CNTNAP5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153085	GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)x1	AMMECR1L, BIN1 +254 more	Copy number loss	See cases	GPathogenic
Select item 60184	GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	ACMSD, AMER3 +391 more	Copy number loss	See cases	GPathogenic
Select item 60185	GRCh38/hg38 2q14.3(chr2:121824798-128870804)x1	AMMECR1L, BIN1 +121 more	Copy number loss	See cases	GPathogenic
Select item 148544	GRCh38/hg38 2q14.3(chr2:122035096-124575251)x3	CNTNAP5, CNTNAP5-DT +8 more	Copy number gain	See cases	GLikely benign
Select item 60186	GRCh38/hg38 2q14.3(chr2:122324343-128371704)x1	LOC115945190, LOC120961783 +101 more	Copy number loss	See cases	GPathogenic
Select item 149024	GRCh38/hg38 2q14.3(chr2:122847356-126223861)x1	CNTNAP5, CNTNAP5-DT +7 more	Copy number loss	See cases	GUncertain significance
Select item 148393	GRCh38/hg38 2q14.3-21.1(chr2:122847356-129545581)x1	AMMECR1L, BIN1 +116 more	Copy number loss	See cases	GLikely pathogenic
Select item 146132	GRCh38/hg38 2q14.3(chr2:123169989-128460075)x1	AMMECR1L, BIN1 +100 more	Copy number loss	See cases	GPathogenic
Select item 147544	GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	ACMSD, AMER3 +336 more	Copy number loss	See cases	GPathogenic
Select item 58901	GRCh38/hg38 2q14.3(chr2:123969752-124253670)x3	CNTNAP5, CNTNAP5-DT	Copy number gain	See cases	GUncertain significance
Select item 2252244	NM_001367498.1(CNTNAP5):c.57G>T (p.Trp19Cys)	CNTNAP5 (W19C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780098	NM_001367498.1(CNTNAP5):c.80A>C (p.Asn27Thr)	CNTNAP5 (N27T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2631676	NM_001367498.1(CNTNAP5):c.187+1G>A	CNTNAP5	Single nucleotide variant (splice donor variant)	CNTNAP5-related disorder	GUncertain significance
Select item 2535526	NM_001367498.1(CNTNAP5):c.191C>T (p.Thr64Ile)	CNTNAP5 (T64I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146908	NM_001367498.1(CNTNAP5):c.228G>C (p.Gln76His)	CNTNAP5 (Q76H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043054	NM_001367498.1(CNTNAP5):c.279G>A (p.Thr93=)	CNTNAP5	Single nucleotide variant (synonymous variant)	CNTNAP5-related disorder	GLikely benign
Select item 710619	NM_001367498.1(CNTNAP5):c.291C>T (p.Tyr97=)	CNTNAP5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2688812	NM_001367498.1(CNTNAP5):c.292G>A (p.Gly98Arg)	CNTNAP5 (G98R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3049708	NM_001367498.1(CNTNAP5):c.345C>T (p.Arg115=)	CNTNAP5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 148591	GRCh38/hg38 2q14.3(chr2:124285162-125329706)x3	CNTNAP5, LOC126806340	Copy number gain	See cases	GUncertain significance
Select item 1180433	NC_000002.12:g.124348648_129410245del	LOC129934710, LOC129934711 +112 more	Deletion	See cases	Gnot provided
Select item 3045076	NM_001367498.1(CNTNAP5):c.411C>T (p.Ser137=)	CNTNAP5	Single nucleotide variant (synonymous variant)	CNTNAP5-related disorder	GBenign
Select item 3146921	NM_001367498.1(CNTNAP5):c.412G>A (p.Val138Met)	CNTNAP5 (V138M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556129	NM_001367498.1(CNTNAP5):c.458G>A (p.Arg153His)	CNTNAP5 (R153H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454607	NM_001367498.1(CNTNAP5):c.557G>A (p.Arg186Gln)	CNTNAP5 (R186Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146922	NM_001367498.1(CNTNAP5):c.587A>G (p.Lys196Arg)	CNTNAP5 (K196R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146923	NM_001367498.1(CNTNAP5):c.593T>A (p.Met198Lys)	CNTNAP5 (M198K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039860	NM_001367498.1(CNTNAP5):c.618C>T (p.Ser206=)	CNTNAP5	Single nucleotide variant (synonymous variant)	CNTNAP5-related disorder	GLikely benign
Select item 2488187	NM_001367498.1(CNTNAP5):c.636G>A (p.Met212Ile)	CNTNAP5 (M212I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402817	NM_001367498.1(CNTNAP5):c.715G>A (p.Ala239Thr)	CNTNAP5 (A239T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613286	NM_001367498.1(CNTNAP5):c.722A>G (p.His241Arg)	CNTNAP5 (H241R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 984498	NM_001367498.1(CNTNAP5):c.733+2T>C	CNTNAP5	Single nucleotide variant (splice donor variant)	not specified	GUncertain significance
