ClinVar for MedGen (Select 440578) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244336	NC_000012.11:g.(?_122064648)_(122079549_?)dup	ORAI1	Duplication	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 3244335	NC_000012.11:g.(?_122064648)_(122287716_?)del	HPD, MORN3 +4 more	Deletion	Combined immunodeficiency due to ORAI1 deficiency +1 more	GPathogenic
Select item 3236451	NM_032790.4(ORAI1):c.129_133del (p.Pro44fs)	LOC130008987, ORAI1 (P44fs)	Deletion (frameshift variant)	Combined immunodeficiency due to ORAI1 deficiency	GLikely pathogenic
Select item 2951680	NM_032790.4(ORAI1):c.526T>C (p.Trp176Arg)	ORAI1 (W176R)	Single nucleotide variant (missense variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2951604	NM_032790.4(ORAI1):c.88_96dup (p.Arg32_Arg33insSerArgArg)	LOC130008987, ORAI1	Duplication (inframe_insertion +1 more)	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2950959	NM_032790.4(ORAI1):c.440A>T (p.Asn147Ile)	ORAI1 (N147I)	Single nucleotide variant (missense variant +1 more)	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2950472	NM_032790.4(ORAI1):c.729G>T (p.Met243Ile)	ORAI1 (M243I)	Single nucleotide variant (missense variant +1 more)	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2950371	NM_032790.4(ORAI1):c.816G>C (p.Glu272Asp)	ORAI1 (E272D)	Single nucleotide variant (missense variant +1 more)	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2948849	NM_032790.4(ORAI1):c.131_132insGCCGCCGCGGGGACGGGGAGCCCCCGGGGGC (p.Pro47fs)	LOC130008987, ORAI1 (P47fs)	Microsatellite (non-coding transcript variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2948734	NM_032790.4(ORAI1):c.752T>C (p.Ile251Thr)	ORAI1 (I251T)	Single nucleotide variant (missense variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2945699	NM_032790.4(ORAI1):c.712G>C (p.Ala238Pro)	ORAI1 (A238P)	Single nucleotide variant (missense variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2945481	NM_032790.4(ORAI1):c.591C>T (p.Val197=)	ORAI1	Single nucleotide variant (synonymous variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GLikely benign
Select item 2945231	NM_032790.4(ORAI1):c.466A>G (p.Asn156Asp)	ORAI1 (N156D)	Single nucleotide variant (missense variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2944495	NM_032790.4(ORAI1):c.505dup (p.His169fs)	ORAI1 (H169fs)	Duplication (frameshift variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GLikely pathogenic
Select item 2944183	NM_032790.4(ORAI1):c.750T>C (p.Phe250=)	ORAI1	Single nucleotide variant (synonymous variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GLikely benign
Select item 2943522	NM_032790.4(ORAI1):c.275C>T (p.Thr92Ile)	LOC130008987, ORAI1 (T92I)	Single nucleotide variant (missense variant +1 more)	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2942292	NM_032790.4(ORAI1):c.399G>A (p.Val133=)	ORAI1	Single nucleotide variant (synonymous variant +1 more)	Combined immunodeficiency due to ORAI1 deficiency +1 more	GLikely benign
Select item 2941383	NM_032790.4(ORAI1):c.382A>C (p.Thr128Pro)	ORAI1 (T128P)	Single nucleotide variant (missense variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2940955	NM_032790.4(ORAI1):c.271C>A (p.Arg91=)	ORAI1, LOC130008987	Single nucleotide variant (synonymous variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GLikely benign
Select item 2940443	NM_032790.4(ORAI1):c.492C>T (p.Pro164=)	ORAI1	Single nucleotide variant (synonymous variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GLikely benign
Select item 2940091	NM_032790.4(ORAI1):c.303+13C>T	LOC130008987, ORAI1	Single nucleotide variant (intron variant)	Myopathy, tubular aggregate, 2 +1 more	GLikely benign
Select item 2940059	NM_032790.4(ORAI1):c.58_59delinsAT (p.Gly20Ile)	LOC130008987, ORAI1 (G20I)	Indel (missense variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2939965	NM_032790.4(ORAI1):c.564_565delinsTC (p.Ala189Pro)	ORAI1 (A189P)	Indel (missense variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2939281	NM_032790.4(ORAI1):c.384A>G (p.Thr128=)	ORAI1	Single nucleotide variant (synonymous variant +1 more)	Combined immunodeficiency due to ORAI1 deficiency +1 more	GLikely benign
