ClinVar for Gene (Select 56944) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3302295	NM_020190.5(OLFML3):c.412A>C (p.Thr138Pro)	OLFML3 (T118P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302294	NM_020190.5(OLFML3):c.14C>G (p.Thr5Ser)	OLFML3 (T5S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3302293	NM_020190.5(OLFML3):c.148C>T (p.Arg50Trp)	OLFML3 (R50W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3247866	NC_000001.10:g.(?_114437687)_(115576848_?)del	AP4B1, AMPD1 +12 more	Deletion	RASopathy	GUncertain significance
Select item 3204272	NM_020190.5(OLFML3):c.793C>G (p.Pro265Ala)	OLFML3 (P245A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204271	NM_020190.5(OLFML3):c.668G>A (p.Arg223Gln)	OLFML3 (R203Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204270	NM_020190.5(OLFML3):c.59A>G (p.Gln20Arg)	OLFML3 (Q20R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3204269	NM_020190.5(OLFML3):c.560G>A (p.Arg187His)	OLFML3 (R167H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204268	NM_020190.5(OLFML3):c.415A>G (p.Ile139Val)	OLFML3 (I119V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204267	NM_020190.5(OLFML3):c.281T>C (p.Val94Ala)	OLFML3 (V74A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204266	NM_020190.5(OLFML3):c.275G>A (p.Arg92Gln)	OLFML3 (R31Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204265	NM_020190.5(OLFML3):c.265C>T (p.Arg89Cys)	OLFML3 (R89C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204264	NM_020190.5(OLFML3):c.167G>T (p.Arg56Leu)	OLFML3 (R56L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3204263	NM_020190.5(OLFML3):c.14C>T (p.Thr5Ile)	OLFML3 (T5I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3204261	NM_020190.5(OLFML3):c.1064T>A (p.Leu355Gln)	OLFML3 (L294Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685819	GRCh37/hg19 1p13.2(chr1:114121742-114665485)x3	BCL2L15, DCLRE1B +8 more	Copy number gain	not provided	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2681450	NM_020190.5(OLFML3):c.585C>A (p.Ala195=)	OLFML3	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2608682	NM_020190.5(OLFML3):c.1031G>A (p.Arg344His)	OLFML3 (R283H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594334	NM_020190.5(OLFML3):c.868C>T (p.Arg290Trp)	OLFML3 (R270W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554769	NM_020190.5(OLFML3):c.746G>C (p.Arg249Pro)	OLFML3 (R188P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541917	NM_020190.5(OLFML3):c.586C>T (p.Arg196Trp)	OLFML3 (R135W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534910	NM_020190.5(OLFML3):c.287A>G (p.Tyr96Cys)	OLFML3 (Y76C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425617	NC_000001.10:g.(?_112318699)_(115576848_?)del	AMPD1, AP4B1 +28 more	Deletion	Hereditary spastic paraplegia 47	GPathogenic
Select item 2424476	NC_000001.10:g.(?_113456513)_(116311162_?)dup	AMPD1, AP4B1 +23 more	Duplication	RASopathy	GUncertain significance
Select item 2378811	NM_020190.5(OLFML3):c.586C>G (p.Arg196Gly)	OLFML3 (R135G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315875	NM_020190.5(OLFML3):c.929A>G (p.Gln310Arg)	OLFML3 (Q290R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315632	NM_020190.5(OLFML3):c.201G>C (p.Glu67Asp)	OLFML3 (E47D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307641	NM_020190.5(OLFML3):c.1126C>T (p.Arg376Cys)	OLFML3 (R356C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306749	NM_020190.5(OLFML3):c.643T>G (p.Tyr215Asp)	OLFML3 (Y195D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274138	NM_020190.5(OLFML3):c.193C>G (p.Leu65Val)	OLFML3 (L4V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266642	NM_020190.5(OLFML3):c.395T>C (p.Val132Ala)	OLFML3 (V71A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252818	NM_020190.5(OLFML3):c.992T>A (p.Leu331His)	OLFML3 (L311H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217651	NM_020190.5(OLFML3):c.1024C>T (p.Arg342Trp)	OLFML3 (R342W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 814118	GRCh37/hg19 1p13.2-13.1(chr1:114024461-116189135)x1	VANGL1, TSHB +20 more	Copy number loss	not provided	GLikely pathogenic
Select item 790337	NM_020190.5(OLFML3):c.999C>T (p.Val333=)	OLFML3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 720993	NM_020190.5(OLFML3):c.1176G>A (p.Gln392=)	OLFML3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441879	GRCh37/hg19 1p13.2(chr1:114011163-114803749)x3	AP4B1, BCL2L15 +8 more	Copy number gain	See cases	GUncertain significance
Select item 161730	NM_020190.5(OLFML3):c.402C>G (p.Asp134Glu)	OLFML3 (D134E +2 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 47