ClinVar for Gene (Select 6097) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315051	NM_005060.4(RORC):c.677C>A (p.Pro226His)	RORC (P205H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3017344	NM_005060.4(RORC):c.180C>T (p.Arg60=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 3005228	NM_005060.4(RORC):c.70+11G>C	RORC	Single nucleotide variant (intron variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 2999807	NM_005060.4(RORC):c.489G>T (p.Ser163=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 2990134	NM_005060.4(RORC):c.1323G>A (p.Gln441=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 2915561	NM_005060.4(RORC):c.687T>C (p.Cys229=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 2910823	NM_005060.4(RORC):c.183T>C (p.Cys61=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 2899160	NM_005060.4(RORC):c.1017A>G (p.Ser339=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 2898715	NM_005060.4(RORC):c.157-20C>G	RORC	Single nucleotide variant (intron variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 2883223	NM_005060.4(RORC):c.442A>G (p.Thr148Ala)	RORC (T127A +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 2860649	NM_005060.4(RORC):c.682C>T (p.Arg228Ter)	RORC (R228* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GPathogenic
Select item 2857735	NM_005060.4(RORC):c.933+10G>A	RORC	Single nucleotide variant (intron variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 2852811	NM_005060.4(RORC):c.1479G>A (p.Val493=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 2833286	NM_005060.4(RORC):c.663C>T (p.Gly221=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 2825039	NM_005060.4(RORC):c.657C>T (p.Ser219=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 2819474	NM_005060.4(RORC):c.865C>T (p.Leu289=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 2806233	NM_005060.4(RORC):c.504G>A (p.Glu168=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 2803333	NM_005060.4(RORC):c.921C>T (p.Gly307=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 2796586	NM_005060.4(RORC):c.918T>C (p.Thr306=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 2784330	NM_005060.4(RORC):c.132G>T (p.Gly44=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 2753275	NM_005060.4(RORC):c.1209C>T (p.Phe403=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 2743111	NM_005060.4(RORC):c.606T>C (p.Leu202=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 2728521	NM_005060.4(RORC):c.1242G>A (p.Glu414=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 2722464	NM_005060.4(RORC):c.1151G>C (p.Gly384Ala)	RORC (G384A +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 2700416	NM_005060.4(RORC):c.298+14G>A	RORC	Single nucleotide variant (intron variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 2698592	NM_005060.4(RORC):c.165C>T (p.Phe55=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 2697193	NM_005060.4(RORC):c.292C>T (p.Arg98Ter)	RORC (R98* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GPathogenic
Select item 2688335	NM_005060.4(RORC):c.156+71_156+72insCACACACT	RORC	Microsatellite (intron variant)	not specified	GBenign
Select item 2688334	NM_005060.4(RORC):c.156+81_156+82insCACACACT	RORC	Microsatellite (intron variant)	not specified	GBenign
Select item 2688285	NM_005060.4(RORC):c.156+79_156+80insCACACACG	RORC	Microsatellite (intron variant)	not specified	GBenign
Select item 2688284	NM_005060.4(RORC):c.156+63CA[14]	RORC	Microsatellite (intron variant)	not specified	GBenign
Select item 2688254	NM_005060.4(RORC):c.156+73_156+74insCACACACT	RORC	Microsatellite (intron variant)	not specified	GBenign
Select item 2688208	NM_005060.4(RORC):c.156+62delinsACACACACA	RORC	Indel (intron variant)	not specified	GBenign
Select item 2688082	NM_005060.4(RORC):c.156+60G>A	RORC	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688076	NM_005060.4(RORC):c.156+62G>A	RORC	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2687924	NM_005060.4(RORC):c.156+61_156+62insCACACACA	RORC	Microsatellite (intron variant)	not specified	GBenign
Select item 2628210	NM_005060.4(RORC):c.1395+113T>G	RORC	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628199	NM_005060.4(RORC):c.40+537G>A	RORC	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628195	NM_005060.4(RORC):c.40+752C>A	RORC	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628172	NM_005060.4(RORC):c.1396-68G>A	RORC	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628168	NM_005060.4(RORC):c.70+3610C>T	RORC	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628121	NM_005060.4(RORC):c.40+437C>G	RORC	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2585221	NM_005060.4(RORC):c.1165C>T (p.Arg389Ter)	RORC (R368* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely pathogenic