Select item 2939223	NM_032790.4(ORAI1):c.807G>A (p.Gln269=)	ORAI1	Single nucleotide variant (synonymous variant +1 more)	Combined immunodeficiency due to ORAI1 deficiency +1 more	GLikely benign
Select item 2939075	NM_032790.4(ORAI1):c.259A>G (p.Lys87Glu)	LOC130008987, ORAI1 (K87E)	Single nucleotide variant (missense variant +1 more)	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2938496	NM_032790.4(ORAI1):c.6T>C (p.His2=)	LOC130008987, ORAI1	Single nucleotide variant (synonymous variant +1 more)	Combined immunodeficiency due to ORAI1 deficiency +1 more	GLikely benign
Select item 2938173	NC_000012.12:g.121641037G>T	ORAI1	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GLikely benign
Select item 2937653	NM_032790.4(ORAI1):c.426C>G (p.Thr142=)	ORAI1	Single nucleotide variant (synonymous variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GLikely benign
Select item 2937355	NM_032790.4(ORAI1):c.171C>G (p.Gly57=)	LOC130008987, ORAI1	Single nucleotide variant (synonymous variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GLikely benign
Select item 2937222	NM_032790.4(ORAI1):c.61G>C (p.Gly21Arg)	LOC130008987, ORAI1 (G21R)	Single nucleotide variant (missense variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2937199	NM_032790.4(ORAI1):c.54A>G (p.Pro18=)	LOC130008987, ORAI1	Single nucleotide variant (synonymous variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GLikely benign
Select item 2937135	NM_032790.4(ORAI1):c.173A>G (p.Gln58Arg)	ORAI1, LOC130008987 (Q58R)	Single nucleotide variant (missense variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2937007	NM_032790.4(ORAI1):c.103G>A (p.Gly35Arg)	LOC130008987, ORAI1 (G35R)	Single nucleotide variant (missense variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2936868	NM_032790.4(ORAI1):c.408T>C (p.Phe136=)	ORAI1	Single nucleotide variant (synonymous variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GLikely benign
Select item 2936813	NM_032790.4(ORAI1):c.665C>A (p.Ala222Asp)	ORAI1 (A222D)	Single nucleotide variant (missense variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2936808	NM_032790.4(ORAI1):c.165G>T (p.Trp55Cys)	LOC130008987, ORAI1 (W55C)	Single nucleotide variant (missense variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2936618	NM_032790.4(ORAI1):c.265T>G (p.Ser89Ala)	LOC130008987, ORAI1 (S89A)	Single nucleotide variant (missense variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2936404	NM_032790.4(ORAI1):c.131C>T (p.Pro44Leu)	LOC130008987, ORAI1 (P44L)	Single nucleotide variant (missense variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2936163	NM_032790.4(ORAI1):c.46C>A (p.Leu16Ile)	LOC130008987, ORAI1 (L16I)	Single nucleotide variant (missense variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2936150	NM_032790.4(ORAI1):c.306G>A (p.Val102=)	ORAI1	Single nucleotide variant (synonymous variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GLikely benign
Select item 2935148	NM_032790.4(ORAI1):c.201C>T (p.Asn67=)	LOC130008987, ORAI1	Single nucleotide variant (synonymous variant +1 more)	Combined immunodeficiency due to ORAI1 deficiency +1 more	GLikely benign
Select item 2935079	NM_032790.4(ORAI1):c.46C>T (p.Leu16Phe)	LOC130008987, ORAI1 (L16F)	Single nucleotide variant (missense variant +1 more)	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2935000	NM_032790.4(ORAI1):c.187G>A (p.Val63Met)	LOC130008987, ORAI1 (V63M)	Single nucleotide variant (missense variant +1 more)	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2934930	NM_032790.4(ORAI1):c.246C>T (p.Ser82=)	LOC130008987, ORAI1	Single nucleotide variant (synonymous variant +1 more)	Combined immunodeficiency due to ORAI1 deficiency +1 more	GLikely benign
Select item 2934925	NM_032790.4(ORAI1):c.657C>T (p.Gly219=)	ORAI1	Single nucleotide variant (synonymous variant +1 more)	Combined immunodeficiency due to ORAI1 deficiency +1 more	GLikely benign
Select item 2934909	NM_032790.4(ORAI1):c.102C>T (p.Ser34=)	LOC130008987, ORAI1	Single nucleotide variant (synonymous variant +1 more)	Combined immunodeficiency due to ORAI1 deficiency +1 more	GLikely benign
