Related gene-specific medical variations for Gene (Select 8506) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3375933	NM_003632.3(CNTNAP1):c.4073C>T (p.Ala1358Val)	CNTNAP1, LOC128669077 (A1358V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3268327	NM_003632.3(CNTNAP1):c.3975G>C (p.Glu1325Asp)	CNTNAP1, LOC128669077 (E1325D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3268324	NM_003632.3(CNTNAP1):c.4055C>A (p.Ala1352Asp)	CNTNAP1, LOC128669077 (A1352D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3045193	NM_003632.3(CNTNAP1):c.3960C>T (p.Pro1320=)	CNTNAP1, LOC128669077	Single nucleotide variant (synonymous variant)	CNTNAP1-related disorder	GLikely benign
Select item 3030372	NM_003632.3(CNTNAP1):c.4077A>C (p.Pro1359=)	CNTNAP1, LOC128669077	Single nucleotide variant (synonymous variant)	CNTNAP1-related disorder	GLikely benign
Select item 2960694	NM_003632.3(CNTNAP1):c.169+12G>T	CNTNAP1, LOC125177481	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2688807	NM_003632.3(CNTNAP1):c.2341G>C (p.Asp781His)	CNTNAP1 (D781H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688806	NM_003632.3(CNTNAP1):c.391G>A (p.Ala131Thr)	CNTNAP1 (A131T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683424	NM_003632.3(CNTNAP1):c.4021C>G (p.Gln1341Glu)	CNTNAP1, LOC128669077 (Q1341E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2647803	NM_003632.3(CNTNAP1):c.3972C>T (p.His1324=)	CNTNAP1, LOC128669077	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2608771	NM_003632.3(CNTNAP1):c.172A>G (p.Ile58Val)	CNTNAP1, LOC125177481 (I58V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557926	NM_003632.3(CNTNAP1):c.136C>A (p.Leu46Ile)	CNTNAP1, LOC125177481 (L46I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514187	NM_003632.3(CNTNAP1):c.3995C>T (p.Pro1332Leu)	CNTNAP1, LOC128669077 (P1332L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2481477	NM_003632.3(CNTNAP1):c.4049A>G (p.Asn1350Ser)	CNTNAP1, LOC128669077 (N1350S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2440175	NM_003632.3(CNTNAP1):c.3814+2T>A	CNTNAP1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2440174	NM_003632.3(CNTNAP1):c.67T>C (p.Tyr23His)	CNTNAP1 (Y23H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439167	NM_003632.3(CNTNAP1):c.2089C>T (p.Arg697Ter)	CNTNAP1 (R697*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2435747	NM_003632.3(CNTNAP1):c.1735+1G>A	CNTNAP1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2428581	NM_003632.3(CNTNAP1):c.980T>A (p.Val327Glu)	CNTNAP1 (V327E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2230851	NM_003632.3(CNTNAP1):c.68-4C>T	CNTNAP1, LOC125177481	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2225206	NM_003632.3(CNTNAP1):c.4084_4095del (p.Thr1362_Pro1365del)	CNTNAP1, LOC128669077	Deletion (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 2215920	NM_003632.3(CNTNAP1):c.4069C>T (p.Pro1357Ser)	CNTNAP1, LOC128669077 (P1357S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2184187	NM_003632.3(CNTNAP1):c.4109G>A (p.Arg1370Gln)	CNTNAP1, LOC128669077 (R1370Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2135704	NM_003632.3(CNTNAP1):c.4058C>T (p.Pro1353Leu)	CNTNAP1, LOC128669077 (P1353L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2119615	NM_003632.3(CNTNAP1):c.71G>A (p.Gly24Asp)	CNTNAP1, LOC125177481 (G24D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2105500	NM_003632.3(CNTNAP1):c.177C>A (p.Ser59Arg)	CNTNAP1, LOC125177481 (S59R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2092980	NM_003632.3(CNTNAP1):c.4111dup (p.Asp1371fs)	CNTNAP1, LOC128669077 (D1371fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2066755	NM_003632.3(CNTNAP1):c.3964G>A (p.Ala1322Thr)	CNTNAP1, LOC128669077 (A1322T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2066754	NM_003632.3(CNTNAP1):c.3950C>G (p.Thr1317Ser)	CNTNAP1, LOC128669077 (T1317S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2048757	NM_003632.3(CNTNAP1):c.72C>T (p.Gly24=)	CNTNAP1, LOC125177481	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1949509	NM_003632.3(CNTNAP1):c.169+11C>T	CNTNAP1, LOC125177481	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1944776	NM_003632.3(CNTNAP1):c.3998C>T (p.Pro1333Leu)	CNTNAP1, LOC128669077 (P1333L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1939576	NM_003632.3(CNTNAP1):c.4143C>T (p.Ser1381=)	CNTNAP1, LOC128669077	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1809743	NM_003632.3(CNTNAP1):c.984del (p.Phe329fs)	CNTNAP1 (F329fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1703491	NM_003632.3(CNTNAP1):c.74G>T (p.Cys25Phe)	CNTNAP1, LOC125177481 (C25F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1703341	NM_003632.3(CNTNAP1):c.170-6C>G	CNTNAP1, LOC125177481	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1693283	NM_003632.3(CNTNAP1):c.3394C>T (p.Gln1132Ter)	CNTNAP1 (Q1132*)	Single nucleotide variant (nonsense)	Congenital hypomyelination neuropathy with or without arthrogryposis	GLikely pathogenic
Select item 1674655	NM_003632.3(CNTNAP1):c.4026C>T (p.Val1342=)	CNTNAP1, LOC128669077	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1669568	NM_003632.3(CNTNAP1):c.3978C>T (p.Tyr1326=)	CNTNAP1, LOC128669077	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1665557	NM_003632.3(CNTNAP1):c.4026C>A (p.Val1342=)	CNTNAP1, LOC128669077	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1623827	NM_003632.3(CNTNAP1):c.68-19G>A	CNTNAP1, LOC125177481	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1531882	NM_003632.3(CNTNAP1):c.165G>C (p.Leu55=)	CNTNAP1, LOC125177481	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1428021	NM_003632.3(CNTNAP1):c.70G>C (p.Gly24Arg)	CNTNAP1, LOC125177481 (G24R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1398741	NM_003632.3(CNTNAP1):c.4083_4100del (p.Thr1362_Pro1367del)	CNTNAP1, LOC128669077	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1167004	NM_003632.3(CNTNAP1):c.68-20_68-19insT	CNTNAP1, LOC125177481	Insertion (intron variant)	not provided	GBenign
Select item 1163604	NM_003632.3(CNTNAP1):c.4031C>T (p.Thr1344Ile)	CNTNAP1, LOC128669077 (T1344I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163603	NM_003632.3(CNTNAP1):c.3972C>G (p.His1324Gln)	CNTNAP1, LOC128669077 (H1324Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 996788	NM_003632.3(CNTNAP1):c.1044+1G>A	CNTNAP1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
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)	Lethal congenital contracture syndrome 7 +2 more	GBenign
Select item 798838	NM_003632.3(CNTNAP1):c.87G>A (p.Leu29=)	CNTNAP1, LOC125177481	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 692274	NM_003632.3(CNTNAP1):c.69C>G (p.Tyr23Ter)	CNTNAP1, LOC125177481 (Y23*)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita +1 more	GPathogenic
Select item 523825	NM_003632.3(CNTNAP1):c.4021C>T (p.Gln1341Ter)	CNTNAP1, LOC128669077 (Q1341*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 55