16856[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 148968	GRCh38/hg38 12q13.13(chr12:52851850-53558824)x3	AAAS, AMHR2 +85 more	Copy number gain	See cases	GLikely pathogenic
Select item 59017	GRCh38/hg38 12q13.13(chr12:53099658-53724525)x1	AAAS, AMHR2 +74 more	Copy number loss	See cases	GPathogenic
Select item 59018	GRCh38/hg38 12q13.13(chr12:53224024-54222450)x1	AAAS, AMHR2 +114 more	Copy number loss	See cases	GPathogenic
Select item 3035030	NM_012291.5(ESPL1):c.27T>C (p.Phe9=)	ESPL1	Single nucleotide variant (synonymous variant)	ESPL1-related disorder	GLikely benign
Select item 3058575	NM_012291.5(ESPL1):c.117C>T (p.Ser39=)	ESPL1	Single nucleotide variant (synonymous variant)	ESPL1-related disorder	GLikely benign
Select item 3090454	NM_012291.5(ESPL1):c.175C>G (p.Gln59Glu)	ESPL1 (Q59E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090456	NM_012291.5(ESPL1):c.197C>T (p.Ala66Val)	ESPL1 (A66V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568479	NM_012291.5(ESPL1):c.228G>C (p.Glu76Asp)	ESPL1 (E76D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404582	NM_012291.5(ESPL1):c.238C>G (p.Leu80Val)	ESPL1 (L80V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056449	NM_012291.5(ESPL1):c.347C>T (p.Ala116Val)	ESPL1 (A116V)	Single nucleotide variant (missense variant)	ESPL1-related disorder	GBenign
Select item 2617064	NM_012291.5(ESPL1):c.385G>A (p.Val129Met)	ESPL1 (V129M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476140	NM_012291.5(ESPL1):c.401A>G (p.Glu134Gly)	ESPL1 (E134G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208780	NM_012291.5(ESPL1):c.434G>A (p.Arg145Gln)	ESPL1 (R145Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299744	NM_012291.5(ESPL1):c.670C>T (p.Leu224Phe)	ESPL1 (L224F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533625	NM_012291.5(ESPL1):c.710G>A (p.Gly237Glu)	ESPL1 (G237E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2369026	NM_012291.5(ESPL1):c.725T>G (p.Leu242Arg)	ESPL1 (L242R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090477	NM_012291.5(ESPL1):c.733C>T (p.Pro245Ser)	ESPL1 (P245S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457281	NM_012291.5(ESPL1):c.734C>A (p.Pro245His)	ESPL1 (P245H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564444	NM_012291.5(ESPL1):c.796C>T (p.Arg266Cys)	ESPL1 (R266C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2510222	NM_012291.5(ESPL1):c.802C>A (p.His268Asn)	ESPL1 (H268N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316325	NM_012291.5(ESPL1):c.985C>G (p.Pro329Ala)	ESPL1 (P329A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090478	NM_012291.5(ESPL1):c.995C>T (p.Pro332Leu)	ESPL1 (P332L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461728	NM_012291.5(ESPL1):c.1013A>C (p.Glu338Ala)	ESPL1 (E338A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489628	NM_012291.5(ESPL1):c.1049G>A (p.Gly350Asp)	ESPL1 (G350D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319577	NM_012291.5(ESPL1):c.1070T>C (p.Leu357Pro)	ESPL1 (L357P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3090453	NM_012291.5(ESPL1):c.1291A>C (p.Lys431Gln)	ESPL1 (K431Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040825	NM_012291.5(ESPL1):c.1299C>T (p.Thr433=)	ESPL1	Single nucleotide variant (synonymous variant)	ESPL1-related disorder	GLikely benign
Select item 2389060	NM_012291.5(ESPL1):c.1327G>T (p.Gly443Cys)	ESPL1 (G443C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218070	NM_012291.5(ESPL1):c.1423G>C (p.Glu475Gln)	ESPL1 (E475Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519850	NM_012291.5(ESPL1):c.1425G>C (p.Glu475Asp)	ESPL1 (E475D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302557	NM_012291.5(ESPL1):c.1550T>A (p.Leu517Gln)	ESPL1 (L517Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276459	NM_012291.5(ESPL1):c.1574A>G (p.Lys525Arg)	ESPL1 (K525R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276452	NM_012291.5(ESPL1):c.1676C>T (p.Ala559Val)	ESPL1 (A559V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307848	NM_012291.5(ESPL1):c.1724G>T (p.Gly575Val)	ESPL1 (G575V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284407	NM_012291.5(ESPL1):c.1748T>A (p.Leu583His)	ESPL1 (L583H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732991	NM_012291.5(ESPL1):c.1787G>A (p.Arg596Gln)	ESPL1 (R596Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3090455	NM_012291.5(ESPL1):c.1814A>G (p.Asn605Ser)	ESPL1 (N605S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240200	NM_012291.5(ESPL1):c.1846G>A (p.Glu616Lys)	ESPL1 (E616K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611861	NM_012291.5(ESPL1):c.1851G>C (p.Glu617Asp)	ESPL1 (E617D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292751	NM_012291.5(ESPL1):c.1904T>C (p.Val635Ala)	ESPL1 (V635A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296573	NM_012291.5(ESPL1):c.2108C>G (p.Ala703Gly)	ESPL1 (A703G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564757	NM_012291.5(ESPL1):c.2170C>G (p.Gln724Glu)	ESPL1 (Q724E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276572	NM_012291.5(ESPL1):c.2591G>A (p.Arg864Gln)	ESPL1 (R864Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778641	NM_012291.5(ESPL1):c.2753A>G (p.Asn918Ser)	ESPL1 (N918S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3276460	NM_012291.5(ESPL1):c.2867G>A (p.Ser956Asn)	ESPL1 (S956N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781074	NM_012291.5(ESPL1):c.2907G>A (p.Ser969=)	ESPL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3090457	NM_012291.5(ESPL1):c.3121C>G (p.Arg1041Gly)	ESPL1 (R1041G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511783	NM_012291.5(ESPL1):c.3122G>T (p.Arg1041Leu)	ESPL1 (R1041L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459724	NM_012291.5(ESPL1):c.3178T>C (p.Ser1060Pro)	ESPL1 (S1060P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034902	NM_012291.5(ESPL1):c.3232C>A (p.His1078Asn)	ESPL1 (H1078N)	Single nucleotide variant (missense variant)	ESPL1-related disorder	GBenign
Select item 3045847	NM_012291.5(ESPL1):c.3264C>T (p.Val1088=)	ESPL1	Single nucleotide variant (synonymous variant)	ESPL1-related disorder	GLikely benign
Select item 3090458	NM_012291.5(ESPL1):c.3289G>A (p.Glu1097Lys)	ESPL1 (E1097K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090459	NM_012291.5(ESPL1):c.3316C>G (p.Leu1106Val)	ESPL1 (L1106V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090460	NM_012291.5(ESPL1):c.3328G>T (p.Ala1110Ser)	ESPL1 (A1110S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557528	NM_012291.5(ESPL1):c.3345G>C (p.Glu1115Asp)	ESPL1 (E1115D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486688	NM_012291.5(ESPL1):c.3390A>C (p.Lys1130Asn)	ESPL1 (K1130N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049780	NM_012291.5(ESPL1):c.3450C>T (p.Leu1150=)	ESPL1	Single nucleotide variant (synonymous variant)	ESPL1-related disorder	GLikely benign
Select item 3276453	NM_012291.5(ESPL1):c.3454G>A (p.Ala1152Thr)	ESPL1 (A1152T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601965	NM_012291.5(ESPL1):c.3470C>G (p.Thr1157Arg)	ESPL1 (T1157R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208453	NM_012291.5(ESPL1):c.3532G>C (p.Ala1178Pro)	ESPL1 (A1178P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541970	NM_012291.5(ESPL1):c.3535C>G (p.Gln1179Glu)	ESPL1 (Q1179E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090461	NM_012291.5(ESPL1):c.3559G>A (p.Val1187Met)	ESPL1 (V1187M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090462	NM_012291.5(ESPL1):c.3631C>A (p.Pro1211Thr)	ESPL1 (P1211T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2632231	NM_012291.5(ESPL1):c.3716C>A (p.Ser1239Ter)	ESPL1 (S1239*)	Single nucleotide variant (nonsense)	ESPL1-related disorder	GUncertain significance
Select item 2643045	NM_012291.5(ESPL1):c.3739C>T (p.Leu1247=)	ESPL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2550533	NM_012291.5(ESPL1):c.3769C>G (p.Arg1257Gly)	ESPL1 (R1257G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615453	NM_012291.5(ESPL1):c.3774A>G (p.Ile1258Met)	ESPL1 (I1258M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053220	NM_012291.5(ESPL1):c.3894A>G (p.Leu1298=)	ESPL1	Single nucleotide variant (synonymous variant)	ESPL1-related disorder	GLikely benign