Select item 2934474	NM_032790.4(ORAI1):c.499C>T (p.Arg167Cys)	ORAI1 (R167C)	Single nucleotide variant (missense variant +1 more)	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2934365	NM_032790.4(ORAI1):c.479T>C (p.Val160Ala)	ORAI1 (V160A)	Single nucleotide variant (missense variant +1 more)	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2933860	NM_032790.4(ORAI1):c.574G>T (p.Val192Leu)	ORAI1 (V192L)	Single nucleotide variant (missense variant +1 more)	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2932954	NM_032790.4(ORAI1):c.264C>G (p.Ala88=)	LOC130008987, ORAI1	Single nucleotide variant (synonymous variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GLikely benign
Select item 2932828	NM_032790.4(ORAI1):c.863A>G (p.His288Arg)	ORAI1 (H288R)	Single nucleotide variant (missense variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2932668	NM_032790.4(ORAI1):c.159G>C (p.Pro53=)	LOC130008987, ORAI1	Single nucleotide variant (synonymous variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GLikely benign
Select item 2932491	NM_032790.4(ORAI1):c.63C>T (p.Gly21=)	LOC130008987, ORAI1	Single nucleotide variant (synonymous variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GLikely benign
Select item 2932106	NM_032790.4(ORAI1):c.71C>T (p.Thr24Ile)	LOC130008987, ORAI1 (T24I)	Single nucleotide variant (missense variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2932078	NM_032790.4(ORAI1):c.343T>A (p.Tyr115Asn)	ORAI1 (Y115N)	Single nucleotide variant (missense variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2931058	NM_032790.4(ORAI1):c.282T>C (p.Ala94=)	LOC130008987, ORAI1	Single nucleotide variant (synonymous variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GLikely benign
Select item 2930744	NM_032790.4(ORAI1):c.133C>G (p.Pro45Ala)	LOC130008987, ORAI1 (P45A)	Single nucleotide variant (missense variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2930250	NM_032790.4(ORAI1):c.208_209del (p.Ser70fs)	LOC130008987, ORAI1 (S70fs)	Deletion (frameshift variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GPathogenic
Select item 2928927	NM_032790.4(ORAI1):c.116C>T (p.Pro39Leu)	LOC130008987, ORAI1 (P39L)	Single nucleotide variant (missense variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2927424	NM_032790.4(ORAI1):c.736T>C (p.Phe246Leu)	ORAI1 (F246L)	Single nucleotide variant (missense variant +1 more)	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2927050	NM_032790.4(ORAI1):c.762C>T (p.Ala254=)	ORAI1	Single nucleotide variant (synonymous variant +1 more)	Combined immunodeficiency due to ORAI1 deficiency +1 more	GLikely benign
Select item 2926928	NM_032790.4(ORAI1):c.775C>A (p.Arg259Ser)	ORAI1 (R259S)	Single nucleotide variant (missense variant +1 more)	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2926876	NM_032790.4(ORAI1):c.637A>G (p.Ser213Gly)	ORAI1 (S213G)	Single nucleotide variant (missense variant +1 more)	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2926484	NM_032790.4(ORAI1):c.180C>T (p.Tyr60=)	LOC130008987, ORAI1	Single nucleotide variant (synonymous variant +1 more)	Combined immunodeficiency due to ORAI1 deficiency +1 more	GLikely benign
Select item 2926111	NM_032790.4(ORAI1):c.709A>G (p.Ile237Val)	ORAI1 (I237V)	Single nucleotide variant (missense variant +1 more)	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2923413	NM_032790.4(ORAI1):c.21G>A (p.Pro7=)	LOC130008987, ORAI1	Single nucleotide variant (synonymous variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GLikely benign
Select item 2923344	NM_032790.4(ORAI1):c.473A>G (p.Asn158Ser)	ORAI1 (N158S)	Single nucleotide variant (missense variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2923314	NM_032790.4(ORAI1):c.79A>T (p.Ser27Cys)	LOC130008987, ORAI1 (S27C)	Single nucleotide variant (missense variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2923218	NM_032790.4(ORAI1):c.369C>T (p.Phe123=)	ORAI1	Single nucleotide variant (synonymous variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GLikely benign
