HLA-DRA1 - ClinVar - NCBI

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The following term was not found in ClinVar: DRA1.

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1048802	NM_001066.3(TNFRSF1B):c.587T>G (p.Met196Arg)	TNFRSF1B (M196R)	Single nucleotide variant (missense variant)	Susceptibility to severe coronavirus disease (COVID-19) due to high plasma levels of TNF, TNFR, and/or TNFR2 +2 more	GUncertain significance
Select item 1048803	NM_001066.3(TNFRSF1B):c.*215C>T	TNFRSF1B	Single nucleotide variant (3 prime UTR variant)	Susceptibility to severe coronavirus disease (COVID-19) due to high plasma levels of TNF, TNFR, and/or TNFR3 +2 more	GUncertain significance
Select item 972888	NM_007365.3(PADI2):c.*258A>T	PADI2	Single nucleotide variant (3 prime UTR variant)	Rheumatoid arthritis +1 more	Gassociation
Select item 972889	NM_007365.3(PADI2):c.1159-39G>A	PADI2	Single nucleotide variant (intron variant)	Rheumatoid arthritis +1 more	Gassociation
Select item 972890	NM_007365.3(PADI2):c.729T>G (p.Gly243=)	PADI2	Single nucleotide variant (synonymous variant)	Rheumatoid arthritis +1 more	Gassociation
Select item 972891	NM_007365.3(PADI2):c.92+1006C>A	PADI2	Single nucleotide variant (intron variant)	Rheumatoid arthritis +1 more	Gassociation
Select item 972892	NM_012387.3(PADI4):c.163G>A (p.Gly55Ser)	PADI4 (G55S)	Single nucleotide variant (missense variant)	PADI4-related disorder	GBenign
Select item 972893	NM_012387.3(PADI4):c.245T>C (p.Val82Ala)	PADI4 (V82A)	Single nucleotide variant (missense variant)	PADI4-related disorder	GBenign
Select item 972895	NM_012387.3(PADI4):c.335G>C (p.Gly112Ala)	PADI4 (G112A)	Single nucleotide variant (missense variant)	PADI4-related disorder	GBenign
Select item 972894	NM_012387.3(PADI4):c.349T>C (p.Leu117=)	PADI4	Single nucleotide variant (synonymous variant)	PADI4-related disorder	GBenign
Select item 1693613	NM_001099772.2(CYP4B1):c.*437T>C	CYP4B1	Single nucleotide variant (3 prime UTR variant +1 more)	Pulmonary disease, chronic obstructive, susceptibility to	Gassociation
Select item 1693612	NM_178134.3(CYP4Z1):c.1068-409G>A	CYP4A22-AS1, CYP4Z1	Single nucleotide variant (intron variant)	Pulmonary disease, chronic obstructive, susceptibility to	Gassociation
Select item 1693611	NM_001010969.4(CYP4A22):c.691T>C (p.Cys231Arg)	CYP4A22, CYP4A22-AS1 (C231R)	Single nucleotide variant (missense variant +1 more)	Pulmonary disease, chronic obstructive, susceptibility to	Gassociation
Select item 1693587	NM_000775.4(CYP2J2):c.148C>T (p.Leu50=)	CYP2J2	Single nucleotide variant (non-coding transcript variant +1 more)	Pulmonary disease, chronic obstructive, susceptibility to	Gassociation
Select item 8739	NM_005263.5(GFI1):c.1145A>G (p.Asn382Ser)	GFI1, LOC129930930 (N382S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 635267	NM_000110.4(DPYD):c.2983G>T (p.Val995Phe)	DPYD (V995F)	Single nucleotide variant (missense variant)	fluorouracil response - Other	Gdrug response
Select item 88974	NM_000110.4(DPYD):c.2846A>T (p.Asp949Val)	DPYD (D949V)	Single nucleotide variant (missense variant)	fluorouracil response - Other +3 more	Gdrug response
Select item 287480	NM_000110.4(DPYD):c.2303C>A (p.Thr768Lys)	DPYD-AS1, DPYD (T768K)	Single nucleotide variant (missense variant)	fluorouracil response - Other	Gdrug response
Select item 100080	NM_000110.4(DPYD):c.2194G>A (p.Val732Ile)	DPYD, DPYD-AS1 (V732I)	Single nucleotide variant (missense variant)	fluorouracil response - Other +2 more	Gdrug response
Select item 432	NM_000110.4(DPYD):c.1905+1G>A	DPYD	Single nucleotide variant (splice donor variant)	fluorouracil response - Toxicity +3 more	Gdrug response
Select item 635266	NM_000110.4(DPYD):c.1898del (p.Pro633fs)	DPYD (P633fs)	Deletion (frameshift variant)	fluorouracil response - Other	Gdrug response
