"Ambry Genetics"[submitter] AND "IFNAR1"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1410801	NM_000629.3(IFNAR1):c.28A>G (p.Thr10Ala)	IFNAR1, LOC119230225 (T10A)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2021058	NM_000629.3(IFNAR1):c.50C>T (p.Ala17Val)	IFNAR1, LOC119230225 (A17V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2234802	NM_000629.3(IFNAR1):c.128A>G (p.Asp43Gly)	IFNAR1 (D43G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1404568	NM_000629.3(IFNAR1):c.130A>C (p.Asn44His)	IFNAR1 (N44H)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1361002	NM_000629.3(IFNAR1):c.190G>T (p.Asp64Tyr)	IFNAR1 (D64Y)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3108279	NM_000629.3(IFNAR1):c.218G>C (p.Trp73Ser)	IFNAR1 (W4S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2535337	NM_000629.3(IFNAR1):c.272C>T (p.Ser91Leu)	IFNAR1 (S22L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1061428	NM_000629.3(IFNAR1):c.284A>G (p.Asn95Ser)	IFNAR1 (N26S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2542605	NM_000629.3(IFNAR1):c.299T>C (p.Ile100Thr)	IFNAR1 (I100T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1525850	NM_000629.3(IFNAR1):c.310A>G (p.Ile104Val)	IFNAR1 (I104V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3108280	NM_000629.3(IFNAR1):c.380A>C (p.Gln127Pro)	IFNAR1 (Q127P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542080	NM_000629.3(IFNAR1):c.392C>T (p.Pro131Leu)	IFNAR1 (P131L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108281	NM_000629.3(IFNAR1):c.470C>T (p.Ala157Val)	IFNAR1 (A3V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108282	NM_000629.3(IFNAR1):c.478G>A (p.Gly160Ser)	IFNAR1 (G6S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323740	NM_000629.3(IFNAR1):c.518C>G (p.Ser173Cys)	IFNAR1 (S104C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2477893	NM_000629.3(IFNAR1):c.548T>G (p.Ile183Ser)	IFNAR1 (I183S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283563	NM_000629.3(IFNAR1):c.560A>G (p.His187Arg)	IFNAR1 (H118R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1460571	NM_000629.3(IFNAR1):c.623C>T (p.Thr208Met)	IFNAR1 (T139M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3108283	NM_000629.3(IFNAR1):c.688C>T (p.Pro230Ser)	IFNAR1 (P161S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1417335	NM_000629.3(IFNAR1):c.731A>G (p.Tyr244Cys)	IFNAR1 (Y244C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2214149	NM_000629.3(IFNAR1):c.790G>A (p.Ala264Thr)	IFNAR1 (A195T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108284	NM_000629.3(IFNAR1):c.812G>A (p.Gly271Glu)	IFNAR1 (G117E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1371550	NM_000629.3(IFNAR1):c.866C>T (p.Thr289Ile)	IFNAR1 (T35I +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2388458	NM_000629.3(IFNAR1):c.889G>A (p.Val297Ile)	IFNAR1 (V143I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259128	NM_000629.3(IFNAR1):c.940A>G (p.Asn314Asp)	IFNAR1 (N314D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292655	NM_000629.3(IFNAR1):c.958G>A (p.Glu320Lys)	IFNAR1 (E315K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212953	NM_000629.3(IFNAR1):c.976A>G (p.Thr326Ala)	IFNAR1 (T321A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1379320	NM_000629.3(IFNAR1):c.1018A>G (p.Arg340Gly)	IFNAR1 (R186G +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3108278	NM_000629.3(IFNAR1):c.1046A>G (p.Tyr349Cys)	IFNAR1 (Y95C +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360879	NM_000629.3(IFNAR1):c.1089G>C (p.Gln363His)	IFNAR1 (Q209H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1408467	NM_000629.3(IFNAR1):c.1111A>G (p.Ile371Val)	IFNAR1 (I117V +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1473424	NM_000629.3(IFNAR1):c.1155C>G (p.Ile385Met)	IFNAR1 (I316M +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1010898	NM_000629.3(IFNAR1):c.1270G>A (p.Ala424Thr)	IFNAR1 (A170T +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1603755	NM_000629.3(IFNAR1):c.1353G>A (p.Pro451=)	IFNAR1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 2142353	NM_000629.3(IFNAR1):c.1370C>T (p.Ala457Val)	IFNAR1 (A303V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3285365	NM_000629.3(IFNAR1):c.1529C>T (p.Thr510Ile)	IFNAR1 (T256I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1400067	NM_000629.3(IFNAR1):c.1571A>C (p.His524Pro)	IFNAR1 (H519P +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2294512	NM_000629.3(IFNAR1):c.1611T>A (p.Asn537Lys)	IFNAR1 (N537K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 38