Select item 2922477	NM_032790.4(ORAI1):c.104G>A (p.Gly35Glu)	LOC130008987, ORAI1 (G35E)	Single nucleotide variant (missense variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2637958	NM_032790.4(ORAI1):c.391G>A (p.Val131Met)	ORAI1 (V131M)	Single nucleotide variant (missense variant +1 more)	Myopathy, tubular aggregate, 2 +1 more	GConflicting classifications of pathogenicity
Select item 2419025	NC_000012.12:g.121641288C>T	ORAI1 (T184M)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2196787	NC_000012.12:g.121641633A>G	ORAI1 (H299R)	Single nucleotide variant	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2190794	NC_000012.12:g.121641193C>T	ORAI1	Single nucleotide variant	Myopathy, tubular aggregate, 2 +1 more	GLikely benign
Select item 2185541	NC_000012.12:g.121627011C>T	LOC130008987, ORAI1	Single nucleotide variant	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2171477	NC_000012.12:g.121626872C>G	LOC130008987, ORAI1 (A42G)	Single nucleotide variant	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2171110	NC_000012.12:g.121641539C>T	ORAI1 (R268*)	Single nucleotide variant	Myopathy, tubular aggregate, 2 +1 more	GLikely pathogenic
Select item 2166766	NC_000012.12:g.121641278G>A	ORAI1 (V181I)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2161001	NC_000012.12:g.121626803G>T	LOC130008987, ORAI1 (G21C)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2160732	NM_032790.4(ORAI1):c.131_141delCACCGCCGCCG (p.Pro44Leufs)	LOC130008987, ORAI1 (P44fs)	Deletion	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2158341	NC_000012.12:g.121641395G>A	ORAI1 (A220T)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2156524	NM_032790.4(ORAI1):c.303+17C>T	LOC130008987, ORAI1	Single nucleotide variant (intron variant)	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2140208	NC_000012.12:g.121641237G>A	ORAI1 (R167H)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2134777	NC_000012.12:g.121641348A>T	ORAI1 (K204M)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2133634	NC_000012.12:g.121626760C>T	LOC130008987, ORAI1	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2132902	NC_000012.12:g.121626996C>T	LOC130008987, ORAI1	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2130433	NC_000012.12:g.121641615_121641616delinsAG	ORAI1 (P293Q)	Indel	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2130432	NM_032790.4(ORAI1):c.874delC (p.His292Thrfs)	ORAI1 (H292fs)	Deletion	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2122738	NC_000012.12:g.121626843G>T	LOC130008987, ORAI1 (S34I)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2118192	NM_032790.4(ORAI1):c.135G>A (p.Pro45=)	LOC130008987, ORAI1	Single nucleotide variant	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2118143	NC_000012.12:g.121626947_121626957delinsTG	LOC130008987, ORAI1	Indel	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2117233	NC_000012.12:g.121626930C>A	LOC130008987, ORAI1	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2113262	NC_000012.12:g.121627034T>C	LOC130008987, ORAI1 (L96P)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2110153	NC_000012.12:g.121641353C>T	ORAI1 (P206S)	Single nucleotide variant	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2095149	NC_000012.12:g.121626862G>T	LOC130008987, ORAI1	Single nucleotide variant	Myopathy, tubular aggregate, 2 +1 more	GLikely benign
Select item 2089390	NC_000012.12:g.121641289G>T	ORAI1	Single nucleotide variant	Myopathy, tubular aggregate, 2 +1 more	GLikely benign
Select item 2087442	NC_000012.12:g.121627002G>C	LOC130008987, ORAI1 (K85N)	Single nucleotide variant	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance
Select item 2082528	NM_032790.4(ORAI1):c.53dup (p.Ser19Lysfs)	LOC130008987, ORAI1 (S19fs)	Duplication	Combined immunodeficiency due to ORAI1 deficiency +1 more	GUncertain significance
Select item 2069036	NC_000012.12:g.121641261C>T	ORAI1 (A175V)	Single nucleotide variant	Myopathy, tubular aggregate, 2 +1 more	GUncertain significance

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