ClinVar for MedGen (Select 2078) - ClinVar

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

Links from MedGen

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585350	NM_015967.8(PTPN22):c.1894+2T>C	AP4B1-AS1, PTPN22	Single nucleotide variant (splice donor variant)	Rheumatoid arthritis	GUncertain significance
Select item 2585349	NM_000246.4(CIITA):c.673G>A (p.Gly225Arg)	CIITA (G176R +4 more)	Single nucleotide variant (missense variant +1 more)	Rheumatoid arthritis	GUncertain significance
Select item 1413877	NM_000246.4(CIITA):c.2515C>G (p.Arg839Gly)	CIITA (R791G +4 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency +1 more	GUncertain significance
Select item 1410833	NM_000246.4(CIITA):c.631C>T (p.Pro211Ser)	CIITA (P162S +4 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency +1 more	GUncertain significance
Select item 992562	NM_000246.4(CIITA):c.2375A>T (p.Tyr792Phe)	CIITA (Y743F +4 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency +1 more	GUncertain significance
Select item 991982	NM_000246.4(CIITA):c.965C>T (p.Pro322Leu)	CIITA (P273L +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 990976	NM_000246.4(CIITA):c.174A>T (p.Gly58=)	CIITA	Single nucleotide variant (synonymous variant +1 more)	MHC class II deficiency +1 more	GUncertain significance
Select item 989911	NM_000246.4(CIITA):c.2831C>T (p.Ser944Leu)	CIITA (S360L +5 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency +1 more	GUncertain significance
Select item 989907	NM_000246.4(CIITA):c.2564C>T (p.Ala855Val)	CIITA (A806V +4 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency +1 more	GUncertain significance
Select item 983493	NM_003263.4(TLR1):c.1324T>C (p.Cys442Arg)	TLR1 (C442R)	Single nucleotide variant (missense variant)	Rheumatoid arthritis	GPathogenic
Select item 983492	NM_003263.4(TLR1):c.2036T>C (p.Ile679Thr)	TLR1 (I679T)	Single nucleotide variant (missense variant)	Rheumatoid arthritis	GPathogenic
Select item 983491	NM_005199.5(CHRNG):c.994C>T (p.Arg332Trp)	CHRNG (R332W)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 972895	NM_012387.3(PADI4):c.335G>C (p.Gly112Ala)	PADI4 (G112A)	Single nucleotide variant (missense variant)	PADI4-related condition	GBenign
Select item 972894	NM_012387.3(PADI4):c.349T>C (p.Leu117=)	PADI4	Single nucleotide variant (synonymous variant)	PADI4-related condition	GBenign
Select item 972893	NM_012387.3(PADI4):c.245T>C (p.Val82Ala)	PADI4 (V82A)	Single nucleotide variant (missense variant)	PADI4-related condition	GBenign
Select item 972892	NM_012387.3(PADI4):c.163G>A (p.Gly55Ser)	PADI4 (G55S)	Single nucleotide variant (missense variant)	PADI4-related condition	GBenign
Select item 972891	NM_007365.3(PADI2):c.92+1006C>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 972889	NM_007365.3(PADI2):c.1159-39G>A	PADI2	Single nucleotide variant (intron variant)	Rheumatoid arthritis +1 more	Gassociation
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 972518	NM_000246.4(CIITA):c.1939C>T (p.Arg647Cys)	CIITA (R624C +4 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency +1 more	GUncertain significance
Select item 971840	NM_000246.4(CIITA):c.3197G>A (p.Arg1066His)	CIITA (R1017H +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 958250	NM_000246.4(CIITA):c.2113G>A (p.Glu705Lys)	CIITA (E656K +4 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency +1 more	GUncertain significance
Select item 934511	NM_000246.4(CIITA):c.2113G>C (p.Glu705Gln)	CIITA (E657Q +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 887591	NM_000246.4(CIITA):c.358+11G>A	CIITA	Single nucleotide variant (intron variant)	MHC class II deficiency +1 more	GBenign
Select item 827997	NM_000246.4(CIITA):c.2817-8C>G	CIITA	Single nucleotide variant (intron variant)	Rheumatoid arthritis +1 more	GConflicting classifications of pathogenicity