Select item 2584604	NM_005060.4(RORC):c.821_933+84del	RORC	Deletion (splice donor variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2495477	NM_005060.4(RORC):c.776C>T (p.Thr259Ile)	RORC (T238I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470739	NM_005060.4(RORC):c.653A>T (p.Tyr218Phe)	RORC (Y197F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425291	NC_000001.10:g.(?_151801885)_(152287932_?)dup	C2CD4D, FLG +9 more	Duplication	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 2399317	NM_005060.4(RORC):c.881G>A (p.Arg294Gln)	RORC (R294Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340039	NM_005060.4(RORC):c.787C>A (p.Pro263Thr)	RORC (P263T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275924	NM_005060.4(RORC):c.923A>T (p.Tyr308Phe)	RORC (Y308F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2197893	NM_005060.4(RORC):c.811+18T>C	RORC	Single nucleotide variant (intron variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 2169528	NM_005060.4(RORC):c.718G>A (p.Gly240Arg)	RORC (G240R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 2169064	NM_005060.4(RORC):c.299-14T>C	RORC	Single nucleotide variant (intron variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 2167375	NM_005060.4(RORC):c.1120C>T (p.Arg374Cys)	RORC (R353C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 2166939	NM_005060.4(RORC):c.156+17dup	RORC	Duplication (intron variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 2163717	NM_005060.4(RORC):c.156+20A>C	RORC	Single nucleotide variant (intron variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 2159036	NM_005060.4(RORC):c.769C>T (p.Arg257Cys)	RORC (R236C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 2155663	NM_005060.4(RORC):c.370C>G (p.Gln124Glu)	RORC (Q103E +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 2154492	NM_005060.4(RORC):c.394C>A (p.Pro132Thr)	RORC (P132T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 2149782	NM_005060.4(RORC):c.855C>T (p.Cys285=)	RORC	Single nucleotide variant (synonymous variant)	RORC-related disorder +1 more	GLikely benign
Select item 2145707	NM_005060.4(RORC):c.662G>A (p.Gly221Asp)	RORC (G200D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 2143120	NM_005060.4(RORC):c.129C>T (p.Tyr43=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 2141551	NM_005060.4(RORC):c.1032C>T (p.Leu344=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 2135208	NM_005060.4(RORC):c.814C>T (p.His272Tyr)	RORC (H251Y +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 2124455	NM_005060.4(RORC):c.485C>T (p.Ser162Phe)	RORC (S141F +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 2117041	NM_005060.4(RORC):c.1531G>A (p.Glu511Lys)	RORC (E490K +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 2117017	NM_005060.4(RORC):c.1225G>A (p.Ala409Thr)	RORC (A388T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 2109100	NM_005060.4(RORC):c.73C>G (p.Gln25Glu)	RORC (Q25E +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 2090452	NM_005060.4(RORC):c.517C>T (p.Pro173Ser)	RORC (P152S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 2078757	NM_005060.4(RORC):c.494A>G (p.Asp165Gly)	RORC (D144G +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 2068508	NM_005060.4(RORC):c.354G>A (p.Val118=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 2063962	NM_005060.4(RORC):c.596C>T (p.Ser199Leu)	RORC (S178L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 2059294	NM_005060.4(RORC):c.1193G>C (p.Ser398Thr)	RORC (S398T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 2053961	NM_005060.4(RORC):c.965A>G (p.His322Arg)	RORC (H322R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 2041981	NM_005060.4(RORC):c.661G>A (p.Gly221Ser)	RORC (G200S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 2030641	NM_005060.4(RORC):c.30A>T (p.Arg10=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 2030209	NM_005060.4(RORC):c.1286-18T>A	RORC	Single nucleotide variant (intron variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 2028191	NM_005060.4(RORC):c.1174+9del	RORC	Deletion (intron variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 2019311	NM_005060.4(RORC):c.429A>G (p.Gly143=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 2007466	NM_005060.4(RORC):c.39G>T (p.Arg13=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 2003786	NM_005060.4(RORC):c.1396-20C>A	RORC	Single nucleotide variant (intron variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 2000136	NM_005060.4(RORC):c.803C>G (p.Thr268Arg)	RORC (T268R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 1998296	NM_005060.4(RORC):c.299-16C>T	RORC	Single nucleotide variant (intron variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 1995057	NM_005060.4(RORC):c.718G>C (p.Gly240Arg)	RORC (G240R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 1988368	NM_005060.4(RORC):c.313C>T (p.Arg105Cys)	RORC (R84C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 1984169	NM_005060.4(RORC):c.203C>T (p.Thr68Ile)	RORC (T68I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 1983770	NM_005060.4(RORC):c.1066+18G>A	RORC	Single nucleotide variant (intron variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 1970108	NM_005060.4(RORC):c.405G>A (p.Lys135=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 1966137	NM_005060.4(RORC):c.811+12G>A	RORC	Single nucleotide variant (intron variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 1961190	NM_005060.4(RORC):c.40+7G>A	RORC	Single nucleotide variant (intron variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 1959444	NM_005060.4(RORC):c.934-6C>T	RORC	Single nucleotide variant (intron variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 1959214	NM_005060.4(RORC):c.1174+15G>T	RORC	Single nucleotide variant (intron variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 1957776	NM_005060.4(RORC):c.498G>A (p.Leu166=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 1939057	NM_005060.4(RORC):c.1045C>A (p.Gln349Lys)	RORC (Q349K +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 1934333	NM_005060.4(RORC):c.1227C>T (p.Ala409=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 1929490	NM_005060.4(RORC):c.903C>G (p.Ser301=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 1929489	NM_005060.4(RORC):c.916A>T (p.Thr306Ser)	RORC (T306S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance

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