SFR1[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 3572	NC_000010.11:g.(102444036_?)_(?_104726221)del	ACTR1A, ARL3 +135 more	Deletion	Desmoplastic/nodular medulloblastoma	GPathogenic
Select item 155304	GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1	LOC124416905, LOC124416906 +318 more	Copy number loss	See cases	GPathogenic
Select item 149250	GRCh38/hg38 10q25.1(chr10:104077161-108350985)x3	CFAP43, CFAP58 +51 more	Copy number gain	See cases	GUncertain significance
Select item 3160896	NM_001002759.2(SFR1):c.5C>G (p.Ala2Gly)	SFR1 (A2G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2328867	NM_001002759.2(SFR1):c.11G>A (p.Gly4Glu)	SFR1 (G4E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3317852	NM_001002759.2(SFR1):c.48T>A (p.Ser16Arg)	SFR1 (S16R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292571	NM_001002759.2(SFR1):c.83C>T (p.Pro28Leu)	SFR1 (P15L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160892	NM_001002759.2(SFR1):c.109C>T (p.Pro37Ser)	SFR1 (P37S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215693	NM_001002759.2(SFR1):c.211C>T (p.Arg71Cys)	SFR1 (R58C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310062	NM_001002759.2(SFR1):c.212G>A (p.Arg71His)	SFR1 (R58H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367966	NM_001002759.2(SFR1):c.245C>T (p.Thr82Ile)	SFR1 (T82I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160893	NM_001002759.2(SFR1):c.274G>A (p.Glu92Lys)	SFR1 (E92K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257220	NM_001002759.2(SFR1):c.280A>G (p.Asn94Asp)	SFR1 (N81D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390025	NM_001002759.2(SFR1):c.287T>G (p.Leu96Trp)	SFR1 (L83W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477609	NM_001002759.2(SFR1):c.374G>A (p.Cys125Tyr)	SFR1 (C112Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160894	NM_001002759.2(SFR1):c.534G>A (p.Met178Ile)	SFR1 (M178I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160895	NM_001002759.2(SFR1):c.541T>C (p.Ser181Pro)	SFR1 (S181P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596274	NM_001002759.2(SFR1):c.559C>G (p.Gln187Glu)	SFR1 (Q174E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459514	NM_001002759.2(SFR1):c.590G>A (p.Ser197Asn)	SFR1 (S197N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284859	NM_001002759.2(SFR1):c.623C>T (p.Ser208Leu)	SFR1 (S208L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509976	NM_001002759.2(SFR1):c.626C>T (p.Ala209Val)	SFR1 (A209V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321854	NM_001002759.2(SFR1):c.628G>A (p.Val210Met)	SFR1 (V197M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2518122	NM_001002759.2(SFR1):c.641A>G (p.Asn214Ser)	SFR1 (N214S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160897	NM_001002759.2(SFR1):c.731A>G (p.Asp244Gly)	SFR1 (D244G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	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 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	CPN1, CRTAC1 +95 more	Duplication	not provided	GUncertain significance
Select item 1808168	GRCh37/hg19 10q24.33-25.1(chr10:105015345-105911204)x3	ATP5MK, CALHM1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1527599	GRCh37/hg19 10q24.32-25.3(chr10:104030479-115410590)	C10orf95, CALHM1 +57 more	Copy number loss	not specified	GPathogenic
Select item 979291	GRCh37/hg19 10q25.1(chr10:105839235-105890455)x1	CFAP43, COL17A1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563801	GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	ABLIM1, ABRAXAS2 +157 more	Copy number gain	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 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
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 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic

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Items: 42