ClinVar for Gene (Select 9783) - ClinVar

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Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3356146	NM_014747.3(RIMS3):c.694C>T (p.Pro232Ser)	LOC126805714, RIMS3 (P232S)	Single nucleotide variant (missense variant)	RIMS3-related disorder	GLikely benign
Select item 3349105	NM_014747.3(RIMS3):c.695C>T (p.Pro232Leu)	LOC126805714, RIMS3 (P232L)	Single nucleotide variant (missense variant)	RIMS3-related disorder	GUncertain significance
Select item 3314366	NM_014747.3(RIMS3):c.866C>A (p.Ser289Tyr)	RIMS3 (S289Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314365	NM_014747.3(RIMS3):c.355G>A (p.Gly119Ser)	RIMS3 (G119S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154392	NM_014747.3(RIMS3):c.743T>G (p.Met248Arg)	RIMS3 (M248R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154390	NM_014747.3(RIMS3):c.581A>G (p.Tyr194Cys)	LOC126805714, RIMS3 (Y194C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154389	NM_014747.3(RIMS3):c.511C>G (p.Leu171Val)	LOC126805714, RIMS3 (L171V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050793	NM_014747.3(RIMS3):c.34G>A (p.Gly12Arg)	RIMS3 (G12R)	Single nucleotide variant (missense variant)	RIMS3-related disorder	GLikely benign
Select item 3043204	NM_014747.3(RIMS3):c.276G>A (p.Ala92=)	RIMS3	Single nucleotide variant (synonymous variant)	RIMS3-related disorder	GLikely benign
Select item 3042239	NM_014747.3(RIMS3):c.700G>A (p.Gly234Ser)	LOC126805714, RIMS3 (G234S)	Single nucleotide variant (missense variant)	RIMS3-related disorder	GLikely benign
Select item 3041447	NM_014747.3(RIMS3):c.619G>A (p.Ala207Thr)	LOC126805714, RIMS3 (A207T)	Single nucleotide variant (missense variant)	RIMS3-related disorder	GBenign
Select item 3040707	NM_014747.3(RIMS3):c.217+10C>A	RIMS3	Single nucleotide variant (intron variant)	RIMS3-related disorder	GLikely benign
Select item 3039796	NM_014747.3(RIMS3):c.507C>A (p.Gly169=)	LOC126805714, RIMS3	Single nucleotide variant (synonymous variant)	RIMS3-related disorder	GLikely benign
Select item 3039579	NM_014747.3(RIMS3):c.30A>C (p.Ser10=)	RIMS3	Single nucleotide variant (synonymous variant)	RIMS3-related disorder	GBenign
Select item 3038872	NM_014747.3(RIMS3):c.553C>G (p.Pro185Ala)	LOC126805714, RIMS3 (P185A)	Single nucleotide variant (missense variant)	RIMS3-related disorder	GBenign
Select item 3033602	NM_014747.3(RIMS3):c.642C>A (p.Thr214=)	LOC126805714, RIMS3	Single nucleotide variant (synonymous variant)	RIMS3-related disorder	GBenign
Select item 3033256	NM_014747.3(RIMS3):c.261G>A (p.Thr87=)	RIMS3	Single nucleotide variant (synonymous variant)	RIMS3-related disorder	GLikely benign
Select item 3029043	NM_014747.3(RIMS3):c.351C>T (p.Ser117=)	RIMS3	Single nucleotide variant (synonymous variant)	RIMS3-related disorder	GLikely benign
Select item 3024571	GRCh37/hg19 1p34.2(chr1:40688246-42630383)x1	CITED4, GUCA2A +20 more	Copy number loss	not provided	GUncertain significance
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2630650	NM_014747.3(RIMS3):c.239G>A (p.Arg80His)	RIMS3 (R80H)	Single nucleotide variant (missense variant)	RIMS3-related disorder	GUncertain significance
Select item 2624298	NM_014747.3(RIMS3):c.124G>T (p.Ala42Ser)	RIMS3 (A42S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621080	NM_014747.3(RIMS3):c.84C>G (p.Cys28Trp)	RIMS3 (C28W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619140	NM_014747.3(RIMS3):c.471G>A (p.Met157Ile)	RIMS3 (M157I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611396	NM_014747.3(RIMS3):c.350C>T (p.Ser117Phe)	RIMS3 (S117F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588394	NM_014747.3(RIMS3):c.286C>T (p.Arg96Trp)	RIMS3 (R96W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495475	NM_014747.3(RIMS3):c.761T>C (p.Met254Thr)	RIMS3 (M254T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480167	NM_014747.3(RIMS3):c.356G>A (p.Gly119Asp)	RIMS3 (G119D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480113	NM_014747.3(RIMS3):c.806C>T (p.Ala269Val)	RIMS3 (A269V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402099	NM_014747.3(RIMS3):c.739C>T (p.Arg247Cys)	RIMS3 (R247C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379444	NM_014747.3(RIMS3):c.238C>T (p.Arg80Cys)	RIMS3 (R80C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375747	NM_014747.3(RIMS3):c.805G>A (p.Ala269Thr)	RIMS3 (A269T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337397	NM_014747.3(RIMS3):c.188G>A (p.Ser63Asn)	RIMS3 (S63N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323220	NM_014747.3(RIMS3):c.487G>A (p.Ala163Thr)	LOC126805714, RIMS3 (A163T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319415	NM_014747.3(RIMS3):c.658C>T (p.Pro220Ser)	LOC126805714, RIMS3 (P220S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315140	NM_014747.3(RIMS3):c.66C>A (p.Ser22Arg)	RIMS3 (S22R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308515	NM_014747.3(RIMS3):c.41C>T (p.Ser14Phe)	RIMS3 (S14F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293927	NM_014747.3(RIMS3):c.254G>C (p.Arg85Pro)	RIMS3 (R85P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271217	NM_014747.3(RIMS3):c.899A>G (p.Glu300Gly)	RIMS3 (E300G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213869	NM_014747.3(RIMS3):c.274G>A (p.Ala92Thr)	RIMS3 (A92T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526937	GRCh37/hg19 1p34.3-34.2(chr1:38679545-42556292)	AKIRIN1, BMP8A +40 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 1300631	NM_014747.3(RIMS3):c.359+16T>C	RIMS3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442493	GRCh37/hg19 1p34.2(chr1:40962859-41375802)x1	CITED4, EXO5 +5 more	Copy number loss	See cases	GUncertain significance
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 394139	GRCh37/hg19 1p34.2(chr1:41086977-41670357)x3	CITED4, CTPS1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 254027	GRCh37/hg19 1p34.2(chr1:40944820-42213560)x1	ZFP69, EDN2 +12 more	Copy number loss	See cases	GUncertain significance
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 59934	GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1	AKIRIN1, BMP8A +268 more	Copy number loss	See cases	GPathogenic
Select item 58072	GRCh38/hg38 1p34.3-34.2(chr1:39360747-40900817)x3	BMP8A, BMP8B +129 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 54