ClinVar for MedGen (Select 894160) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664879	NM_003632.3(CNTNAP1):c.2152_2154del (p.Gly718del)	CNTNAP1 (G718del)	Deletion (inframe_deletion)	Lethal congenital contracture syndrome 7	GUncertain significance
Select item 1679401	NM_003632.3(CNTNAP1):c.1046G>T (p.Gly349Val)	CNTNAP1 (G349V)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 7	GLikely pathogenic
Select item 1679372	NM_003632.3(CNTNAP1):c.1823del (p.Leu608fs)	CNTNAP1 (L608fs)	Deletion (frameshift variant)	Lethal congenital contracture syndrome 7	GLikely pathogenic
Select item 1252013	NM_003632.3(CNTNAP1):c.2515C>T (p.Arg839Trp)	CNTNAP1 (R839W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1217320	NM_003632.3(CNTNAP1):c.1736-22G>A	CNTNAP1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1217319	NM_003632.3(CNTNAP1):c.364-34A>G	CNTNAP1	Single nucleotide variant (intron variant)	Neuropathy, congenital hypomyelinating, 3 +2 more	GBenign
Select item 1032140	NM_003632.3(CNTNAP1):c.3657_3660dup (p.Leu1221fs)	CNTNAP1 (L1221fs)	Duplication (frameshift variant)	Lethal congenital contracture syndrome 7	GPathogenic
Select item 1031348	NM_003632.3(CNTNAP1):c.2930G>A (p.Arg977His)	CNTNAP1 (R977H)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 7	GUncertain significance
Select item 984430	GRCh37/hg19 17q21.2(chr17:40842168-40846218)x1	CNTNAP1	Copy number loss	Lethal congenital contracture syndrome 7	GPathogenic
Select item 803394	NM_003632.3(CNTNAP1):c.151A>C (p.Arg51=)	CNTNAP1, LOC125177481	Single nucleotide variant (synonymous variant)	Neuropathy, congenital hypomyelinating, 3 +2 more	GBenign
Select item 781302	NM_003632.3(CNTNAP1):c.327C>T (p.Asp109=)	CNTNAP1	Single nucleotide variant (synonymous variant)	Lethal congenital contracture syndrome 7 +2 more	GBenign/Likely benign
Select item 773317	NM_003632.3(CNTNAP1):c.2340C>A (p.Gly780=)	CNTNAP1	Single nucleotide variant (synonymous variant)	Lethal congenital contracture syndrome 7 +2 more	GBenign/Likely benign
Select item 692016	NM_003632.3(CNTNAP1):c.2668C>T (p.Arg890Ter)	CNTNAP1 (R890*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 522842	NM_003632.3(CNTNAP1):c.1163G>C (p.Arg388Pro)	CNTNAP1 (R388P)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 7 +1 more	GConflicting classifications of pathogenicity
Select item 427821	NM_003632.2(CNTNAP1):c.[1869G>A];[967T>C]			Lethal congenital contracture syndrome 7	GPathogenic
Select item 266117	NM_003632.3(CNTNAP1):c.2444C>A (p.Thr815Asn)	CNTNAP1 (T815N)	Single nucleotide variant (missense variant)	Lethal congenital contracture syndrome 7	GLikely pathogenic
Select item 254173	NM_003632.3(CNTNAP1):c.1561dup (p.Leu521fs)	CNTNAP1 (L521fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 204313	NM_003632.3(CNTNAP1):c.2901_2902del (p.Cys968fs)	CNTNAP1 (C968fs)	Deletion (frameshift variant)	Neuropathy, congenital hypomyelinating, 3 +2 more	GPathogenic
Select item 189262	NM_003632.3(CNTNAP1):c.2993-1_2995del	CNTNAP1	Deletion (splice acceptor variant)	Lethal congenital contracture syndrome 7	GPathogenic
Select item 189261	NM_003632.3(CNTNAP1):c.3009dup (p.Glu1004Ter)	CNTNAP1 (E1004*)	Duplication (nonsense)	Lethal congenital contracture syndrome 7	GPathogenic

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Items: 20