AKNAD1[gene] - ClinVar

Search results

Items: 91

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146007	GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1	AGL, AKNAD1 +195 more	Copy number loss	See cases	GPathogenic
Select item 60005	GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1	AGL, AHCYL1 +333 more	Copy number loss	See cases	GPathogenic
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 545138	NC_000001.11:g.(?_103175204)_(111410059_?)del	AHCYL1, AKNAD1 +242 more	Deletion	Autism	GLikely pathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 60009	GRCh38/hg38 1p21.1-13.3(chr1:106074587-110144290)x1	AHCYL1, AKNAD1 +148 more	Copy number loss	See cases	GPathogenic
Select item 146897	GRCh38/hg38 1p13.3(chr1:108807502-109134584)x3	AKNAD1, CFAP276 +21 more	Copy number gain	See cases	GUncertain significance
Select item 2343867	NM_152763.5(AKNAD1):c.2505A>C (p.Lys835Asn)	AKNAD1 (K835N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552839	NM_152763.5(AKNAD1):c.2498G>A (p.Arg833Gln)	AKNAD1 (R833Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2559642	NM_152763.5(AKNAD1):c.2456C>T (p.Thr819Met)	AKNAD1 (T819M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2216336	NM_152763.5(AKNAD1):c.2370A>G (p.Ile790Met)	AKNAD1 (I790M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314891	NM_152763.5(AKNAD1):c.2350T>G (p.Phe784Val)	AKNAD1 (F784V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107439	NM_152763.5(AKNAD1):c.2284G>A (p.Asp762Asn)	AKNAD1 (D762N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220433	NM_152763.5(AKNAD1):c.2236C>T (p.Pro746Ser)	AKNAD1 (P746S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314389	NM_152763.5(AKNAD1):c.2203G>A (p.Val735Met)	AKNAD1 (V735M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326356	NM_152763.5(AKNAD1):c.2156A>G (p.Asn719Ser)	AKNAD1 (N719S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251337	NM_152763.5(AKNAD1):c.2104C>T (p.His702Tyr)	AKNAD1 (H702Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371171	NM_152763.5(AKNAD1):c.2039G>T (p.Cys680Phe)	AKNAD1 (C680F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2613393	NM_152763.5(AKNAD1):c.1912G>A (p.Ala638Thr)	AKNAD1 (A638T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234765	NM_152763.5(AKNAD1):c.1904A>G (p.His635Arg)	AKNAD1 (H635R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612523	NM_152763.5(AKNAD1):c.1849G>T (p.Val617Leu)	AKNAD1 (V617L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255622	NM_152763.5(AKNAD1):c.1823G>T (p.Arg608Leu)	AKNAD1 (R608L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621208	NM_152763.5(AKNAD1):c.1811G>C (p.Cys604Ser)	AKNAD1 (C604S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541038	NM_152763.5(AKNAD1):c.1811G>A (p.Cys604Tyr)	AKNAD1 (C604Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107426	NM_152763.5(AKNAD1):c.1793C>T (p.Thr598Met)	AKNAD1 (T598M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107424	NM_152763.5(AKNAD1):c.1766C>T (p.Pro589Leu)	AKNAD1 (P589L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597024	NM_152763.5(AKNAD1):c.1697C>T (p.Ala566Val)	AKNAD1 (A566V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2358897	NM_152763.5(AKNAD1):c.1667A>G (p.Tyr556Cys)	AKNAD1 (Y556C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482254	NM_152763.5(AKNAD1):c.1609C>A (p.Gln537Lys)	AKNAD1 (Q537K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107419	NM_152763.5(AKNAD1):c.1562C>T (p.Pro521Leu)	AKNAD1 (P521L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107417	NM_152763.5(AKNAD1):c.1538T>C (p.Ile513Thr)	AKNAD1 (I513T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273344	NM_152763.5(AKNAD1):c.1517T>G (p.Phe506Cys)	AKNAD1 (F506C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244533	NM_152763.5(AKNAD1):c.1357G>A (p.Val453Ile)	AKNAD1 (V453I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205870	NM_152763.5(AKNAD1):c.1351A>G (p.Thr451Ala)	AKNAD1 (T451A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107412	NM_152763.5(AKNAD1):c.1325A>C (p.Gln442Pro)	AKNAD1 (Q442P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392370	NM_152763.5(AKNAD1):c.1291T>C (p.Phe431Leu)	AKNAD1 (F431L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217444	NM_152763.5(AKNAD1):c.1217C>T (p.Ser406Phe)	AKNAD1 (S406F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223359	NM_152763.5(AKNAD1):c.1183G>T (p.Val395Leu)	AKNAD1 (V395L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107404	NM_152763.5(AKNAD1):c.1158A>C (p.Glu386Asp)	AKNAD1 (E386D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217837	NM_152763.5(AKNAD1):c.1058C>T (p.Ser353Phe)	AKNAD1 (S353F)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2393064	NM_152763.5(AKNAD1):c.1006G>A (p.Val336Ile)	AKNAD1 (V336I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612843	NM_152763.5(AKNAD1):c.911A>G (p.Glu304Gly)	AKNAD1 (E304G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209814	NM_152763.5(AKNAD1):c.904A>G (p.Ser302Gly)	AKNAD1 (S302G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107508	NM_152763.5(AKNAD1):c.859A>G (p.Ser287Gly)	AKNAD1 (S287G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491865	NM_152763.5(AKNAD1):c.822G>C (p.Lys274Asn)	AKNAD1 (K274N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2323286	NM_152763.5(AKNAD1):c.704A>T (p.Lys235Ile)	AKNAD1 (K235I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282598	NM_152763.5(AKNAD1):c.619A>T (p.Ser207Cys)	AKNAD1 (S207C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225737	NM_152763.5(AKNAD1):c.566C>T (p.Thr189Met)	AKNAD1 (T189M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2311280	NM_152763.5(AKNAD1):c.532G>A (p.Gly178Ser)	AKNAD1 (G178S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243309	NM_152763.5(AKNAD1):c.528G>C (p.Arg176Ser)	AKNAD1 (R176S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457789	NM_152763.5(AKNAD1):c.494C>T (p.Thr165Ile)	AKNAD1 (T165I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509050	NM_152763.5(AKNAD1):c.437C>T (p.Ala146Val)	AKNAD1 (A146V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2297500	NM_152763.5(AKNAD1):c.398T>C (p.Leu133Pro)	AKNAD1 (L133P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400092	NM_152763.5(AKNAD1):c.364T>C (p.Phe122Leu)	AKNAD1 (F122L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107471	NM_152763.5(AKNAD1):c.349C>A (p.Leu117Ile)	AKNAD1 (L117I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107468	NM_152763.5(AKNAD1):c.335T>A (p.Ile112Asn)	AKNAD1 (I112N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214732	NM_152763.5(AKNAD1):c.307G>T (p.Asp103Tyr)	AKNAD1 (D103Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107462	NM_152763.5(AKNAD1):c.303A>C (p.Glu101Asp)	AKNAD1 (E101D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107449	NM_152763.5(AKNAD1):c.272G>A (p.Cys91Tyr)	AKNAD1 (C91Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107446	NM_152763.5(AKNAD1):c.262G>C (p.Glu88Gln)	AKNAD1 (E88Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512259	NM_152763.5(AKNAD1):c.256G>A (p.Glu86Lys)	AKNAD1 (E86K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531680	NM_152763.5(AKNAD1):c.246C>G (p.Asn82Lys)	AKNAD1 (N82K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607504	NM_152763.5(AKNAD1):c.238G>T (p.Ala80Ser)	AKNAD1 (A80S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471286	NM_152763.5(AKNAD1):c.225A>C (p.Lys75Asn)	AKNAD1 (K75N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282560	NM_152763.5(AKNAD1):c.193G>A (p.Gly65Arg)	AKNAD1 (G65R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2592451	NM_152763.5(AKNAD1):c.124G>A (p.Glu42Lys)	AKNAD1 (E42K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282588	NM_152763.5(AKNAD1):c.122T>C (p.Leu41Pro)	AKNAD1 (L41P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514090	NM_152763.5(AKNAD1):c.29C>T (p.Thr10Met)	AKNAD1 (T10M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397269	NM_152763.5(AKNAD1):c.7G>A (p.Glu3Lys)	AKNAD1 (E3K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063099	GRCh37/hg19 1p13.3(chr1:109255293-109812358)x3	AKNAD1, CELSR2 +10 more	Copy number gain	not specified	GUncertain significance
Select item 3062933	GRCh37/hg19 1p13.3(chr1:109367168-109429175)x3	AKNAD1, GPSM2	Copy number gain	not specified	GUncertain significance
Select item 2685814	GRCh37/hg19 1p13.3(chr1:109069332-109366802)x3	AKNAD1, EEIG2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2424031	NC_000001.10:g.(?_108679275)_(111674176_?)del	AHCYL1, AKNAD1 +52 more	Deletion	Hereditary spastic paraplegia 63 +1 more	GPathogenic
Select item 2423587	NC_000001.10:g.(?_108679275)_(109493059_?)del	AKNAD1, CLCC1 +9 more	Deletion	not provided	GUncertain significance
Select item 1808862	GRCh37/hg19 1p13.3(chr1:109371874-109906234)x3	AKNAD1, CELSR2 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1808806	GRCh37/hg19 1p13.3(chr1:109396971-109807574)x3	AKNAD1, CELSR2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1808322	GRCh37/hg19 1p13.3(chr1:109345620-109404928)x1	AKNAD1, STXBP3	Copy number loss	not provided	GUncertain significance
Select item 1808154	GRCh37/hg19 1p13.3(chr1:109350810-109838970)x3	AKNAD1, CELSR2 +11 more	Copy number gain	not provided	GUncertain significance
Select item 1527248	GRCh37/hg19 1p13.3(chr1:109396970-109807574)	AKNAD1, CELSR2 +8 more	Copy number gain	not specified	GUncertain significance
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1340040	GRCh37/hg19 1p13.3(chr1:108346477-110177123)x1	AKNAD1, AMIGO1 +30 more	Copy number loss	not provided	GUncertain significance
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 979271	GRCh37/hg19 1p13.3(chr1:108769288-109425488)x3	AKNAD1, EEIG2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 814117	GRCh37/hg19 1p13.3(chr1:109396970-109807574)x1	GPSM2, CFAP276 +8 more	Copy number loss	not provided	GUncertain significance
Select item 684474	Single allele	AHCYL1, AKNAD1 +47 more	Deletion	not provided	Gnot provided
Select item 635280	Single allele	KCNC4, LAMTOR5 +50 more	Deletion	1p13.3 deletion syndrome	GLikely pathogenic
Select item 443506	GRCh37/hg19 1p13.3(chr1:109343840-109868178)x3	AKNAD1, CELSR2 +12 more	Copy number gain	See cases	GUncertain significance
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 91