"PreventionGenetics, part of Exact Sciences"[submitter] AND "CDH13"[ge - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3047153	NM_001257.5(CDH13):c.45+8A>G	CDH13	Single nucleotide variant (intron variant)	CDH13-related disorder	GLikely benign
Select item 257644	NM_001257.5(CDH13):c.45+12305C>T	CDH13 (P55S)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 3048874	NM_001257.5(CDH13):c.45+12327A>G	CDH13 (Q62R)	Single nucleotide variant (missense variant +1 more)	CDH13-related disorder	GBenign
Select item 257646	NM_001257.5(CDH13):c.45+12348T>G	CDH13	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 257648	NM_001257.5(CDH13):c.116A>G (p.Asn39Ser)	CDH13 (N86S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 257649	NM_001257.5(CDH13):c.207G>A (p.Ser69=)	CDH13	Single nucleotide variant (synonymous variant +1 more)	not specified	GBenign
Select item 2632383	NM_001257.5(CDH13):c.273del (p.Thr93fs)	CDH13 (T140fs +1 more)	Deletion (frameshift variant +1 more)	CDH13-related disorder	GUncertain significance
Select item 714137	NM_001257.5(CDH13):c.334G>A (p.Val112Ile)	CDH13 (V112I +1 more)	Single nucleotide variant (missense variant +1 more)	CDH13-related disorder +1 more	GBenign/Likely benign
Select item 730018	NM_001257.5(CDH13):c.337G>C (p.Gly113Arg)	CDH13 (G160R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 3057329	NM_001257.5(CDH13):c.477T>G (p.Val159=)	CDH13	Single nucleotide variant (synonymous variant +2 more)	CDH13-related disorder	GLikely benign
Select item 3034360	NM_001257.5(CDH13):c.484-36483del	CDH13	Deletion (intron variant)	CDH13-related disorder	GLikely benign
Select item 731681	NM_001257.5(CDH13):c.636+8C>T	CDH13	Single nucleotide variant (intron variant)	CDH13-related disorder +1 more	GBenign/Likely benign
Select item 3048992	NM_001257.5(CDH13):c.684G>A (p.Pro228=)	CDH13, LOC126862420	Single nucleotide variant (synonymous variant +1 more)	CDH13-related disorder	GLikely benign
Select item 3049177	NM_001257.5(CDH13):c.781+4T>A	CDH13, LOC126862420	Single nucleotide variant (intron variant)	CDH13-related disorder	GLikely benign
Select item 257650	NM_001257.5(CDH13):c.782-4G>A	CDH13	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 3052355	NM_001257.5(CDH13):c.783C>A (p.Gly261=)	CDH13	Single nucleotide variant (synonymous variant)	CDH13-related disorder	GLikely benign
Select item 3046746	NM_001257.5(CDH13):c.903C>T (p.Ile301=)	CDH13	Single nucleotide variant (synonymous variant)	CDH13-related disorder	GLikely benign
Select item 781728	NM_001257.5(CDH13):c.1099G>C (p.Glu367Gln)	CDH13 (E328Q +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 257641	NM_001257.5(CDH13):c.1102-6T>C	CDH13	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 3050077	NM_001257.5(CDH13):c.1116C>T (p.Val372=)	CDH13	Single nucleotide variant (synonymous variant)	CDH13-related disorder	GLikely benign
Select item 257642	NM_001257.5(CDH13):c.1126G>A (p.Ala376Thr)	CDH13 (A423T +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 3037553	NM_001257.5(CDH13):c.1260C>T (p.Asn420=)	CDH13	Single nucleotide variant (synonymous variant)	CDH13-related disorder	GLikely benign
Select item 257643	NM_001257.5(CDH13):c.1359C>T (p.Asp453=)	CDH13	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 759658	NM_001257.5(CDH13):c.1389C>T (p.Thr463=)	CDH13	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 257645	NM_001257.5(CDH13):c.1681+8C>G	CDH13, CEDORA	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3042892	NM_001257.5(CDH13):c.1731C>T (p.Asp577=)	CDH13	Single nucleotide variant (synonymous variant)	CDH13-related disorder	GLikely benign
Select item 3043561	NM_001257.5(CDH13):c.1749G>T (p.Pro583=)	CDH13	Single nucleotide variant (synonymous variant)	CDH13-related disorder	GLikely benign
Select item 2634177	NM_001257.5(CDH13):c.1753A>G (p.Ile585Val)	CDH13 (I331V +3 more)	Single nucleotide variant (missense variant)	CDH13-related disorder	GUncertain significance
Select item 257647	NM_001257.5(CDH13):c.2076A>G (p.Ala692=)	CDH13	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign

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Items: 29