ClinVar for MedGen (Select 82889) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254953	NM_015665.6(AAAS):c.56A>G (p.Tyr19Cys)	AAAS (Y19C)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency with achalasia	GUncertain significance
Select item 3251997	NM_015665.6(AAAS):c.281del (p.Asn94fs)	AAAS (N94fs)	Deletion (frameshift variant)	Glucocorticoid deficiency with achalasia	GLikely pathogenic
Select item 3251594	NM_015665.6(AAAS):c.446+1G>A	AAAS	Single nucleotide variant (splice donor variant)	Glucocorticoid deficiency with achalasia	GPathogenic
Select item 3062290	NM_015665.6(AAAS):c.301G>T (p.Glu101Ter)	AAAS (E101*)	Single nucleotide variant (nonsense)	Glucocorticoid deficiency with achalasia	GLikely pathogenic
Select item 2690789	NM_015665.6(AAAS):c.899G>T (p.Ser300Ile)	AAAS (S267I +1 more)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency with achalasia	GUncertain significance
Select item 2671739	NM_015665.6(AAAS):c.649A>G (p.Ile217Val)	AAAS (I184V +1 more)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency with achalasia	GUncertain significance
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 2581608	NM_015665.6(AAAS):c.355C>T (p.Arg119Ter)	AAAS (R119*)	Single nucleotide variant (nonsense)	Glucocorticoid deficiency with achalasia +1 more	GPathogenic
Select item 2575044	NM_015665.6(AAAS):c.211del (p.His71fs)	AAAS (H71fs)	Deletion (frameshift variant)	Glucocorticoid deficiency with achalasia +1 more	GPathogenic
Select item 2444430	NM_015665.6(AAAS):c.1087G>A (p.Gly363Ser)	AAAS (G330S +1 more)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency with achalasia	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 1934393	NM_015665.6(AAAS):c.810+1G>A	AAAS	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1805632	NM_015665.6(AAAS):c.1223G>A (p.Gly408Glu)	AAAS (G375E +1 more)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency with achalasia	GUncertain significance
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 1685480	NM_015665.6(AAAS):c.887C>A (p.Ser296Tyr)	AAAS (S263Y +1 more)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency with achalasia	GPathogenic
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 1676249	NM_015665.6(AAAS):c.847C>T (p.Pro283Ser)	AAAS (P250S +1 more)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency with achalasia	GUncertain significance
Select item 1676231	NM_015665.6(AAAS):c.721C>T (p.His241Tyr)	AAAS (H208Y +1 more)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency with achalasia	GUncertain significance
Select item 1524945	NM_015665.6(AAAS):c.638G>C (p.Cys213Ser)	AAAS (C180S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	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 1323792	NM_015665.6(AAAS):c.781_782del (p.Ala262fs)	AAAS (A229fs +1 more)	Microsatellite (frameshift variant)	Glucocorticoid deficiency with achalasia	GLikely pathogenic
Select item 1323789	NM_015665.6(AAAS):c.762del (p.Ser255fs)	AAAS (S222fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1323528	NM_015665.6(AAAS):c.852G>A (p.Trp284Ter)	AAAS (W251* +1 more)	Single nucleotide variant (nonsense)	Glucocorticoid deficiency with achalasia	GPathogenic
Select item 1323506	NM_015665.6(AAAS):c.901A>T (p.Lys301Ter)	AAAS (K268* +1 more)	Single nucleotide variant (nonsense)	Glucocorticoid deficiency with achalasia	GLikely pathogenic
Select item 1185549	NM_015665.6(AAAS):c.124-33A>C	AAAS	Single nucleotide variant (intron variant)	Glucocorticoid deficiency with achalasia +1 more	GBenign
Select item 1185548	NM_015665.6(AAAS):c.251+59A>C	AAAS	Single nucleotide variant (intron variant)	Glucocorticoid deficiency with achalasia +1 more	GBenign
Select item 1185547	NM_015665.6(AAAS):c.252-142C>A	AAAS	Single nucleotide variant (intron variant)	Glucocorticoid deficiency with achalasia +1 more	GBenign
Select item 1185546	NM_015665.6(AAAS):c.689+71C>G	AAAS	Single nucleotide variant (intron variant)	Glucocorticoid deficiency with achalasia +1 more	GBenign
Select item 1185545	NM_015665.6(AAAS):c.1088-59A>G	AAAS	Single nucleotide variant (intron variant)	Glucocorticoid deficiency with achalasia +1 more	GBenign
Select item 1183131	NM_015665.6(AAAS):c.124-20T>C	AAAS	Single nucleotide variant (intron variant)	Glucocorticoid deficiency with achalasia +1 more	GBenign
Select item 1119992	NM_015665.6(AAAS):c.250del (p.Trp84fs)	AAAS (W84fs)	Deletion (frameshift variant)	Glucocorticoid deficiency with achalasia	GPathogenic
