"CDH2-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3051291	NM_001792.5(CDH2):c.*8G>C	CDH2	Single nucleotide variant (3 prime UTR variant)	CDH2-related disorder	GLikely benign
Select item 1642051	NM_001792.5(CDH2):c.2388G>A (p.Val796=)	CDH2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2636165	NM_001792.5(CDH2):c.2018C>G (p.Ala673Gly)	CDH2 (A642G +1 more)	Single nucleotide variant (missense variant)	CDH2-related disorder	GUncertain significance
Select item 1386296	NM_001792.5(CDH2):c.2016A>T (p.Glu672Asp)	CDH2 (E641D +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2631033	NM_001792.5(CDH2):c.2007A>T (p.Lys669Asn)	CDH2 (K638N +1 more)	Single nucleotide variant (missense variant)	CDH2-related disorder	GUncertain significance
Select item 1783912	NM_001792.5(CDH2):c.1989G>A (p.Gln663=)	CDH2	Single nucleotide variant (synonymous variant)	CDH2-related disorder +2 more	GLikely benign
Select item 1547398	NM_001792.5(CDH2):c.1537G>A (p.Gly513Ser)	CDH2 (G482S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3035069	NM_001792.5(CDH2):c.1446A>C (p.Ala482=)	CDH2	Single nucleotide variant (synonymous variant)	CDH2-related disorder	GLikely benign
Select item 1598999	NM_001792.5(CDH2):c.1104C>T (p.Ala368=)	CDH2	Single nucleotide variant (synonymous variant)	CDH2-related disorder +2 more	GBenign/Likely benign
Select item 1929519	NM_001792.5(CDH2):c.1043T>C (p.Ile348Thr)	CDH2 (I317T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1585237	NM_001792.5(CDH2):c.1020+9A>G	CDH2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 789103	NM_001792.5(CDH2):c.885C>T (p.Asp295=)	CDH2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 1642699	NM_001792.5(CDH2):c.865G>A (p.Val289Ile)	CDH2 (V258I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 733030	NM_001792.5(CDH2):c.848-4C>G	CDH2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1532718	NM_001792.5(CDH2):c.848-7T>C	CDH2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 789104	NM_001792.5(CDH2):c.702+6A>T	CDH2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1536300	NM_001792.5(CDH2):c.690A>C (p.Ile230=)	CDH2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1404384	NM_001792.5(CDH2):c.602G>A (p.Gly201Glu)	CDH2 (G170E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2637037	NM_001792.5(CDH2):c.596G>T (p.Gly199Val)	CDH2 (G168V +1 more)	Single nucleotide variant (missense variant)	CDH2-related disorder	GUncertain significance
Select item 1592474	NM_001792.5(CDH2):c.519G>A (p.Arg173=)	CDH2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 3029659	NM_001792.5(CDH2):c.410A>T (p.Glu137Val)	CDH2 (E106V +1 more)	Single nucleotide variant (missense variant)	CDH2-related disorder	GUncertain significance
Select item 1273467	NM_001792.5(CDH2):c.352G>A (p.Ala118Thr)	CDH2 (A118T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1245485	NM_001792.5(CDH2):c.333C>G (p.Thr111=)	CDH2	Single nucleotide variant (synonymous variant)	CDH2-related disorder +1 more	GBenign
Select item 1602629	NM_001792.5(CDH2):c.274A>G (p.Ser92Gly)	CDH2 (S61G +1 more)	Single nucleotide variant (missense variant)	CDH2-related disorder +1 more	GLikely benign
Select item 1673711	NM_001792.5(CDH2):c.189C>T (p.Cys63=)	CDH2	Single nucleotide variant (synonymous variant)	CDH2-related disorder +2 more	GBenign/Likely benign
Select item 2648628	NM_001792.5(CDH2):c.173-22589C>T	CDH2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1299948	NM_001792.5(CDH2):c.172+6A>C	CDH2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1670956	NM_001792.5(CDH2):c.141G>A (p.Lys47=)	CDH2	Single nucleotide variant (synonymous variant)	CDH2-related disorder +2 more	GBenign/Likely benign
Select item 710942	NM_001792.5(CDH2):c.90A>G (p.Ala30=)	CDH2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1631334	NM_001792.5(CDH2):c.43C>T (p.Leu15=)	CDH2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign

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Items: 30