RIN3[gene] - ClinVar

Search results

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 57811	GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1	ASB2, ATXN3 +201 more	Copy number loss	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 2431166	NM_024832.5(RIN3):c.-7C>A	RIN3	Single nucleotide variant (5 prime UTR variant)	Squamous cell carcinoma	GUncertain significance
Select item 2431145	NM_024832.5(RIN3):c.44+240_44+241inv	RIN3	Inversion (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	LOC130056359, LOC130056360 +663 more	Copy number gain	See cases	GPathogenic
Select item 3314385	NM_024832.5(RIN3):c.50T>C (p.Val17Ala)	RIN3 (V17A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306867	NM_024832.5(RIN3):c.122A>G (p.Lys41Arg)	RIN3 (K41R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478176	NM_024832.5(RIN3):c.154A>G (p.Ile52Val)	RIN3 (I52V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3314386	NM_024832.5(RIN3):c.235C>T (p.Arg79Trp)	RIN3 (R79W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299453	NM_024832.5(RIN3):c.236G>A (p.Arg79Gln)	RIN3 (R79Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3314388	NM_024832.5(RIN3):c.278C>T (p.Ser93Leu)	LOC130056344, RIN3 (S93L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2538362	NM_024832.5(RIN3):c.326C>T (p.Ser109Leu)	LOC130056344, RIN3 (S109L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314395	NM_024832.5(RIN3):c.365C>T (p.Ser122Leu)	RIN3 (S122L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2431118	NM_024832.5(RIN3):c.367+51A>T	RIN3	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 3154438	NM_024832.5(RIN3):c.419T>C (p.Ile140Thr)	RIN3 (I140T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343697	NM_024832.5(RIN3):c.478A>C (p.Ile160Leu)	RIN3 (I160L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333374	NM_024832.5(RIN3):c.500C>T (p.Thr167Met)	RIN3 (T167M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2431101	NM_024832.5(RIN3):c.532+23G>T	RIN3	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2431099	NM_024832.5(RIN3):c.532+232A>C	RIN3	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2596717	NM_024832.5(RIN3):c.556C>A (p.Pro186Thr)	RIN3 (P111T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392532	NM_024832.5(RIN3):c.559C>T (p.Pro187Ser)	RIN3 (P112S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346093	NM_024832.5(RIN3):c.563A>C (p.Gln188Pro)	RIN3 (Q113P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541293	NM_024832.5(RIN3):c.607G>A (p.Gly203Arg)	RIN3 (G203R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383951	NM_024832.5(RIN3):c.610T>C (p.Phe204Leu)	RIN3 (F204L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248716	NM_024832.5(RIN3):c.643C>T (p.His215Tyr)	RIN3 (H215Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557292	NM_024832.5(RIN3):c.649G>A (p.Ala217Thr)	RIN3 (A217T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314396	NM_024832.5(RIN3):c.788C>T (p.Pro263Leu)	RIN3 (P188L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387759	NM_024832.5(RIN3):c.796T>A (p.Ser266Thr)	RIN3 (S266T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233282	NM_024832.5(RIN3):c.880C>G (p.Pro294Ala)	RIN3 (P219A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259222	NM_024832.5(RIN3):c.977C>T (p.Ala326Val)	RIN3 (A326V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536524	NM_024832.5(RIN3):c.1004A>G (p.Gln335Arg)	RIN3 (Q260R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264367	NM_024832.5(RIN3):c.1036T>C (p.Cys346Arg)	RIN3 (C271R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3314391	NM_024832.5(RIN3):c.1114C>G (p.Pro372Ala)	RIN3 (P372A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154424	NM_024832.5(RIN3):c.1168C>T (p.Arg390Cys)	RIN3 (R390C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037914	NM_024832.5(RIN3):c.1171G>A (p.Val391Ile)	RIN3 (V316I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3154425	NM_024832.5(RIN3):c.1177G>A (p.Glu393Lys)	RIN3 (E393K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309022	NM_024832.5(RIN3):c.1223G>A (p.Gly408Glu)	RIN3 (G333E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054265	NM_024832.5(RIN3):c.1279C>T (p.Arg427Trp)	RIN3 (R352W +1 more)	Single nucleotide variant (missense variant)	RIN3-related disorder	GLikely benign
Select item 3154426	NM_024832.5(RIN3):c.1349C>T (p.Pro450Leu)	RIN3 (P450L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226993	NM_024832.5(RIN3):c.1353G>C (p.Arg451Ser)	RIN3 (R451S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489919	NM_024832.5(RIN3):c.1367C>T (p.Pro456Leu)	RIN3 (P456L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408404	NM_024832.5(RIN3):c.1376C>T (p.Pro459Leu)	RIN3 (P384L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154428	NM_024832.5(RIN3):c.1403G>C (p.Arg468Pro)	RIN3 (R468P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316648	NM_024832.5(RIN3):c.1699G>C (p.Val567Leu)	RIN3 (V492L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154429	NM_024832.5(RIN3):c.1729A>G (p.Lys577Glu)	RIN3 (K502E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329430	NM_024832.5(RIN3):c.1795C>T (p.Arg599Cys)	RIN3 (R524C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154430	