Select item 801021	Multiple alleles	SOCS1	Single nucleotide variant	Rheumatoid arthritis	GAffects
Select item 625921	NM_000246.4(CIITA):c.931A>G (p.Met311Val)	CIITA (M311V +4 more)	Single nucleotide variant (missense variant +1 more)	Rheumatoid arthritis +2 more	GConflicting classifications of pathogenicity
Select item 625919	NM_000246.4(CIITA):c.929A>T (p.Asn310Ile)	CIITA (N310I +4 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency +1 more	GUncertain significance
Select item 598994	NM_000246.4(CIITA):c.3344G>A (p.Ser1115Asn)	CIITA (S1115N +5 more)	Single nucleotide variant (missense variant +1 more)	Rheumatoid arthritis +5 more	GUncertain significance
Select item 590889	NC_000001.11:g.17157671G>T	PADI4	Single nucleotide variant	Rheumatoid arthritis	Gassociation
Select item 590790	NM_012387.3(PADI4):c.341-15T>C	PADI4	Single nucleotide variant (intron variant)	Rheumatoid arthritis	Gassociation
Select item 575798	NM_000246.4(CIITA):c.1556C>T (p.Pro519Leu)	CIITA (P519L +4 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency +1 more	GUncertain significance
Select item 571291	NM_000246.4(CIITA):c.307C>A (p.Gln103Lys)	CIITA (Q103K +1 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency +1 more	GUncertain significance
Select item 571174	NM_000246.4(CIITA):c.3217T>A (p.Ser1073Thr)	CIITA (S1073T +5 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency +1 more	GUncertain significance
Select item 569422	NM_000246.4(CIITA):c.413T>C (p.Val138Ala)	CIITA (V138A +2 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency +1 more	GUncertain significance
Select item 565291	NM_001014286.3(SUPT20H):c.73A>T (p.Lys25Ter)	SUPT20H (K25*)	Single nucleotide variant (nonsense)	Rheumatoid arthritis	Grisk factor
Select item 528783	NM_000246.4(CIITA):c.286G>A (p.Ala96Thr)	CIITA (A96T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 528781	NM_000246.4(CIITA):c.170C>A (p.Ala57Asp)	CIITA (A57D +1 more)	Single nucleotide variant (missense variant +1 more)	MHC class II deficiency +1 more	GConflicting classifications of pathogenicity
Select item 456662	NM_000572.3(IL10):c.43G>A (p.Gly15Arg)	IL10, IL19 +1 more (G15R)	Single nucleotide variant (missense variant +2 more)	Rheumatoid arthritis +4 more	GConflicting classifications of pathogenicity
Select item 317738	NM_000246.4(CIITA):c.*465G>A	CIITA	Single nucleotide variant (3 prime UTR variant +2 more)	Rheumatoid arthritis +1 more	GUncertain significance
Select item 317729	NM_000246.4(CIITA):c.*125C>T	CIITA	Single nucleotide variant (3 prime UTR variant +2 more)	Rheumatoid arthritis +1 more	GUncertain significance
Select item 317716	NM_000246.4(CIITA):c.2651G>A (p.Arg884His)	CIITA (R884H +4 more)	Single nucleotide variant (missense variant +1 more)	Rheumatoid arthritis +1 more	GUncertain significance
Select item 317704	NM_000246.4(CIITA):c.2096C>T (p.Pro699Leu)	CIITA (P699L +4 more)	Single nucleotide variant (missense variant +1 more)	Rheumatoid arthritis +1 more	GUncertain significance
Select item 9546	NM_000246.3(CIITA):c.-286G=	CIITA	Single nucleotide variant (genic upstream transcript variant)	Rheumatoid arthritis	Grisk factor
Select item 8909	NM_015967.8(PTPN22):c.1858= (p.Trp620=)	AP4B1-AS1, PTPN22 (R620W +2 more)	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 8475	NM_001144962.2(NFKBIL1):c.-13+590T>A	NFKBIL1	Single nucleotide variant (intron variant)	Rheumatoid arthritis	Grisk factor
Select item 5749	NM_003059.3(SLC22A4):c.393+6607C>T	SLC22A4	Single nucleotide variant (intron variant)	Rheumatoid arthritis	Grisk factor
Select item 4895	NM_016382.4(CD244):c.834+526A>G	CD244	Single nucleotide variant (intron variant)	Rheumatoid arthritis	Grisk factor
Select item 3396	NM_001098629.3(IRF5):c.-12+198=	IRF5	Single nucleotide variant (intron variant +1 more)	Systemic lupus erythematosus, susceptibility to, 10 +1 more	GPathogenic; risk factor

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 50