MESP1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057816, LOC130057817 +1763 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC111822949, LOC112272574 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057971, LOC130057972 +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	LOC130057938, LOC130057939 +611 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	LOC130057962, LOC130057963 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC130058025, LOC130058026 +500 more	Copy number gain	See cases	GPathogenic
Select item 154660	GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3	ABHD2, ACAN +311 more	Copy number gain	See cases	GPathogenic
Select item 58582	GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	ADAMTS17, ALDH1A3 +422 more	Copy number gain	See cases	GPathogenic
Select item 2259977	NM_020212.2(WDR93):c.1444A>G (p.Lys482Glu)	WDR93, MESP1 (K454E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618048	NM_020212.2(WDR93):c.1535T>C (p.Leu512Pro)	MESP1, WDR93 (L512P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604764	NM_020212.2(WDR93):c.1769A>G (p.Asp590Gly)	MESP1, WDR93 (D562G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267039	NM_020212.2(WDR93):c.1847C>T (p.Pro616Leu)	WDR93, MESP1 (P588L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344448	NM_020212.2(WDR93):c.1916A>C (p.Gln639Pro)	MESP1, WDR93 (Q611P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 154044	GRCh38/hg38 15q26.1(chr15:89738724-89788051)x1	ANPEP, LOC130057888 +7 more	Copy number loss	See cases	GUncertain significance
Select item 2306007	NM_020212.2(WDR93):c.1964A>C (p.Tyr655Ser)	WDR93, MESP1 (Y627S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552854	NM_020212.2(WDR93):c.1967G>A (p.Arg656Gln)	MESP1, WDR93 (R628Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2049052	NM_018670.4(MESP1):c.759C>G (p.Thr253=)	MESP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3030080	NM_018670.4(MESP1):c.746C>T (p.Ala249Val)	MESP1 (A249V)	Single nucleotide variant (missense variant)	MESP1-related condition	GUncertain significance
Select item 2912083	NM_018670.4(MESP1):c.743T>C (p.Leu248Pro)	MESP1 (L248P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1562601	NM_018670.4(MESP1):c.726C>G (p.Leu242=)	MESP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2107610	NM_018670.4(MESP1):c.724-8C>T	MESP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988361	NM_018670.4(MESP1):c.723+12C>T	MESP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1601156	NM_018670.4(MESP1):c.687T>G (p.Pro229=)	LOC130057888, MESP1	Single nucleotide variant (synonymous variant)	MESP1-related condition +1 more	GBenign
Select item 1629584	NM_018670.4(MESP1):c.669C>G (p.Phe223Leu)	LOC130057888, MESP1 (F223L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2197719	NM_018670.4(MESP1):c.661G>T (p.Ala221Ser)	LOC130057888, MESP1 (A221S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1561757	NM_018670.4(MESP1):c.657G>T (p.Pro219=)	LOC130057888, MESP1	Single nucleotide variant (synonymous variant)	MESP1-related condition +1 more	GBenign
Select item 1600508	NM_018670.4(MESP1):c.650G>A (p.Arg217His)	LOC130057888, MESP1 (R217H)	Single nucleotide variant (missense variant)	MESP1-related condition +1 more	GBenign
Select item 2057836	NM_018670.4(MESP1):c.627A>G (p.Gly209=)	LOC130057888, MESP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2560120	NM_018670.4(MESP1):c.625G>C (p.Gly209Arg)	LOC130057888, MESP1 (G209R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2192063	NM_018670.4(MESP1):c.624C>T (p.Pro208=)	LOC130057888, MESP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1426113	NM_018670.4(MESP1):c.568G>T (p.Gly190Cys)	LOC130057888, MESP1 (G190C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2780279	NM_018670.4(MESP1):c.561C>T (p.Arg187=)	LOC130057888, MESP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2067619	NM_018670.4(MESP1):c.560G>T (p.Arg187Leu)	LOC130057888, MESP1 (R187L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2698155	NM_018670.4(MESP1):c.542AGGGGC[2] (p.183QG[1])	LOC130057888, MESP1	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1633924	NM_018670.4(MESP1):c.526A>T (p.Thr176Ser)	LOC130057888, MESP1 (T176S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1537845	NM_018670.4(MESP1):c.520A>G (p.Met174Val)	LOC130057888, MESP1 (M174V)	Single nucleotide variant (missense variant)	MESP1-related condition +1 more	GBenign
