ACIN1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 3136647	NM_001386863.1(ACIN1):c.3788C>T (p.Thr1263Ile)	ACIN1 (T1263I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255317	NM_001386863.1(ACIN1):c.3709A>G (p.Arg1237Gly)	ACIN1 (R537G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375018	NM_001386863.1(ACIN1):c.3389G>T (p.Arg1130Leu)	ACIN1 (R1130L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261651	NM_001386863.1(ACIN1):c.3374G>A (p.Arg1125His)	ACIN1 (R1125H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547793	NM_001386863.1(ACIN1):c.3356G>A (p.Arg1119Gln)	ACIN1 (R1119Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242034	NM_001386863.1(ACIN1):c.3338G>A (p.Arg1113Gln)	ACIN1 (R1113Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136630	NM_001386863.1(ACIN1):c.3325C>T (p.Arg1109Trp)	ACIN1 (R1167W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136626	NM_001386863.1(ACIN1):c.3265G>A (p.Ala1089Thr)	ACIN1 (A1089T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261716	NM_001386863.1(ACIN1):c.3221G>A (p.Arg1074Gln)	ACIN1 (R1092Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527658	NM_001386863.1(ACIN1):c.3220C>T (p.Arg1074Trp)	ACIN1 (R1119W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513035	NM_001386863.1(ACIN1):c.3156G>T (p.Glu1052Asp)	ACIN1 (E1052D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600567	NM_001386863.1(ACIN1):c.3116G>A (p.Gly1039Asp)	ACIN1 (G1084D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458967	NM_001386863.1(ACIN1):c.3037G>A (p.Gly1013Arg)	ACIN1, LOC126861893 (G1013R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344887	NM_001386863.1(ACIN1):c.2990C>T (p.Thr997Met)	ACIN1, LOC126861893 (T1055M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290681	NM_001386863.1(ACIN1):c.2941G>A (p.Val981Met)	ACIN1, LOC126861893 (V981M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136609	NM_001386863.1(ACIN1):c.2923G>A (p.Gly975Arg)	ACIN1, LOC126861893 (G275R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623568	NM_001386863.1(ACIN1):c.2788G>A (p.Gly930Arg)	ACIN1 (G261R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250123	NM_001386863.1(ACIN1):c.2759C>T (p.Thr920Ile)	ACIN1 (T938I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554147	NM_001386863.1(ACIN1):c.2512C>T (p.Arg838Cys)	ACIN1 (R169C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136597	NM_001386863.1(ACIN1):c.2471C>T (p.Ala824Val)	ACIN1 (A124V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520140	NM_001386863.1(ACIN1):c.2302G>A (p.Val768Ile)	ACIN1 (V786I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226874	NM_001386863.1(ACIN1):c.2270C>T (p.Ser757Leu)	ACIN1 (S88L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545773	NM_001386863.1(ACIN1):c.2267G>A (p.Ser756Asn)	ACIN1 (S56N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210445	NM_001386863.1(ACIN1):c.2228G>A (p.Arg743His)	ACIN1 (R43H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373871	NM_001386863.1(ACIN1):c.2227C>T (p.Arg743Cys)	ACIN1 (R43C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136579	NM_001386863.1(ACIN1):c.2200A>G (p.Ile734Val)	ACIN1 (I734V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594590	NM_001386863.1(ACIN1):c.2162A>G (p.Asn721Ser)	ACIN1 (N739S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298825	NM_001386863.1(ACIN1):c.2152A>G (p.Thr718Ala)	ACIN1 (T18A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522213	NM_001386863.1(ACIN1):c.2084C>A (p.Thr695Asn)	ACIN1 (T753N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136573	NM_001386863.1(ACIN1):c.2017A>C (p.Lys673Gln)	ACIN1 (K691Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263417	NM_001386863.1(ACIN1):c.1949G>A (p.Arg650His)	ACIN1, LOC126861894 (R708H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261725	NM_001386863.1(ACIN1):c.1924T>C (p.Ser642Pro)	ACIN1, LOC126861894 (S700P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533441	NM_001386863.1(ACIN1):c.1879G>C (p.Val627Leu)	ACIN1, LOC126861894 (V627L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376603	NM_001386863.1(ACIN1):c.1874C>T (p.Pro625Leu)	ACIN1, LOC126861894 (P643L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2502179	NM_001386863.1(ACIN1):c.1831A>G (p.Thr611Ala)	LOC126861894, ACIN1 (T611A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2358361	NM_001386863.1(ACIN1):c.1817G>C (p.Ser606Thr)	ACIN1, LOC126861894 (S606T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329845	NM_001386863.1(ACIN1):c.1763G>A (p.Arg588His)	ACIN1, LOC126861894 (R588H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486673	NM_001386863.1(ACIN1):c.1740A>T (p.Arg580Ser)	ACIN1 (R598S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302714	NM_001386863.1(ACIN1):c.1670C>T (p.Ala557Val)	ACIN1 (A557V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531804	NM_001386863.1(ACIN1):c.1630C>T (p.Arg544Trp)	ACIN1 (R562W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570414	NM_001386863.1(ACIN1):c.1606C>T (p.Arg536Cys)	ACIN1 (R554C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261747	NM_001386863.1(ACIN1):c.1592C>G (p.Ser531Cys)	ACIN1 (S531C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136550	NM_001386863.1(ACIN1):c.1533A>T (p.Arg511Ser)	ACIN1 (R529S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372651	NM_001386863.1(ACIN1):c.1522C>T (p.Pro508Ser)	ACIN1 (P566S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352147	NM_001386863.1(ACIN1):c.1505C>T (p.Ala502Val)	ACIN1 (A520V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609137	NM_001386863.1(ACIN1):c.1499G>A (p.Arg500Lys)	ACIN1 (R500K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136530	NM_001386863.1(ACIN1):c.1450A>G (p.Ile484Val)	ACIN1 (I502V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514335	NM_001386863.1(ACIN1):c.1430A>G (p.Glu477Gly)	ACIN1 (E535G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261665	NM_001386863.1(ACIN1):c.1387G>C (p.Glu463Gln)	ACIN1 (E481Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400264	NM_001386863.1(ACIN1):c.1379T>A (p.Leu460His)	ACIN1 (L460H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213132	NM_001386863.1(ACIN1):c.1333C>G (p.Leu445Val)	ACIN1 (L503V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261673	NM_001386863.1(ACIN1):c.1291G>C (p.Glu431Gln)	ACIN1 (E431Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489771	NM_001386863.1(ACIN1):c.1198G>A (p.Asp400Asn)	ACIN1 (D458N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261705	NM_001386863.1(ACIN1):c.1150G>A (p.Glu384Lys)	ACIN1 (E384K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588762	NM_001386863.1(ACIN1):c.1139T>G (p.Ile380Arg)	ACIN1 (I438R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261757	NM_001386863.1(ACIN1):c.1129G>A (p.Glu377Lys)	ACIN1 (E377K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136511	NM_001386863.1(ACIN1):c.1100C>T (p.Ser367Phe)	ACIN1 (S367F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136509	NM_001386863.1(ACIN1):c.1069C>T (p.Pro357Ser)	ACIN1 (P357S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306728	NM_001386863.1(ACIN1):c.1028T>C (p.Leu343Pro)	ACIN1 (L361P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269338	NM_001386863.1(ACIN1):c.1013G>A (p.Arg338Gln)	ACIN1 (R356Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286091	NM_001386863.1(ACIN1):c.938A>G (p.Glu313Gly)	ACIN1 (E313G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136496	NM_001386863.1(ACIN1):c.874A>T (p.Ser292Cys)	ACIN1 (S350C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464568	NM_001386863.1(ACIN1):c.850A>G (p.Arg284Gly)	ACIN1 (R284G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644086	NM_001386863.1(ACIN1):c.825G>A (p.Val275=)	ACIN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2369263	NM_001386863.1(ACIN1):c.797C>T (p.Pro266Leu)	ACIN1 (P266L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261776	NM_001386863.1(ACIN1):c.755A>C (p.Glu252Ala)	ACIN1 (E270A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261658	NM_001386863.1(ACIN1):c.747A>T (p.Glu249Asp)	ACIN1 (E307D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588956	NM_001386863.1(ACIN1):c.746A>T (p.Glu249Val)	ACIN1 (E249V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287258	NM_001386863.1(ACIN1):c.741G>C (p.Lys247Asn)	ACIN1 (K265N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261777	NM_001386863.1(ACIN1):c.666A>C (p.Glu222Asp)	ACIN1 (E240D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136671	NM_001386863.1(ACIN1):c.619C>G (p.Arg207Gly)	ACIN1 (R265G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261767	NM_001386863.1(ACIN1):c.580C>G (p.Gln194Glu)	ACIN1 (Q212E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136662	NM_001386863.1(ACIN1):c.491G>C (p.Arg164Thr)	ACIN1 (R164T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284088	NM_001386863.1(ACIN1):c.491G>A (p.Arg164Lys)	ACIN1 (R222K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515096	NM_001386863.1(ACIN1):c.431C>G (p.Ser144Trp)	ACIN1 (S202W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213991	NM_001386863.1(ACIN1):c.404G>A (p.Arg135Lys)	ACIN1 (R135K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495759	NM_001386863.1(ACIN1):c.371T>G (p.Leu124Arg)	ACIN1 (L124R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516154	NM_001386863.1(ACIN1):c.362T>A (p.Val121Glu)	ACIN1 (V121E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320459	NM_001386863.1(ACIN1):c.332C>T (p.Ser111Leu)	ACIN1 (S111L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3235782	NM_001386863.1(ACIN1):c.277C>T (p.Arg93Cys)	ACIN1 (R151C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2338257	NM_001386863.1(ACIN1):c.9G>C (p.Glu3Asp)	ACIN1 (E61D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261694	NM_001386863.1(ACIN1):c.-18C>T	ACIN1 (P53S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549840	NM_014977.4(ACIN1):c.68T>C (p.Val23Ala)	ACIN1 (V23A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644087	NM_014977.4(ACIN1):c.66G>A (p.Gly22=)	ACIN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3261736	NM_014977.4(ACIN1):c.41G>A (p.Arg14Gln)	ACIN1 (R14Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136545	NM_014977.4(ACIN1):c.16C>G (p.His6Asp)	ACIN1 (H6D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613511	NM_014977.4(ACIN1):c.8G>T (p.Arg3Ile)	ACIN1 (R3I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603053	NM_014977.4(ACIN1):c.4T>G (p.Trp2Gly)	ACIN1 (W2G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2423736	NC_000014.8:g.(?_23242819)_(25103366_?)dup	MRPL52, MYH6 +77 more	Duplication	Lysinuric protein intolerance +1 more	GUncertain significance
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic

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