ABCA13[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 148053	GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1	LOC121175342, LOC121740678 +380 more	Copy number loss	See cases	GPathogenic
Select item 147754	GRCh38/hg38 7p14.1-12.1(chr7:40020598-50543500)x1	ABCA13, ADCY1 +317 more	Copy number loss	See cases	GPathogenic
Select item 146855	GRCh38/hg38 7p14.1-11.2(chr7:40534157-56107122)x1	ABCA13, ADCY1 +426 more	Copy number loss	See cases	GPathogenic
Select item 145645	GRCh38/hg38 7p13-12.1(chr7:44571949-53699760)x1	ABCA13, ADCY1 +200 more	Copy number loss	See cases	GPathogenic
Select item 2458275	NM_152701.5(ABCA13):c.10G>A (p.Ala4Thr)	ABCA13 (A4T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2477845	NM_152701.5(ABCA13):c.68C>T (p.Pro23Leu)	ABCA13 (P23L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541611	NM_152701.5(ABCA13):c.71T>A (p.Val24Asp)	ABCA13 (V24D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724010	NM_152701.5(ABCA13):c.94T>C (p.Trp32Arg)	ABCA13 (W32R)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2380250	NM_152701.5(ABCA13):c.131G>A (p.Arg44His)	ABCA13 (R44H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324104	NM_152701.5(ABCA13):c.243G>T (p.Arg81Ser)	ABCA13 (R81S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089261	NM_152701.5(ABCA13):c.257G>T (p.Ser86Ile)	ABCA13 (S86I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2635850	NM_152701.5(ABCA13):c.287+5G>A	ABCA13	Single nucleotide variant (intron variant)	ABCA13-related disorder	GUncertain significance
Select item 148335	GRCh38/hg38 7p12.3(chr7:48198636-48524392)x1	ABCA13, LOC126860027 +2 more	Copy number loss	See cases	GUncertain significance
Select item 3276587	NM_152701.5(ABCA13):c.374T>C (p.Ile125Thr)	ABCA13 (I125T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543602	NM_152701.5(ABCA13):c.394G>A (p.Ala132Thr)	ABCA13 (A132T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090168	NM_152701.5(ABCA13):c.425G>A (p.Arg142Gln)	ABCA13 (R142Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040350	NM_152701.5(ABCA13):c.479A>G (p.Asn160Ser)	ABCA13 (N160S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322116	NM_152701.5(ABCA13):c.483G>T (p.Lys161Asn)	ABCA13 (K161N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236525	NM_152701.5(ABCA13):c.493G>A (p.Val165Ile)	ABCA13 (V165I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2690794	NM_152701.5(ABCA13):c.557C>T (p.Pro186Leu)	ABCA13 (P186L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2345029	NM_152701.5(ABCA13):c.586G>A (p.Glu196Lys)	ABCA13 (E196K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091319	NM_152701.5(ABCA13):c.604G>T (p.Ala202Ser)	ABCA13 (A202S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277048	NM_152701.5(ABCA13):c.746A>C (p.His249Pro)	ABCA13 (H249P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273878	NM_152701.5(ABCA13):c.803A>G (p.Asp268Gly)	ABCA13 (D268G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092903	NM_152701.5(ABCA13):c.811A>G (p.Lys271Glu)	ABCA13 (K271E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093018	NM_152701.5(ABCA13):c.830A>G (p.Lys277Arg)	ABCA13 (K277R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233639	NM_152701.5(ABCA13):c.883G>A (p.Ala295Thr)	ABCA13 (A295T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067184	NM_152701.5(ABCA13):c.927G>T (p.Met309Ile)	ABCA13 (M309I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2614440	NM_152701.5(ABCA13):c.957G>T (p.Glu319Asp)	ABCA13 (E319D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273756	NM_152701.5(ABCA13):c.976G>A (p.Gly326Ser)	ABCA13 (G326S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093754	NM_152701.5(ABCA13):c.979C>T (p.His327Tyr)	ABCA13 (H327Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3274116	NM_152701.5(ABCA13):c.982G>A (p.Val328Ile)	ABCA13 (V328I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264141	NM_152701.5(ABCA13):c.985G>A (p.Gly329Arg)	