Select item 1654286	NM_018670.4(MESP1):c.503A>G (p.Asp168Gly)	LOC130057888, MESP1 (D168G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2751389	NM_018670.4(MESP1):c.499C>G (p.Pro167Ala)	LOC130057888, MESP1 (P167A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2704626	NM_018670.4(MESP1):c.469G>T (p.Ala157Ser)	LOC130057888, MESP1 (A157S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3043619	NM_018670.4(MESP1):c.465T>G (p.Gly155=)	LOC130057888, MESP1	Single nucleotide variant (synonymous variant)	MESP1-related condition	GLikely benign
Select item 2068273	NM_018670.4(MESP1):c.459G>C (p.Gln153His)	LOC130057888, MESP1 (Q153H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1574446	NM_018670.4(MESP1):c.453C>G (p.Cys151Trp)	LOC130057888, MESP1 (C151W)	Single nucleotide variant (missense variant)	MESP1-related condition +1 more	GBenign
Select item 1926231	NM_018670.4(MESP1):c.449G>A (p.Arg150Gln)	LOC130057888, MESP1 (R150Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1528118	NM_018670.4(MESP1):c.435G>T (p.Glu145Asp)	MESP1, LOC130057888 (E145D)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2225709	NM_018670.4(MESP1):c.428G>C (p.Ser143Thr)	LOC130057888, MESP1 (S143T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2957388	NM_018670.4(MESP1):c.397A>T (p.Ile133Phe)	MESP1 (I133F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016040	NM_018670.4(MESP1):c.370G>T (p.Glu124Ter)	MESP1 (E124*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2961111	NM_018670.4(MESP1):c.370G>C (p.Glu124Gln)	MESP1 (E124Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1652552	NM_018670.4(MESP1):c.357C>T (p.Ser119=)	LOC130057889, MESP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1539215	NM_018670.4(MESP1):c.345C>T (p.Pro115=)	MESP1, LOC130057889	Single nucleotide variant (synonymous variant)	MESP1-related condition +1 more	GBenign/Likely benign
Select item 3012721	NM_018670.4(MESP1):c.340G>A (p.Ala114Thr)	LOC130057889, MESP1 (A114T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2601888	NM_018670.4(MESP1):c.338T>C (p.Val113Ala)	LOC130057889, MESP1 (V113A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548708	NM_018670.4(MESP1):c.332C>T (p.Pro111Leu)	LOC130057889, MESP1 (P111L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2174802	NM_018670.4(MESP1):c.332C>A (p.Pro111Gln)	LOC130057889, MESP1 (P111Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2214297	NM_018670.4(MESP1):c.331C>G (p.Pro111Ala)	LOC130057889, MESP1 (P111A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2725658	NM_018670.4(MESP1):c.329C>T (p.Pro110Leu)	LOC130057889, MESP1 (P110L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2645700	NM_018670.4(MESP1):c.310G>T (p.Glu104Ter)	LOC130057889, MESP1 (E104*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2474118	NM_018670.4(MESP1):c.309C>G (p.His103Gln)	LOC130057889, MESP1 (H103Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1489623	NM_018670.4(MESP1):c.308A>C (p.His103Pro)	LOC130057889, MESP1 (H103P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2882938	NM_018670.4(MESP1):c.301G>T (p.Ala101Ser)	LOC130057889, MESP1 (A101S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1361067	NM_018670.4(MESP1):c.271del (p.Glu91fs)	LOC130057889, MESP1 (E91fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2198284	NM_018670.4(MESP1):c.264T>C (p.Ser88=)	LOC130057889, MESP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1907849	NM_018670.4(MESP1):c.259G>A (p.Ala87Thr)	LOC130057889, MESP1 (A87T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2517267	NM_018670.4(MESP1):c.256A>C (p.Ser86Arg)	LOC130057889, MESP1 (S86R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1388855	NM_018670.4(MESP1):c.244G>C (p.Gly82Arg)	MESP1, LOC130057889 (G82R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2990627	NM_018670.4(MESP1):c.243C>A (p.Ser81Arg)	LOC130057889, MESP1 (S81R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2042881	NM_018670.4(MESP1):c.241A>G (p.Ser81Gly)	LOC130057889, MESP1 (S81G)	Single nucleotide variant (missense variant)	MESP1-related condition +1 more	GBenign