Select item 1119991	NM_015665.6(AAAS):c.399+1G>A	AAAS	Single nucleotide variant (splice donor variant)	Glucocorticoid deficiency with achalasia	GPathogenic
Select item 1027994	NM_015665.6(AAAS):c.772C>T (p.Arg258Trp)	AAAS (R258W +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 883693	NM_015665.6(AAAS):c.-70T>C	AAAS, LOC130007973	Single nucleotide variant (5 prime UTR variant)	Glucocorticoid deficiency with achalasia	GLikely benign
Select item 883641	NM_015665.6(AAAS):c.1229G>A (p.Arg410His)	AAAS (R377H +1 more)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency with achalasia	GUncertain significance
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 882896	NM_015665.6(AAAS):c.307+13C>T	AAAS	Single nucleotide variant (intron variant)	Glucocorticoid deficiency with achalasia +1 more	GConflicting classifications of pathogenicity
Select item 882895	NM_015665.6(AAAS):c.308T>C (p.Val103Ala)	AAAS (V103A)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency with achalasia +1 more	GConflicting classifications of pathogenicity
Select item 882894	NM_015665.6(AAAS):c.327G>A (p.Thr109=)	AAAS	Single nucleotide variant (synonymous variant)	Glucocorticoid deficiency with achalasia +1 more	GConflicting classifications of pathogenicity
Select item 882893	NM_015665.6(AAAS):c.362C>T (p.Ala121Val)	AAAS (A121V)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency with achalasia	GUncertain significance
Select item 881745	NM_015665.6(AAAS):c.667G>C (p.Asp223His)	AAAS (D190H +1 more)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency with achalasia	GUncertain significance
Select item 881744	NM_015665.6(AAAS):c.808C>T (p.Arg270Trp)	AAAS (R237W +1 more)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency with achalasia +1 more	GUncertain significance
Select item 881743	NM_015665.6(AAAS):c.819T>C (p.Asp273=)	AAAS	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 881293	NM_015665.6(AAAS):c.936-5C>T	AAAS	Single nucleotide variant (intron variant)	Glucocorticoid deficiency with achalasia	GUncertain significance
Select item 881292	NM_015665.6(AAAS):c.981A>G (p.Leu327=)	AAAS	Single nucleotide variant (synonymous variant)	Glucocorticoid deficiency with achalasia +1 more	GConflicting classifications of pathogenicity
Select item 881291	NM_015665.6(AAAS):c.988C>T (p.Arg330Cys)	AAAS (R297C +1 more)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency with achalasia	GUncertain significance
Select item 872168	NM_015665.6(AAAS):c.464G>A (p.Arg155His)	AAAS (R155H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 841221	NM_015665.6(AAAS):c.688C>T (p.Arg230Ter)	AAAS (R197* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 797998	NM_015665.6(AAAS):c.1070C>T (p.Ser357Phe)	AAAS (S324F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 739225	NM_015665.6(AAAS):c.327G>T (p.Thr109=)	AAAS	Single nucleotide variant (synonymous variant)	Glucocorticoid deficiency with achalasia +1 more	GBenign/Likely benign
Select item 638496	NM_015665.5(AAAS):c.936_937delAG	AAAS	Microsatellite	Glucocorticoid deficiency with achalasia +1 more	GPathogenic/Likely pathogenic
Select item 631685	NM_015665.6(AAAS):c.936-2A>G	AAAS	Single nucleotide variant (splice acceptor variant)	Glucocorticoid deficiency with achalasia	GUncertain significance
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 619949	NC_000012.12:g.53306793_53321761del	AAAS, LOC130007972 +3 more	Deletion	Glucocorticoid deficiency with achalasia	GPathogenic
Select item 429876	NM_015665.6(AAAS):c.885G>A (p.Trp295Ter)	AAAS (W295* +1 more)	Single nucleotide variant (nonsense)	Glucocorticoid deficiency with achalasia +1 more	GPathogenic
Select item 429542	NM_015665.6(AAAS):c.1191dup (p.Glu398fs)	AAAS (E365fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 427742	NM_015665.6(AAAS):c.200C>T (p.Thr67Ile)	AAAS (T67I)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency with achalasia	GUncertain significance
Select item 309746	NM_015665.6(AAAS):c.-130C>T	AAAS, LOC130007973	Single nucleotide variant (5 prime UTR variant)	Glucocorticoid deficiency with achalasia +1 more	GConflicting classifications of pathogenicity
Select item 309745	NM_015665.6(AAAS):c.-84G>A	LOC130007973, AAAS	Single nucleotide variant (5 prime UTR variant)	Glucocorticoid deficiency with achalasia	GUncertain significance
Select item 309744	NM_015665.6(AAAS):c.-73G>A	AAAS, LOC130007973	Single nucleotide variant (5 prime UTR variant)	Glucocorticoid deficiency with achalasia	GUncertain significance
