24956[HGNC] - ClinVar

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

Search results

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LOC129388571, LOC129388572 +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
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 790337	NM_020190.5(OLFML3):c.999C>T (p.Val333=)	OLFML3	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 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 720993	NM_020190.5(OLFML3):c.1176G>A (p.Gln392=)	OLFML3	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2425617	NC_000001.10:g.(?_112318699)_(115576848_?)del	CSDE1, AP4B1 +28 more	Deletion	Hereditary spastic paraplegia 47	GPathogenic
Select item 2424476	NC_000001.10:g.(?_113456513)_(116311162_?)dup	SIKE1, DENND2C +23 more	Duplication	RASopathy	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 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)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 42