Select item 2053517	NM_018670.4(MESP1):c.236T>C (p.Leu79Pro)	LOC130057889, MESP1 (L79P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1568679	NM_018670.4(MESP1):c.234C>T (p.Arg78=)	LOC130057889, MESP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2043907	NM_018670.4(MESP1):c.218G>A (p.Gly73Asp)	LOC130057889, MESP1 (G73D)	Single nucleotide variant (missense variant)	MESP1-related condition +1 more	GBenign
Select item 2457133	NM_018670.4(MESP1):c.217G>C (p.Gly73Arg)	LOC130057889, MESP1 (G73R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1380006	NM_018670.4(MESP1):c.209G>A (p.Gly70Asp)	LOC130057889, MESP1 (G70D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2070838	NM_018670.4(MESP1):c.206T>C (p.Val69Ala)	LOC130057889, MESP1 (V69A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1600664	NM_018670.4(MESP1):c.204C>T (p.Ser68=)	LOC130057889, MESP1	Single nucleotide variant (synonymous variant)	MESP1-related condition +1 more	GBenign
Select item 2385578	NM_018670.4(MESP1):c.200C>G (p.Pro67Arg)	LOC130057889, MESP1 (P67R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363971	NM_018670.4(MESP1):c.191C>T (p.Pro64Leu)	LOC130057889, MESP1 (P64L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1548747	NM_018670.4(MESP1):c.182T>G (p.Leu61Arg)	LOC130057889, MESP1 (L61R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1600319	NM_018670.4(MESP1):c.174A>C (p.Pro58=)	LOC130057889, MESP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2348968	NM_018670.4(MESP1):c.169C>T (p.Arg57Trp)	LOC130057889, MESP1 (R57W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2911671	NM_018670.4(MESP1):c.167delinsTGCCGAGCCCCGT (p.Ala56delinsValProSerProVal)	LOC130057889, MESP1	Indel (inframe_indel)	not provided	GUncertain significance
Select item 2907159	NM_018670.4(MESP1):c.166_167insTGCCGAGCCCCGTGCCGAGCCCCG (p.Pro55_Ala56insValProSerProValProSerPro)	LOC130057889, MESP1	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 1649722	NM_018670.4(MESP1):c.166_167insTGCCGAGCCCCG (p.Pro55_Ala56insValProSerPro)	LOC130057889, MESP1	Insertion (inframe_insertion)	not provided	GBenign
Select item 1206409	NM_018670.4(MESP1):c.158dup (p.Ser54fs)	LOC130057889, MESP1 (S54fs)	Duplication (frameshift variant)	MESP1-related condition	GBenign
Select item 1598905	NM_018670.4(MESP1):c.157G>C (p.Ala53Pro)	MESP1, LOC130057889 (A53P)	Single nucleotide variant (missense variant)	MESP1-related condition +1 more	GBenign
Select item 1174964	NM_018670.4(MESP1):c.155_156insCCGAGCCCCGT (p.Ala53fs)	LOC130057889, MESP1 (A53fs)	Insertion (frameshift variant)	not specified	GBenign
Select item 1601029	NM_018670.4(MESP1):c.153C>A (p.Pro51=)	LOC130057889, MESP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1534442	NM_018670.4(MESP1):c.147C>T (p.Asp49=)	LOC130057889, MESP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1699171	NM_018670.4(MESP1):c.139C>G (p.Pro47Ala)	LOC130057889, MESP1 (P47A)	Single nucleotide variant (missense variant)	Congenital heart disease +1 more	GUncertain significance
Select item 2360932	NM_018670.4(MESP1):c.125C>T (p.Ser42Leu)	LOC130057889, MESP1 (S42L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2869930	NM_018670.4(MESP1):c.120A>G (p.Pro40=)	LOC130057889, MESP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2528271	NM_018670.4(MESP1):c.119C>T (p.Pro40Leu)	LOC130057889, MESP1 (P40L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1579217	NM_018670.4(MESP1):c.100C>G (p.Arg34Gly)	MESP1, LOC130057889 (R34G)	Single nucleotide variant (missense variant)	MESP1-related condition +1 more	GBenign
Select item 1500593	NM_018670.4(MESP1):c.97G>A (p.Gly33Ser)	LOC130057889, MESP1 (G33S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2218302	NM_018670.4(MESP1):c.68G>C (p.Arg23Pro)	LOC130057889, MESP1 (R23P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1655893	NM_018670.4(MESP1):c.45C>T (p.Leu15=)	LOC130057889, MESP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1598688	NM_018670.4(MESP1):c.33G>C (p.Glu11Asp)	LOC130057889, MESP1 (E11D)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2234956	NM_018670.4(MESP1):c.20C>T (p.Pro7Leu)	LOC130057889, MESP1 (P7L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2564592	NM_018670.4(MESP1):c.19C>T (p.Pro7Ser)	LOC130057889, MESP1 (P7S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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