18156[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	LOC129388541, LOC129388542 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +421 more	Copy number gain	See cases	GLikely pathogenic
Select item 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 59968	GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1	ACOT11, BSND +205 more	Copy number loss	See cases	GPathogenic
Select item 59969	GRCh38/hg38 1p32.3(chr1:54207426-54756958)x1	ACOT11, FAM151A +25 more	Copy number loss	See cases	GPathogenic
Select item 2396139	NM_147161.4(ACOT11):c.67C>T (p.Arg23Trp)	ACOT11 (R23W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524336	NM_147161.4(ACOT11):c.86C>T (p.Ala29Val)	ACOT11 (A29V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137348	NM_147161.4(ACOT11):c.124C>T (p.Arg42Trp)	ACOT11 (R42W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786988	NM_147161.4(ACOT11):c.159G>A (p.Val53=)	ACOT11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2541828	NM_147161.4(ACOT11):c.161T>C (p.Leu54Pro)	ACOT11 (L54P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137385	NM_147161.4(ACOT11):c.284A>G (p.Asp95Gly)	ACOT11 (D95G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474245	NM_147161.4(ACOT11):c.323T>G (p.Val108Gly)	ACOT11 (V108G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370032	NM_147161.4(ACOT11):c.491C>T (p.Thr164Met)	ACOT11 (T164M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273307	NM_147161.4(ACOT11):c.497G>A (p.Arg166Gln)	ACOT11 (R166Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206796	NM_147161.4(ACOT11):c.541C>T (p.Arg181Trp)	ACOT11 (R181W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367829	NM_147161.4(ACOT11):c.542G>A (p.Arg181Gln)	ACOT11 (R181Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137404	NM_147161.4(ACOT11):c.545G>A (p.Arg182His)	ACOT11 (R182H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137406	NM_147161.4(ACOT11):c.556G>A (p.Val186Ile)	ACOT11 (V186I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465254	NM_147161.4(ACOT11):c.560A>G (p.Tyr187Cys)	ACOT11 (Y187C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495159	NM_147161.4(ACOT11):c.591C>G (p.Asn197Lys)	ACOT11 (N197K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207968	NM_147161.4(ACOT11):c.625T>C (p.Cys209Arg)	ACOT11 (C209R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376880	NM_147161.4(ACOT11):c.631C>T (p.Arg211Cys)	ACOT11 (R211C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209835	NM_147161.4(ACOT11):c.641C>T (p.Pro214Leu)	ACOT11 (P214L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137446	NM_147161.4(ACOT11):c.644C>A (p.Ala215Asp)	ACOT11 (A215D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137459	NM_147161.4(ACOT11):c.680T>C (p.Leu227Pro)	ACOT11 (L227P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243366	NM_147161.4(ACOT11):c.718G>A (p.Gly240Ser)	ACOT11 (G240S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137464	NM_147161.4(ACOT11):c.767G>A (p.Arg256Gln)	ACOT11 (R256Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786989	NM_147161.4(ACOT11):c.884+6G>T	ACOT11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3137466	NM_147161.4(ACOT11):c.910G>A (p.Ala304Thr)	ACOT11 (A304T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137467	NM_147161.4(ACOT11):c.916C>T (p.Arg306Cys)	ACOT11 (R306C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137468	NM_147161.4(ACOT11):c.917G>A (p.Arg306His)	ACOT11 (R306H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554501	NM_147161.4(ACOT11):c.1016G>A (p.Arg339Gln)	ACOT11 (R339Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536928	NM_147161.4(ACOT11):c.1016G>C (p.Arg339Pro)	ACOT11 (R339P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455436	NM_147161.4(ACOT11):c.1039C>T (p.Arg347Trp)	ACOT11 (R347W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137338	NM_147161.4(ACOT11):c.1043G>A (p.Arg348Gln)	ACOT11 (R348Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549617	NM_147161.4(ACOT11):c.1076G>T (p.Arg359Leu)	