RORC[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 290

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 646625	NM_005060.4(RORC):c.1545G>T (p.Gly515=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 1028332	NM_005060.4(RORC):c.1535C>G (p.Ser512Ter)	RORC (S512* +1 more)	Single nucleotide variant (nonsense)	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 1170508	NM_005060.4(RORC):c.1530C>T (p.Thr510=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GBenign
Select item 1154072	NM_005060.4(RORC):c.1512G>A (p.Glu504=)	RORC	Single nucleotide variant (synonymous variant)	RORC-related disorder +1 more	GLikely benign
Select item 836560	NM_005060.4(RORC):c.1490C>T (p.Ala497Val)	RORC (A497V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 1924038	NM_005060.4(RORC):c.1489G>A (p.Ala497Thr)	RORC (A476T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 1039273	NM_005060.4(RORC):c.1488C>A (p.Ala496=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 744352	NM_005060.4(RORC):c.1488C>T (p.Ala496=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 1419943	NM_005060.4(RORC):c.1485A>G (p.Gln495=)	RORC	Single nucleotide variant (synonymous 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 252645	NM_005060.4(RORC):c.1477G>A (p.Val493Met)	RORC (V493M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency +1 more	GUncertain significance
Select item 1020582	NM_005060.4(RORC):c.1468C>T (p.His490Tyr)	RORC (H469Y +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 1895716	NM_005060.4(RORC):c.1464C>T (p.His488=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 640271	NM_005060.4(RORC):c.1456T>A (p.Phe486Ile)	RORC (F486I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 1443781	NM_005060.4(RORC):c.1447C>G (p.Leu483Val)	RORC (L462V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 1009678	NM_005060.4(RORC):c.1427G>C (p.Cys476Ser)	RORC (C455S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 1507227	NM_005060.4(RORC):c.1407G>C (p.Lys469Asn)	RORC (K469N +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 712886	NM_005060.4(RORC):c.1406A>G (p.Lys469Arg)	RORC (K448R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GBenign
Select item 1586311	NM_005060.4(RORC):c.1404C>G (p.Pro468=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 1093843	NM_005060.4(RORC):c.1401A>C (p.Pro467=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 1605965	NM_005060.4(RORC):c.1396-4C>G	RORC	Single nucleotide variant (intron variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 1620714	NM_005060.4(RORC):c.1396-8A>G	RORC	Single nucleotide variant (intron variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
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 2628172	NM_005060.4(RORC):c.1396-68G>A	RORC	Single nucleotide variant (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 1462532	NM_005060.4(RORC):c.1395+17G>A	RORC	Single nucleotide variant (intron variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 847733	NM_005060.4(RORC):c.1391C>T (p.Ala464Val)	RORC (A443V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 777933	NM_005060.4(RORC):c.1391C>G (p.Ala464Gly)	RORC (A464G +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GBenign
Select item 834693	NM_005060.4(RORC):c.1358A>T (p.His453Leu)	RORC (H432L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 855597	NM_005060.4(RORC):c.1356T>A (p.His452Gln)	RORC (H452Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 739599	NM_005060.4(RORC):c.1334A>G (p.Asn445Ser)	RORC (N445S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 722795	NM_005060.4(RORC):c.1329G>A (p.Gln443=)	RORC	Single nucleotide variant (synonymous variant)	RORC-related disorder +1 more	GLikely benign
Select item 663988	NM_005060.4(RORC):c.1328A>C (p.Gln443Pro)	RORC (Q422P +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
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 217447	NM_005060.4(RORC):c.1321C>T (p.Gln441Ter)	RORC (Q441* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GPathogenic
Select item 936652	NM_005060.4(RORC):c.1304A>G (p.Glu435Gly)	RORC (E414G +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 1060567	NM_005060.4(RORC):c.1288C>T (p.Arg430Trp)	RORC (R409W +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 1532796	NM_005060.4(RORC):c.1286-10C>G	RORC	Single nucleotide variant (intron variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 793933	NM_005060.4(RORC):c.1286-10C>T	RORC	Single nucleotide variant (intron variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 1623702	NM_005060.4(RORC):c.1286-11C>T	RORC	Single nucleotide variant (intron 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 1557943	NM_005060.4(RORC):c.1285+8T>A	RORC	Single nucleotide variant (intron variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 656474	NM_005060.4(RORC):c.1285C>T (p.His429Tyr)	RORC (H429Y +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 652941	NM_005060.4(RORC):c.1284C>A (p.Ala428=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 1381546	NM_005060.4(RORC):c.1267C>G (p.Leu423Val)	RORC (L402V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 1356237	NM_005060.4(RORC):c.1250T>C (p.Ile417Thr)	RORC (I417T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 542376	NM_005060.4(RORC):c.1247A>G (p.Glu416Gly)	RORC (E416G +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
