ClinVar for MedGen (Select 1648417) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3251978	NM_003632.3(CNTNAP1):c.3814+1G>C	CNTNAP1	Single nucleotide variant (splice donor variant)	Lethal congenital contracture syndrome 7 +1 more	GLikely pathogenic
Select item 3233397	NM_003632.3(CNTNAP1):c.3629T>C (p.Leu1210Pro)	CNTNAP1 (L1210P)	Single nucleotide variant (missense variant)	Neuropathy, congenital hypomyelinating, 3	GUncertain significance
Select item 2671767	NM_003632.3(CNTNAP1):c.1446T>G (p.Tyr482Ter)	CNTNAP1 (Y482*)	Single nucleotide variant (nonsense)	Neuropathy, congenital hypomyelinating, 3	GLikely pathogenic
Select item 2300952	NM_003632.3(CNTNAP1):c.3239C>T (p.Thr1080Met)	CNTNAP1 (T1080M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1979310	NM_003632.3(CNTNAP1):c.4066GCCCCA[4] (p.Pro1361_Thr1362insAlaPro)	CNTNAP1, LOC128669077	Microsatellite (inframe_insertion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1810516	NM_003632.3(CNTNAP1):c.3218G>A (p.Arg1073His)	CNTNAP1 (R1073H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1429872	NM_003632.3(CNTNAP1):c.3560G>A (p.Arg1187His)	CNTNAP1 (R1187H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1347833	NM_003632.3(CNTNAP1):c.1699G>A (p.Glu567Lys)	CNTNAP1 (E567K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1236198	NM_003632.3(CNTNAP1):c.2198A>G (p.Asp733Gly)	CNTNAP1 (D733G)	Single nucleotide variant (missense variant)	Neuropathy, congenital hypomyelinating, 3	GLikely pathogenic
Select item 1219168	NM_003632.3(CNTNAP1):c.3361C>T (p.Arg1121Ter)	CNTNAP1 (R1121*)	Single nucleotide variant (nonsense)	Neuropathy, congenital hypomyelinating, 3 +1 more	GPathogenic
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)	not provided +2 more	GBenign
Select item 803394	NM_003632.3(CNTNAP1):c.151A>C (p.Arg51=)	CNTNAP1, LOC125177481	Single nucleotide variant (synonymous variant)	Lethal congenital contracture syndrome 7 +2 more	GBenign
Select item 781302	NM_003632.3(CNTNAP1):c.327C>T (p.Asp109=)	CNTNAP1	Single nucleotide variant (synonymous variant)	Neuropathy, congenital hypomyelinating, 3 +2 more	GBenign/Likely benign
Select item 773317	NM_003632.3(CNTNAP1):c.2340C>A (p.Gly780=)	CNTNAP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 590918	NM_003632.3(CNTNAP1):c.1677G>A (p.Trp559Ter)	CNTNAP1 (W559*)	Single nucleotide variant (nonsense)	Neuropathy, congenital hypomyelinating, 3	GPathogenic
Select item 590914	NM_003632.3(CNTNAP1):c.2290C>T (p.Arg764Cys)	CNTNAP1 (R764C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 590913	NM_003632.3(CNTNAP1):c.2011C>T (p.Gln671Ter)	CNTNAP1 (Q671*)	Single nucleotide variant (nonsense)	Neuropathy, congenital hypomyelinating, 3	GPathogenic
Select item 590912	NM_003632.3(CNTNAP1):c.635T>C (p.Leu212Pro)	CNTNAP1 (L212P)	Single nucleotide variant (missense variant)	Neuropathy, congenital hypomyelinating, 3	GPathogenic
Select item 560980	NM_003632.3(CNTNAP1):c.2015G>A (p.Trp672Ter)	CNTNAP1 (W672*)	Single nucleotide variant (nonsense)	Arthrogryposis, distal, type 1A	GPathogenic
Select item 522842	NM_003632.3(CNTNAP1):c.1163G>C (p.Arg388Pro)	CNTNAP1 (R388P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 242387	NM_003632.3(CNTNAP1):c.1869G>A (p.Trp623Ter)	CNTNAP1 (W623*)	Single nucleotide variant (nonsense)	Neuropathy, congenital hypomyelinating, 3	GPathogenic
Select item 242386	NM_003632.3(CNTNAP1):c.967T>C (p.Cys323Arg)	CNTNAP1 (C323R)	Single nucleotide variant (missense variant)	Neuropathy, congenital hypomyelinating, 3	GLikely pathogenic
Select item 204313	NM_003632.3(CNTNAP1):c.2901_2902del (p.Cys968fs)	CNTNAP1 (C968fs)	Deletion (frameshift variant)	Neuropathy, congenital hypomyelinating, 3 +2 more	GPathogenic

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Items: 25