ACOT11 (R359L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137343	NM_147161.4(ACOT11):c.1145G>C (p.Ser382Thr)	ACOT11 (S382T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137345	NM_147161.4(ACOT11):c.1150C>G (p.Gln384Glu)	ACOT11 (Q384E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479891	NM_147161.4(ACOT11):c.1164C>G (p.Ser388Arg)	ACOT11 (S388R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342636	NM_147161.4(ACOT11):c.1187A>C (p.Lys396Thr)	ACOT11 (K396T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638829	NM_147161.4(ACOT11):c.1223C>T (p.Ser408Leu)	ACOT11 (S408L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3137350	NM_147161.4(ACOT11):c.1380G>T (p.Glu460Asp)	ACOT11 (E460D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621411	NM_147161.4(ACOT11):c.1464C>G (p.Phe488Leu)	ACOT11 (F488L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137355	NM_147161.4(ACOT11):c.1465G>A (p.Val489Met)	ACOT11 (V489M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496292	NM_147161.4(ACOT11):c.1477T>A (p.Ser493Thr)	ACOT11 (S493T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719706	NM_147161.4(ACOT11):c.1518C>T (p.Ile506=)	ACOT11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3137364	NM_147161.4(ACOT11):c.1520C>T (p.Ala507Val)	ACOT11 (A507V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525587	NM_147161.4(ACOT11):c.1523T>C (p.Leu508Pro)	ACOT11 (L508P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472608	NM_147161.4(ACOT11):c.1528T>C (p.Ser510Pro)	ACOT11 (S510P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137375	NM_147161.4(ACOT11):c.1556C>T (p.Thr519Met)	ACOT11 (T519M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237183	NM_147161.4(ACOT11):c.1571G>A (p.Arg524His)	ACOT11 (R524H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369421	NM_147161.4(ACOT11):c.1585T>C (p.Cys529Arg)	ACOT11 (C529R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789922	NM_147161.4(ACOT11):c.1629+9G>A	ACOT11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2373373	NM_176782.3(FAM151A):c.1744G>A (p.Val582Ile)	ACOT11, FAM151A (V582I)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3091911	NM_176782.3(FAM151A):c.1732T>G (p.Leu578Val)	ACOT11, FAM151A (L578V)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2395857	NM_176782.3(FAM151A):c.1694G>A (p.Arg565Gln)	ACOT11, FAM151A (R565Q)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2304327	NM_176782.3(FAM151A):c.1618G>A (p.Glu540Lys)	ACOT11, FAM151A (E540K)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 719938	NM_176782.3(FAM151A):c.1600C>G (p.Arg534Gly)	ACOT11, FAM151A (R534G)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3091910	NM_176782.3(FAM151A):c.1598C>A (p.Pro533His)	ACOT11, FAM151A (P533H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2295787	NM_176782.3(FAM151A):c.1448A>G (p.Glu483Gly)	ACOT11, FAM151A (E483G)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2470518	NM_176782.3(FAM151A):c.1417C>G (p.His473Asp)	ACOT11, FAM151A (H473D)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3091909	NM_176782.3(FAM151A):c.1408G>T (p.Val470Phe)	ACOT11, FAM151A (V470F)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2522982	NM_176782.3(FAM151A):c.1342T>C (p.Ser448Pro)	ACOT11, FAM151A (S448P)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3091908	NM_176782.3(FAM151A):c.1339A>T (p.Ile447Phe)	ACOT11, FAM151A (I447F)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2407710	NM_176782.3(FAM151A):c.1337A>G (p.Lys446Arg)	ACOT11, FAM151A (K446R)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2222005	NM_176782.3(FAM151A):c.1313A>C (p.His438Pro)	ACOT11, FAM151A (H438P)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2296849	NM_176782.3(FAM151A):c.1289G>A (p.Arg430His)	ACOT11, FAM151A (R430H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2278430	NM_176782.3(FAM151A):c.1255G>A (p.Ala419Thr)	ACOT11, FAM151A (A419T)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 1291889	NM_176782.3(FAM151A):c.1247C>T (p.Ala416Val)	