NM_024832.5(RIN3):c.1804T>C (p.Tyr602His)	RIN3 (Y527H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480547	NM_024832.5(RIN3):c.1820A>G (p.Glu607Gly)	RIN3 (E607G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458106	NM_024832.5(RIN3):c.1826C>T (p.Ala609Val)	RIN3 (A534V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477996	NM_024832.5(RIN3):c.1925A>C (p.Gln642Pro)	LOC130056351, RIN3 (Q567P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356926	NM_024832.5(RIN3):c.1939A>G (p.Met647Val)	LOC130056351, RIN3 (M572V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154432	NM_024832.5(RIN3):c.1941G>A (p.Met647Ile)	LOC130056351, RIN3 (M572I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154433	NM_024832.5(RIN3):c.1978G>A (p.Glu660Lys)	RIN3 (E660K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314390	NM_024832.5(RIN3):c.2000C>T (p.Pro667Leu)	RIN3 (P592L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570392	NM_024832.5(RIN3):c.2023C>T (p.Leu675Phe)	RIN3 (L600F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314393	NM_024832.5(RIN3):c.2056T>C (p.Cys686Arg)	RIN3 (C686R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154434	NM_024832.5(RIN3):c.2140G>A (p.Glu714Lys)	RIN3 (E639K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531822	NM_024832.5(RIN3):c.2206G>A (p.Val736Met)	RIN3 (V661M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605617	NM_024832.5(RIN3):c.2330A>G (p.Asn777Ser)	RIN3 (N702S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067206	NM_024832.5(RIN3):c.2377T>C (p.Tyr793His)	RIN3 (Y718H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2209073	NM_024832.5(RIN3):c.2390G>A (p.Arg797His)	RIN3 (R722H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778518	NM_024832.5(RIN3):c.2403G>A (p.Thr801=)	RIN3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3154435	NM_024832.5(RIN3):c.2482A>T (p.Thr828Ser)	RIN3 (T753S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314394	NM_024832.5(RIN3):c.2584C>T (p.Arg862Cys)	RIN3 (R787C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154436	NM_024832.5(RIN3):c.2588G>A (p.Arg863Gln)	RIN3 (R863Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154437	NM_024832.5(RIN3):c.2663A>G (p.Glu888Gly)	LOC125078025, RIN3 (E813G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465105	NM_024832.5(RIN3):c.2749C>T (p.Arg917Trp)	LOC125078025, RIN3 (R842W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398762	NM_024832.5(RIN3):c.2785G>C (p.Gly929Arg)	LOC125078025, RIN3 (G929R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481957	NM_024832.5(RIN3):c.2792G>A (p.Cys931Tyr)	LOC125078025, RIN3 (C856Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470905	NM_024832.5(RIN3):c.2819C>T (p.Pro940Leu)	LOC125078025, RIN3 (P865L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310621	NM_024832.5(RIN3):c.2848A>C (p.Ser950Arg)	LOC125078025, RIN3 (S950R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314389	NM_024832.5(RIN3):c.2875G>C (p.Val959Leu)	RIN3 (V884L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055339	NM_024832.5(RIN3):c.2895TGG[1] (p.Gly972del)	RIN3 (G897del +1 more)	Microsatellite	RIN3-related disorder	GLikely benign
Select item 2466349	NM_024832.5(RIN3):c.2938C>G (p.Arg980Gly)	RIN3 (R980G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314392	NM_024832.5(RIN3):c.2939G>C (p.Arg980Pro)	RIN3 (R905P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	IFI27L1, IGHA2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2570894	GRCh37/hg19 14q31.3-32.13(chr14:88401076-94725706)x1	ASB2, ATXN3 +48 more	Copy number loss	not provided	GPathogenic
Select item 2425566	NC_000014.8:g.(?_90429459)_(97347545_?)dup	SYNE3, TC2N +66 more	Duplication	not provided	GUncertain significance
Select item 2425046	NC_000014.8:g.(?_90429459)_(94856914_?)dup	ASB2, ATXN3 +42 more	Duplication	Achondrogenesis, type IA	GUncertain significance
Select item 1807775	GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	ADSS1, AHNAK2 +185 more	Copy number gain	not provided	GPathogenic
Select item 1807735	GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3	OTUB2, PAPOLA +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1527831	GRCh37/hg19 14q31.3-32.13(chr14:88345625-94773741)	ASB2, ATXN3 +50 more	Copy number loss	not specified	GPathogenic
Select item 1341101	GRCh37/hg19 14q32.12(chr14:93052264-93150244)x1	RIN3	Copy number loss	not provided	GUncertain significance
Select item 813277	GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1	SERPINA10, SERPINA11 +74 more	Copy number loss	Deletion syndrome	GPathogenic
Select item 687996	GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3	ATXN3, BAG5 +164 more	Copy number gain	not provided	GPathogenic
Select item 564136	GRCh37/hg19 14q31.2-32.2(chr14:84783137-96908198)x1	AK7, ASB2 +74 more	Copy number loss	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 more	Copy number gain	See cases	GPathogenic
Select item 441942	GRCh37/hg19 14q32.12(chr14:93001577-93605662)x3	CHGA, GOLGA5 +3 more	Copy number gain	See cases	GUncertain significance
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

ClinVar

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Items: 97