Select item 100088	NM_000110.4(DPYD):c.1896T>C (p.Phe632=)	DPYD	Single nucleotide variant (synonymous variant)	fluorouracil response - Toxicity +1 more	Gdrug response
Select item 282919	NM_000110.4(DPYD):c.1774C>T (p.Arg592Trp)	DPYD (R592W)	Single nucleotide variant (missense variant)	fluorouracil response - Other +1 more	Gdrug response
Select item 88975	NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser)	DPYD (I560S)	Single nucleotide variant (missense variant)	fluorouracil response - Other +3 more	Gdrug response
Select item 100092	NM_000110.4(DPYD):c.1627A>G (p.Ile543Val)	DPYD (I543V)	Single nucleotide variant (missense variant)	capecitabine response - Toxicity +1 more	Gdrug response
Select item 100094	NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn)	DPYD (S534N)	Single nucleotide variant (missense variant)	capecitabine response - Toxicity +1 more	Gdrug response
Select item 1327419	NM_000110.4(DPYD):c.1543G>A (p.Val515Ile)	DPYD (V515I)	Single nucleotide variant (missense variant)	fluorouracil response - Other	Gdrug response
Select item 100100	NM_000110.4(DPYD):c.1236G>A (p.Glu412=)	DPYD	Single nucleotide variant (synonymous variant)	fluorouracil response - Toxicity +1 more	Gdrug response
Select item 1032887	NM_000110.4(DPYD):c.1156G>T (p.Glu386Ter)	DPYD (E386*)	Single nucleotide variant (nonsense)	fluorouracil response - Other +1 more	Gdrug response
Select item 635263	NM_000110.4(DPYD):c.1129-5923C>G	DPYD	Single nucleotide variant (intron variant)	fluorouracil response - Other +2 more	Gdrug response
Select item 1327416	NM_000110.4(DPYD):c.1003G>T (p.Val335Leu)	DPYD (V335L)	Single nucleotide variant (missense variant)	fluorouracil response - Other	Gdrug response
Select item 298300	NM_000110.4(DPYD):c.703C>T (p.Arg235Trp)	DPYD (R235W)	Single nucleotide variant (missense variant)	fluorouracil response - Other	Gdrug response
Select item 100113	NM_000110.4(DPYD):c.557A>G (p.Tyr186Cys)	DPYD (Y186C)	Single nucleotide variant (missense variant)	fluorouracil response - Other +1 more	Gdrug response
Select item 100116	NM_000110.4(DPYD):c.496A>G (p.Met166Val)	DPYD (M166V)	Single nucleotide variant (missense variant)	capecitabine response - Toxicity +1 more	Gdrug response
Select item 435	NM_000110.4(DPYD):c.85T>C (p.Cys29Arg)	DPYD (C29R)	Single nucleotide variant (missense variant)	fluorouracil response - Toxicity +1 more	Gdrug response
Select item 8909	NM_015967.8(PTPN22):c.1858= (p.Trp620=)	PTPN22, AP4B1-AS1 (R620W +2 more)	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 292592	NM_001025603.2(RFX5):c.1520_1521insATT	RFX5	Insertion (3 prime UTR variant)	MHC class II deficiency	GUncertain significance
Select item 876506	NM_001025603.2(RFX5):c.*1426A>G	RFX5	Single nucleotide variant (3 prime UTR variant)	MHC class II deficiency	GUncertain significance
Select item 876507	NM_001025603.2(RFX5):c.*1413A>C	RFX5	Single nucleotide variant (3 prime UTR variant)	MHC class II deficiency	GLikely benign
Select item 292593	NM_001025603.2(RFX5):c.*1330C>T	RFX5	Single nucleotide variant (3 prime UTR variant)	MHC class II deficiency	GUncertain significance
Select item 292594	NM_001025603.2(RFX5):c.*1252C>G	RFX5	Single nucleotide variant (3 prime UTR variant)	MHC class II deficiency	GUncertain significance
Select item 292595	NM_001025603.2(RFX5):c.*1177C>T	RFX5	Single nucleotide variant (3 prime UTR variant)	MHC class II deficiency	GUncertain significance
Select item 873612	NM_001025603.2(RFX5):c.*1166A>G	RFX5	Single nucleotide variant (3 prime UTR variant)	MHC class II deficiency	GUncertain significance
Select item 873613	NM_001025603.2(RFX5):c.*1158G>A	RFX5	Single nucleotide variant (3 prime UTR variant)	MHC class II deficiency	GUncertain significance
Select item 292596	NM_001025603.2(RFX5):c.*1118A>G	RFX5	Single nucleotide variant (3 prime UTR variant)	MHC class II deficiency	GUncertain significance