Select item 3276456	NM_012291.5(ESPL1):c.3925A>G (p.Lys1309Glu)	ESPL1 (K1309E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038521	NM_012291.5(ESPL1):c.3953G>A (p.Arg1318Gln)	ESPL1 (R1318Q)	Single nucleotide variant (missense variant)	ESPL1-related disorder	GLikely benign
Select item 2457490	NM_012291.5(ESPL1):c.4009G>C (p.Gly1337Arg)	ESPL1 (G1337R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713762	NM_012291.5(ESPL1):c.4010G>T (p.Gly1337Val)	ESPL1 (G1337V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3276457	NM_012291.5(ESPL1):c.4045C>T (p.Pro1349Ser)	ESPL1 (P1349S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043916	NM_012291.5(ESPL1):c.4053C>T (p.Asp1351=)	ESPL1	Single nucleotide variant (synonymous variant)	ESPL1-related disorder	GLikely benign
Select item 3090463	NM_012291.5(ESPL1):c.4054C>T (p.Arg1352Trp)	ESPL1 (R1352W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225732	NM_012291.5(ESPL1):c.4055G>A (p.Arg1352Gln)	ESPL1 (R1352Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620452	NM_012291.5(ESPL1):c.4109C>G (p.Pro1370Arg)	ESPL1 (P1370R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461254	NM_012291.5(ESPL1):c.4147G>T (p.Val1383Leu)	ESPL1 (V1383L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219480	NM_012291.5(ESPL1):c.4307C>T (p.Thr1436Met)	ESPL1 (T1436M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048978	NM_012291.5(ESPL1):c.4314C>T (p.Ala1438=)	ESPL1	Single nucleotide variant (synonymous variant)	ESPL1-related disorder	GLikely benign
Select item 782559	NM_012291.5(ESPL1):c.4384G>A (p.Ala1462Thr)	ESPL1 (A1462T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3090465	NM_012291.5(ESPL1):c.4398T>G (p.Cys1466Trp)	ESPL1 (C1466W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397139	NM_012291.5(ESPL1):c.4408C>T (p.Arg1470Cys)	ESPL1 (R1470C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226192	NM_012291.5(ESPL1):c.4409G>A (p.Arg1470His)	ESPL1 (R1470H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090466	NM_012291.5(ESPL1):c.4424G>A (p.Ser1475Asn)	ESPL1 (S1475N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732992	NM_012291.5(ESPL1):c.4435A>G (p.Arg1479Gly)	ESPL1 (R1479G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769823	NM_012291.5(ESPL1):c.4463T>A (p.Ile1488Asn)	ESPL1 (I1488N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3044670	NM_012291.5(ESPL1):c.4528G>A (p.Gly1510Arg)	ESPL1 (G1510R)	Single nucleotide variant (missense variant)	ESPL1-related disorder	GLikely benign
Select item 2266679	NM_012291.5(ESPL1):c.4577C>T (p.Ala1526Val)	ESPL1 (A1526V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276454	NM_012291.5(ESPL1):c.4656T>A (p.Ser1552Arg)	ESPL1 (S1552R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3090467	NM_012291.5(ESPL1):c.4676G>A (p.Arg1559Gln)	ESPL1 (R1559Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3276458	NM_012291.5(ESPL1):c.4702G>A (p.Ala1568Thr)	ESPL1 (A1568T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090469	NM_012291.5(ESPL1):c.4747G>A (p.Val1583Ile)	ESPL1 (V1583I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3090470	NM_012291.5(ESPL1):c.4876A>G (p.Ile1626Val)	ESPL1 (I1626V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090471	NM_012291.5(ESPL1):c.4886G>A (p.Arg1629His)	ESPL1 (R1629H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312460	NM_012291.5(ESPL1):c.5015G>A (p.Arg1672His)	ESPL1 (R1672H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090472	NM_012291.5(ESPL1):c.5026C>T (p.Leu1676Phe)	ESPL1 (L1676F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343380	NM_012291.5(ESPL1):c.5161G>A (p.Val1721Met)	ESPL1 (V1721M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057826	NM_012291.5(ESPL1):c.5169C>T (p.Asn1723=)	ESPL1	Single nucleotide variant (synonymous variant)	ESPL1-related disorder	GLikely benign

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