ACOT11, FAM151A (A416V)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 3091907	NM_176782.3(FAM151A):c.1219G>A (p.Gly407Arg)	ACOT11, FAM151A (G407R)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2342647	NM_176782.3(FAM151A):c.1181C>T (p.Thr394Met)	ACOT11, FAM151A (T394M)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2488732	NM_176782.3(FAM151A):c.1175T>A (p.Ile392Asn)	ACOT11, FAM151A (I392N)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2312886	NM_176782.3(FAM151A):c.1144G>A (p.Val382Met)	ACOT11, FAM151A (V382M)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2232615	NM_176782.3(FAM151A):c.1112C>T (p.Thr371Ile)	ACOT11, FAM151A (T371I)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3091906	NM_176782.3(FAM151A):c.1082C>T (p.Pro361Leu)	ACOT11, FAM151A (P361L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235369	NM_176782.3(FAM151A):c.1079T>A (p.Leu360His)	ACOT11, FAM151A (L360H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 773109	NM_176782.3(FAM151A):c.1003_1031del (p.Pro335fs)	ACOT11, FAM151A (P335fs)	Deletion (frameshift variant +1 more)	not provided	GBenign
Select item 782377	NM_176782.3(FAM151A):c.1014C>T (p.Asp338=)	ACOT11, FAM151A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2291730	NM_176782.3(FAM151A):c.986T>C (p.Ile329Thr)	ACOT11, FAM151A (I329T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296251	NM_176782.3(FAM151A):c.962T>A (p.Met321Lys)	ACOT11, FAM151A (M321K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091919	NM_176782.3(FAM151A):c.952C>T (p.Arg318Trp)	ACOT11, FAM151A (R318W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1254334	NM_176782.3(FAM151A):c.941-202T>C	FAM151A, ACOT11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2554602	NM_176782.3(FAM151A):c.932A>G (p.Gln311Arg)	ACOT11, FAM151A (Q311R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091918	NM_176782.3(FAM151A):c.832G>C (p.Asp278His)	ACOT11, FAM151A (D278H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 767671	NM_176782.3(FAM151A):c.818G>A (p.Trp273Ter)	ACOT11, FAM151A (W273*)	Single nucleotide variant (nonsense +1 more)	not provided	GBenign
Select item 2358740	NM_176782.3(FAM151A):c.749T>C (p.Met250Thr)	ACOT11, FAM151A (M250T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091917	NM_176782.3(FAM151A):c.704T>C (p.Val235Ala)	ACOT11, FAM151A (V235A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786990	NM_176782.3(FAM151A):c.649A>C (p.Thr217Pro)	ACOT11, FAM151A (T217P)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 720896	NM_176782.3(FAM151A):c.573dup (p.Gln192fs)	ACOT11, FAM151A (Q192fs)	Duplication (frameshift variant +1 more)	not provided	GLikely benign
Select item 3091916	NM_176782.3(FAM151A):c.544A>C (p.Met182Leu)	ACOT11, FAM151A (M182L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091914	NM_176782.3(FAM151A):c.542A>G (p.Asn181Ser)	ACOT11, FAM151A (N181S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513077	NM_176782.3(FAM151A):c.503G>A (p.Arg168Gln)	ACOT11, FAM151A (R168Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340484	NM_176782.3(FAM151A):c.485A>G (p.Glu162Gly)	ACOT11, FAM151A (E162G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492877	NM_176782.3(FAM151A):c.448G>C (p.Val150Leu)	ACOT11, FAM151A (V150L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479426	NM_176782.3(FAM151A):c.374T>G (p.Leu125Arg)	ACOT11, FAM151A (L125R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 728791	NM_176782.3(FAM151A):c.351dup (p.Thr118fs)	ACOT11, FAM151A (T118fs)	Duplication (frameshift variant +1 more)	not provided	GLikely benign
Select item 2246482	NM_176782.3(FAM151A):c.350C>A (p.Pro117His)	ACOT11, FAM151A (P117H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254335	NM_176782.3(FAM151A):c.335T>A (p.Ile112Asn)	ACOT11, FAM151A (I112N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247908	NM_176782.3(FAM151A):c.329T>G (p.Val110Gly)	ACOT11, FAM151A (V110G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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