RARRES1[gene] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937944, LOC129937945 +630 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938007, LOC129938008 +1317 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC129938312, LOC129938313 +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937897, LOC129937898 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 57993	GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3	ACTRT3, ARL14 +303 more	Copy number gain	See cases	GPathogenic
Select item 57797	GRCh38/hg38 3q25.32-25.33(chr3:158614801-159429760)x3	GFM1, IQCJ +19 more	Copy number gain	See cases	GUncertain significance
Select item 60124	GRCh38/hg38 3q25.32(chr3:158652224-159036456)x1	GFM1, LOC100287290 +13 more	Copy number loss	See cases	GUncertain significance
Select item 2461576	NM_206963.2(RARRES1):c.863C>T (p.Pro288Leu)	RARRES1 (P288L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151662	NM_206963.2(RARRES1):c.835G>A (p.Gly279Arg)	RARRES1 (G279R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151661	NM_206963.2(RARRES1):c.829G>T (p.Ala277Ser)	RARRES1 (A277S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151660	NM_206963.2(RARRES1):c.818C>T (p.Thr273Ile)	RARRES1 (T273I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327695	NM_206963.2(RARRES1):c.762G>T (p.Leu254Phe)	RARRES1 (L254F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311821	NM_206963.2(RARRES1):c.691A>C (p.Ile231Leu)	RARRES1 (I231L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596651	NM_206963.2(RARRES1):c.652C>T (p.Leu218Phe)	RARRES1 (L218F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492455	NM_206963.2(RARRES1):c.617T>C (p.Met206Thr)	RARRES1 (M206T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 155696	GRCh38/hg38 3q25.32(chr3:158707865-158948178)x1	LOC100287290, LOC110121239 +11 more	Copy number loss	See cases	GLikely benign
Select item 155291	GRCh38/hg38 3q25.32(chr3:158707865-158947436)x1	LOC100287290, LOC110121239 +11 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 2285335	NM_206963.2(RARRES1):c.461G>T (p.Arg154Ile)	RARRES1 (R154I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369478	NM_206963.2(RARRES1):c.436A>T (p.Thr146Ser)	RARRES1 (T146S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356681	NM_206963.2(RARRES1):c.316A>G (p.Ser106Gly)	LOC126806859, RARRES1 (S106G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288695	NM_206963.2(RARRES1):c.307G>A (p.Val103Met)	LOC126806859, RARRES1 (V103M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151657	NM_206963.2(RARRES1):c.295T>C (p.Cys99Arg)	LOC126806859, RARRES1 (C99R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522904	NM_206963.2(RARRES1):c.245T>G (p.Val82Gly)	RARRES1 (V82G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151656	NM_206963.2(RARRES1):c.242G>T (p.Arg81Leu)	RARRES1 (R81L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206026	NM_206963.2(RARRES1):c.223G>T (p.Gly75Cys)	RARRES1 (G75C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486562	NM_206963.2(RARRES1):c.220T>C (p.Ser74Pro)	RARRES1 (S74P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544680	NM_206963.2(RARRES1):c.209T>A (p.Phe70Tyr)	RARRES1 (F70Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151655	NM_206963.2(RARRES1):c.146C>T (p.Pro49Leu)	RARRES1 (P49L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273772	NM_206963.2(RARRES1):c.137C>G (p.Pro46Arg)	LOC129937823, RARRES1 (P46R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381831	NM_206963.2(RARRES1):c.125A>C (p.Asp42Ala)	LOC129937823, RARRES1 (D42A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404036	NM_206963.2(RARRES1):c.124G>C (p.Asp42His)	LOC129937823, RARRES1 (D42H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381829	NM_206963.2(RARRES1):c.118T>G (p.Ser40Ala)	LOC129937823, RARRES1 (S40A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151658	NM_206963.2(RARRES1):c.34T>C (p.Trp12Arg)	LOC100287290, RARRES1 (W12R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2344505	NM_206963.2(RARRES1):c.34T>A (p.Trp12Arg)	LOC100287290, RARRES1 (W12R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2685095	GRCh37/hg19 3q25.32(chr3:158405217-158775879)x1	GFM1, MFSD1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527051	GRCh37/hg19 3q25.32(chr3:158060351-158665225)	GFM1, LXN +4 more	Copy number gain	not specified	GUncertain significance
Select item 1527050	GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	ACTL6A, ACTRT3 +79 more	Copy number gain	not specified	GPathogenic
Select item 1527049	GRCh37/hg19 3q25.31-25.33(chr3:156768935-160158553)	C3orf80, CCNL1 +16 more	Copy number gain	not specified	GUncertain significance
Select item 1527043	GRCh37/hg19 3q24-25.33(chr3:145486960-160504834)	AADAC, AADACL2 +75 more	Copy number gain	not specified	GPathogenic
Select item 1328449	GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1	AADAC, AADACL2 +83 more	Copy number loss	not provided	GPathogenic
Select item 1325533	Single allele	GFM1, LXN +2 more	Duplication	not provided	GUncertain significance
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	CHST2, CLRN1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 929324	GRCh37/hg19 3q25.31-25.33(chr3:156812581-160154747)x3	C3orf80, CCNL1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 688442	GRCh37/hg19 3q25.32(chr3:158405216-158776705)x1	GFM1, MFSD1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 688198	GRCh37/hg19 3q25.32(chr3:158149940-158802473)x3	GFM1, IQCJ +6 more	Copy number gain	not provided	GUncertain significance
Select item 562833	GRCh37/hg19 3q25.32(chr3:158416951-158532916)x1	RARRES1, MFSD1	Copy number loss	not provided	GUncertain significance
Select item 562831	GRCh37/hg19 3q25.32-25.33(chr3:157991657-159073531)x3	MFSD1, MLF1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 442934	GRCh37/hg19 3q25.32(chr3:158425654-158666381)x1	MFSD1, RARRES1	Copy number loss	See cases	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	PTX3, MIR1224 +220 more	Copy number gain	See cases	GPathogenic

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Items: 57