IFIT3[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152652	GRCh38/hg38 10q23.31(chr10:89095288-89633544)x3	CH25H, IFIT1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 2224075	NM_001549.6(IFIT3):c.6T>G (p.Ser2Arg)	IFIT3 (S2R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204717	NM_001549.6(IFIT3):c.82G>C (p.Asp28His)	IFIT3 (D28H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618854	NM_001549.6(IFIT3):c.126T>G (p.Ile42Met)	IFIT3 (I42M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208330	NM_001549.6(IFIT3):c.165C>A (p.Asn55Lys)	IFIT3 (N55K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521312	NM_001549.6(IFIT3):c.202G>A (p.Glu68Lys)	IFIT3 (E16K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108191	NM_001549.6(IFIT3):c.250G>A (p.Glu84Lys)	IFIT3 (E32K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336265	NM_001549.6(IFIT3):c.292G>A (p.Gly98Arg)	IFIT3 (G98R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317809	NM_001549.6(IFIT3):c.322G>A (p.Gly108Ser)	IFIT3 (G108S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209266	NM_001549.6(IFIT3):c.464C>T (p.Ala155Val)	IFIT3 (A103V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285328	NM_001549.6(IFIT3):c.546T>G (p.His182Gln)	IFIT3 (H182Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108192	NM_001549.6(IFIT3):c.616A>G (p.Asn206Asp)	IFIT3 (N154D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108193	NM_001549.6(IFIT3):c.622T>C (p.Tyr208His)	IFIT3 (Y156H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603461	NM_001549.6(IFIT3):c.650T>C (p.Leu217Pro)	IFIT3 (L165P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285327	NM_001549.6(IFIT3):c.734G>A (p.Arg245His)	IFIT3 (R245H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617904	NM_001549.6(IFIT3):c.784G>A (p.Glu262Lys)	IFIT3 (E210K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391323	NM_001549.6(IFIT3):c.796C>T (p.Arg266Trp)	IFIT3 (R266W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380731	NM_001549.6(IFIT3):c.797G>A (p.Arg266Gln)	IFIT3 (R214Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321000	NM_001549.6(IFIT3):c.797G>C (p.Arg266Pro)	IFIT3 (R214P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285330	NM_001549.6(IFIT3):c.962C>A (p.Ala321Asp)	IFIT3 (A321D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463076	NM_001549.6(IFIT3):c.1006G>A (p.Ala336Thr)	IFIT3 (A336T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2589329	NM_001549.6(IFIT3):c.1016T>C (p.Leu339Pro)	IFIT3 (L287P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285329	NM_001549.6(IFIT3):c.1022C>T (p.Thr341Met)	IFIT3 (T341M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3026797	NM_001549.6(IFIT3):c.1040C>A (p.Pro347Gln)	IFIT3 (P295Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 787590	NM_001549.6(IFIT3):c.1054G>C (p.Val352Leu)	IFIT3 (V300L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3108188	NM_001549.6(IFIT3):c.1087C>T (p.Arg363Cys)	IFIT3 (R311C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336342	NM_001549.6(IFIT3):c.1119G>T (p.Lys373Asn)	IFIT3 (K321N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377806	NM_001549.6(IFIT3):c.1172A>G (p.Lys391Arg)	IFIT3 (K339R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108189	NM_001549.6(IFIT3):c.1193T>C (p.Ile398Thr)	IFIT3 (I346T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781791	NM_001549.6(IFIT3):c.1225C>T (p.Leu409=)	IFIT3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3108190	NM_001549.6(IFIT3):c.1292T>C (p.Leu431Pro)	IFIT3 (L431P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390076	NM_001549.6(IFIT3):c.1351T>C (p.Ser451Pro)	IFIT3 (S451P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269167	NM_001549.6(IFIT3):c.1387C>T (p.Leu463Phe)	IFIT3 (L411F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244832	NC_000010.10:g.(?_90332640)_(91222335_?)dup	LIPM, LIPN +17 more	Duplication	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 3063146	GRCh37/hg19 10q23.31-23.32(chr10:89950990-92959893)x3	ACTA2, ANKRD1 +24 more	Copy number gain	not specified	GUncertain significance
Select item 3063140	GRCh37/hg19 10q23.2-23.32(chr10:88121043-93641582)x1	ACTA2, ADIRF +46 more	Copy number loss	not specified	GPathogenic
Select item 3063132	GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1	ACSM6, ALDH18A1 +83 more	Copy number loss	not specified	GPathogenic
Select item 3063129	GRCh37/hg19 10q23.31(chr10:90948076-91395072)x3	CH25H, IFIT1 +8 more	Copy number gain	not specified	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2422619	NC_000010.10:g.(?_90974585)_(91222335_?)dup	IFIT1, IFIT1B +5 more	Duplication	Wolman disease	GUncertain significance
Select item 1809032	GRCh37/hg19 10q23.31(chr10:90672265-91165763)x3	ACTA2, CH25H +8 more	Copy number gain	not provided	GUncertain significance
Select item 1808949	GRCh37/hg19 10q23.31(chr10:90874051-91291188)x3	CH25H, IFIT1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1807839	GRCh37/hg19 10q23.31-23.33(chr10:89823147-96056941)x1	ACTA2, ANKRD1 +46 more	Copy number loss	not provided	GPathogenic
Select item 1807623	GRCh37/hg19 10q23.1-23.32(chr10:82595472-93542416)x1	ACTA2, ADIRF +56 more	Copy number loss	not provided	GPathogenic
Select item 1708188	GRCh37/hg19 10q23.1-23.31(chr10:83533660-91913077)x1	ACTA2, ADIRF +50 more	Copy number loss	See cases	GPathogenic
Select item 979281	GRCh37/hg19 10q23.2-23.31(chr10:88685387-92144296)x1	ACTA2, ADIRF +34 more	Copy number loss	not provided	GPathogenic
Select item 832890	NC_000010.11:g.(?_88770845)_(89328078_?)del	ACTA2, ANKRD22 +9 more	Deletion	Autoimmune lymphoproliferative syndrome type 1	GPathogenic
Select item 831108	NC_000010.11:g.(?_89338661)_(89612048_?)del	IFIT1, IFIT1B +5 more	Deletion	not provided	GPathogenic
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 563795	GRCh37/hg19 10q23.1-23.32(chr10:83379241-93219169)x1	ACTA2, ADIRF +55 more	Copy number loss	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response

ClinVar

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Items: 57