Select item 292597	NM_001025603.2(RFX5):c.*1084A>C	RFX5	Single nucleotide variant (3 prime UTR variant)	MHC class II deficiency	GBenign
Select item 292598	NM_001025603.2(RFX5):c.*1078C>T	RFX5	Single nucleotide variant (3 prime UTR variant)	MHC class II deficiency	GUncertain significance
Select item 292599	NM_001025603.2(RFX5):c.*985del	RFX5	Deletion (3 prime UTR variant)	MHC class II deficiency	GUncertain significance
Select item 292600	NM_001025603.2(RFX5):c.*888T>C	RFX5	Single nucleotide variant (3 prime UTR variant)	MHC class II deficiency	GBenign
Select item 873614	NM_001025603.2(RFX5):c.*881C>T	RFX5	Single nucleotide variant (3 prime UTR variant)	MHC class II deficiency	GUncertain significance
Select item 292601	NM_001025603.2(RFX5):c.*838A>G	RFX5	Single nucleotide variant (3 prime UTR variant)	MHC class II deficiency	GUncertain significance
Select item 874613	NM_001025603.2(RFX5):c.*761A>T	RFX5	Single nucleotide variant (3 prime UTR variant)	MHC class II deficiency	GUncertain significance
Select item 874614	NM_001025603.2(RFX5):c.*721G>T	RFX5	Single nucleotide variant (3 prime UTR variant)	MHC class II deficiency	GUncertain significance
Select item 292602	NM_001025603.2(RFX5):c.*694del	RFX5	Deletion (3 prime UTR variant)	MHC class II deficiency	GUncertain significance
Select item 874615	NM_001025603.2(RFX5):c.*661T>C	RFX5	Single nucleotide variant (3 prime UTR variant)	MHC class II deficiency	GUncertain significance
Select item 292603	NM_001025603.2(RFX5):c.*373G>T	RFX5	Single nucleotide variant (3 prime UTR variant)	MHC class II deficiency	GUncertain significance
Select item 292604	NM_001025603.2(RFX5):c.*364A>C	RFX5	Single nucleotide variant (3 prime UTR variant)	MHC class II deficiency	GUncertain significance
Select item 292605	NM_001025603.2(RFX5):c.*283A>G	RFX5	Single nucleotide variant (3 prime UTR variant)	MHC class II deficiency	GBenign
Select item 292606	NM_001025603.2(RFX5):c.*244A>G	RFX5	Single nucleotide variant (3 prime UTR variant)	MHC class II deficiency	GBenign
Select item 292607	NM_001025603.2(RFX5):c.*224T>C	RFX5	Single nucleotide variant (3 prime UTR variant)	MHC class II deficiency	GUncertain significance
Select item 875541	NM_001025603.2(RFX5):c.*29T>G	RFX5	Single nucleotide variant (3 prime UTR variant)	MHC class II deficiency	GUncertain significance
Select item 1435728	NM_001025603.2(RFX5):c.1849del (p.Ter617AspextTer?)	RFX5	Deletion (frameshift variant +1 more)	MHC class II deficiency	GUncertain significance
Select item 1964813	NM_001025603.2(RFX5):c.1847C>T (p.Pro616Leu)	RFX5 (P576L +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 567382	NM_001025603.2(RFX5):c.1838del (p.Ala613fs)	RFX5 (A613fs +1 more)	Deletion (frameshift variant)	MHC class II deficiency	GUncertain significance
Select item 715377	NM_001025603.2(RFX5):c.1830C>G (p.Asp610Glu)	RFX5 (D610E +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1475428	NM_001025603.2(RFX5):c.1823A>G (p.His608Arg)	RFX5 (H568R +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 1038601	NM_001025603.2(RFX5):c.1816C>T (p.Gln606Ter)	RFX5 (Q566* +1 more)	Single nucleotide variant (nonsense)	MHC class II deficiency	GUncertain significance
Select item 1105008	NM_001025603.2(RFX5):c.1809C>A (p.Ser603=)	RFX5	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 573595	NM_001025603.2(RFX5):c.1805G>A (p.Ser602Asn)	RFX5 (S602N +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 875542	NM_001025603.2(RFX5):c.1797G>A (p.Val599=)	RFX5	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GConflicting classifications of pathogenicity
Select item 2881208	NM_001025603.2(RFX5):c.1783T>C (p.Leu595=)	RFX5	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 1058936	NM_001025603.2(RFX5):c.1779del (p.Asp594fs)	RFX5 (D554fs +1 more)	Deletion (frameshift variant)	MHC class II deficiency	GUncertain significance
