13328[HGNC] - ClinVar

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Items: 45

	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 3108196	NM_012420.3(IFIT5):c.160T>C (p.Tyr54His)	IFIT5 (Y54H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391226	NM_012420.3(IFIT5):c.238A>G (p.Ile80Val)	IFIT5 (I80V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231530	NM_012420.3(IFIT5):c.275G>A (p.Arg92Gln)	IFIT5 (R92Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108197	NM_012420.3(IFIT5):c.406G>A (p.Glu136Lys)	IFIT5 (E136K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108198	NM_012420.3(IFIT5):c.434G>A (p.Gly145Asp)	IFIT5 (G145D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247458	NM_012420.3(IFIT5):c.469C>G (p.Gln157Glu)	IFIT5 (Q157E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776525	NM_012420.3(IFIT5):c.474G>A (p.Lys158=)	IFIT5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2613664	NM_012420.3(IFIT5):c.611T>G (p.Leu204Trp)	IFIT5 (L204W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108199	NM_012420.3(IFIT5):c.732A>T (p.Gln244His)	IFIT5 (Q244H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528260	NM_012420.3(IFIT5):c.732A>C (p.Gln244His)	IFIT5 (Q244H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108200	NM_012420.3(IFIT5):c.780G>C (p.Arg260Ser)	IFIT5 (R260S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108201	NM_012420.3(IFIT5):c.917A>G (p.Asn306Ser)	IFIT5 (N306S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609706	NM_012420.3(IFIT5):c.972A>G (p.Ile324Met)	IFIT5 (I324M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348349	NM_012420.3(IFIT5):c.998G>A (p.Arg333Gln)	IFIT5 (R333Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530773	NM_012420.3(IFIT5):c.1036A>G (p.Asn346Asp)	IFIT5 (N346D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371723	NM_012420.3(IFIT5):c.1039A>G (p.Met347Val)	IFIT5 (M347V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108194	NM_012420.3(IFIT5):c.1085G>A (p.Arg362Gln)	IFIT5 (R362Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3285331	NM_012420.3(IFIT5):c.1097G>A (p.Arg366His)	IFIT5 (R366H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285332	NM_012420.3(IFIT5):c.1143C>G (p.His381Gln)	IFIT5 (H381Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781214	NM_012420.3(IFIT5):c.1192C>T (p.His398Tyr)	IFIT5 (H398Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3108195	NM_012420.3(IFIT5):c.1381G>A (p.Ala461Thr)	IFIT5 (A461T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215935	NM_012420.3(IFIT5):c.1403A>G (p.Asn468Ser)	IFIT5 (N468S)	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 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 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

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Items: 45