RGL1[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932075, LOC129932076 +560 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	ANGPTL1, APOBEC4 +455 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129388668, LOC129388669 +477 more	Copy number loss	See cases	GPathogenic
Select item 60077	GRCh38/hg38 1q25.3-31.1(chr1:182137726-186931125)x1	APOBEC4, ARPC5 +160 more	Copy number loss	See cases	GPathogenic
Select item 3127974	NM_203454.3(APOBEC4):c.1066G>A (p.Glu356Lys)	APOBEC4, RGL1 (E356K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 783956	NM_203454.3(APOBEC4):c.961A>G (p.Asn321Asp)	APOBEC4, RGL1 (N321D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 783957	NM_203454.3(APOBEC4):c.899A>G (p.Asp300Gly)	APOBEC4, RGL1 (D300G)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2592625	NM_203454.3(APOBEC4):c.866C>T (p.Ala289Val)	APOBEC4, RGL1 (A289V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2387334	NM_203454.3(APOBEC4):c.703G>A (p.Val235Ile)	APOBEC4, RGL1 (V235I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127977	NM_203454.3(APOBEC4):c.680A>G (p.Tyr227Cys)	APOBEC4, RGL1 (Y227C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334007	NM_203454.3(APOBEC4):c.610G>A (p.Gly204Ser)	APOBEC4, RGL1 (G204S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 783958	NM_203454.3(APOBEC4):c.587C>G (p.Ser196Cys)	APOBEC4, RGL1 (S196C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 789700	NM_203454.3(APOBEC4):c.546G>A (p.Pro182=)	APOBEC4, RGL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2264863	NM_203454.3(APOBEC4):c.523C>T (p.Arg175Trp)	APOBEC4, RGL1 (R175W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407999	NM_203454.3(APOBEC4):c.514G>A (p.Glu172Lys)	APOBEC4, RGL1 (E172K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127976	NM_203454.3(APOBEC4):c.283G>A (p.Glu95Lys)	APOBEC4, RGL1 (E95K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127975	NM_203454.3(APOBEC4):c.173C>T (p.Thr58Ile)	APOBEC4, RGL1 (T58I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514344	NM_203454.3(APOBEC4):c.107G>T (p.Arg36Leu)	APOBEC4, RGL1 (R36L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539080	NM_203454.3(APOBEC4):c.92G>T (p.Cys31Phe)	APOBEC4, RGL1 (C31F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127978	NM_203454.3(APOBEC4):c.79G>A (p.Asp27Asn)	APOBEC4, RGL1 (D27N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3153544	NM_015149.6(RGL1):c.34G>A (p.Glu12Lys)	RGL1 (E12K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153545	NM_015149.6(RGL1):c.36G>C (p.Glu12Asp)	RGL1 (E12D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597398	NM_015149.6(RGL1):c.62A>G (p.Lys21Arg)	RGL1 (K21R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153543	NM_001297671.3(RGL1):c.110C>T (p.Ala37Val)	RGL1 (A72V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 57817	GRCh38/hg38 1q25.3(chr1:183828804-184670837)x3	C1orf21, C1orf21-DT +21 more	Copy number gain	See cases	GUncertain significance
Select item 2522624	NM_001297671.3(RGL1):c.370A>T (p.Asn124Tyr)	RGL1 (N122Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252495	NM_001297671.3(RGL1):c.529C>T (p.Arg177Trp)	RGL1 (R177W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314132	NM_001297671.3(RGL1):c.625A>G (p.Thr209Ala)	RGL1 (T244A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153546	NM_001297671.3(RGL1):c.694T>C (p.Ser232Pro)	RGL1 (S267P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546389	NM_001297671.3(RGL1):c.727A>G (p.Met243Val)	RGL1 (M241V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 146665	GRCh38/hg38 1q25.3(chr1:183892070-184122138)x3	COLGALT2, LOC111501763 +10 more	Copy number gain	See cases	GBenign
Select item 3153535	NM_001297671.3(RGL1):c.1191G>C (p.Gln397His)	RGL1 (Q395H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312935	NM_001297671.3(RGL1):c.1340A>G (p.Lys447Arg)	RGL1 (K418R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153537	NM_001297671.3(RGL1):c.1391C>T (p.Ala464Val)	RGL1 (A462V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153538	NM_001297671.3(RGL1):c.1469A>C (p.Glu490Ala)	RGL1 (E490A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318133	NM_001297671.3(RGL1):c.1494T>G (p.Ile498Met)	RGL1 (I533M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153539	NM_001297671.3(RGL1):c.1535G>A (p.Arg512Gln)	RGL1 (R510Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153540	NM_001297671.3(RGL1):c.1709C>T (p.Ser570Phe)	LOC129932096, RGL1 (S570F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717137	NM_001297671.3(RGL1):c.1749+7A>G	LOC129932096, RGL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2375871	NM_001297671.3(RGL1):c.1792G>T (p.Asp598Tyr)	RGL1 (D569Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153541	NM_001297671.3(RGL1):c.1870C>G (p.His624Asp)	RGL1 (H624D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218711	NM_001297671.3(RGL1):c.1915C>T (p.Pro639Ser)	RGL1 (P610S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153542	NM_001297671.3(RGL1):c.1942G>T (p.Asp648Tyr)	RGL1 (D619Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516391	NM_001297671.3(RGL1):c.1958G>A (p.Arg653His)	RGL1 (R624H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621469	NM_001297671.3(RGL1):c.2060A>G (p.Asn687Ser)	RGL1 (N658S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 3062666	GRCh37/hg19 1q25.3(chr1:183494419-183633454)x1	APOBEC4, ARPC5 +3 more	Copy number loss	not specified	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	IGFN1, IKBKE +211 more	Copy number gain	not provided	GPathogenic
Select item 1808632	GRCh37/hg19 1q25.2-31.2(chr1:179727182-192260142)x1	ACBD6, APOBEC4 +48 more	Copy number loss	not provided	GPathogenic
Select item 1527470	GRCh37/hg19 1q25.3(chr1:180830413-183981164)	APOBEC4, ARPC5 +23 more	Copy number gain	not specified	GUncertain significance
Select item 1527448	GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)	ACBD6, APOBEC4 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527437	GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)	ABL2, ACBD6 +82 more	Copy number loss	not specified	GPathogenic
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1341276	GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1	ABL2, ACBD6 +56 more	Copy number loss	not provided	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 814145	GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1	ABL2, ACBD6 +88 more	Copy number loss	not provided	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 565205	GRCh37/hg19 1q25.3(chr1:183827844-184317756)x3	COLGALT2, RGL1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 565204	GRCh37/hg19 1q25.3(chr1:183744212-183847029)x1	RGL1	Copy number loss	not provided	GUncertain significance
Select item 565203	GRCh37/hg19 1q25.3(chr1:183589206-183827325)x3	RGL1, APOBEC4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 443359	GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3	ABL2, ACBD6 +71 more	Copy number gain	See cases	GLikely pathogenic
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 442042	GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1	DENND1B, DHX9 +83 more	Copy number loss	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic
Select item 393869	GRCh37/hg19 1q25.2-25.3(chr1:179564752-183850820)x1	ACBD6, APOBEC4 +30 more	Copy number loss	See cases	GPathogenic
Select item 253546	GRCh37/hg19 1q25.3-31.2(chr1:181572003-191524283)x1	COLGALT2, LAMC1 +35 more	Copy number loss	See cases	GPathogenic

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Items: 70