Select item 2597740	NM_001367498.1(CNTNAP5):c.748C>T (p.Arg250Trp)	CNTNAP5 (R250W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778821	NM_001367498.1(CNTNAP5):c.752T>C (p.Leu251Pro)	CNTNAP5 (L251P)	Single nucleotide variant (missense variant)	CNTNAP5-related disorder +1 more	GLikely benign
Select item 2468418	NM_001367498.1(CNTNAP5):c.893C>T (p.Thr298Met)	CNTNAP5 (T298M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252406	NM_001367498.1(CNTNAP5):c.909T>G (p.Ile303Met)	CNTNAP5 (I303M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1299455	NM_001367498.1(CNTNAP5):c.938C>G (p.Pro313Arg)	CNTNAP5 (P313R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2457527	NM_001367498.1(CNTNAP5):c.1007A>G (p.Asn336Ser)	CNTNAP5 (N336S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146902	NM_001367498.1(CNTNAP5):c.1033A>G (p.Lys345Glu)	CNTNAP5 (K345E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688810	NM_001367498.1(CNTNAP5):c.1039C>T (p.Arg347Ter)	CNTNAP5 (R347*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2264161	NM_001367498.1(CNTNAP5):c.1046A>T (p.His349Leu)	CNTNAP5 (H349L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479195	NM_001367498.1(CNTNAP5):c.1055A>G (p.Tyr352Cys)	CNTNAP5 (Y352C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 743071	NM_001367498.1(CNTNAP5):c.1092A>G (p.Pro364=)	CNTNAP5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 755964	NM_001367498.1(CNTNAP5):c.1155C>G (p.Pro385=)	CNTNAP5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2366759	NM_001367498.1(CNTNAP5):c.1260C>G (p.Ser420Arg)	CNTNAP5 (S420R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237110	NM_001367498.1(CNTNAP5):c.1306C>T (p.Arg436Cys)	CNTNAP5 (R435C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789966	NM_001367498.1(CNTNAP5):c.1328-7C>T	CNTNAP5	Single nucleotide variant (intron variant)	CNTNAP5-related disorder +1 more	GBenign
Select item 3034427	NM_001367498.1(CNTNAP5):c.1332C>T (p.Ser444=)	CNTNAP5	Single nucleotide variant (synonymous variant)	CNTNAP5-related disorder	GLikely benign
Select item 3056463	NM_001367498.1(CNTNAP5):c.1358C>T (p.Ser453Leu)	CNTNAP5 (S452L +1 more)	Single nucleotide variant (missense variant)	CNTNAP5-related disorder	GBenign
Select item 2528091	NM_001367498.1(CNTNAP5):c.1372G>A (p.Ala458Thr)	CNTNAP5 (A457T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146903	NM_001367498.1(CNTNAP5):c.1375A>T (p.Arg459Trp)	CNTNAP5 (R459W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355104	NM_001367498.1(CNTNAP5):c.1384C>T (p.Arg462Cys)	CNTNAP5 (R462C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044645	NM_001367498.1(CNTNAP5):c.1485C>T (p.Pro495=)	CNTNAP5	Single nucleotide variant (synonymous variant)	CNTNAP5-related disorder	GLikely benign
Select item 2366572	NM_001367498.1(CNTNAP5):c.1519A>G (p.Ile507Val)	CNTNAP5 (I507V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146904	NM_001367498.1(CNTNAP5):c.1576C>T (p.Leu526Phe)	CNTNAP5 (L526F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276309	NM_001367498.1(CNTNAP5):c.1595G>T (p.Gly532Val)	CNTNAP5 (G531V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688811	NM_001367498.1(CNTNAP5):c.1598C>A (p.Ser533Tyr)	CNTNAP5 (S532Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3045724	NM_001367498.1(CNTNAP5):c.1776C>T (p.Cys592=)	CNTNAP5	Single nucleotide variant (synonymous variant)	CNTNAP5-related disorder	GBenign
Select item 773125	NM_001367498.1(CNTNAP5):c.1806C>T (p.Ala602=)	CNTNAP5	Single nucleotide variant (synonymous variant)	CNTNAP5-related disorder +1 more	GBenign/Likely benign
Select item 2394772	NM_001367498.1(CNTNAP5):c.1886T>C (p.Ile629Thr)	CNTNAP5 (I628T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146905	NM_001367498.1(CNTNAP5):c.1925G>C (p.Arg642Pro)	CNTNAP5 (R642P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521279	NM_001367498.1(CNTNAP5):c.1939A>C (p.Asn647His)	CNTNAP5 (N646H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146906	NM_001367498.1(CNTNAP5):c.1951C>T (p.Pro651Ser)	CNTNAP5 (P650S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651324	NM_001367498.1(CNTNAP5):c.1971C>G (p.Asp657Glu)	CNTNAP5 (D656E +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2377099	NM_001367498.1(CNTNAP5):c.1975G>A (p.Gly659Arg)	CNTNAP5 (G658R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602792	NM_001367498.1(CNTNAP5):c.2021A>G (p.His674Arg)	CNTNAP5 (H673R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470062	NM_001367498.1(CNTNAP5):c.2050A>G (p.Arg684Gly)	