3 (D318N +1 more)	Single nucleotide variant (missense variant)	CDH3-related disorder +1 more	GLikely benign
Select item 2028808	NM_001793.6(CDH3):c.1377G>A (p.Val459=)	CDH3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 193847	NM_001793.6(CDH3):c.1436T>C (p.Leu479Pro)	CDH3 (L479P +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 193848	NM_001793.6(CDH3):c.1443C>T (p.Asp481=)	CDH3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1166074	NM_001793.6(CDH3):c.1568A>G (p.Asn523Ser)	CDH3 (N468S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 320244	NM_001793.6(CDH3):c.1681G>A (p.Val561Met)	CDH3 (V561M +1 more)	Single nucleotide variant (missense variant)	EEM syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1149545	NM_001793.6(CDH3):c.1818G>A (p.Leu606=)	CDH3	Single nucleotide variant (synonymous variant)	CDH3-related disorder +1 more	GLikely benign
Select item 1095249	NM_001793.6(CDH3):c.1842A>G (p.Thr614=)	CDH3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1611279	NM_001793.6(CDH3):c.1845T>C (p.Tyr615=)	CDH3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1125727	NM_001793.6(CDH3):c.1861C>T (p.Leu621=)	CDH3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3054276	NM_001793.6(CDH3):c.1899C>A (p.Ile633=)	CDH3	Single nucleotide variant (synonymous variant)	CDH3-related disorder	GLikely benign
Select item 3047743	NM_001793.6(CDH3):c.2281-90A>G	CDH3	Single nucleotide variant (synonymous variant +1 more)	CDH3-related disorder	GLikely benign
Select item 3041085	NM_001793.6(CDH3):c.2281-32C>T	CDH3 (R783C)	Single nucleotide variant (missense variant +1 more)	CDH3-related disorder	GLikely benign
Select item 320256	NM_001793.6(CDH3):c.2484C>T (p.Asp828=)	CDH3	Single nucleotide variant (3 prime UTR variant +1 more)	EEM syndrome +2 more	GConflicting classifications of pathogenicity
Select item 888063	NM_001793.6(CDH3):c.*3G>T	CDH3	Single nucleotide variant (3 prime UTR variant)	EEM syndrome +1 more	GConflicting classifications of pathogenicity

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Items: 25