8086[geneid] - 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 619949	NC_000012.12:g.53306793_53321761del	AAAS, LOC130007972 +3 more	Deletion	Glucocorticoid deficiency with achalasia	GPathogenic
Select item 1281922	NC_000012.12:g.53307270T>C	AAAS	Single nucleotide variant	not provided	GBenign
Select item 1264842	NC_000012.12:g.53307320T>C	AAAS	Single nucleotide variant	not provided	GBenign
Select item 309717	NM_015665.5(AAAS):c.*32C>T	AAAS	Single nucleotide variant	Glucocorticoid deficiency with achalasia	GLikely benign
Select item 1188616	NM_015665.6(AAAS):c.*3ATAA[1]	AAAS	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 2581229	NM_015665.6(AAAS):c.1639dup (p.Ter547LeuextTer?)	AAAS	Duplication (frameshift variant +1 more)	not specified	GUncertain significance
Select item 1617044	NM_015665.6(AAAS):c.1635C>T (p.His545=)	AAAS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2821659	NM_015665.6(AAAS):c.1614G>A (p.Leu538=)	AAAS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2080294	NM_015665.6(AAAS):c.1598G>A (p.Gly533Glu)	AAAS (G500E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 309718	NM_015665.6(AAAS):c.1597G>A (p.Gly533Arg)	AAAS (G533R +1 more)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency with achalasia +1 more	GBenign/Likely benign
Select item 2741025	NM_015665.6(AAAS):c.1596A>G (p.Pro532=)	AAAS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 309719	NM_015665.6(AAAS):c.1591C>T (p.Leu531Phe)	AAAS (L531F +1 more)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency with achalasia	GUncertain significance
Select item 759462	NM_015665.6(AAAS):c.1581T>C (p.Pro527=)	AAAS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2233396	NM_015665.6(AAAS):c.1577C>G (p.Ala526Gly)	AAAS (A526G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 309720	NM_015665.6(AAAS):c.1566C>T (p.Ser522=)	AAAS	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 309721	NM_015665.6(AAAS):c.1557T>C (p.Thr519=)	AAAS	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2104826	NM_015665.6(AAAS):c.1555A>C (p.Thr519Pro)	AAAS (T486P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1963682	NM_015665.6(AAAS):c.1554T>G (p.Phe518Leu)	AAAS (F485L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2805675	NM_015665.6(AAAS):c.1551C>T (p.Leu517=)	AAAS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007834	NM_015665.6(AAAS):c.1548C>T (p.Pro516=)	AAAS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019062	NM_015665.6(AAAS):c.1530C>G (p.Gly510=)	AAAS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776506	NM_015665.6(AAAS):c.1518T>A (p.Ala506=)	AAAS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3122918	NM_015665.6(AAAS):c.1517C>T (p.Ala506Val)	AAAS (A473V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2188953	NM_015665.6(AAAS):c.1517C>G (p.Ala506Gly)	AAAS (A506G +1 more)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency with achalasia +1 more	GConflicting classifications of pathogenicity
Select item 309722	NM_015665.6(AAAS):c.1515T>C (p.Pro505=)	AAAS	Single nucleotide variant (synonymous variant)	Glucocorticoid deficiency with achalasia +1 more	GBenign/Likely benign
Select item 309723	NM_015665.6(AAAS):c.1498C>T (p.Arg500Trp)	AAAS (R500W +1 more)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency with achalasia	GUncertain significance
Select item 722821	NM_015665.6(AAAS):c.1479T>C (p.Arg493=)	AAAS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2359070	NM_015665.6(AAAS):c.1478G>A (p.Arg493His)	AAAS (R460H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2742765	NM_015665.6(AAAS):c.1468C>T (p.Gln490Ter)	AAAS (Q490* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2820220	NM_015665.6(AAAS):c.1452G>C (p.Leu484=)	AAAS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988790	NM_015665.6(AAAS):c.1450C>T (p.Leu484=)	AAAS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 309724	NM_015665.6(AAAS):c.1450C>G (p.Leu484Val)	AAAS (L484V +1 more)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency with achalasia	GUncertain significance
Select item 2993070	NM_015665.6(AAAS):c.1449G>A (p.Pro483=)	AAAS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1709981	NM_015665.6(AAAS):c.1448del (p.Pro483fs)	AAAS (P450fs +1 more)	Deletion (frameshift variant)	Glucocorticoid deficiency with achalasia	GUncertain significance
Select item 1479731	NM_015665.6(AAAS):c.1448C>T (p.Pro483Leu)	AAAS (P483L +1 more)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency with achalasia +1 more	GUncertain significance
Select item 2815153	NM_015665.6(AAAS):c.1443C>T (p.His481=)	AAAS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3316508	NM_015665.6(AAAS):c.1436T>C (p.Ile479Thr)	AAAS (I479T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121773	NM_015665.6(AAAS):c.1433G>A (p.Arg478Gln)	AAAS (R478Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2413544	NM_015665.6(AAAS):c.1433G>T (p.Arg478Leu)	AAAS (R445L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2303092	NM_015665.6(AAAS):c.1433G>C (p.Arg478Pro)	AAAS (R445P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 5040	NM_015665.6(AAAS):c.1432C>T (p.Arg478Ter)	AAAS (R478* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 2893884	NM_015665.6(AAAS):c.1428A>G (p.Thr476=)	AAAS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2881527	NM_015665.6(AAAS):c.1425C>T (p.Ser475=)	AAAS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874460	NM_015665.6(AAAS):c.1417-4G>A	AAAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902412	NM_015665.6(AAAS):c.1417-5T>C	AAAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995905	NM_015665.6(AAAS):c.1417-6C>G	AAAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2731730	NM_015665.6(AAAS):c.1417-13C>T	AAAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2023580	NM_015665.6(AAAS):c.1417-14T>C	AAAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 883640	NM_015665.6(AAAS):c.1417-14T>G	AAAS	Single nucleotide variant (intron variant)	Glucocorticoid deficiency with achalasia +1 more	GConflicting classifications of pathogenicity