CNTNAP5 (R683G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390975	NM_001367498.1(CNTNAP5):c.2075C>T (p.Pro692Leu)	CNTNAP5 (P691L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716759	NM_001367498.1(CNTNAP5):c.2078A>G (p.Asp693Gly)	CNTNAP5 (D692G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2688808	NM_001367498.1(CNTNAP5):c.2103dup (p.Gly702fs)	CNTNAP5 (G701fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2327005	NM_001367498.1(CNTNAP5):c.2125C>T (p.Pro709Ser)	CNTNAP5 (P708S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235843	NM_001367498.1(CNTNAP5):c.2126C>G (p.Pro709Arg)	CNTNAP5 (P709R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146907	NM_001367498.1(CNTNAP5):c.2138G>T (p.Gly713Val)	CNTNAP5 (G712V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235844	NM_001367498.1(CNTNAP5):c.2143C>T (p.Pro715Ser)	CNTNAP5 (P714S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777957	NM_001367498.1(CNTNAP5):c.2153T>C (p.Val718Ala)	CNTNAP5 (V717A +1 more)	Single nucleotide variant (missense variant)	CNTNAP5-related disorder +1 more	GBenign
Select item 710313	NM_001367498.1(CNTNAP5):c.2234+10A>C	CNTNAP5	Single nucleotide variant (intron variant)	CNTNAP5-related disorder +1 more	GBenign
Select item 2203983	NM_001367498.1(CNTNAP5):c.2237C>A (p.Thr746Lys)	CNTNAP5 (T745K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395675	NM_001367498.1(CNTNAP5):c.2252T>C (p.Phe751Ser)	CNTNAP5 (F750S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 737253	NM_001367498.1(CNTNAP5):c.2280C>G (p.Val760=)	CNTNAP5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3146909	NM_001367498.1(CNTNAP5):c.2326G>T (p.Ala776Ser)	CNTNAP5 (A776S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 750497	NM_001367498.1(CNTNAP5):c.2487C>T (p.Phe829=)	CNTNAP5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2247439	NM_001367498.1(CNTNAP5):c.2515A>G (p.Ile839Val)	CNTNAP5 (I839V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 738257	NM_001367498.1(CNTNAP5):c.2533+3A>G	CNTNAP5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2370621	NM_001367498.1(CNTNAP5):c.2536C>T (p.Pro846Ser)	CNTNAP5 (P846S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282263	NM_001367498.1(CNTNAP5):c.2549C>G (p.Thr850Ser)	CNTNAP5 (T849S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252994	NM_001367498.1(CNTNAP5):c.2596T>A (p.Ser866Thr)	CNTNAP5 (S866T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051191	NM_001367498.1(CNTNAP5):c.2619C>T (p.Asn873=)	CNTNAP5	Single nucleotide variant (synonymous variant)	CNTNAP5-related disorder	GLikely benign
Select item 2359969	NM_001367498.1(CNTNAP5):c.2702C>T (p.Thr901Met)	CNTNAP5 (T901M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146911	NM_001367498.1(CNTNAP5):c.2758A>G (p.Thr920Ala)	CNTNAP5 (T919A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041264	NM_001367498.1(CNTNAP5):c.2790C>T (p.Cys930=)	CNTNAP5	Single nucleotide variant (synonymous variant)	CNTNAP5-related disorder	GLikely benign
Select item 3146912	NM_001367498.1(CNTNAP5):c.2844G>T (p.Lys948Asn)	CNTNAP5 (K947N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736908	NM_001367498.1(CNTNAP5):c.2863C>T (p.Pro955Ser)	CNTNAP5 (P954S +1 more)	Single nucleotide variant (missense variant)	CNTNAP5-related disorder +1 more	GLikely benign
Select item 2588012	NM_001367498.1(CNTNAP5):c.2873C>T (p.Pro958Leu)	CNTNAP5 (P958L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2635396	NM_001367498.1(CNTNAP5):c.2876del (p.Gly959fs)	CNTNAP5 (G958fs +1 more)	Deletion (frameshift variant)	CNTNAP5-related disorder	GUncertain significance
Select item 3146913	NM_001367498.1(CNTNAP5):c.2893G>A (p.Gly965Ser)	CNTNAP5 (G964S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146914	NM_001367498.1(CNTNAP5):c.2926G>A (p.Glu976Lys)	CNTNAP5 (E975K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714037	NM_001367498.1(CNTNAP5):c.2992+5C>G	CNTNAP5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 3146915	NM_001367498.1(CNTNAP5):c.3067A>G (p.Ile1023Val)	CNTNAP5 (I1023V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478986	NM_001367498.1(CNTNAP5):c.3104C>T (p.Ala1035Val)	CNTNAP5 (A1034V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215413	NM_001367498.1(CNTNAP5):c.3119A>G (p.Asn1040Ser)	CNTNAP5 (N1039S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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