"Ambry Genetics"[submitter] AND "ABCA8"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3115110	NM_001288985.2(ABCA8):c.4826C>A (p.Pro1609His)	ABCA8 (P1135H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271499	NM_001288985.2(ABCA8):c.4811A>G (p.Glu1604Gly)	ABCA8 (E1564G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253573	NM_001288985.2(ABCA8):c.4807T>A (p.Phe1603Ile)	ABCA8 (F1542I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287322	NM_001288985.2(ABCA8):c.4691C>T (p.Ala1564Val)	ABCA8 (A1090V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396260	NM_001288985.2(ABCA8):c.4643T>C (p.Leu1548Pro)	ABCA8 (L1074P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287398	NM_001288985.2(ABCA8):c.4634A>C (p.Tyr1545Ser)	ABCA8 (Y1540S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306535	NM_001288985.2(ABCA8):c.4573G>A (p.Val1525Met)	ABCA8 (V1051M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344768	NM_001288985.2(ABCA8):c.4468A>T (p.Ile1490Phe)	ABCA8 (I1490F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509799	NM_001288985.2(ABCA8):c.4421C>A (p.Thr1474Asn)	ABCA8 (T1413N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114915	NM_001288985.2(ABCA8):c.4409G>C (p.Gly1470Ala)	ABCA8 (G1465A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404808	NM_001288985.2(ABCA8):c.4409G>T (p.Gly1470Val)	ABCA8 (G996V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114875	NM_001288985.2(ABCA8):c.4402G>A (p.Glu1468Lys)	ABCA8 (E1463K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553328	NM_001288985.2(ABCA8):c.4331C>T (p.Pro1444Leu)	ABCA8 (P1439L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529488	NM_001288985.2(ABCA8):c.4325A>G (p.Asp1442Gly)	ABCA8 (D1442G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454474	NM_001288985.2(ABCA8):c.4309T>A (p.Ser1437Thr)	ABCA8 (S1376T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358099	NM_001288985.2(ABCA8):c.4237T>G (p.Ser1413Ala)	ABCA8 (S1352A +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2589134	NM_001288985.2(ABCA8):c.4198C>T (p.Arg1400Trp)	ABCA8 (R1339W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306267	NM_001288985.2(ABCA8):c.4181C>T (p.Ala1394Val)	ABCA8 (A1354V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324063	NM_001288985.2(ABCA8):c.4151C>T (p.Ala1384Val)	ABCA8 (A1384V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286734	NM_001288985.2(ABCA8):c.4108C>G (p.Leu1370Val)	ABCA8 (L1370V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246572	NM_001288985.2(ABCA8):c.4064G>A (p.Gly1355Glu)	ABCA8 (G1355E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114589	NM_001288985.2(ABCA8):c.4030G>T (p.Ala1344Ser)	ABCA8 (A1304S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609421	NM_001288985.2(ABCA8):c.3974A>G (p.Asn1325Ser)	ABCA8 (N1325S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114552	NM_001288985.2(ABCA8):c.3956T>C (p.Leu1319Ser)	ABCA8 (L1319S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369184	NM_001288985.2(ABCA8):c.3884G>C (p.Gly1295Ala)	ABCA8 (G1295A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588562	NM_001288985.2(ABCA8):c.3856C>T (p.Arg1286Cys)	ABCA8 (R1246C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114467	NM_001288985.2(ABCA8):c.3760G>A (p.Glu1254Lys)	ABCA8 (E1214K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518952	NM_001288985.2(ABCA8):c.3736C>A (p.Gln1246Lys)	ABCA8 (Q1206K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114410	NM_001288985.2(ABCA8):c.3710T>C (p.Ile1237Thr)	ABCA8 (I1237T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114379	NM_001288985.2(ABCA8):c.3687G>A (p.Met1229Ile)	ABCA8 (M755I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590409	NM_001288985.2(ABCA8):c.3664T>C (p.Trp1222Arg)	ABCA8 (W1182R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279475	NM_001288985.2(ABCA8):c.3649C>T (p.Leu1217Phe)	ABCA8 (L1217F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114308	NM_001288985.2(ABCA8):c.3610C>G (p.Leu1204Val)	ABCA8 (L1164V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114288	NM_001288985.2(ABCA8):c.3581G>A (p.Arg1194Gln)	ABCA8 (R1133Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114260	NM_001288985.2(ABCA8):c.3574G>A (p.Glu1192Lys)	ABCA8 (E718K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114231	NM_001288985.2(ABCA8):c.3550C>T (p.Leu1184Phe)	ABCA8 (L1144F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287246	NM_001288985.2(ABCA8):c.3509C>A (p.Pro1170Gln)	ABCA8 (P1170Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358098	NM_001288985.2(ABCA8):c.3415T>G (p.Phe1139Val)	ABCA8 (F1139V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286914	NM_001288985.2(ABCA8):c.3377T>C (p.Ile1126Thr)	ABCA8 (I1126T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248431	NM_001288985.2(ABCA8):c.3295A>G (p.Thr1099Ala)	ABCA8 (T1038A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114165	NM_001288985.2(ABCA8):c.3268A>T (p.Ile1090Phe)	ABCA8 (I616F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602751	NM_001288985.2(ABCA8):c.3263G>C (p.Ser1088Thr)	ABCA8 (S1088T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541513	NM_001288985.2(ABCA8):c.3261G>A (p.Met1087Ile)	ABCA8 (M613I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287490	NM_001288985.2(ABCA8):c.3254A>C (p.Tyr1085Ser)	ABCA8 (Y1085S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557070	NM_001288985.2(ABCA8):c.3166C>T (p.Arg1056Trp)	ABCA8 (R1056W +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3114061	NM_001288985.2(ABCA8):c.3154C>T (p.Arg1052Trp)	ABCA8 (R1052W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329937	NM_001288985.2(ABCA8):c.3137A>T (p.Asp1046Val)	ABCA8 (D1006V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286543	NM_001288985.2(ABCA8):c.3133G>A (p.Asp1045Asn)	ABCA8 (D1005N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488818	NM_001288985.2(ABCA8):c.3098C>T (p.Ser1033Leu)	ABCA8 (S993L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234118	NM_001288985.2(ABCA8):c.3058G>A (p.Gly1020Arg)	ABCA8 (G959R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113937	NM_001288985.2(ABCA8):c.3055A>G (p.Ile1019Val)	ABCA8 (I1019V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214494	NM_001288985.2(ABCA8):c.3046G>A (p.Asp1016Asn)	ABCA8 (D1016N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619901	NM_001288985.2(ABCA8):c.2965G>A (p.Val989Ile)	ABCA8 (V515I +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2317378	NM_001288985.2(ABCA8):c.2924A>G (p.Asn975Ser)	ABCA8 (N501S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113829	NM_001288985.2(ABCA8):c.2903A>G (p.Tyr968Cys)	ABCA8 (Y928C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113777	NM_001288985.2(ABCA8):c.2890A>G (p.Asn964Asp)	ABCA8 (N490D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287111	NM_001288985.2(ABCA8):c.2875A>G (p.Ile959Val)	ABCA8 (I898V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113751	NM_001288985.2(ABCA8):c.2837C>G (p.Thr946Ser)	ABCA8 (T885S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390774	NM_001288985.2(ABCA8):c.2788C>G (p.Gln930Glu)	ABCA8 (Q869E +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2478418	NM_001288985.2(ABCA8):c.2751C>G (p.Ile917Met)	ABCA8 (I877M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285497	NM_001288985.2(ABCA8):c.2731C>T (p.Pro911Ser)	ABCA8 (P437S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286822	NM_001288985.2(ABCA8):c.2693A>C (p.His898Pro)	ABCA8 (H837P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329936	NM_001288985.2(ABCA8):c.2639A>G (p.Glu880Gly)	ABCA8 (E819G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242236	NM_001288985.2(ABCA8):c.2635G>A (p.Val879Met)	ABCA8 (V405M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605043	NM_001288985.2(ABCA8):c.2513T>G (p.Val838Gly)	ABCA8 (V838G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113543	NM_001288985.2(ABCA8):c.2487C>A (p.Asn829Lys)	ABCA8 (N789K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212046	NM_001288985.2(ABCA8):c.2451G>C (p.Arg817Ser)	ABCA8 (R343S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516231	NM_001288985.2(ABCA8):c.2440G>A (p.Asp814Asn)	ABCA8 (D340N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344547	NM_001288985.2(ABCA8):c.2227G>A (p.Glu743Lys)	ABCA8 (E743K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113464	NM_001288985.2(ABCA8):c.2075A>G (p.Lys692Arg)	ABCA8 (K652R +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2479233	NM_001288985.2(ABCA8):c.1928C>T (p.Pro643Leu)	ABCA8 (P582L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303895	NM_001288985.2(ABCA8):c.1769C>A (p.Pro590Gln)	ABCA8 (P116Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357391	NM_001288985.2(ABCA8):c.1756A>G (p.Lys586Glu)	ABCA8 (K525E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537575	NM_001288985.2(ABCA8):c.1701T>A (p.Asn567Lys)	ABCA8 (N93K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113322	NM_001288985.2(ABCA8):c.1697C>G (p.Ser566Cys)	ABCA8 (S92C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217567	NM_001288985.2(ABCA8):c.1636A>C (p.Lys546Gln)	ABCA8 (K546Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323571	NM_001288985.2(ABCA8):c.1632C>A (p.Asn544Lys)	ABCA8 (N483K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321735	NM_001288985.2(ABCA8):c.1577T>C (p.Leu526Pro)	ABCA8 (L52P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369851	NM_001288985.2(ABCA8):c.1553G>A (p.Ser518Asn)	ABCA8 (S518N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400297	NM_001288985.2(ABCA8):c.1493C>G (p.Ala498Gly)	ABCA8 (A437G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314264	NM_001288985.2(ABCA8):c.1483A>G (p.Lys495Glu)	ABCA8 (K495E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596812	NM_001288985.2(ABCA8):c.1436C>A (p.Ala479Asp)	ABCA8 (A479D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272511	NM_001288985.2(ABCA8):c.1435G>A (p.Ala479Thr)	ABCA8 (A479T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286453	NM_001288985.2(ABCA8):c.1193T>C (p.Ile398Thr)	ABCA8 (I398T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217967	NM_001288985.2(ABCA8):c.1175C>T (p.Ser392Leu)	ABCA8 (S331L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2482145	NM_001288985.2(ABCA8):c.1160C>T (p.Ala387Val)	ABCA8 (A326V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3287180	NM_001288985.2(ABCA8):c.1057C>A (p.Leu353Ile)	ABCA8 (L292I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286640	NM_001288985.2(ABCA8):c.1025G>A (p.Gly342Glu)	ABCA8 (G281E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391981	NM_001288985.2(ABCA8):c.938T>C (p.Leu313Ser)	ABCA8 (L313S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615440	NM_001288985.2(ABCA8):c.857T>A (p.Leu286His)	ABCA8 (L286H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115379	NM_001288985.2(ABCA8):c.817T>G (p.Tyr273Asp)	ABCA8 (Y273D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288433	NM_001288985.2(ABCA8):c.817T>C (p.Tyr273His)	ABCA8 (Y273H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465126	NM_001288985.2(ABCA8):c.778C>A (p.Leu260Ile)	ABCA8 (L260I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471853	NM_001288985.2(ABCA8):c.620A>G (p.Lys207Arg)	ABCA8 (K146R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309063	NM_001288985.2(ABCA8):c.548C>A (p.Ala183Asp)	ABCA8 (A122D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217628	NM_001288985.2(ABCA8):c.545C>G (p.Ala182Gly)	ABCA8 (A121G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596983	NM_001288985.2(ABCA8):c.538C>T (p.Leu180Phe)	ABCA8 (L119F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2546109	NM_001288985.2(ABCA8):c.512T>C (p.Val171Ala)	ABCA8 (V110A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590107	NM_001288985.2(ABCA8):c.482C>G (p.Thr161Arg)	ABCA8 (T100R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591234	NM_001288985.2(ABCA8):c.425G>A (p.Gly142Glu)	ABCA8 (G81E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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