Select item 1042868	NM_001025603.2(RFX5):c.1775A>G (p.Asn592Ser)	RFX5 (N552S +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 1420479	NM_001025603.2(RFX5):c.1771G>A (p.Gly591Ser)	RFX5 (G551S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1047831	NM_001025603.2(RFX5):c.1768del (p.Gln590fs)	RFX5 (Q590fs +1 more)	Deletion (frameshift variant)	MHC class II deficiency	GUncertain significance
Select item 992517	NM_001025603.2(RFX5):c.1759A>T (p.Thr587Ser)	RFX5 (T547S +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 2974397	NM_001025603.2(RFX5):c.1754T>G (p.Val585Gly)	RFX5 (V545G +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 1428294	NM_001025603.2(RFX5):c.1748G>A (p.Gly583Glu)	RFX5 (G583E +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 292608	NM_001025603.2(RFX5):c.1746G>C (p.Lys582Asn)	RFX5 (K582N +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 2000709	NM_001025603.2(RFX5):c.1744A>G (p.Lys582Glu)	RFX5 (K582E +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 2127385	NM_001025603.2(RFX5):c.1715G>A (p.Arg572Lys)	RFX5 (R572K +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 1461138	NM_001025603.2(RFX5):c.1706dup (p.Ser571fs)	RFX5 (S571fs +1 more)	Duplication (frameshift variant)	MHC class II deficiency	GLikely pathogenic
Select item 3022717	NM_001025603.2(RFX5):c.1697G>A (p.Ser566Asn)	RFX5 (S526N +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 860431	NM_001025603.2(RFX5):c.1690A>G (p.Lys564Glu)	RFX5 (K564E +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 578282	NM_001025603.2(RFX5):c.1688C>T (p.Ser563Leu)	RFX5 (S563L +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 1715774	NM_001025603.2(RFX5):c.1685C>T (p.Pro562Leu)	RFX5 (P522L +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 838606	NM_001025603.2(RFX5):c.1673T>C (p.Ile558Thr)	RFX5 (I558T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 292609	NM_001025603.2(RFX5):c.1661_1663del (p.Ala554del)	RFX5 (A554del +1 more)	Deletion (inframe_deletion)	MHC class II deficiency	GUncertain significance
Select item 2048584	NM_001025603.2(RFX5):c.1651A>G (p.Thr551Ala)	RFX5 (T511A +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1359964	NM_001025603.2(RFX5):c.1648C>G (p.His550Asp)	RFX5 (H550D +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 577099	NM_001025603.2(RFX5):c.1639G>A (p.Gly547Ser)	RFX5 (G547S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1101422	NM_001025603.2(RFX5):c.1638C>T (p.Pro546=)	RFX5	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 1084568	NM_001025603.2(RFX5):c.1630A>C (p.Arg544=)	RFX5	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 1448411	NM_001025603.2(RFX5):c.1614T>C (p.Thr538=)	RFX5	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign
Select item 632083	NM_001025603.2(RFX5):c.1604dup (p.Asp536fs)	RFX5 (D536fs +1 more)	Duplication (frameshift variant)	MHC class II deficiency	GUncertain significance
Select item 948575	NM_001025603.2(RFX5):c.1578_1594dup (p.Gln532fs)	RFX5 (Q492fs +1 more)	Duplication (frameshift variant)	MHC class II deficiency	GPathogenic
Select item 942413	NM_001025603.2(RFX5):c.1588C>G (p.Leu530Val)	RFX5 (L490V +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 1964239	NM_001025603.2(RFX5):c.1582G>C (p.Ala528Pro)	RFX5 (A488P +1 more)	Single nucleotide variant (missense variant)	MHC class II deficiency	GUncertain significance
Select item 732028	NM_001025603.2(RFX5):c.1569G>A (p.Glu523=)	RFX5	Single nucleotide variant (synonymous variant)	MHC class II deficiency +1 more	GBenign/Likely benign
Select item 1091083	NM_001025603.2(RFX5):c.1545A>G (p.Ala515=)	RFX5	Single nucleotide variant (synonymous variant)	MHC class II deficiency	GLikely benign

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