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 738836	NM_005060.4(RORC):c.1239C>T (p.Ser413=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
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 1619144	NM_005060.4(RORC):c.1227C>G (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 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 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 1405773	NM_005060.4(RORC):c.1198A>G (p.Ile400Val)	RORC (I400V +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 1637843	NM_005060.4(RORC):c.1185G>A (p.Glu395=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 1538864	NM_005060.4(RORC):c.1175-5A>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 1626156	NM_005060.4(RORC):c.1174+15G>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 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 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 964849	NM_005060.4(RORC):c.1142A>T (p.Lys381Ile)	RORC (K360I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 1158570	NM_005060.4(RORC):c.1125G>T (p.Thr375=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 542378	NM_005060.4(RORC):c.1125G>A (p.Thr375=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 1372051	NM_005060.4(RORC):c.1124C>T (p.Thr375Met)	RORC (T375M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1426125	NM_005060.4(RORC):c.1121G>A (p.Arg374His)	RORC (R353H +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
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 864046	NM_005060.4(RORC):c.1118A>G (p.Asn373Ser)	RORC (N352S +1 more)	Single nucleotide variant (missense variant)	RORC-related disorder +1 more	GUncertain significance
Select item 1097057	NM_005060.4(RORC):c.1101G>A (p.Arg367=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 648974	NM_005060.4(RORC):c.1099C>G (p.Arg367Gly)	RORC (R346G +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 1900800	NM_005060.4(RORC):c.1098C>T (p.Cys366=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 1167416	NM_005060.4(RORC):c.1089T>C (p.Val363=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GBenign
Select item 749638	NM_005060.4(RORC):c.1086G>C (p.Leu362=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 542374	NM_005060.4(RORC):c.1070C>T (p.Ala357Val)	RORC (A357V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 741955	NM_005060.4(RORC):c.1067-4C>A	RORC	Single nucleotide variant (intron variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GBenign
Select item 1533406	NM_005060.4(RORC):c.1067-13C>T	RORC	Single nucleotide variant (intron variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
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 1393651	NM_005060.4(RORC):c.1062A>G (p.Lys354=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
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 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 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 1130993	NM_005060.4(RORC):c.1014C>T (p.Leu338=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 835360	NM_005060.4(RORC):c.1003G>T (p.Ala335Ser)	RORC (A335S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 1586889	NM_005060.4(RORC):c.1002C>T (p.Phe334=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 1423845	NM_005060.4(RORC):c.992T>C (p.Val331Ala)	RORC (V310A +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GUncertain significance
Select item 542379	NM_005060.4(RORC):c.990C>T (p.Tyr330=)	RORC	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 751344	NM_005060.4(RORC):c.987G>A (p.Gln329=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 217446	NM_005060.4(RORC):c.985C>T (p.Gln329Ter)	RORC (Q329* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GPathogenic
Select item 1664644	NM_005060.4(RORC):c.975C>T (p.Thr325=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
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 1168348	NM_005060.4(RORC):c.960T>C (p.Cys320=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GBenign
Select item 1131044	NM_005060.4(RORC):c.955C>A (p.Arg319=)	RORC	Single nucleotide variant (synonymous variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
Select item 1068314	NM_005060.4(RORC):c.934-1G>A	RORC	Single nucleotide variant (splice acceptor variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely pathogenic
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 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 1628366	NM_005060.4(RORC):c.933+13G>A	RORC	Single nucleotide variant (intron variant)	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	GLikely benign
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

<< First< Prev

Page of 3