ClinVar for Gene (Select 3434) - ClinVar

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

Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3108170	NM_001548.5(IFIT1):c.7A>C (p.Thr3Pro)	IFIT1 (T3P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108169	NM_001548.5(IFIT1):c.770C>T (p.Ala257Val)	IFIT1 (A226V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108168	NM_001548.5(IFIT1):c.748C>G (p.Gln250Glu)	IFIT1 (Q219E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108167	NM_001548.5(IFIT1):c.665T>G (p.Leu222Arg)	IFIT1 (L191R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108166	NM_001548.5(IFIT1):c.613C>T (p.Pro205Ser)	IFIT1 (P174S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108165	NM_001548.5(IFIT1):c.476G>A (p.Arg159Gln)	IFIT1 (R128Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108164	NM_001548.5(IFIT1):c.31A>G (p.Lys11Glu)	IFIT1 (K11E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108163	NM_001548.5(IFIT1):c.1181C>A (p.Ser394Tyr)	IFIT1 (S394Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108162	NM_001548.5(IFIT1):c.1049A>G (p.Tyr350Cys)	IFIT1 (Y350C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108161	NM_001548.5(IFIT1):c.1042A>G (p.Arg348Gly)	IFIT1 (R317G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108160	NM_001548.5(IFIT1):c.1039G>A (p.Ala347Thr)	IFIT1 (A316T +1 more)	Single nucleotide variant (missense variant)	not specified	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 2598362	NM_001548.5(IFIT1):c.17A>T (p.Asp6Val)	IFIT1 (D6V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588686	NM_001548.5(IFIT1):c.43G>C (p.Glu15Gln)	IFIT1 (E15Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2566210	NM_001548.5(IFIT1):c.785G>A (p.Arg262Gln)	IFIT1 (R262Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524766	NM_001548.5(IFIT1):c.163C>T (p.His55Tyr)	IFIT1 (H55Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519356	NM_001548.5(IFIT1):c.427T>C (p.Cys143Arg)	IFIT1 (C112R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516949	NM_001548.5(IFIT1):c.545C>T (p.Ala182Val)	IFIT1 (A151V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493084	NM_001548.5(IFIT1):c.149A>G (p.Tyr50Cys)	IFIT1 (Y19C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461836	NM_001548.5(IFIT1):c.730C>G (p.Leu244Val)	IFIT1 (L213V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422619	NC_000010.10:g.(?_90974585)_(91222335_?)dup	IFIT1, IFIT1B +5 more	Duplication	Wolman disease	GUncertain significance
Select item 2398422	NM_001548.5(IFIT1):c.365A>G (p.Glu122Gly)	IFIT1 (E122G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358367	NM_001548.5(IFIT1):c.341C>T (p.Ala114Val)	IFIT1 (A83V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325739	NM_001548.5(IFIT1):c.832T>G (p.Leu278Val)	IFIT1 (L247V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239766	NM_001548.5(IFIT1):c.808G>A (p.Ala270Thr)	IFIT1 (A270T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239049	NM_001548.5(IFIT1):c.398G>A (p.Arg133His)	IFIT1 (R133H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219951	NM_001548.5(IFIT1):c.290C>T (p.Thr97Ile)	IFIT1 (T97I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210118	NM_001548.5(IFIT1):c.933A>T (p.Arg311Ser)	IFIT1 (R280S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204072	NM_001548.5(IFIT1):c.779T>A (p.Phe260Tyr)	IFIT1 (F229Y +1 more)	Single nucleotide variant (missense variant)	not specified	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 831108	NC_000010.11:g.(?_89338661)_(89612048_?)del	IFIT1, IFIT1B +5 more	Deletion	not provided	GPathogenic
Select item 709268	NM_001548.5(IFIT1):c.141C>T (p.Asp47=)	IFIT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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)	A1CF, ABCC2 +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	BCCIP, BEND7 +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
Select item 152652	GRCh38/hg38 10q23.31(chr10:89095288-89633544)x3	CH25H, IFIT1 +32 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 51