"PreventionGenetics, part of Exact Sciences"[submitter] AND "NECTIN1"[ - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3047032	NM_203285.2(NECTIN1):c.1227G>A (p.Gln409=)	NECTIN1	Single nucleotide variant (synonymous variant)	NECTIN1-related disorder	GLikely benign
Select item 3045303	NM_203285.2(NECTIN1):c.1053G>C (p.Ala351=)	NECTIN1	Single nucleotide variant (synonymous variant)	NECTIN1-related disorder	GLikely benign
Select item 721451	NM_002855.5(NECTIN1):c.1548C>T (p.Tyr516=)	NECTIN1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 716974	NM_002855.5(NECTIN1):c.1347C>T (p.Gly449=)	NECTIN1	Single nucleotide variant (synonymous variant +1 more)	NECTIN1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 779437	NM_002855.5(NECTIN1):c.1310AGG[10] (p.Glu443_Glu444dup)	NECTIN1	Microsatellite (inframe_insertion +1 more)	NECTIN1-related disorder +1 more	GBenign
Select item 3049712	NM_002855.5(NECTIN1):c.1020G>A (p.Pro340=)	NECTIN1	Single nucleotide variant (synonymous variant +1 more)	NECTIN1-related disorder	GLikely benign
Select item 3037481	NM_002855.5(NECTIN1):c.1003+557G>T	NECTIN1 (R350M)	Single nucleotide variant (missense variant +1 more)	NECTIN1-related disorder	GBenign
Select item 3044722	NM_002855.5(NECTIN1):c.1003+534G>A	NECTIN1	Single nucleotide variant (synonymous variant +1 more)	NECTIN1-related disorder	GLikely benign
Select item 709934	NM_002855.5(NECTIN1):c.596G>A (p.Arg199Gln)	NECTIN1 (R199Q)	Single nucleotide variant (missense variant)	NECTIN1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 719352	NM_002855.5(NECTIN1):c.375G>A (p.Glu125=)	NECTIN1	Single nucleotide variant (synonymous variant)	NECTIN1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 716975	NM_002855.5(NECTIN1):c.264C>T (p.Ser88=)	NECTIN1	Single nucleotide variant (synonymous variant)	Cleft lip/palate-ectodermal dysplasia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3052918	NM_002855.5(NECTIN1):c.138C>T (p.Asp46=)	NECTIN1	Single nucleotide variant (synonymous variant)	NECTIN1-related disorder	GLikely benign
Select item 786830	NM_002855.5(NECTIN1):c.130G>A (p.Gly44Ser)	NECTIN1 (G44S)	Single nucleotide variant (missense variant)	NECTIN1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3049826	NM_002855.5(NECTIN1):c.81C>T (p.Gly27=)	NECTIN1	Single nucleotide variant (synonymous variant)	NECTIN1-related disorder	GLikely benign
Select item 731305	NM_002855.5(NECTIN1):c.81C>A (p.Gly27=)	NECTIN1	Single nucleotide variant (synonymous variant)	NECTIN1-related disorder +1 more	GLikely benign
Select item 3031107	NM_002855.5(NECTIN1):c.79+9G>A	NECTIN1	Single nucleotide variant (intron variant)	NECTIN1-related disorder	GLikely benign
Select item 731361	NM_002855.5(NECTIN1):c.79+4A>G	NECTIN1	Single nucleotide variant (intron variant)	Cleft lip/palate-ectodermal dysplasia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3049385	NM_002855.5(NECTIN1):c.63C>T (p.Thr21=)	NECTIN1	Single nucleotide variant (synonymous variant)	NECTIN1-related disorder	GLikely benign