"Eurofins Ntd Llc (ga)"[submitter] AND "CDH3"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 499900	NM_001793.6(CDH3):c.101C>T (p.Ala34Val)	CDH3, CDH3-AS1 (A34V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 290999	NM_001793.6(CDH3):c.119C>A (p.Ala40Glu)	CDH3, CDH3-AS1 (A40E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 285916	NM_001793.6(CDH3):c.345T>C (p.Ser115=)	CDH3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 285028	NM_001793.6(CDH3):c.805A>C (p.Met269Leu)	CDH3 (M269L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 497925	NM_001793.6(CDH3):c.821G>A (p.Arg274Gln)	CDH3 (R274Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 594037	NM_001793.6(CDH3):c.895C>T (p.Gln299Ter)	CDH3 (Q299* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 597729	NM_001793.6(CDH3):c.918C>T (p.Asp306=)	CDH3	Single nucleotide variant (synonymous variant)	EEM syndrome +1 more	GConflicting classifications of pathogenicity
Select item 594034	NM_001793.6(CDH3):c.1000G>A (p.Glu334Lys)	CDH3 (E334K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 320233	NM_001793.6(CDH3):c.1011G>C (p.Val337=)	CDH3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 290054	NM_001793.6(CDH3):c.1081G>T (p.Ala361Ser)	CDH3 (A361S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 291181	NM_001793.6(CDH3):c.1085G>A (p.Trp362Ter)	CDH3 (W362* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 499462	NM_001793.6(CDH3):c.1087C>T (p.Arg363Cys)	CDH3 (R363C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 320235	NM_001793.6(CDH3):c.1178G>A (p.Arg393Lys)	CDH3 (R393K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 500344	NM_001793.6(CDH3):c.1222G>A (p.Val408Ile)	CDH3 (V408I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 193847	NM_001793.6(CDH3):c.1436T>C (p.Leu479Pro)	CDH3 (L479P +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 193848	NM_001793.6(CDH3):c.1443C>T (p.Asp481=)	CDH3	Single nucleotide variant (synonymous variant)	EEM syndrome +1 more	GConflicting classifications of pathogenicity
Select item 283577	NM_001793.6(CDH3):c.1500C>T (p.Thr500=)	CDH3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 499468	NM_001793.6(CDH3):c.1652G>A (p.Arg551His)	CDH3 (R551H +1 more)	Single nucleotide variant (missense variant)	EEM syndrome +1 more	GUncertain significance
Select item 320244	NM_001793.6(CDH3):c.1681G>A (p.Val561Met)	CDH3 (V561M +1 more)	Single nucleotide variant (missense variant)	EEM syndrome +1 more	GConflicting classifications of pathogenicity
Select item 502620	NM_001793.6(CDH3):c.1704G>A (p.Thr568=)	CDH3	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 287341	NM_001793.6(CDH3):c.1785C>T (p.Val595=)	CDH3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 320249	NM_001793.6(CDH3):c.1932C>T (p.Val644=)	CDH3	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 194365	NM_001793.6(CDH3):c.2003-10A>G	CDH3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 281442	NM_001793.6(CDH3):c.2042G>A (p.Arg681Gln)	CDH3 (R681Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 93782	NM_001793.6(CDH3):c.2178G>A (p.Pro726=)	CDH3	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 93783	NM_001793.6(CDH3):c.2239C>A (p.Arg747=)	CDH3	Single nucleotide variant (synonymous variant)	Congenital hypotrichosis with juvenile macular dystrophy +3 more	GBenign
Select item 289717	NM_001793.6(CDH3):c.2364C>T (p.Asp788=)	CDH3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 283574	NM_001793.6(CDH3):c.2421T>G (p.Asp807Glu)	CDH3 (D807E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 287846	NM_001793.6(CDH3):c.2430C>T (p.Asn810=)	CDH3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 194620	NM_001793.6(CDH3):c.2475C>T (p.Gly825=)	CDH3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity

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Items: 30