ClinVar for MedGen (Select 332156) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2500018	NM_000634.3(CXCR1):c.838C>T (p.Arg280Cys)	CXCR1 (R280C)	Single nucleotide variant (missense variant)	Susceptibility to HIV infection	GUncertain significance
Select item 992556	NM_001394783.1(CCR5):c.187A>T (p.Ser63Cys)	CCR5, CCR5AS (S63C)	Single nucleotide variant (missense variant)	Hepatitis C virus, susceptibility to +3 more	GUncertain significance
Select item 992524	NM_000634.3(CXCR1):c.3G>A (p.Met1Ile)	CXCR1 (M1I)	Single nucleotide variant (missense variant +1 more)	Susceptibility to HIV infection	GUncertain significance
Select item 992523	NM_001171174.1(CX3CR1):c.10C>G (p.Pro4Ala)	CX3CR1 (P4A)	Single nucleotide variant (missense variant)	Coronary heart disease, susceptibility to, 1 +3 more	GConflicting classifications of pathogenicity
Select item 827982	NM_000418.4(IL4R):c.1774G>T (p.Val592Leu)	IL4R (V432L +2 more)	Single nucleotide variant (missense variant)	IgE responsiveness, atopic +1 more	GUncertain significance
Select item 827974	NM_021155.4(CD209):c.566A>T (p.Gln189Leu)	CD209 (Q145L +2 more)	Single nucleotide variant (missense variant +2 more)	Dengue virus, susceptibility to +2 more	GUncertain significance
Select item 626118	NM_000418.4(IL4R):c.1160C>T (p.Ser387Leu)	IL4R (S387L +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 625927	NM_000634.3(CXCR1):c.608G>A (p.Arg203Gln)	CXCR1 (R203Q)	Single nucleotide variant (missense variant)	Susceptibility to HIV infection	GUncertain significance
Select item 625926	NM_199168.4(CXCL12):c.*2C>T	CXCL12	Single nucleotide variant (3 prime UTR variant +1 more)	Susceptibility to HIV infection	GUncertain significance
Select item 625909	NM_021155.4(CD209):c.642G>C (p.Glu214Asp)	CD209 (E214D +2 more)	Single nucleotide variant (missense variant +2 more)	CD209-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 625907	NM_001123396.4(CCR2):c.1043C>T (p.Thr348Met)	CCR2 (T348M)	Single nucleotide variant (missense variant +1 more)	Susceptibility to HIV infection	GUncertain significance
Select item 625906	NM_001123396.4(CCR2):c.*1179G>A	CCR2 (D352N)	Single nucleotide variant (missense variant +1 more)	Susceptibility to HIV infection	GUncertain significance
Select item 570922	NM_003265.3(TLR3):c.554C>T (p.Ala185Val)	TLR3 (A185V)	Single nucleotide variant (missense variant)	Immunodeficiency 83, susceptibility to viral infections +2 more	GUncertain significance
Select item 569628	NM_003265.3(TLR3):c.176C>A (p.Thr59Asn)	TLR3 (T59N)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1 +2 more	GUncertain significance
Select item 456662	NM_000572.3(IL10):c.43G>A (p.Gly15Arg)	IL10, IL19 +1 more (G15R)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 41472	NM_003265.3(TLR3):c.1234C>T (p.Leu412Phe)	TLR3 (L412F)	Single nucleotide variant (missense variant)	Herpes simplex encephalitis, susceptibility to, 1 +5 more	GBenign/Likely benign
Select item 16873	NM_153758.5(IL19):c.-149+1984T>G	IL10, IL19	Single nucleotide variant (intron variant)	Inflammatory bowel disease	GBenign
Select item 14206	NM_002982.4(CCL2):c.77-109=	CCL2	Single nucleotide variant (intron variant)	Susceptibility to HIV infection	Gprotective
Select item 14205	NC_000017.11:g.34253212=	CCL2	Single nucleotide variant	Susceptibility to HIV infection	Gprotective
Select item 8762	NM_199168.4(CXCL12):c.*531G>A	CXCL12	Single nucleotide variant (3 prime UTR variant +1 more)	Susceptibility to HIV infection	Gprotective
Select item 8367	NC_000017.11:g.34284427=	CCL11	Single nucleotide variant	Susceptibility to HIV infection	Gprotective
Select item 8267	NM_001123396.4(CCR2):c.190G>A (p.Val64Ile)	CCR2 (V64I)	Single nucleotide variant (missense variant)	CCR2-related disorder	GBenign
Select item 8191	NM_001394783.1(CCR5):c.180G>T (p.Arg60Ser)	CCR5, CCR5AS (R60S)	Single nucleotide variant (missense variant)	Susceptibility to HIV infection	Gprotective
Select item 8189	NM_000579.4(CCR5):c.-301+246A>G	CCR5, CCR5AS	Single nucleotide variant (intron variant)	CCR5-related disorder	GBenign
Select item 8188	NM_001394783.1(CCR5):c.303T>A (p.Cys101Ter)	CCR5AS, CCR5 (C101*)	Single nucleotide variant (nonsense)	Susceptibility to HIV infection	Gprotective
Select item 8184	NM_001394783.1(CCR5):c.554_585del (p.Ser185fs)	CCR5, CCR5AS (S185fs)	Deletion (frameshift variant)	CCR5-related disorder +1 more	GBenign
Select item 6662	NM_003265.3(TLR3):c.1660C>T (p.Pro554Ser)	TLR3 (P554S)	Single nucleotide variant (missense variant)	Susceptibility to HIV infection +3 more	GUncertain significance
Select item 5408	NC_000019.10:g.7747847A>G	CD209, LOC117307477	Single nucleotide variant	Mycobacterium tuberculosis, susceptibility to +2 more	Gprotective; risk factor

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Items: 28