ABCA13 (G329R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247883	NM_152701.5(ABCA13):c.1044G>C (p.Trp348Cys)	ABCA13 (W348C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360609	NM_152701.5(ABCA13):c.1063G>T (p.Val355Leu)	ABCA13 (V355L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543189	NM_152701.5(ABCA13):c.1075T>A (p.Trp359Arg)	ABCA13 (W359R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085905	NM_152701.5(ABCA13):c.1088G>A (p.Ser363Asn)	ABCA13 (S363N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411019	NM_152701.5(ABCA13):c.1108A>G (p.Thr370Ala)	ABCA13 (T370A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3047587	NM_152701.5(ABCA13):c.1150G>A (p.Glu384Lys)	ABCA13 (E384K)	Single nucleotide variant (missense variant)	ABCA13-related disorder	GLikely benign
Select item 710935	NM_152701.5(ABCA13):c.1262+7C>T	ABCA13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 774080	NM_152701.5(ABCA13):c.1263-5C>G	ABCA13	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 782265	NM_152701.5(ABCA13):c.1274T>A (p.Leu425Gln)	ABCA13 (L425Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 218848	NM_152701.5(ABCA13):c.1302C>A (p.Asn434Lys)	ABCA13 (N434K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3275012	NM_152701.5(ABCA13):c.1316C>T (p.Pro439Leu)	ABCA13 (P439L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2494743	NM_152701.5(ABCA13):c.1344T>G (p.Asp448Glu)	ABCA13 (D448E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787050	NM_152701.5(ABCA13):c.1344T>C (p.Asp448=)	ABCA13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2479452	NM_152701.5(ABCA13):c.1365A>G (p.Ile455Met)	ABCA13 (I455M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088010	NM_152701.5(ABCA13):c.1388A>G (p.Gln463Arg)	ABCA13 (Q463R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2690793	NM_152701.5(ABCA13):c.1430A>C (p.Lys477Thr)	ABCA13, LOC126860027 (K477T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3088301	NM_152701.5(ABCA13):c.1435T>C (p.Phe479Leu)	ABCA13, LOC126860027 (F479L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657466	NM_152701.5(ABCA13):c.1450T>C (p.Leu484=)	ABCA13, LOC126860027	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657467	NM_152701.5(ABCA13):c.1499C>T (p.Ala500Val)	ABCA13, LOC126860027 (A500V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3088618	NM_152701.5(ABCA13):c.1592T>G (p.Leu531Arg)	ABCA13, LOC126860027 (L531R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286211	NM_152701.5(ABCA13):c.1621A>C (p.Ser541Arg)	ABCA13, LOC126860027 (S541R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393547	NM_152701.5(ABCA13):c.1636C>A (p.Leu546Ile)	ABCA13 (L546I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657468	NM_152701.5(ABCA13):c.1638A>G (p.Leu546=)	ABCA13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3088709	NM_152701.5(ABCA13):c.1655A>G (p.Asp552Gly)	ABCA13 (D552G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088746	NM_152701.5(ABCA13):c.1738G>C (p.Glu580Gln)	ABCA13 (E580Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556994	NM_152701.5(ABCA13):c.1772C>A (p.Ser591Tyr)	ABCA13 (S591Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362668	NM_152701.5(ABCA13):c.1780C>T (p.Arg594Trp)	ABCA13 (R594W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476603	NM_152701.5(ABCA13):c.1877C>T (p.Thr626Ile)	ABCA13 (T626I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2354193	NM_152701.5(ABCA13):c.1977G>T (p.Met659Ile)	ABCA13 (M659I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263003	NM_152701.5(ABCA13):c.2006C>T (p.Ala669Val)	ABCA13 (A669V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393740	NM_152701.5(ABCA13):c.2017G>A (p.Glu673Lys)	ABCA13 (E673K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305740	NM_152701.5(ABCA13):c.2139G>T (p.Lys713Asn)	ABCA13 (K713N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088976	NM_152701.5(ABCA13):c.2183A>T (p.Glu728Val)	ABCA13 (E728V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388731	NM_152701.5(ABCA13):c.2185C>G (p.Gln729Glu)	ABCA13 (Q729E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2673105	NM_152701.5(ABCA13):c.2218T>C (p.Phe740Leu)	ABCA13 (F740L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 773737	NM_152701.5(ABCA13):c.2222A>C (p.Glu741Ala)	ABCA13 (E741A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2375952	NM_152701.5(ABCA13):c.2309T>C (p.Ile770Thr)	ABCA13 (I770T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2385096	NM_152701.5(ABCA13):c.2335A>C (p.Lys779Gln)	ABCA13 (K779Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657469	NM_152701.5(ABCA13):c.2361C>T (p.Ala787=)	ABCA13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3045142	NM_152701.5(ABCA13):c.2378T>G (p.Leu793Arg)	ABCA13 (L793R)	Single nucleotide variant (missense variant)	ABCA13-related disorder	GLikely benign
Select item 3089095	NM_152701.5(ABCA13):c.2407A>C (p.Lys803Gln)	ABCA13 (K803Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274829	NM_152701.5(ABCA13):c.2447C>G (p.Pro816Arg)	ABCA13 (P816R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024201	NM_152701.5(ABCA13):c.2510del (p.Leu837fs)	ABCA13 (L837fs)	Deletion (frameshift variant)	Intellectual disability without epilepsy	GLikely pathogenic
Select item 2479414	NM_152701.5(ABCA13):c.2539A>G (p.Arg847Gly)	ABCA13 (R847G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274588	NM_152701.5(ABCA13):c.2605A>G (p.Thr869Ala)	ABCA13 (T869A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 390058	NM_152701.5(ABCA13):c.2648A>T (p.Lys883Ile)	ABCA13 (K883I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2516082	NM_152701.5(ABCA13):c.2701A>G (p.Ser901Gly)	ABCA13 (S901G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089339	NM_152701.5(ABCA13):c.2728C>G (p.Gln910Glu)	ABCA13 (Q910E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3089366	NM_152701.5(ABCA13):c.2739C>G (p.Ile913Met)	ABCA13 (I913M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780678	NM_152701.5(ABCA13):c.2764G>A (p.Ala922Thr)	ABCA13 (A922T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2548953	NM_152701.5(ABCA13):c.2810A>C (p.Gln937Pro)	ABCA13 (Q937P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220402	NM_152701.5(ABCA13):c.2909G>A (p.Arg970Gln)	ABCA13 (R970Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 710936	NM_152701.5(ABCA13):c.2937G>C (p.Gln979His)	ABCA13 (Q979H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2657470	NM_152701.5(ABCA13):c.2952G>A (p.Ser984=)	ABCA13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2409337	NM_152701.5(ABCA13):c.2982C>A (p.His994Gln)	ABCA13 (H994Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089477	NM_152701.5(ABCA13):c.2997A>G (p.Ile999Met)	ABCA13 (I999M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374356	NM_152701.5(ABCA13):c.2999A>T (p.Lys1000Ile)	ABCA13 (K1000I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089513	NM_152701.5(ABCA13):c.3034G>A (p.Ala1012Thr)	ABCA13 (A1012T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379728	NM_152701.5(ABCA13):c.3035C>A (p.Ala1012Glu)	ABCA13 (A1012E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089590	NM_152701.5(ABCA13):c.3077A>G (p.Asn1026Ser)	ABCA13 (N1026S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089613	NM_152701.5(ABCA13):c.3091C>G (p.Gln1031Glu)	ABCA13 (Q1031E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608168	NM_152701.5(ABCA13):c.3137C>T (p.Ser1046Phe)	ABCA13 (S1046F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276127	NM_152701.5(ABCA13):c.3188C>T (p.Thr1063Ile)	ABCA13 (T1063I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276686	NM_152701.5(ABCA13):c.3247A>G (p.Met1083Val)	ABCA13 (M1083V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3089666	NM_152701.5(ABCA13):c.3328G>A (p.Val1110Ile)	ABCA13 (V1110I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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