Select item 309743	NM_015665.6(AAAS):c.11T>C (p.Leu4Pro)	AAAS (L4P)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency with achalasia	GUncertain significance
Select item 309742	NM_015665.6(AAAS):c.63C>G (p.His21Gln)	AAAS (H21Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 309741	NM_015665.6(AAAS):c.65A>G (p.Asn22Ser)	AAAS (N22S)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency with achalasia	GUncertain significance
Select item 309740	NM_015665.6(AAAS):c.124-4A>G	AAAS	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 309739	NM_015665.6(AAAS):c.234G>A (p.Lys78=)	AAAS	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 309738	NM_015665.6(AAAS):c.258T>A (p.Asp86Glu)	AAAS (D86E)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency with achalasia	GUncertain significance
Select item 309737	NM_015665.6(AAAS):c.259G>T (p.Val87Leu)	AAAS (V87L)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency with achalasia	GUncertain significance
Select item 309736	NM_015665.6(AAAS):c.333C>T (p.Ser111=)	AAAS	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 309735	NM_015665.6(AAAS):c.414T>C (p.Asp138=)	AAAS	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 309734	NM_015665.6(AAAS):c.663C>G (p.Thr221=)	AAAS	Single nucleotide variant (synonymous variant)	Glucocorticoid deficiency with achalasia +1 more	GConflicting classifications of pathogenicity
Select item 309733	NM_015665.6(AAAS):c.843C>G (p.Pro281=)	AAAS	Single nucleotide variant (synonymous variant)	Glucocorticoid deficiency with achalasia +1 more	GConflicting classifications of pathogenicity
Select item 309732	NM_015665.6(AAAS):c.894C>T (p.Asp298=)	AAAS	Single nucleotide variant (synonymous variant)	Glucocorticoid deficiency with achalasia +1 more	GConflicting classifications of pathogenicity
Select item 309731	NM_015665.6(AAAS):c.912T>G (p.Ala304=)	AAAS	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 309730	NM_015665.6(AAAS):c.939C>T (p.Val313=)	AAAS	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 309729	NM_015665.6(AAAS):c.996+12C>T	AAAS	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 309728	NM_015665.6(AAAS):c.1244T>C (p.Met415Thr)	AAAS (M415T +1 more)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency with achalasia +1 more	GUncertain significance
Select item 309727	NM_015665.6(AAAS):c.1249+8G>A	AAAS	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 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 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 309717	NM_015665.5(AAAS):c.*32C>T	AAAS	Single nucleotide variant	Glucocorticoid deficiency with achalasia	GLikely benign
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 264993	NM_015665.6(AAAS):c.1144_1147del (p.Ser382fs)	AAAS (S349fs +1 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 264991	NM_015665.6(AAAS):c.1058T>C (p.Ile353Thr)	AAAS (I353T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 202169	NM_015665.6(AAAS):c.938T>C (p.Val313Ala)	AAAS (V313A +1 more)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency with achalasia	GLikely pathogenic
Select item 128252	NM_015665.6(AAAS):c.855C>T (p.Phe285=)	AAAS	Single nucleotide variant (synonymous variant)	Glucocorticoid deficiency with achalasia +1 more	GBenign
Select item 128251	NM_015665.6(AAAS):c.679T>C (p.Leu227=)	AAAS	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 5048	NM_015665.6(AAAS):c.251G>A (p.Trp84Ter)	AAAS (W84*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 5046	NM_015665.6(AAAS):c.1087+1G>A	AAAS	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 5045	NM_015665.6(AAAS):c.787T>C (p.Ser263Pro)	AAAS (S263P +1 more)	Single nucleotide variant (missense variant)	Spastic paraparesis +5 more	GPathogenic/Likely pathogenic
Select item 5044	NM_015665.6(AAAS):c.43C>A (p.Gln15Lys)	AAAS (Q15K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 5042	NM_015665.6(AAAS):c.400-2A>G	AAAS	Single nucleotide variant (splice acceptor variant)	Glucocorticoid deficiency with achalasia	GPathogenic
Select item 5041	NM_015665.6(AAAS):c.980dup (p.Ser328fs)	AAAS (S328fs +1 more)	Duplication (frameshift variant)	Glucocorticoid deficiency with achalasia	GPathogenic
Select item 5040	NM_015665.6(AAAS):c.1432C>T (p.Arg478Ter)	AAAS (R478* +1 more)	Single nucleotide variant (nonsense)	Glucocorticoid deficiency with achalasia +2 more	GPathogenic

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