Select item 2820730	NM_015665.6(AAAS):c.1417-17C>A	AAAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2826393	NM_015665.6(AAAS):c.1417-19_1417-18del	AAAS	Deletion (intron variant)	not provided	GLikely benign
Select item 2864228	NM_015665.6(AAAS):c.1416+19T>C	AAAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960104	NM_015665.6(AAAS):c.1416+16T>C	AAAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796890	NM_015665.6(AAAS):c.1416+15C>G	AAAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2777810	NM_015665.6(AAAS):c.1416+14G>A	AAAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958401	NM_015665.6(AAAS):c.1416+9G>A	AAAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 309725	NM_015665.6(AAAS):c.1416+8C>T	AAAS	Single nucleotide variant (intron variant)	Glucocorticoid deficiency with achalasia +1 more	GConflicting classifications of pathogenicity
Select item 2872573	NM_015665.6(AAAS):c.1416+2T>C	AAAS	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 3001340	NM_015665.6(AAAS):c.1416+1G>A	AAAS	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2831169	NM_015665.6(AAAS):c.1405C>T (p.Leu469=)	AAAS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1500187	NM_015665.6(AAAS):c.1376C>T (p.Thr459Ile)	AAAS (T459I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2878569	NM_015665.6(AAAS):c.1366del (p.Gln456fs)	AAAS (Q423fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2784610	NM_015665.6(AAAS):c.1365C>T (p.Pro455=)	AAAS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2317757	NM_015665.6(AAAS):c.1364C>T (p.Pro455Leu)	AAAS (P422L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1685479	NM_015665.6(AAAS):c.1357_1358dup (p.Gln454fs)	AAAS (Q421fs +1 more)	Duplication (frameshift variant)	Glucocorticoid deficiency with achalasia	GPathogenic
Select item 2773257	NM_015665.6(AAAS):c.1344G>A (p.Gln448=)	AAAS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2728215	NM_015665.6(AAAS):c.1341C>T (p.Ile447=)	AAAS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 596786	NM_015665.6(AAAS):c.1332-2A>T	AAAS	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2956491	NM_015665.6(AAAS):c.1332-13C>T	AAAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778466	NM_015665.6(AAAS):c.1332-17C>T	AAAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2775911	NM_015665.6(AAAS):c.1332-18G>T	AAAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007349	NM_015665.6(AAAS):c.1331+16G>A	AAAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971696	NM_015665.6(AAAS):c.1331+16G>T	AAAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987585	NM_015665.6(AAAS):c.1331+11T>C	AAAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2789601	NM_015665.6(AAAS):c.1331+7G>A	AAAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3363960	NM_015665.6(AAAS):c.1331+3_1331+4delinsGC	AAAS	Indel (intron variant)	not provided	GUncertain significance
Select item 2870426	NM_015665.6(AAAS):c.1331+1G>C	AAAS	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 264994	NM_015665.6(AAAS):c.1331+1G>A	AAAS	Single nucleotide variant (splice donor variant)	Glucocorticoid deficiency with achalasia +1 more	GPathogenic
Select item 2827128	NM_015665.6(AAAS):c.1320dup (p.Leu441fs)	AAAS (L441fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2878726	NM_015665.6(AAAS):c.1320G>A (p.Glu440=)	AAAS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3319117	NM_015665.6(AAAS):c.1319A>T (p.Glu440Val)	AAAS (E407V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2735883	NM_015665.6(AAAS):c.1310_1311del (p.Pro437fs)	AAAS (P404fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 710451	NM_015665.6(AAAS):c.1311T>C (p.Pro437=)	AAAS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2306727	NM_015665.6(AAAS):c.1307G>A (p.Ser436Asn)	AAAS (S403N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2792311	NM_015665.6(AAAS):c.1305C>T (p.Asn435=)	AAAS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2803466	NM_015665.6(AAAS):c.1302A>T (p.Arg434=)	AAAS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 309726	NM_015665.6(AAAS):c.1301G>A (p.Arg434Gln)	AAAS (R434Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 631684	NM_015665.6(AAAS):c.1300C>T (p.Arg434Ter)	AAAS (R434* +1 more)	Single nucleotide variant (nonsense)	Glucocorticoid deficiency with achalasia +1 more	GConflicting classifications of pathogenicity
Select item 2082083	NM_015665.6(AAAS):c.1296C>T (p.Arg432=)	AAAS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1370665	NM_015665.6(AAAS):c.1295G>A (p.Arg432His)	AAAS (R399H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 5047	NM_015665.6(AAAS):c.1288C>T (p.Leu430Phe)	AAAS (L430F +1 more)	Single nucleotide variant (missense variant)	Achalasia-alacrima syndrome	GPathogenic
Select item 2959238	NM_015665.6(AAAS):c.1287C>A (p.Leu429=)	AAAS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2584864	NM_015665.6(AAAS):c.1264_1273del (p.Gln422fs)	AAAS (Q389fs +1 more)	Deletion (frameshift variant)	Glucocorticoid deficiency with achalasia	GPathogenic
Select item 2894597	NM_015665.6(AAAS):c.1272T>C (p.Gly424=)	AAAS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2538455	NM_015665.6(AAAS):c.1264C>G (p.Gln422Glu)	AAAS (Q389E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2992426	NM_015665.6(AAAS):c.1263A>G (p.Val421=)	AAAS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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